Finding Answers to Heterotaxy - Polysplenia and PDD NOS

CHD-UK...A website with lots of information on CHD

2012-02-09T18:18:00.004-05:00

In honor of CHD awareness week. I am posting a link to a website that I wanted to share with all of you.

The CHD-UK is one of my favorite websites on Congenital Heart Defect. If you are looking for information on CHD check out the CHD-UK website.

http://congenital-heart-defects.co.uk/WhatisCongenitalHeartDefects.aspx

Heterotaxy Hope 2013 Conference

2012-01-18T14:04:00.006-05:00

I want to share some news with all you...Heterotaxy Hope Organization (H20) is planning the next conference in 2013!!! H2O wants to hear from the Heterotaxy Community. Please visit Heterotaxy Hope Organization on Facebook.

It will only take a couple minutes to answer this short questionnaire about what dates, location, and topics. Please make special note, the survey is only for the Heterotaxy Community.

Any questions, please contact me via email or send an instant message thru Heterotaxy Hope Organization Facebook Page.

Please see link below to direct you to the Heterotaxy Hope Organization Facebook Page.

http://www.facebook.com/#!/pages/Heterotaxy-Hope-Organization-H20/276596106190

One person can make a change and together we can make an impact!

2011-12-23T09:48:00.004-05:00

It takes one person to spread awareness. One person to make a change and all of us together can make an impact....

"Many are using social media to educate people about their conditions or support others facing similar situations. Individually these outlets represent a small portion of the Internet population, but together they have a powerful voice that can be heard by millions". Quote taken from Tripp Underwood

To read more what Tripp Underwood has to say on Social Medida & Baby Pierce see the link noted below.

http://childrenshospitalblog.org/social-media-helps-bring-very-sick-patient-to-childrens/#disqus_thread

A special thank you to The Heterotaxy Network and James Project (http://jamessproject.com/blog/)for everything they did for Baby Pierce.

SHROOM3 Heterotaxy

2011-12-20T08:16:00.000-05:00

Check this link out...SHROOM3 is a novel candidate for heterotaxy

http://genomebiology.com/content/pdf/gb-2011-12-9-r91.pdf

Saving of Baby Pierce CNN Video

2011-12-16T13:18:00.001-05:00

Known fact: 4 per 1 million children have heterotaxy.

Please see the video on CNN.

http://www.cnn.com/video/?hpt=hp_c2#/video/health/2011/12/16/pkg-saving-baby-pierce.cnn

A CHANCE TO SURVIVE

2011-12-15T10:47:00.003-05:00

This is a Christmas miracle in the works.

Baby Pierce denied by Medicaid to be medical transport to Children Hospital Boston for a chance to survive. However, with the help of Heart Warrior moms they were able to find a company to donate their air service. All that was needed was money to help pay for fuel for the trip. Who says Heart Warrior Moms cannot move mountains? These incredible heart moms were able to raise $7,500 within 90 minutes.

Baby Pierce was born with Heterotaxy Syndrome with serve Congenital Heart Disease. Baby Pierce's mom was interviewed by CNN Elizabeth Cohen. Baby Pierce's story will appear tonight on Anderson Cooper AC 360 on CNN Monday, December 19th at 8 and 10 pm.

All I can say is shame to you Medicaid for saying NO to a disabled veteran father of a Heterotaxy 4th month old boy with serve CONGENITAL HEART DISEASE.

***noted added 12/20/11***CNN reported last night that Riley Hosiptal came thru on Friday with air service. However, Medicaid still refused to pay for anything.

For more information, please see the following links noted below.

http://jamessproject.com/blog/cms-denied-transport-others-opened-their-hearts/
http://ac360.blogs.cnn.com/

Heterotaxy Hope Organization Website Welcome

2011-11-26T11:57:00.001-05:00

Please take a look at the video from the President of Heterotaxy Hope Organization. We are working hard on getting our website up and running. We are also working hard on various projects for the future. However, with your help we can accomplish so much more. Please consider donating to Heterotaxy Hope or help us with our quest to spread awareness.

Please visit http://heterotaxyhope.org/Donations.aspx for more information.

Making a donation

2011-11-15T11:13:00.001-05:00

If you would like to donate to a cause please consider Heterotaxy Hope Organization. The Heterotaxy Hope Organization (H2O) is a non profit 501(c)3 organization dedicated to strengthening the Heterotaxy community through networking, social support, and raising awareness of Heterotaxy among medical professionals.

With your help we make an impact on The Heterotaxy Community. ...

http://heterotaxyhope.org/Donations.aspx

A great Article...A must read...

2011-07-17T20:12:00.001-04:00

See link below...It's an article on Heterotaxia, Congenital Heart Disease, and Primary Ciliary Dyskinesia
http://circ.ahajournals.org/content/115/22/2793.full

Angel Flight and Angel Bus

2011-06-22T19:16:00.006-04:00

Angel Flight is a non profit organization that arranges free air transportation for any serious medically related need...

Angel Bus is a non profit organization that arranges free ground transportation for any serious medically related need...

For more information please visit the links noted below.

http://www.angelflight.com/
http://www.angel-bus.org/

Heterotaxy Hope Conference - June 2011

2011-05-21T07:14:00.001-04:00

Taken from the Heterotaxy Hope Facebook Page...Please visit Heterotaxy Hope...

How can you help? Take a couple of days and come to the conference. That would be the biggest help. We need attendees so that we can show doctors/researchers that we are an enthusiastic, interested, community who wants to help ourselves.

http://www.facebook.com/home.php#!/pages/Heterotaxy-Hope-Organization-H20/276596106190

Heterotaxy Hope Conference Agenda - June 2011

2011-05-21T07:09:00.002-04:00

From the Heterotaxy Hope FB page:

Please see our conference agenda in the link below. Also, we checked the hotel vacancies for the conference. There are still rooms left. Please remember, the discount rate is available until June 7th. We need as many heterotaxy families there are possible to make this a success.

http://heterotaxyhope.org/HeterotaxyHopeConferenceAgenda.aspx

Meet the Spekers for 2011 Heterotaxy Hope Conference

2011-03-24T15:32:00.002-04:00

http://heterotaxyhope.org/MeettheSpeakerTerriKaris.aspx
http://heterotaxyhope.org/MeettheSpeakerMicheleManion.aspx
http://heterotaxyhope.org/MeettheSpeakers.aspx

More to follow...

2011 Heterotaxy Conference

2011-02-24T16:44:00.002-05:00

I want to share some exciting news from Heterotaxy Hope Organization (H2O)

Heterotaxy Hope is pleased to announce the 2011 Heterotaxy Conference. The conference will be at the University Inn in Chapel Hill, North Carolina from June 24th to June 26th. Please click the link below for more details.

http://heterotaxyhope.org/2011_H2O_Conference.aspx

The Heterotaxy Hope Organization

2010-09-28T21:56:00.005-04:00

I want to bring to your attention that The Heterotaxy Hope Organization can be found on facebook...
http://www.facebook.com/profile.php?id=1833982492#!/pages/Heterotaxy-Hope-Organization-H20/276596106190

Please see statement below from The Heterotaxy Hope Organization Facebook page:
We are a group of Heterotaxy Parents/Patients who have joined together to spread awareness of this rare, yet difficult, disease. We do not have memberships. We have a board of directors who interface with the Heterotaxy Community to find projects which help the community. We have been a non profit corporation in the State of Texas since 2004. In 2009 we achieved 501(c)3 status. What is Heterotaxy? Heterotaxy is a rare congenital disease. The diseases' main features are reversal of organs in the body, commonly known as situs inversus. However, with Heterotaxy, the reversal of organs is not complete, and this often leads to serious heart, lung and intestinal conditions. In addition the patient may not have a spleen (Asplenia) or may have many spleens (Polysplenia).

Follow me on Twitter - Just set up today...

2010-07-19T00:43:00.000-04:00

Just set up a twitter acount...Find me under Ana4heterotaxy

Brady's full sentence

2010-03-27T15:33:00.002-04:00

Last night, we took the kids to the YMCA for family swim. We had so much fun and the kids loved it. Today, Brady said to his dad, "Lets go swimming". Can you believe Brady said a full sentence. Well he did! I am so excited! I just wanted to share that with all of you.

Update

2010-03-19T13:04:00.000-04:00

Chloe had a great gastroenterology check up yesterday. The doctor said that she seemed to be doing well and we are not going to change a thing. She will continue with Prevacid 30 mg once a day, 80 mg erythromycin 3 times a day and a tablespoon of marlex once a day. Her next GI visit in 6 months – Yippee. We were going every 3 to 4 months. Chloe and I are very pleased that we do not have to return until September. I am so happy that her stomach issues (GERD, chronic constipation, and Gastroparesis (slow stomach)) are doing a lot better.
Chloe also had a good immunology appointment. The doctor was happy to hear that she only missed about 15 days of school since January. Also compared to pervious years she has had less various infections. Last year she only had 2 pneumonias, 1 bad ear infection, various colds and flu’s but overall her chronic infections have been getting a lot better. I spoke to the doctor about trying to decrease the amount of meds she is on. The doctor said to stop giving her the bactrim but would have to restart it in the fall. However, if she develops an infection I am to contact her right away. However, because Chloe’s allergies are getting worse we had to increase the Zyrtec to 10 mg once a day. The great news is Chloe does not have to go back until September. Yippee! My fingers are crossed that Chloe will stay infection free for the next 6 months and will not have to go back to be seen.
Brady also saw the immunologist. He has allergies and asthma. He is taking flovent, Zyrtec and Albuterol (when needed). Brady will have to go back in for a recheck this April.
Next week, both kids will see genetics and Chloe will see her developmental doctor. I am also hoping to have great feedback that I can share with you all.

Today

2010-03-01T17:39:00.006-05:00

Helen Keller made an empowering remark on her disability: “I am only one, but still I am one. I cannot do everything, but still I can do something; and because I cannot do everything, I will not refuse to do something that I can do.” This powerful quote has a special meaning to me. As most of my readers know, I am a mother of two children with special disabilities. My 7-year-old daughter has a rare syndrome called Heterotaxy, Polysplenia Syndrome and my 4-year-old son has Atypical Autism. I often tell my children to believe in themselves and they can accomplish anything and to never let their disability get in their way. I also tell people that a disability or a syndrome does not defines who they are. What defines my children are their sweet enduring personalities. I firmly believe that if you have confidence in yourself and work hard, you can accomplish anything!

My daughter Chloe is special not because of her syndrome but because of who she is as a person. My daughter is my champ; I have such admiration for her! She is wonderful little girl with a unique personality. She leaves an impression on everyone she meets. Chloe does not let her health disability get in her way. However, she does have learning disabilities not otherwise specified (LDNOS) and at times, it is challenging for her, especially when she misses a lot of school. She struggles in school but her father and I do our best to help her. She also has a great support system in place within the school system. It also helps that Chloe has a good individual education plan (IEP).

My son Brady on the other hand, struggles with a language and social delay. He has a hard time expressing his feelings and wants. We attempted to toilet train Brady this year. However, it was too much for him and Brady became very anxious and started to stress out a lot. We are giving toilet training a break for now and will attempt it again in the summer. Brady still has a hard time interacting with other children especially if the other child is tough in nature. He does not know how to handle a situation yet where the other child is intimidating him. This is a work in progress but compared to where he was a year ago he is a different, much improved little boy. He now communicates in short sentences and can verbally ask for things. His eye contact has improved dramatically. My husband, mother, Chloe and I all worked very hard on his eye contact. It took a good year and half but we did it! I owe a lot of gratitude to Early Intervention and ABA therapy. It is so important to have these services in place to help our child. My family has learned so many important techniques that we faithfully use to help Brady. Raising children with disabilities is a team effort. It is so important to have a working relationship with your child’s doctors, teachers, therapists, family and friends.

Because of Chloe’s syndrome and Brady Atypical Autism, I realize that the human body is so very complicated. I have spent countless hours researching the internet, and reading blogs to learn as much as I can. I have also learned so much from my children. My kids have taught me what it means to be a mother.

I believe that all my life experiences have been necessary in bringing me to the point where I am at today. I have learned not to concentrate on the negative but solely on the positive. And thankfully I am slowly finding that happy medium in my life. I hope this new outlook on life will stay with me throughout the coming years. I believe God sent me my children to learn from them, to make me a stronger, more compassionate, and a better person. I feel this is what my calling in life is all about to be Chloe and Brady’s mom.

My very first fundraiser

2010-02-26T19:56:00.002-05:00

I am doing a fundraiser for Heterotaxy Hope Organization (H2O). I will be selling 2.25 ounces, the most delicious chocolate bar you ever ate. The flavors are milk chocolate, Peanut Butter, Crisp and Dark Chocolate. I will be selling the chocolate bars to family, friends and co-workers. I just wanted to share with you all that this is my very first of many fundraisers that I will be doing. Wish me luck!

Heterotaxy

2010-02-02T17:33:00.000-05:00

Children with Heterotaxy may have mild to serve Congenital Heart Defect. Congenital Heart Defect Awareness Week February 7 – 14…The H2O Survey is available to fill out…Please contact me or visit the Heterotaxy Hope Organization (H2O) on Facebook for additional information…. Please remember to wear Red to Show your support on A DAY FOR HEARTS – CHD AWARENESS DAY IS ON FEBRUARY 14.

HETEROTAXY NEWS

2010-01-23T13:21:00.004-05:00

The H20 Heterotaxy Survey for UNC is ready for you to fill out. Please go to the Yahoo group for information about the link and password. If you aren't on the Yahoo group, then send an email and I will send the password to you. If not than you can join our support group. Please see the link noted below.

http://health.groups.yahoo.com/group/asplenia_ivemarks_syndrome/?v=1&t=search&ch=web&pub=groups&sec=group&slk=1

Email: heterotaxyandchloe@yahoo.com

Note to Heterotaxy Community

2010-01-08T10:18:00.001-05:00

To all my heterotaxy friends. Our non profit heard from researchers at UNC. They want to study the linkage of heterotaxy and PCD. They are sending us a list of survey questions and we will be posting an anonymous survey sometime next week. This could be a great step for the heterotaxy community in building a working relationship with researchers. Please keep an eye out for the survey, and pass along this info.

If you would like more information please contact me direct.

Handwashing Tips

2009-10-27T20:35:00.012-04:00

Last night, I gave out a packet of Antibacerial Wipes with a goody bag of Candy for Halloween. I wanted to remind parents and children to wash their hands before eating the candy.

Here are 3 helpful weblinks from the CDC on Hand Washing Tips
http://www.cdc.gov/nceh/vsp/pub/Handwashing/HandwashingTips.htm
http://www.cdc.gov/Features/HandWashing/
http://www.cdc.gov/ounceofprevention/docs/oop_brochure_eng.pdf

Finding An Answer

2009-10-27T20:35:00.005-04:00

I find my self still struggling to find answers to my questions. It is so frustrating to parents when certain things happen that we have no control over. Chloe was hospitalized on Sunday and was released today. She has pneumonia again. At this point, I have lost count on how many pneumonias she has had. Chloe also had a really bad ear infection 2 weeks ago. These chronic infections that she keeps having are very worrisome to me.

From a doctors words today, “Mrs. Luis, I have no answers as to why she keeps developing infections. But, we hope to find out why”.

Chloe next week will be seeing her doctors at Childrens for follow ups. It is my hope that one of them will have an answer that I desperately want.

Heterotaxy Hope Organization (H2O)

2009-10-24T10:04:00.002-04:00

I am happy to report that our non-profit name as officially changed from Right Isomerism and Asplenia Network (RIANS) to Heterotaxy Hope Organization (H2O). I love the name change! It is all about hope for the future for the Heterotaxy Community. One of the foundation goals is to raise awareness among medical professionals. It is so important to have a network of doctors who truly understand what Heterotaxy is. Many times parents have to fend for themselves. I know from experiences that it is hard to find a specialist who has worked with a person that has Heterotaxy. Another goal that we have is to be able to provide a medical alert bracelet to children who have Heterotaxy. As you know, the anatomy of a person with Heterotaxy is unique. I cannot express to you parents how important it is for a child to have a medical bracelet especially if you or your child are in an accident and cannot speak. I also hope that within the next few months our nonprofit organization (H2O) will have a website to help guide parents.

I am currently researching grants for our nonprofit organization. If any of you have ideas or know of any companies please email me so I can look into it.

As I always say, it only takes one person to spread the word. Please help me in spreading the word and bringing awareness to Heterotaxy.

Heterotaxy

2009-09-27T00:15:00.004-04:00

This is a great website that describes Heterotaxy.

http://heterotaxy.org/what_is_heterotaxy.aspx

RAINS – Right Atrial Isomerism Network Syndrome

2009-09-02T16:23:00.019-04:00

We now have a non-profit organization for Heterotaxy (RAINS – Right Atrial Isomerism Network Syndrome) - to help other children like Chloe. I am so proud to be a board member. This foundation is very dear to my heart & means the world to me. Look for the website in the coming months. We have a lot of work to do but I am sure that all of the us will achieve our goals.

Chloe started 1st Grade & Junes encountrer with Swine Flu

2009-09-02T16:23:00.013-04:00

Chloe started first grade today. She has been talking about going to school for the last 2 weeks. Chloe looks forward to playing and socializing with other children. On the other hand, I am not looking forward to the school year. I dread flu season especially this year with the Swine Flu lurking around the corner. It is even harder because our family has already had an encounter with one of the Swine Flu Strains.

It was right before school ended for summer session in June when Chloe came down with Flu A and pneumonia (6th pneumonia to date). I will never forget that day. The memory and the fear will always stay with me as reminder how vulnerable children like Chloe are.

It was a Sunday morning and I woke up at 5 am because Chloe was coughing non-stop with a fever of 101.6 As most parents know, with a child who has Polysplenia with Functional Asplenia, 101.6 is a high fever that needs medical attention. I immediately called the immunologist on call at Childrens, took Chloe to the ER, and called my middle sister to meet me there. I also made sure that I had Chloe’s fever plan & her medical book so they would know how to take care of her. (I cannot stress enough how important it is for a parent to have a Fever Plan for a child with Asplenia or Polysplenia. In addition, you should have a notebook with your child’s medical records.) Within 15 minutes I arrived at the ER and shortly after they called, Chloe’s name and we went into her room. Right away, I kept telling the doctor that it was pneumonia. I told him, “By now I know when her cough sounds like pneumonia”. They did an x-ray and it confirmed that she had pneumonia. At that time, I requested they test her for Swine Flu but the doctor said that the CDC was no longer testing for Swine Flu unless she was to stay over night. However, I knew how to get around that so I requested a flu culture. The ER doctor said that they certainly could do that. However, I got the feeling the doctor thought I was being paranoid. Nevertheless, I did not care what he thought. I was going to listen to what my gut was telling me and I wanted the culture!

After a short time once the culture was done, the nurse came in and said that the doctor was speaking to the immunologist at childrens. The nurse also stated that the doctor would then be coming in to speak to us. In the meantime, Chloe received an IV with fluids and sugar along with a strong antibiotic injection in each thigh. The nurse explained that the injections are one of the strongest antibiotics that they have and it they use it on patients who have Meningitis. I knew my gut was right because of the extra steps that the ER was taking for Chloe. The doctor came into the room and said that the flu culture came back positive for Flu A.

My heart was breaking for Chloe. She was so sick and the poor thing had to endure blood work, two injections, IV, and a flu culture. When the Phlebotomist had to withdraw blood, Chloe had a melt down; she screamed hysterically, gigantic tears streaming down her checks, her green eyes deepen in color like a emerald stone, and she curled up into a fetal position to protect and comfort herself. She did not want anyone to touch her especially if pain was involved. Chloe also bit my middle sister’s finger when she tried to hold her down.

Chloe kept asking me repeatedly, “Why mommy”. Those words were like daggers stabbing into my heart. I hugged her and did my best to console her after her ordeal. I promised her that I would buy her two brand new Barbie Dolls and anything else she wanted. I cannot blame her for the melt down. Chloe had every right to break down in that hospital room. I told her that sometimes we had to have pain in order to make us better. You know life is not fair especially when our little ones have to suffer. Even though Chloe had a melt down, I still admire her; she is the sweetest little girl and has a heart of gold.

The ER doctor said that she would be going home. However, the ER doctor also said, if Chloe seemed as she was getting worse, we would have to bring her back into the ER. In addition, we should follow up with her doctor at Childrens. The doctor treated it as Swine Flu because the culture came back positive for Flu A. As we arrived home, the immunologist contacted me and the specialist prescribed Zithromax and Tamiflu. And wouldn ' t you know it by Tuesday my son Brady, my mother, and I were also prescribe Tamiflu.

I wanted to share Chloe’s experience early this summer but had a hard time with it. I did not want to relive this experience again especially if I had to write about it. However, I owe it Chloe to share her experience for others to know that we need to listen to our instincts when it comes to the wellbeing of our children who have Asplenia or Polysplenia Syndrome. Above all, we our childrens number one advocate.

As the day goes on, my mind wanders to Chloe and hope that her first day of school is going well. Even though Swine Flu is lurking around, I still need to find that Happy Medium and trust that she will be okay. I need to trust that she understands to wash her hands, use her hand sanitizers, stay away from people who appear sick or who are coughing and let her teacher know if she feels ills.

(PDD NOS) Autism & Brady

2009-08-14T15:51:00.002-04:00

It has been almost a year since I started to notice certain signs of Autism like behavior with my son, such as, having a fixation with anything sticky, balls, not responding to his name, ignoring the world around him, and not speaking. Like most mothers, I wanted to ignore what I saw. I was not ready to come to grips with the idea of him having anything wrong with him. I kept telling myself that this was temporary and he would grow out of it. However, I knew the day would come when I could no longer close my eyes to what was in front me.

At my son’s last physical, his doctor handed me a questionnaire to fill out on developmental milestones. As I sat in the chair filling out the questionnaire, I started to realize that my son might have certain delays, especially in communication and social skills. When I finished with the questionnaire, the doctor took it to add up the points. I remember the look of concern on his face. The doctor explained to me that the questionnaire indicates that my son may have delays. He also gave me the number to our local Early Intervention so that I could have him tested for delays.

I knew at that point that I could no longer neglect getting my son help for his speech delay. I called Early Intervention and gave them all the information they asked for. I set up an appointment with them to have him tested. Within one month, he was tested and started speech therapy. Shortly after her sessions with my son, the speech therapist approached me with her concerns that Brady showed some signs of having Atypical Autism also known as Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS). She suggested that I have further testing done on him. My middle sister and another family member had already approached me before about the same concerns that his speech therapist had. However, that moment in time, I was going through the stages of denial and I was not ready to face the truth. I knew that Brady had speech delays but I wanted to overlook everything else.

Yes, I saw the flags but I wanted to overlook what I felt deep inside of me. I was not ready to come to grips with the reality of my son having a problem especially if it had the word Autism tied to it. Looking back on it, I now know it was selfish of me to have those feelings. What I did not understand is that by disregarding what is in front of me only hurt my son. In truth, it was not about me but about my son. I knew that I could no longer close my eyes to it and had to do whatever I could to ensure that my son would pull through.

The day had finally arrived. It was the day of a cousin’s baptism and the family was having a barbeque in her honor. I opened my eyes and I started to notice how different Brady was from other children his age. Brady did not want to play with the other children. Brady wanted to hide away from everyone. Brady did not seek attention from me like the other children his age. Brady was very quiet and not talkative. There was also no eye contact with Brady. These were the facts that were right in front, and these were the facts that I would come to grips with that summer day in August. I will never forget that day as long as I live.

I spent the next few months sorting out my feelings after the baptism. I had new emotions that I was dealing with. Not only did I have a child with a medical condition but it also appears that second child may have some form of Autism. I had a lot of guilt to work through. It was my fault because Chloe had Heterotaxy, Polysplenia. It was my fault because Brady may have Autism. I must have done something wrong! It must have been the fertility drugs that I took that caused my children to have disabilities. I finally was able to put aside the why me’s and I prepared Brady’s paper work to be sent to Children’s Hospital in Boston. During this time, I also started to notice that Chloe was having a hard time at school so I also sent in paper work for her to be tested. I remembered holding the finalized paperwork in my hands. I held onto it for a very long time before mailing it. I knew once I mailed out the paper work there was no turning back. I would soon have my answers to what is going on with both my children.

Surprisingly, Chloe was the first one to be tested. I was told that it would be 12-month waiting period for Chloe. It only took 4 weeks to get Chloe an appointment. I think it helped that Chloe is seen by genetics at Childrens on the same floor as Developemental Medicine. After Chloe was tested, my husband and I were notified that Chloe has ADHD and Learning Disabilities Not Otherwise Specified. Since then, Chloe is now receiving extra services in school and has an IEP.

Brady would be tested next within 6 weeks from mailing out the packet. I remember how nervous I was driving him. Brady on the other hand was happy to be going for a long car ride. However, once we arrived at Children’s, his mood changed. He was no longer cheerful but cranky. We waited patiently to be called and Brady kept himself occupied. However, when it came time to enter the room Brady protested and cried. He did calm down and was able to find comfort in a ball that he found. Brady held onto the round ball tightly and would not let go. The round ball soothed his nerves. He even tried hiding the ball in his shirt so that no one would take it on him. Nevertheless, the therapist took away the ball from him and he lost the only thing that was consoling him. He then tried to hide under the table. Yes, Brady did have a hard time during his session and even cried when the doctor looked in his ears. He even tried jumping off stairs. At that moment, the doctor advised me to be careful with him because Brady has no fear. The testing felt as if it lasted forever and I was relieved when it was over. I did have an awful feeing when I left. My gut was telling me that Brady had a form of Autism. I tried my best to not to think about what had just transpired. I tried not to think about it again until our next appointment.

Five days passed and I went back to Childrens Hospital and met with the doctor. He delivered the news that I was dreading for so long. He said that Brady has Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS). Also known as Atypical Autism. The doctor explained that a child may exhibit some signs of Autism but may not have all symptoms associated with classic autism (this is also a less severe condition than Classic Autism). I can honestly say that I did not take the news very well and was in shock. However, I was able to pull myself together and started working on getting services for my son. Today, Brady has ABA services 4 times a week 2 ½-hour sessions. He is also going to Pre-school for children with learning disabilities where he receives speech and OT. I know it is a long road ahead but I am confident that with intense services before the age of 5, that Brady will be able to have a normal life.

In the meantime, my younger sister had her 6-year-old son tested and he has Pervasive Developmental Disorder (PDD) also known as classic autism. In addition, my other nephew as ADHD and one of my nieces has ADHD and Auditory Processing Disorder (APD). It seems has if there is a strong genetic component on my side of the family. The doctor explained to me that certain Gene Variations maybe linked to ADHD, Bipolar, and Learning Disabilities. We also found out that Brady has a micro duplication. It also turns out that I also have the same micro duplication that Brady does. I told the genetic doctor that as a child I was very hyperactive and did struggle through school.

I often tell people that a syndrome or disability does not define my children. My children are caring beautiful sweet enduring children for whom I love – those qualities are what define them. I truly believe that my calling is to be Chloe and Brady’s mom. I am their number one fan, advocate, and I have dedicate my life to them - to find answers, to document our experiences in this blog and to do what ever it takes to make life easier for them. Yes, at times it maybe hard to find a happy medium but nothing is impossible. I truly believe that we can do anything if you put your mind to it.

Today, Brady has come a long way. He is a different child from last year. With speech services, Brady is able to communicate to us. It was right after his third birthday; he called out to me “Mommy”. It was such a hug milestone and it meant so much. With ABA services, my son asks for tickles and chocolate milk and he is starting to express to us what he wants. He also has some eye contact and responds sometimes to his name when I call him. I strongly believe it was because of the services he received from Early Intervention and ABA Therapy through Children Making Strides that he has come a long way. However, it is not enough. We need more services for children with Autism. We as parents need to be our child’s advocate. Please help me in spread the word for the Autism Insurance Reform Bill in Massachusetts (House No. 3809). For more information, please visit the website noted below.

http://www.autismvotes.org/site/c.frKNI3PCImE/b.4432481/k.90A7/Massachusetts.htm
http://www.autismvotes.org/atf/cf/%7B2A179B73-96E2-44C3-8816-1B1C0BE5334B%7D/Arguments_for_private_insurance_%20coverage.pdf

Taking a Break

2009-07-14T23:40:00.002-04:00

I am sorry that I have not posted but I am taking a break for now. The kids keep me busy and it has been one thing after another. I will write about next month.

Another Pneumonia/Influenza A

2009-06-19T14:47:00.004-04:00

Chloe has pneumonia. This makes it her sixth one to date. We went to the ER on Sunday. They also did a flu culture on her and she has influenza A. I came down with it too and after a trip to my doctor’s office on Tuesday she put me on Tamiflu. My son’s doctor put Brady on Tamiflu as a precaution. Chloe had a re-check today and her temp was 99 and is still coughing. Chloe is on Zithromax and Tamiflu.

KIDS UPDATE

2009-06-06T13:31:00.005-04:00

Yesterday both kids had appointments at Children’s Hospital. The first appointment was ENT. Everything went well until her doctor tried to pull out the tube that was not in place anymore. The doctor attempted to go in with a pair of medical tweezers but she was not successful in pulling the tube out. It was very uncomfortable and scary. Chloe freaked out and started crying. The ENT specialists stopped right away and decided to email her GI doctor to see if they can arrange a date so she could both procedure together (taking the ear tubes out and GI test to measure the acid in her stomach).

Brady was next. He did very well up until the moment she looked in his ears. Like any three old would, he refused to have her looking in his ears. The doctor called in an assistant to help hold his head. She finally got to peak in his ears and everything was good. The tubes were in place and working.

The Childrens next ENT visit will be in 6 months. Both kids will have their hearing checked at that time.

Right after the ENT visit, Chloe went to have blood work done. I should have prepared Chloe for it but I did not. Chloe’s last experience with needles did not go very well. As soon as she realized where we were going, she started to cry hysterically. My husband and I did our best to comfort and try to calm her down and we promised to buy her anything she wanted but nothing worked. Chloe had a melt down. She curled up in the corner of the lab room. Chloe was in tears and screaming that she was not letting them take her blood. My heart was breaking and I wanted to cry along with her. Older children were coming up to Chloe showing her where they drew blood and telling Chloe it didn’t hurt but Chloe knew better. Chloe has gone through this numerous of times and has not reacted like this in a very long time. However, the memory was still fresh from two weeks ago where the young RN nurse dug into her arm to place IV because she was dehydrated. I felt as if parents were looking at me and thinking that I was a terrible mother; as if I was not doing enough to console my daughter. But what do you say to child that has had enough? I empathized with what Chloe was feeling. Yes, I understood why she had her melt down. I think that Chloe needed to let it all out. Life is unfair at times especially for kid like Chloe. It was unfair because Chloe wanted the medicated cream so it would numb the site where they would draw the blood. However, the medicated cream needs prior authorization from the doctor ordering the lab work. I did try calling the office but her immunologist had the day off and I had forgotten the doctor mentioned it me on the phone when we had discuss the blood work. It was also unfair because why should she have to go through this ordeal again. In reality, it needs to be done to keep her healthy; to ensure that nothing is wrong with her. However, to a six-year-old little girl whose been poked at throughout the years, it did not make sense. They called Chloe’s name; she stood up tall and stopped crying. She asked that her daddy come with her and she proceeded to the room. I was hurt that she wanted daddy instead of me. I had tears streaming down my cheeks. I did not want anyone to see me cry so I took Brady and myself to the girl’s bathroom to compose myself. I also did not want Chloe to see me crying, I had to be strong. When she came out, she was angry with me. She expressed to me how much she hated me and said it was my fault. I told her that I was sorry and said it was okay to be mad with me but that I loved her. I gave her some time to collect herself. As we were walking away from Childrens Hospital , I told Chloe that I was hurt of the words she used. That hate is a strong word. I told her that it is okay to be mad that life is unfair but sometimes we had to do things we do not like. I asked her what I could do to make it up. Chloe responded I would like a nail polish toy set that I saw at TJ Maxx and I would like to go out to eat. I said yes without hesitation.

In-between doctor’s visits, we took a walk to Fenway Park and went out to eat. It was nice and the weather held up. I love the moments in life where I just spend it with the kids and my husband. For me, the golden moment that day was when my kids were smiling and laughing because they were content. You know, it was a happy moment that made the bad stuff just disappears. Those blissful moments are the moments that I hope my children will reflect on later on in their adult life.

As we walked back to our last appointment at Children’s, Chloe wanted us to reassure her that she was done for the day. I said yes and it was Brady doctor’s visit. She sighed with relief and said GOOD. Brady’s Genetics appointment went well. The appointment took about 2 hours and the doctor took a detailed family history. It looks as if both sides of the family MAY have a genetic component. My side of the family has children with learning disabilities, speech delays, ADHD and Atypical Autism and on my husband’s side; it is ADHD and speech delays. Diniz and I both have our blood work on archive from last year when Chloe’s genetics doctor ordered it so Brady’s doctor would be able to compare it to his micro duplication. They will also be comparing my nephews DNA to Brady’s. Tyler has recently been diagnosed with PDD NOS (Atypical Autism). It will be interesting to see what the outcome will be.

We ended with a trip to TJ Maxx where I bought Chloe her nail polish toy set. Chloe thanked me for buying it for her. I told her there is no need to thank daddy and mommy. You were a brave little girl and this is the least that we could do. I told her that she could go ahead and pick another toy out. Chloe said no that she did not need anything else and could not wait to go home and paint her nails.

Congenital Heart Defects (CHD)

2009-06-03T21:19:00.003-04:00

I tend not to write about Congenital Heart Defects. This is a subject that I shy away from. Chloe is extremely lucky because she only has a few minor heart/vascular defects. As far as we know, Chloe has a no signs of biliary atresia or intestinal malrotation. I guess that why doctors had a hard time detecting heterotaxy until she was five years old.

I do not really understand or know too much about Congenital Heart Defects. It is very hard and complicated to understand. However, I did find two links that you all can read. The first on is Systemic to Pulmonary Artery Shunting. The second one is a where they are making a documentary on CHD.

http://emedicine.medscape.com/article/905950-overview
http://www.someoneelsesfilm.com/

It is so unfair

2009-06-01T16:14:00.005-04:00

One of the hardest things about belong to a support group is hearing the sad news from a parent who lost their beloved child from this multifaceted syndrome. I find it hard to finish reading the heart wrenching posts from parents. It is just so unfair. I also have a tough time dealing with the fact that so many babies who are born with Heterotaxy Asplenia or Heterotaxy Polysplenia won’t get a to make it to their first birthday. A couple of weeks back I heard the heartbreaking news that another baby lost their life due to complications after BT Shunt surgery. My prayers and my heart go out to the family. I wish I knew the right words to express to her how sorry I am for her loss.

Memorial Day Weekend – Family invaded by the Stomach Virus

2009-05-26T07:00:00.000-04:00

Chloe has the stomach bug last Thursday. Poor baby vomited 11 times. My husband and I did our best to keep her hydrated and forced her to take sips of water. However, on Friday, she was not herself; Chloe had no energy, was sleeping a lot and would not drink or eat. I took her to the ER and they gave her an IV with some sugar in it and did blood work. They also gave her a medicine to stop vomiting. She screamed hysterically and pleaded with them not stick her with the needle. Thank goodness, my younger sister was with me. Chloe was in agony over the needle that she bites my sister’s finger. It was very heartbreaking. The blood work did show that she was dehydrated and her sugar was low. Shortly after receiving the IV Chloe regained her strength and started up conversation with anyone who came into her room. I promised her that I would buy her a new Barbie for being a strong little girl.

Since Chloe was feeling well we had decide to go away for the weekend. I know you all must think we are nuts for going away this weekend but I did not want to let my daughter down. Chloe was upset over the thought of us cancelling the weekend get a way. She has been looking forward to it. However, I knew that my son would come down with it next. However, my husband and I decide to take the chance.

Then on Saturday, Brady came down with it: exactly at 11 o’clock that night. I was lying down with him trying to get him to sleep. He was so cranky and had a hard time falling asleep. Then all of the sudden Brady vomited all over my hair and clothes. I wanted to vomit myself but I had to react quickly and call for my husband to help. My husband and I stayed by Brady’s side all night and early that morning we ended up in the ER with Brady. We had gone away with another family so Chloe was able to stay behind while we brought Brady into the ER.

I will remember this Memorial Day weekend for a long time. Even though the Stomach Bug invaded our family, we did try to make the best of it. Yes, we hit some rough patches along the way but the kids really did have fun. Well at least when they were not vomiting or being stabbed with needles.

By late Sunday afternoon, both kids were feeling 100% better. Chloe did not want to leave and gave us a little bit of a hard time. I told her that we would be going away soon and she came around.

EARLY INTERVENTION

2009-05-20T21:05:00.001-04:00

My son Brady will soon stop receiving Early Intervention. He will be turning three this week. My family has been extremely lucky with the valuable techniques that were provided to us. I owe a lot of my son’s progress to Early Intervention. Early Intervention offers remarkable services to parents, caregivers and for children under three, who have disabilities or developmental delays.

If your child receives a diagnosis of a disability, or has a development concern at birth, or soon thereafter; then early intervention will teach you important tools for developmental gains. This will only work if there is a team effort. Families really need to implement the techniques that Early Intervention shows you. Early Intervention will also provide parents with up-to-date information.

Early Intervention is a wonderful program that has helped my son out because he now is starting to vocalize to me what his needs are. I will miss our weekly visits with my son’s speech pathologist. She has left an impression on my family and I know that we will never forget the “building blocks” she has taught us.

FLU PRECAUTIONS

2009-05-01T08:36:00.000-04:00

These are trying times for parents with children who have health issues. I am trying to stay focus and not let the fear overcome me. However, I have taken certain precautions to ensure the safety of my daughter.

Steps that I have taken:

*I gave Chloe a lesson on washing & drying her hands
*Talk to my daughter about the Virus & to be weary of people coughing & sneezing
*I sent a letter the school
*I went out and bought cleansing & purell supplies for Chloe’s Classroom
*I contacted Chloe’s immunologist
*I packed extra hand sanitizer in Chloe’s bag pack
*I have been using bleach and water to wipe down knobs, the kitchen and bathroom
*I put copy of Chloe’s fever plan in my pocket book and car

ADHD

2009-04-11T08:36:00.028-04:00

Last Wednesday I went to a presentation on “ADHD – A Clinical and Research Update". The DMC ( Developmental Medicine Center ) Forum Committee - Children’s Hospital Boston, hosted the presentation.

Leonard Rappaport, MD, MS is the Chief of the Division of Developmental Medicine, Children’s Hospital Boston Director, and Developmental Medicine Center of Children’s Hospital in Boston . In the introduction, the person stated that the doctor directs one of the world’s primary centers for the identification and treatment of children with assortment of developmental, behavioral, and learning disorders. He is an author of numerous research reports, chapters, and reviews. In his lecture, the doctor talked about current understanding of ADHD.

Dr. Leonard Rappaport explained to the group, the various symptoms that maybe associated with ADHD such as; impulsivity, distractibility, poor selection, impersistence, insatiability, poor monitoring, and attention in motivation dependency, inconsistency, and hyperactivity. In his speech, he emphasized that these are negative words! He told parents to recognize what our child’s strengths are and to emphasize upon them. Every child with ADHD is unique and there may be different signs that vary with each child. The most important comments I thought he made was for parents to look at those negative words a different way and to implement “Behavioral Management Strategies”. If your child has ADHD, a parent should have parental training in behavioral management strategies. A parent learns how to work with their child and learns helpful behavioral techniques. Some of the “Behavioral Strategies” are using rewards, praising positive behaviors & ignoring negative ones, time outs, communication and so on. This would begin with small steps and over time, the steps increase. Parents must be consistent in order for these strategies to work.

In a slide presentation, the doctor spoke about each negative word associated with ADHD and next to the negative word, he had the opposite meaning:
←CLOSE TO→
Impulsivity - Productivity
Distractibility – Creativity
Poor Selection – Alternative Thinking
Impersistence – Knowing when to move
Insatiability – Ambition
Poor Monitoring – Getting things done

Dr. Leonard Rappaport spoke about how important it is to reward our children when they do anything good. Parents should set up an award system for their children when they accomplish a simplest task, or the simplest positive behavior. He also pointed out that children with ADHD thrive on rewards because of the dopamine (neurotransmitter) in the brain. My sister has used this method in her parenting and it seems to work for her children. It especially works for her middle daughter – she has ADHD. My sister has a fun box and she fills it with play jewelry, candy, games, and crafts. At the end of the day, if they behave or did a good deed she rewards them with a star. When her children reach 10 stars then they go ahead and pick a reward from the fun box.

Finally, the doctor spoke about medication for children with ADHD. He said that the decision to medicate a child with ADHD should be an agreement between the child, the parent, and the physician. He also spoke about finding the right stimulant medication for your child. The doctor stressed the importance of monitoring your child’s behavior and performance once the medication begins because of the effects of the medication. I disagree; it is my belief that the choice to medicate a child with ADHD should be solely up to the parent. In my daughter’s case, she has a rare medical condition and is already on so many medicines. No one honestly can tell what the side affects could be in the future for her. In addition, I would be worried of the possible interactions with her other medicines.

The next speaker was John Gabrieli, PhD Harvard-MIT Division of Health Sciences and Technology (HST), Department of Brain, & Cognitive Sciences Massachusetts Institute of Technology. In his introduction, the person noted that he is the senior author of over 200 papers published in peer-reviewing scientific journals, including publications of Science and Nature. He spoke about the structure of the brain of a child with ADHD. It was very interesting but I found it to be a little complicated. I have to admit, I lost interest, and I found myself focusing on something else. It was then when I realized that it was easy for anyone to have a short attention span, especially when the topics are hard to comprehend. Now just imagine how easy it is for a child with ADHD to lose focus at school. We as parents should try to live one day in our child’s shoes with ADHD.

In conclusion, I found it to be a rewarding presentation. I learned a lot from what Dr. Leonard Rapport spoke about and I know that I will implement some of it. For example, I will help my daughter to learn to be familiar with and adjust to her difficulties, while recognizing her full potential. I will also set up a fun box for my daughter, so that I can award her for good behavior and good deeds.

Chloe’s Update

2009-04-11T08:36:00.015-04:00

Couple of weeks ago Chloe had a gastroenterologist appointment. The doctor increased her Prevacid from 15 mg to 30 mg twice a day. The doctor talked about having another Endoscopy and a microchip imbedded in the esophagus to measure the acid. Chloe would have to wear a transmitter at the waist. After, 2 days the information would download into the computer. The doctor explained that the microchip(capsule)would attach to her esophagus. The chip would fall off and Chloe would pass it in her stool.

A couple of years ago Chloe had Biopsies done of her stomach and Esophagus. They confirmed from the Biopsy that she had GERD and mild Esophagitis so I am a little nervous about repeating this again. I will make sure to keep you all posted when I have more information.

Yesterday, we saw a neurologist to rule out seizures when Chloe had pneumonia in December 2007 and influenza B in March 08. The doctor looked over CT scans, looked through Chloe’s medical information, and ruled it out. He said what happened is that when Chloe had a fever (101 to 102) she experienced low blood pressure. Because of the low blood pressure, it caused Chloe to be lethargic. He also stated that the reason why Chloe was in ICU last year was because of the Low Blood Pressure.

The doctor also took the time to explain to me that Chloe has mild Bronchiectasis because of her upper respiratory infections. I looked up Bronchiectasis when I got home yesterday on the internet and noted that Bronchiectasis is a lung disease from an infection that caused injuries to one of the walls of airways in Chloe’s lungs. Chloe’s lung loses its elasticity and becomes stretched out and can no longer move air in and out. I think this damage might have occurred in one of her lower lobes where the pneumonia was.

PDD NOS UPDATE

2009-04-11T08:36:00.012-04:00

My sister's six year old son received a diagnosis of PDD NOS (Pervasive Developmental Disorder, Not Otherwise Specified). I am now wondering if PDD NOS runs in my family. My parents are from the Azores and my husband parents are from the main land. Upon researching the internet today, I came across a couple of links that I found interesting.

http://www.modernmedicine.com/modernmedicine/Modern+Medicine+Now/iMETi-Gene-Variant-Linked-to-Autism-GI-Disorders/ArticleNewsFeed/Article/detail/584471
http://homepage.ntlworld.com/clifford.g.miller/Mitochondrial.html
http://www.igc.gulbenkian.pt/research/unit/29
http://www.ncbi.nlm.nih.gov/pubmed/17880640
http://www3.interscience.wiley.com/journal/118482306/abstract
http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WDT-4T3TPYB-1&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=0de74efe6f4415e53e7f536c37e9d124
http://www.blisstree.com/autismvox/the-subpopulation-of-mitochondrial-autism/
http://www.medicinenet.com/mitochondrial_disease/article.htm

Brady's Blood Test Update - PDD NOS

2009-04-11T08:36:00.005-04:00

Yesterday, we received a call from my son's Developmental Doctor. He would like us to contact Genectics to go over the results from the CGH (comparative genomic hybridization) blood test. He also wants us to make a follow up appointment with him in 3 to 6 months from the last one, just to talk about what's going on. My husband took the message, so I really don't know to much.

Letter to School

2009-04-11T08:26:00.007-04:00

This is similar to the letter I sent last year to Chloe's school. I left certain areas blank for you to copy and past it. You must change the letter around to fit your child's needs.

Dear [insert Principal’s name],

My name is [insert your name] and I am the mother of [insert child’s name]. [Insert child’s name], will be attending [insert school’s name] in [insert the month and year] for [insert grade level].

First, I would like to bring to your attention that my child has some health issues. [Insert child’s name] was born with Heterotaxy, Polysplenia Syndrome. However, even though he/she has three spleens her immunologist is treating it as Functional Asplenia. This means that her spleens do not work at 100 percent and [insert child’s name] is prone to bacteria infections. [Insert child’s name] takes a daily dosage of Amoxillin to help prevent bacteria infections. The Amoxillin sometimes does not work. [Insert child’s name] has a Fever Plan and an Asthma Action Plan for which I will supply to your nurse once I meet with her. I would like [Insert child’s name] also to have an IHCP so that your staff (teachers, subs, office staff, and nurse) will know what to do if [Insert child’s name] becomes ill. I have spoken to the school nurse and will be meeting with her before school starts in [Insert month]. I would also like (if possible) for you to attend the meeting as well as [Insert child’s name] teacher. [Insert child’s name] wears a medical alert bracelet in case of an emergency that may arise. [Insert child’s name] also has abdominal situs inversus, GERD,Chronic Recurrent Infection, [and any other medical issues. Make sure to explain what each medical issue is]. [Insert child’s name] tends to have chronic infections of the upper and lower respiratory tract, including the lungs, the ears and the sinuses, are the primary problems with [child’s name].

Second, we stress the importance of hand washing with [child’s name] and discourage him/her from close contact with sick individuals. This will help to prevent the spread of contagious illnesses. A cold for a healthy child can easily become pneumonia for a child like [child’s name].

Third, hearing loss is a common consequence of chronic ear infections with [child’s name] We monitor [child’s name] hearing closely, but at times fluid can collect behind the ear drum and cause subtle hearing changes that he/she may not be aware of. If you notice changes consistent with hearing problems like lip-reading, talking loudly, failing to respond when called, etc., please let us know. If possible, a seating assignment close to where the teacher presents information would be helpful.

Forth, because of repeated infections, kids with Functional Asplenia may have multiple absences from school. We will work with you to try to minimize the number of absences and to help with any make up work that may be required due to absences.

Most of all, I would like [child’s name] to be tested for learning disability when school starts. Just in case, [child’s name] will need an IEP for school.

If you have any questions or concerns please contact me at the above numbers noted above.

Sincerely,

Mrs. [insert your name]
Mother of [child’s name

In my daughter's eye

2009-04-05T10:00:00.001-04:00

This is one of my favorite post from last year.

I just love this song. I have the words noted below so you can read it.

Martina McBride - In My Daughter's Eyes
In my daughter's eyes I am a hero
I am strong and wise and I know no fear
But the truth is plain to see
She was sent to rescue me
I see who I wanna be
In my daughter's eyes
In my daughter's eyes everyone is equal
Darkness turns to light and theworld is at peace
This miracle God gave to me gives me strength when I am weak
I find reason to believe
In my daughter's eyes
And when she wraps her handaround my finger
Oh it puts a smile in my heart
Everything becomes a little clearer
I realize what life is all about
It's hangin' on when your heart has had enough
It's giving more when you feel like giving up
I've seen the light
It's in my daughter's eyes
In my daughter's eyes
I can see the future
A reflection of who I am and what will be
Though she'll grow and someday leave
Maybe raise a family
When I'm gone
I hope you see how happy she made me
For I'll be there
In my daughter's eyes

PDD NOS AND HETEROTAXY

2009-04-02T16:08:00.007-04:00

No two children with Heterotaxy, Autism, PDD NOS or Aspergers are alike; this statement is true in the sense that the Characteristics are different.

Children with Heterotaxy have various abnormal placements of the organs and complex vascular malformation. This is due in part from the failure to begin the normal left – right configuration during the embryonic stage of life. From what I read on the internet, the Nodal Cilia is what moves the organ in its correct place from left to right, and it aids in the development of the organs. According to the NIH, they believe that certain forms of CHD or heterotaxy may have the same genetic origin as Primary ciliary dyskinesia (PCD).

So, what are the different characteristics a child with Heterotaxy may have? A child with Heterotaxy may have mild to severe CHD, Polysplenia Syndrome, Functional Asplenia or Asplenia syndrome. Heterotaxy also has a very high mortality rate because of Congenital Heart Disease (CHD). Please see the links noted below for more information on various diseases associated with Asplenia Syndrome or Polysplenia Syndrome.

Children who have Autism, Asperger’s Syndrome, or PDD NOS have different characteristics in communication; social interactions, intelligence, and behavior. Like Heterotaxy, this is a complex disorder. However, Autism or Aspergers is a neurobiological disorder that a person may have throughout their life. Autism, Asperger’s Syndrome, and PDD NOS are a part of the group of disorders known as Pervasive Developmental Disorders (PDD). They are five disorders that fall into the category of PDD. The other two disorders are Rett Syndrome and Childhood Disintegrative.

I honestly do not know much about PDD but I have been trying to do some reading on my own. I have also contacted the DMR (Department of Mental Retardation) and Community Autism Resources in my state. I have an intake appointment set up at the end of this month with DMR. I also received three large folders from our local Community Autism Resources center. Overall, I am very impressed with the state that I live in. As of yet, I really have no complaints. Brady has Early Intervention, ABA services and an IEP meeting; all scheduled in May. Brady will also begin pre-school after his third birthday, and he will be going into our city’s school system.

What a difference between the two disabilities my children have. For example, I was so lost last year when Chloe received the diagnosis of Heterotaxy, Polysplenia. I had nowhere to turn to for help or for information; I had to search for information on my own. I did find a great support group for which parents come together for the same purpose; to find other children similar to their own. I am also now part of a foundation, which is still in the beginning stages. On the other hand, when Brady received the diagnosis, I received pamphlets on PDD NOS and direction on what type of services he should received. It was amazing to me on how many services are out there for a child with any form of PDD. All I had to do was make a few phone calls and within a week he was already set up for ABA. My hope is that someday children with Heterotaxy will have the same amount of resources as children with any form of PDD.

I am a firm believer that it all starts with one person to spread awareness and make a difference!!! And it begins with a parent reaching out to other parents. Today is Autism Awareness day so let’s take a moment to think and reflect on what it means to have a child with any type of disability, disorder or syndrome.

http://hmg.oxfordjournals.org/cgi/content/abstract/18/5/861
http://circ.ahajournals.org/cgi/content/full/115/22/2814
http://clinicaltrials.gov/ct2/show/NCT00608556
http://emedicine.medscape.com/article/896865-overview
http://emedicine.medscape.com/article/896757-overview
http://en.wikipedia.org/wiki/Pervasive_developmental_disorder

April 2nd is Autism Awareness Day.

2009-04-02T00:00:00.000-04:00

Early Intervention

2009-04-01T21:08:00.000-04:00

Brady has been in Early Intervention since August. Brady’s speech therapist is an awesome person. She is on top of things when it comes to Brady. As soon as I received the diagnosis from Children’s Hospital in Boston she already had the paper work ready for me to fill out for ABA services.

It is people like her that will ensure that our children get the services they need. It also helps that my family lives in a great state.

Brady's Update

2009-03-31T17:15:00.004-04:00

Brady started ABA services this week. As of right now, we have ABA coming to the house twice a week. They will also be adding another day of services for him. We are getting ABA services through Children Making Strides. Within 1 week of calling they started services right away...

Please see the link noted below - Children Making Strides

http://www.childrenmakingstrides.com/

HELPFUL INSIGHTS

2009-03-27T20:43:00.011-04:00

When a parent learns that, their child may have a disability, syndrome or disease they are in shock. It may be overwhelming to parents at first. However, I have some helpful hints on miscellaneous things that may help you out.

First, have a pen and a notebook ready to write down all your questions. Leave enough space in-between to put your answer down next to your question. Bring your questions to your next doctor’s visit and ask away!

Second, read any material that a doctor’s office may have provided to you about your child’s diagnosis. However, what happens if you were not provided any reading material? I would then suggest going to a Medical website or to the NIH Website (National Institute for Health).

Third, in order to deal with your child’s diagnosis, you must be able to make out what it exactly means. As you all know, Heterotaxy is very complex and it is extremely hard to understand. I would suggest breaking it all down. Take one-step at a time. Children with Heterotaxy may have other syndromes or problems associated with it.

Forth, keep a journal to put into words what this syndromes means to your family. How will it affect it your child? What does it mean to you? Who are your child’s doctors? What types of tests will my child need? Will my child need immediate surgery? What types of meds will your child are taking? Is there a Children’s Hospital nearby? What doctors will my child me seeing? Most of all, anything else you can think of.

Sixth, learn what your child’s rights are: your child maybe eligible for Social Sec. Benefits or insurance benefits

Seventh, your child should have a Medical Alert Bracelet. You will need your child's information handy when contacting Medical Alert.

Eighth, sit down with your husband and decide on an approach on how to tell your family and close friends about your child condition. You may need their help after your child is born or after any surgeries, your child may have. Also keep in mind, if you child is Asplenia or Functional Asplenia you may want to limit the amount of contact your child has.

Most but not least, it is important for you to be able to describe what your child’s syndrome is. This will insure that you are knowledgeable and accurate as you seek out specialty doctors to help your child with different areas of his syndrome. Ask many questions when you do not understand! Ask the doctor to explain further! Tell them when you do not understand what they are saying!

HOW TRUE

2009-03-23T20:31:00.001-04:00

A mother's love for her child is like nothing else in the world. It knows no law, no pity; it dares all things and crushes down remorselessly all that stands in its path."

Author: Agatha Christie

Thursday, March 19th - CHLOE AND BRADY

2009-03-20T20:00:00.001-04:00

Chloe had her pulmonary appointment yesterday. She was nervous and did not want me to answer any questions. She kept interrupting the conversation trying to get me to focus my attention on her. The nurse did ask Chloe if she wanted to participate in the conversation. In Chloe’s fashion, she said no and gave her a dirty look! Chloe then wrapped herself in the privacy curtain to keep herself entertained. When the doctor came in, he examined her. He took the time to look at her fingernails and toenails and listened to her lungs. The doctor wants to make sure that Chloe does not have any signs of clubbing. I am grateful that all of Chloe’s nails appear normal. Chloe had another x-ray done to make sure that the pneumonia was completely gone, thankfully it was. Chloe’s immunologist had contacted her pulmonologist doctor with the concerns she had. She wanted an x-ray done to make sure that they appeared healthy after her bout with pneumonia.

After Chloe’s appointment and x-ray, Brady had blood work done. Brady is having genetic testing for PDD NOS (also known as Atypical Autism). They are looking for specific genes, such as, PTEN and Fragile X. The first attempted did not go very well. When the lab tech was drawing blood, she blew out the vein, so they had to try the other arm. I was not happy with the lab tech at all. Brady was so upset and crying. I felt so bad. Thank goodness, I had my husband in the room to help me. Chloe was also in the room, she did not want to stay behind, and she wanted to be there helping her little brother. Chloe is such remarkable little girl. She stood next to Brady the whole time consulting him and letting him know that she was there for him. After the lab tech was done, she gave both kids a balloon. Brady stopped crying after he received the balloon.

BRADY & PDD NOS (Pervasive Developmental Disorder, Not Otherwise Specified)

2009-03-17T17:37:00.008-04:00

The other day, I stated in a blog entry, that a syndrome, disorder or a disability does not define my child. What makes my child is their unique personality. I love both my kids for who they are and a label does not change a mother’s unconditional love.

Recently, my two-year-old son received a diagnosis of PDD NOS (Pervasive Developmental Disorder, Not Otherwise Specified). From what I have read, this disorder neurologically based. My son will need intervention aiming at his social-commutation skills and behavior.

What is PPD NOS? PPD NOS is part of the Autism Spectrum Disorders also know as Pervasive Developmental Disorders. This is a condition in which some of the characteristic of Autism are feature - but not all. The child may only have a few symptoms. PDD NOS is also refers to as “Atypical personality development”, “Atypical PDD”, or “Atypical Autism”. Like Heterotaxy, no two children with PDD NOS are alike. Therefore, children have uniqueness about them. One child may have language delay as to where the other child has more of a social development delay and the other may not have a behavior pattern. PDD is very confusing and its terminology does not help one make sense of it all. Nevertheless, In the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), you will find PDD NOS where it describes as to having an impairment of social interaction, communication, and/or stereotyped behavior patterns or interest, but don’t meet the requirements to be diagnosed with a specific disorder under PDD.

How am I coping with it? It has been about one week since my meeting with the Developmental Center at Children’s. I am still having a hard time coming to grips with my son’s diagnosis. It was heartbreaking to hear the words come out of the doctor’s mouth. Most of all, I had a hard time grasping at the material that he was handing me about Autism. Yes, I was in shock. I was going through the motions, but it was as if I was not there. That it was someone else hearing the news – not me. My first thought, was how unfair it was. Not only does Chloe have a rare syndrome and learning disability, but now Brady also had a disorder. It was indeed a tough day for me. I knew in my hearts of all hearts that something was not right with my son. I know he has a speech delay, he likes to peel labels, and he likes to stack things, and tends to be shy around people. However, I wanted to be wrong. I wanted to hear from the doctor that Brady would out grow this; that this was only a phase. Most of all, I did not want confirmation on what I suspected.

However, I do know the sooner he gets help the easier it will be for him. Most of all, it is not about me but my son. How can I help him right now? What is my next step? Those are the questions I had. Right now, I am looking into an ABA (Applied Behavior Analysis) program. From what I have read on the internet, ABA is a proven method that will help my son with skills that he will need. The teaching method is broken into small parts so it makes it easier for him to learn. Brady, will receive a reward with every task that he meets. The positive reinforcement will also help him in maintaining the skills that he learned. Since August, a speech therapist from Early Intervention has been working with him twice a week. I do notice a difference in him. I hope it will continue and gain strength now that ABA will be involved.

Like any mother out there, I want the best for my kids. I want to ensure that life is easy for them. It breaks my heart when my kids have to face certain challenges in life. I have faith in Brady and Chloe. I believe in my children and no matter what they have my support. I will guide my children in whatever they need. I am the strongest advocate my kids have.

MY PHASES OF EMOTIONS...

2009-03-05T19:14:00.003-05:00

Parents of children with a health condition often find themselves dealing with various emotions. As a parent of a child with Heterotaxy, one may find it hard at times to ignore what they are feeling. When a parent realizes that their child has health issues, they go through different phases of emotions. I want to share with you some of the phases that I personally went through.

The first phase is disbelief. I had a hard time grasping what the doctors were telling me; “What do you mean my daughter’s stomach is on the right? How can she have three spleens?” I remember questioning everything & having a hard time believing what the doctors were telling me.

The second phase is guilt. I blamed myself for giving it to Chloe. I felt solely responsible because her beautiful little life developed inside of my body. I felt it was my fault and my guilt to carry. I know now that nobody is at fault, and that in life, circumstances happen which are way beyond our control!

The third phase is Anger. I was angry with the Ultrasound Lab Technician because she did not see the abnormalities of my unborn child. I had gone through a series of ultrasounds during my pregnancy. Why is it she missed seeing three spleens and not pick up the abdominal situs inversus? I was also angry with the doctors for not catching the syndrome sooner. Most of all, I was angry at the syndrome itself for having the nerve to inflict my daughter! It took me a while to come to grips with this emotion but I did realize that I could not change the outcome, had we found out sooner. Heterotaxy, Polysplenia is a condition that Chloe will never out grow; she was born with this syndrome. However, what her doctors and I do is manage her health conditions on a daily basis (control her asthma, GERD, allergies, and try to prevent infections).

The forth phase is jealousy. I was jealous over the parents that had normal kids. That their children have not endured what Chloe has. It was unfair to my daughter. This is an emotion: I do not like to admit because it is not a positive one. Nevertheless, we would not be human if we did not feel these types of emotions.

The fifth phase is sadness. I was sad because it made Chloe very sick at times. I was saddened when Chloe had pneumonia again, saddened because she was sick with another unexplained infection, and saddened because the flu had hospitalized her.

The sixth phase is empathy. I have such compassion, understanding, and love for my daughter because she is my little girl. I have gone through the rollercoaster of emotions with her. As a parent, I feel what she feels. There is no greater emotion than the LOVE felt for a child!

The seventh phase is optimism. I believe that having faith and having a positive attitude is important for the wellbeing of my family. This is one area that I have difficulties with but I try my best took be optimistic. I know that Chloe has a good prognosis compared to other children with Heterotaxy and for that, I am grateful.

I know that feeling emotions are a part of being human; it is how we handle these emotions that counts. We need to come to grips with our emotions and learn how to live with them. It is about finding that “Happy Medium” (and finding the right balance). I also know by writing about my experience, helps me to deal with my emotions. This is one of the reasons why I blog. It helps me to understand and deal with the concepts of having a child with a special condition.

My daughter is special not because of her syndrome but because of who she is. Chloe is my champ! I have such admiration for her. She is a wonderful little girl with unique personality. Chloe leaves an impression on everyone she meets. I owe it to my daughter and others like her to find answers and not give up. Chloe is one of the many faces of Heterotaxy.

Another Pneumonia

2009-02-27T23:00:00.001-05:00

Chloe has pneumonia again. This makes it her fifth one and she is only six years old.

Chloe had an immunologist appointment today. Chloe's doctor always takes her time when listening to Chloe’s lungs especially when she has a cold. She said, that she heard a crackling sound in her lower lobe and wanted Chloe to have an x-ray to make sure that it was indeed pneumonia. The x-ray did show that Chloe had the beginning of pneumonia.

You know, I brought Chloe to the doctor’s office on Wednesday to have her checked out because she was coughing a lot. Chloe saw the nurse. The nurse said, Chloe was fine and looked fine. I felt so stupid. I thought it was me being over paranoid. I should have listened to my gut and had them do an x-ray. It makes me mad that the nurse didn't pick up on it. I took the time to explain Chloe’s health condition. Do you think this nurse would have taken the time to check my daughter out instead of rushing the exam?

Chloe’s immunologist doctor is great. I really like her a lot. She is a Godsend. The immunologist is going to contact Chloe’s Pulmonolgist to let them know what is going on. Chloe has a Pulmonolgist appointment in March. The doctor wants her to have x-rays to see if any changes are going on in lungs because of all the infections she has had.

FINDING THAT HAPPY MEDIUM

2009-02-23T19:24:00.001-05:00

In my blog, I often write about finding that “Happy Medium” with Chloe. At times it’s hard to know when not to let your anxiety take over. I worry about Chloe getting sick. It is one of my fears that I hold inside trying to not let it get a hold of me. I want Chloe to have a happy normal childhood and that is what my husband and I strive for. But, at the same times, I want to protect her and keep her in a protective bubble.

Lately, Chloe has been showing a lot of anxiety at her doctor’s visits. Chloe also exhibits fears about getting sick. This past year, she has been making comments stating that children at school were sick, and she is concerned that she will get sick. Why has this happen? I believe it’s because of her medical history of frequent infections. I believe that the study that Chloe participated at the NIH and 5 days she spent at Childrens because of illness may have caused her nervousness of becoming ill.

So how do I go about finding that “Happy Medium” when it comes to Chloe’s fear of getting sick? Well, it starts with me. I have to overcome the fear. I know that there are certain things in life that we do not have control over. I know that what ever cards in life you are handed you have to deal with it the best you can. But, I also know that I have to instill certain precautions to help prevent infections that may cause pneumonia, sinus, ear or bronchitis. I also know that I have to be careful with certain things that may cause a bacterial infection that may lead to sepsis. Parents of children who have Asplenia, Functional Asplenia or Polysplenia understand this.

First, I need to let Chloe know that she needs to wash her hands before eating, before and after she uses the bathroom, and so on. Chloe needs to understand that everyone should do this to help prevent germs from spreading. Chloe understands that she takes certain medicine to help her stay healthy because this will help limit her infections.

Second, when it comes to her doctors appointments; I will try to converse away from Chloe. Chloe doesn’t need to hear everything but only the things her doctor and I feel that she needs to know. However, I will continue to tell her the truth and prepare for doctors visits. I feel that lying to Chloe is not good and creates more anxiety that she does not need.

Third, I will no longer speak about Chloe’s medical condition in front of her to family and friends. Children do not like to be talked about.

Forth, I will continue to listen to Chloe’s concerns and never degrade my daughter. I will continue to complement her on the smallest things she does.

Fifth, if I feel that her fears and anxiety are increasing; I will make sure that she sees a professional so she can talk about it. Sometimes, it may be easier for a child to talk about their feelings to a stranger than one’s parents.

Finally, I will continue to bring out Chloe’s strengths and emphasize on them. Chloe is a remarkable little girl who is loved by her family and friends. My husband and I are lucky to have family and friends who support our daughter. Most important, we never let a day go by without telling both my kids how much they are loved.

To be a parent is a gift in its own but, to be a parent of a child with a syndrome, disease or disability is an extraordinary challenge that God entrusted to us to take care of. People often say that Chloe is lucky to have parents like us. But, in truth we are the lucky ones to have Chloe. A friend once told me that God only gives us what we can handle…or from what we can grow and learn….perhaps you will help one other person and that is you’re calling as a mother of a very special and unique girl. Who knows? But I believe God only gives us special little ones when we are special too.

At the end, a “Happy Medium” is a work in progress that we have to work at everyday. It’s about finding the right balance and harmonizing our fears.

Learning Disabilities Not Otherwise Specified (LD NOS)

2009-02-17T20:56:00.002-05:00

Along with the Attention-deficit/hyperactivity disorder (ADHD) Chloe was diagnosed with Learning Disabilities Not Otherwise Specified (LD NOS).

What is LD NOS? This is a disorder in learning that does not meet specific criteria for any specific Learning Disorder. A child with a Learning Disorder might have problems all 3 areas (reading/language (Dyslexia), Math (Dyscalculia), and Writing (Dsgraphia)). Chloe is only 6 years old and is in Kindergarten so I think it’s hard to see what areas she might have a specific Learning Disorder in. I guess that is way they labled her with LD NOS. Anways, she will be having further testing in June and she will also be seeing a Neurologist in April.

Chloe is a pleaser and tries very hard but sometimes she does have trouble following instructions, concentrating and retaining what she just learned. I read that learning disabilities are caused by abnormality in the nervous systems that affects receiving, processing, or communicating information. I asked the Doctor if she thought Heterotaxy could cause Learning Disorders. She said, no. Children diagnosed with a Learning disability may also be diagnosed with ADHD. This is what happened in Chloe’s case. I also learned that LD NOS and ADHD may run in families.

It is very important detected and treat Learning Disabilities or ADHD early. This will help prevent low self-esteem and behavioral problems in ones child. I believe in positive reinforcement with Chloe. I always try to point out the good and never the negative. I firmly do not believe in medicating Chloe and creating new health issues for her. Chloe already has enough health issues to deal with.

If you think your child may have a learning disability you should have them evaluated by educational and mental health a professional for which includes educational and psychological testing. The team will also talk to the parents, the child and may even consult with your child’s teacher in order to help them with the diagnosis.

Attention Deficit Hyperactivity Disorder (ADHD)

2009-02-16T20:02:00.001-05:00

My husband and I had a meeting on Friday with 2 doctors from Childrens Hospital. In regards to Neurologic Development testing that was done last month. They diagnosed Chloe with Attention Deficit Hyperactivity Disorder (ADHD) and Learning Disorder Not Otherwise Specified (LD NOS).

Children with ADHD have a hard time controlling their behavior, are fearless or having a hard time paying attention. ADHD is sometimes not dedicative until a child enters school. Children may have a hard time sitting down, may even day dream or may be disruptive in his/her classroom.

Chloe is a well behaved child. I am not saying she is perfect but in her case Chloe does not like to draw attention to her. Chloe is social able and has lots of friends. Chloe is not fearless and will think twice about doing something where she may be hurt. Throughout the day she tends to be tired but at night she is very active and has a hard time settling down to go to bed. Chloe does have a hard time on focusing on tasks and seeing them through.

During the meeting we talked about stimulant medications for ADHD. I explained to the doctor that my husband and I are against it. Chloe has a Heterotaxy, with Polysplenia and the side effects are not worth the risk to our daughter. I also explained to her that Chloe is already on a lot of medication and that we are not adding one more if she doesn’t need it. The doctor explained to me that: A. Chloe would be followed by a cardiologist and B. we would make sure that the meds would not conflict with her other meds. My husband and I explained to the doctor that we strongly believe that there are too many side effects. Therefore, we are not putting her on any stimulant medications.

The side effects of the stimulant medications may vary depending on the dosage or type of medicine. I also know that the most common side effects are loss of appetite, insomnia, increased anxiety, and/or irritability. Studies have also reported children with mild stomach aches or headaches. The most important fact to me is that there are serious side effects that parents with a child with Heterotaxy should know about. I read on a website that according to the FDA 27 children died suddenly from 1992 to 2005 because of undetected heart problems. Did you know that some of the serious side effects are irregular heat beat, sudden death and low or high blood pressure?

I believe in a different approach when it comes to dealing with Chloe and ADHD. With Chloe we have always used the rewards system, positive reinforcement, and love. I believe it’s because of our approach that we don’t have a child with behavioral problems. I don’t see the need to putting a child with a Cardiovascular defects on a stimulant med for ADHD because these minor or serious side effects are not worth the life of my child.

For more information please see the link noted below:

http://www.mayoclinic.com/health/adhd/DS00275/DSECTION=treatments-and-drugs

Chloe's New Job

2009-02-02T18:22:00.003-05:00

Chloe has her own nail salon. Her customers so far consists of her 2 grandmothers. They use to pay her a dollar for the manicure. Today my mother asked Chloe if she was going to do her nails.

Chloe: Vovo today is very expensive. You should wait for tomorrow it will be a lot cheaper. My prices have gone up.

My mother: Chloe what is the price for tomorrow?

Chloe: Four Dollars.

My mother: it has gone up a lot. What happen to the dollar?

Chloe: I have to feed my piggy bank. It is hungry.

SEPSIS

2009-01-22T17:23:00.011-05:00

If you have Heterotaxy with Polysplenia, Asplenia, Functional Asplenia or any spleen abnormalities you need to be careful with sepsis. A fever plan is extremely important and a must need for children with spleen abnormalities. Children with spleen abnormalities may not have splenic function. Certain signs of sepsis are low blood pressure and fever. For example, a high fever for Chloe is 102. If Chloe reaches a fever of >102 and has signs of a serious bacterial infection, she should have a CBC, Blood Culture, and ceftriaxone x 48 hours. If your child shows sign of having sepsis take them immediately to an ER and bring your letter so they can treat your child at once. I can only stress to all you how important for our children to have the right medical care when sepsis is involved. These children sometimes are failed by our medical community and are not taking serious.

One parent in a support group I belong with lost her little boy due to septic shock. It is so important for our medical community to understand really what having a child with Asplenia or Polysplenia is. I am a firm believer of having Chloe on an Amoxicillin Prophylaxis. However, this is only a prevent measure but it is not guaranteed. Your child’s doctor really needs to understand what Heterotaxy means and the syndromes that go along with it. Your child’s life may one day depends on it.

I am upset over the loss of this little boy. I cannot not even begin to imagine what this mother is going through. My heart goes out to her and her family. As a mom she did everything right but the medical community did not do enough to protect her little boy. Parents please make sure that you have a fever plan for your child. You should also make sure that medical alert has a copy of this letter. You can also make sure other family members or close friends have a copy of the letter. You can also keep a copy of it in your car or pocket book. Your child's school should also have a copy of this and every teacher, teacher’s assistant, nurse or office staff should be aware of your child condition.

John Travolta said that we should treasure everyday that we have with our children because we never know what tomorrow may bring.

Spleen

2009-01-08T16:14:00.002-05:00

Did you know that the spleen is an important lymphatic organ? The spleen processes lymphocytes from incoming blood. In other words the spleen filters out the old red blood cells . The spleen is a spongy, soft organ and it is about the size of ones fist. Normally it is located on the upper left part of ones abdomen, just under your rib cage. In Chloe’s case she has 3 separate splenic nodules for which are located adjacent to the right stomach in the upper quardrant.

I added a link below if you want to read more about spleens.
http://heterotaxypolysplenia.blogspot.com/2008/03/what-is-heterotaxy.html

Situs Ambiguus, Situs Ambiguous or Heterotaxy, with Polysplenia Syndrome

2009-01-04T15:13:00.005-05:00

Situs Ambiguus, Situs Ambiguous or Heterotaxy
(refers to the abnormal arranging of the body organs)

Heterotaxy with Polysplenia Syndrome
(The following may be assocaite w/Heterotax, Polysplenia)

Polysplenia
(2 or more spleens)
Bilateral Left-sideness
Funtional Asplenia

Cardiovascular Malformations with Polysplenia
About 40% Partial anomalous pulmonary Venous Return
About 70% Intrahepatic Interruption of the Inferior Vena Cava with connection to the azygous or hemiazygous vein and left ventricular outflow tract obstruction

Other Problems maybe Associated with Heterotaxy

Pulmonary Isomerism
Vascular Rings
Mid Line Liver
Annular Pancreas
Right side stomach
Biliary Atresia
Tracheo – Esophageal Fistula
Omphalocoele
Intestinal Malrotation with obstruction or Volvulus (Vascular Obstruction)

Other Midline Malformations Maybe Associated with Heterotaxy

Central Nervous Systems
Encephalocele
Neural Tube Defects
Porencephalic Cyst
Cerebellar Agenesis

Axial Skeletal Defects
Hemi vertebra
Sacral Agenesis

Genito – Urinary Tract Anomalies
Hypolastic Kidney
Hypospadias
Duplicated Uterus
Vaginal Atresia
Fusions of Adrenals in Midline

Bindgut Abnormalities
Anal Atresia
Stenosis

Craniofacial Anomalies
Cleft lip/palate Agnathia
Micrognathia
Choanal Atresia
Laryngeal Cleft

Chloe's Genetics Appointment

2008-12-17T16:47:00.001-05:00

Chloe had a genetics appointment on Monday, December 8th. We haven’t received any news on her DNA testing that is being done at the NIH. The genetics doctor explained to us that it takes time and it could take up to another year before we find out the results.

In the meantime, my husband will be having an abdominal ultra sound done next month to see if he has any situs inverses associated with Chloe’s condition. My husband and Chloe share the same duplication on Chromosome 2 (2p22.3).

We told our genetic doctor that Chloe failed her eye exam at school and at her physical. Chloe will be seeing an eye specialist at Children’s Hospital next month. It maybe that glass could be in Chloe’s future. Her R eye is 20/50 and L eye is 20/40. The genetic doctor stated that the ophthalmologist will be able to see what is going on behind Chloe’s eye. Not sure what he meant by that statement – we will have to wait and see.

Kids ENT Visit

2008-12-04T07:13:00.005-05:00

My husband and I took the kids yesterday to there ENT visit. The children go every 6 months to the Ear, Nose and Throat doctor. Brady and Chloe both have tubes in their ears. Chloe is on her second round of tubes. The check up went well – no problems at all. We didn't have their hearing checked since it was done six months ago. However, on there next visit the technician will perform the hearing tests on both kids.

Chloe’s tube on the left is starting to fall out. I was told by an ENT specialist (at the NIH last Jan. 08) that Chloe will probable need tubes throughout her life to help prevent ear infections.

WHAT IS POLYSPLENIA?

2008-11-17T06:00:00.006-05:00

Polysplenia is a diverse disease that mainly affects the asymmetric organs. This may include the heart, lungs, bronchi, liver, intestines, gallbladder, portal vein, stomach and spleen. Crucial manifestations of this disease include Congenital Heart Disease (CHD), biliary atresia, intestinal malrotation, and Functional Asplenia.

Polysplenia is also known has bilateral left-sidedness. The left lung lobar anatomy is bilaterally/bilateral hyparterial bronchi (2 lobe lungs). The incidences of multiple small spleens are common in people with Polysplenia. People who have Polysplenia have bilateral SVCs, (about 50 to 70% percent have a) continuation of inferior vena cava (IVC). Chloe has an interrupted inferior vena cava, venous return for which occurs on the right-or left sided azygous system.

I have read and was told that Polysplenia occurs in an estimated 4 per 1 million live births. Approximately 90% of patients with Polysplenia have congenital heart disease (CHD). Chloe is lucky and falls in the 10% that never had heart surgery. Did you know that death can result from congenital heart disease (CHD), biliary atresia, intestinal malrotation, or sepsis? That is why early detection is so important.

I have also read that Functional Asplenia is overlooked in the Polysplenia community. Children who live past the age of 1 have a higher risk of dying from sepsis than from related CHD (especially if you have Asplenia). That is why it’s important to detect spleens that are not working at its full capacity in patients with Polysplenia. This will help prevent fatal bacterial sepsis. Patients with Functional Asplenia are vulnerable to streptococcus pneumococcal, Hamemophilus Influenza Type B, Niesseria Meningitidis and salmonella.

Two of Chloe’s doctors recommend that I keep Chloe away from certain animals. Such as; dogs, cats, rats, mice, hamsters, turtles, lizards, snakes, frogs and so on. In my case, I feel it’s important for friends, family or anyone who has an animal to fully understand this. Your child’s health may depend on it if they don’t. My daughter loves animals, it hard for her at times to understand why her mom is cautious with her around them.

The treatment for Funtional Asplenia and Asplenia involves four important things: antibiotic prophylaxis, appropriate immunization, aggressive management of suspected infection, and parent education.

It is also noted that, in one large showing assessment from Canada, the 1-year mortality rate was 32% and the 15-year mortality rate was 49%. I feel that we need more studies done on this rare syndrome. I have read that the frequency of Polysplenia has not been studied extensively, but it appears to be uncommon, comprising less than 1% of congenital heart defects. In a 26-year study done at the Hospital for Sick Children in Toronto Canada, only 91 cases were found. Yes, you heard me correctly. In only 26 years they only found 91 cases with Polysplenia.

For more information please visit the following links:

http://www.emedicine.com/ped/topic150.htm
http://www.emedicine.com/Radio/topic58.htm
http://www.emedicine.com/ped/topic2514.htm
http://www.emedicine.com/radio/topic639.htm

AN ITALIAN PROVERB

2008-11-16T14:14:00.005-05:00

Three years ago an Italian doctor at Children’s Hospital told me, rather your daughter cry now then you cry latter. Through the years, I have come to understand what this doctor was telling me. Your child may be upset and it breaks your heart but the outcome is far worse.

Thursday's Pulmonary Appointment

2008-11-15T14:49:00.012-05:00

On Thursday Chloe had her Pulmonary check up. While we were in the office waiting to be called upon a child collapsed on the floor. All of the sudden nurses, doctors, and 2 lab technicians came running. I did my best to shield my daughter from what was going on but Chloe was so concerned about the little girl she wouldn’t stop looking. I told Chloe lets go for a walk but still she wouldn’t budge. I even tried carrying her away but Chloe protested. As the lab technician took blood from this little girl Chloe asked me if the little girl was going to be okay. I told Chloe, I hope so. I also explained to my daughter that the little girl is in the hospital and the doctors will take very good care of her. I couldn't bare to look at what was taking place. I felt so bad and just wanted to walk away. I finally had to tell my daughter that it’s not nice to stare or to be noisy and we should give the little girl space. It was then that Chloe listened to me and walked away with me. As we sat, on the other side of the room, Chloe still remained focused with what was going on. After a while, Chloe started watching TV. But, once in a while she would turn her head to the little girl who was now being carried away on the stretcher. I am not sure but I believed the little girl had cystic fibrosis.

Another nurse came out and called Chloe’s name. After the routine check we went into our room. Chloe’s doctors recommend that we take her off Singular because of her anxitey and insomnia. Chloe always had sleeping problems. She has always had a hard time falling asleep and out last my husband and me. She seems to be anxious a lot more and does have her mood swings. Chloe's doctor told me that studies have been done on Singular and it has been linked to aggressive behavior, anxiousness, dream abnormalities, hallucinations, depression, insomnia and irritability. He then asked me to keep a log on her for the next 3 weeks documenting her moods, sleep patterns, and anxiety. Chloe was first put on singulair when she was 3 years old. The medication was used to help decrease the number of asthma attacks that Chloe had. It was also used to help decrease her hay fever.

For more side effects on this drug or to learn more about it please visit the following sites:

http://www.medicinenet.com/montelukast-oral/article.htm
http://www.fda.gov/Cder/drug/early_comm/montelukast.htm
http://en.wikipedia.org/wiki/Montelukast

To those of you who just don't get it!

2008-11-13T17:55:00.005-05:00

This BLOG ENTRY is directed to certain family members who don’t really understand what having a child with Heterotaxy, Polysplenia is like.

After you get over the shock of what your child has you go through denial, sadness and blame. You struggle to find a Happy Medium for your child. You want your child to be independent but at the same time you want to keep your child in a bubble – protecting her from the outside world.

Certain people just don’t get it. No matter how much you try to explain yourself. They just don’t get why I am careful with Chloe around animals. I have been called a dog hater because of this. I grew up with dogs as pets; I had 2 cats before I had children, and I even cried when my cat Mischeif had surgery. People who really know me understand why I am careful with my daughter around animals. They understand why I feel nervous about dogs. They also know why I really don't like them around her. They don’t call me an animal hater. So for those of you who don’t know why it is because of bacteria infections. Children who have Asplenia or Polysplenia are susceptible to infections by C. Carnivorous. If a child gets bitten it will be a trip to ER followed by co-antibiotic or erythromycin.

So please the next time you want to call me an animal hater please think twice why I am the way I am.

HERE I AM TODAY

2008-11-13T17:05:00.011-05:00

As many of you know, I started my blog journal to help me understand what it means to have a child with a rare syndrome. It was also to help me find answers to my questions. As parents, we do our best to protect our children. But, when you find out your child has a special syndrome you are even more protective over your child.

Sometimes, it’s hard for friends, family or strangers to understand our need to proctect our child. But, we as parents of children who have Heterotaxy understand this. We have this need to want to protect them at all times. To ensure that nothing happens, to keep them healthily, and to avoid hospital stays.

I have always been super careful with Chloe even before I found out what she had. I owe it my instincts. I have always known it had to be more. Chloe would develop high fevers – followed by some type of infection. Her pedi doctor told me she would grow out of it. But, I knew she was wrong. I had to fight for answers. I don’t think certain family members will ever understand the battle that my husband and I endured to find answers.

November 2005 is when we found out Chloe’s stomach was on the right. Her pulmonary doctor at the time thought Chloe had Primary Ciliary Dyskinesia (PCD). I remember that day as if it was yesterday. I remember being called into a room far away from everyone else’s room. My sister was with me. I remember the doctor’s mouth moving but I just couldn’t grasp my mind around what she was telling me. I remember falling to the chair with tears streaming down my checks. What do you mean my daughter’s Ciliary may not be working right? What do you mean she’ll need to have a lung and stomach biopsy? I was in total shock for days.

After they did the biopsy we would found out that Chloe had GERD, Mild Esophagitis, and mild immunodeficiency. However, Chloe didn’t have any traces of her having PCD. My husband and I were grateful.

But, why is she still having these fevers followed by infections? That was my question and the answer I struggled to find out. A couple of years past, and my questions still remained unanswered. It wasn't until Chloe went to the NIH for a study. The PCD research team thought just maybe it could be PCD. The study coordinator told me if it’s not PCD then we will find out what is wrong with her. Chloe was at the NIH for 5 days. Test after test was done and blood work. The NIH took the time to find the answer to my question. I was also told even tough Chloe may not have PCD she still may carry the mutant genes of PCD. The people running the study at the NIH believe that that certain forms of CHD or Heterotaxy may have the same genetic origin as PCD.

So here I am today, trying my best to keep my daughter healthily, happy and avoiding trips to the ER. Chloe and Brady are my number one priority in life. I love my children dearly. They mean more to me than anything in this world.

A LETTER TO KIMI

2008-11-07T17:54:00.004-05:00

Kimi,

Has she known throughout Pregnancy that her little girl would have Heterotaxy…Does she know if it’s Asplenia (no spleens) or Polysplenia (many spleens)? Does she have any situs inverses? Is the baby being transferred to a children’s hospital? Are they going to be running any tests while she is in the hospital? Your sister must have so many questions and concerns.

I belong to a wonderful support group and there are parents who have children with Heterotaxy. I only found out in January 08. But, I know for a fact there are parents who have known from the start. I would start there and ask parents what are things she should look for. Heterotaxy is so complex and no 2 children are alike. Babies born with Heterotaxy may have other problems they need to worry about. It’s up to the baby’s doctor to find out what other syndromes they may have. Knowledge is the best tool. Make sure that the baby’s doctor has a clue what Heterotaxy is.

Support Group: http://health.groups.yahoo.com/group/asplenia_ivemarks_syndrome/?v=1&t=search&ch=web&pub=groups&sec=group&slk=1

Syndromes: Kartagener Syndrome, Congetial Heart Disease, Cardiac Abnormalities, Biliary Atresia, Intestinal Malrotation, Volvous, Gastrointestinal Abnormalities, Vascular Abnormalities, Functional Asplenia, Genitourinary Abnormalities, Abdominal Situs Inversus, Polysplenia, and Asplenia

The best thing you could do for your sister is just to be there. She will need a shoulder to lean on. You’ll need to support her and help her out. Just listen to her when she needs to talk. Help her with cooking meals and taking her other 2 kids to give her a break. Wash her clothes if she can’t. You are her sister and you know her best. Be there for her.

I will be thinking of all of you.

Kimi said...
You don't know me. My name is Kimberly Erickson. My sister is in the hospital right now having her 3rd baby. She was told by her doctors her little girl would have Heterotaxy. She is so scared, so am I for her. I've tried to find info on the internet and I can't find anything. I dont know what this is, or how it will effect her little girl. If you could please give me some answers on what to expect and how I can help her. Thanks

November 7, 2008 5:11 PM

LOSING MY RELIGION

2008-10-16T07:00:00.007-04:00

At times, I feel like I am losing my religion. I always wonder if there is a higher power out there. Why would God bring children into this world but only to let them suffer? I often wonder this to myself.

Today, I was reading the lyrics to losing my religion by R.E.M and found myself thinking about it. Did you know that Michael Stipe stated once in an interview that this song isn’t about religion. But, it’s about him dreaming of being in the spotlight, and he is looking within the spotlight from the perspective of him who is terrified of fame and wonders if he is ready for it. However, when I hear the song; I feel as it its talking about someone who is losing face with their religion & fighting feelings that they have within ones self.

HERE IS A COPY OF THE LYRICS TO THE SONG...WHAT DOES IT MEAN TO YOU???

Life is bigger
It's bigger than you
And you are not me
The lengths that I will go to
The distance in your eyes
Oh no I've said too much
I set it up

That's me in the corner
That's me in the spotlight
Losing my religion
Trying to keep up with you
And I don't know if I can do it
Oh no I've said too much
I haven't said enough
I thought that I heard you laughing
I thought that I heard you sing
I think I thought I saw you try

Every whisper
Of every waking hour
I'mChoosing my confessions
Trying to keep an eye on you
Like a hurt lost and blinded fool
Oh no I've said too much
I set it up

Consider this
The hint of the century
Consider this
The slip that brought me
To my knees failed
What if all these fantasies
Come flailing around
Now I've said too much
I thought that I heard you laughing
I thought that I heard you sing
I think I thought I saw you try

But that was just a dream
That was just a dream

Sending A Letter With A Signed Evaluation Consent Form

2008-10-15T20:23:00.011-04:00

I am having Chloe tested at school. I sent this letter noted below along with A Signed Evaluation Consent Form. It is important to let the school department know any information that may help them during a staff meeting on your child. You'll need to change the letter to fit your child's needs. Please keep in mind, that this letter was written for my daughter. I thought it would help parents if they need it (as an example only). As you all know, there is not enough information out there for parents with children who have Heterotaxy Syndrome – Polysplenia.

Put the date

Name of Person
Title
Name of the school
City, State Zip Code

Dear Ms. or Mr. ,

As you know, I had requested that my (Son or daughter), (Child’s Name), be evaluated for special education services. I am concerned about (Child’s Name) performance and progress in school and believe she may need special services in order to learn. (Child’s Name) pre-school (Name of former pre-school) mentioned a concern to me last year. (Child’s Name) ENT specialist at (hospital or practice’s name) also stated that she may have a speech problem. (She or He) called it Articulation. (Child’s Name) Genetics doctor also recommend that I have her evaluated by a Developmental Pediatrician. However, there is a (length if there is one) waiting list. Therefore, I would like the school department to test (her or him) for any learning disabilities that (she or he) may have. I would also like to know what type of testing you will be doing on her so I can let her specialists know. I would also like copies of everything. Please send the copies to me 2 days before we have our meeting.

(Child’s Name) has a syndrome called Heterotaxy Syndrome – Polysplenia with Functional Asplenia. Therefore, (Child’s Name) may be out of school a lot because of illness. I will also keep Chloe home if there is an epidemic at school. My concern is that (he or she) will fall behind in (his or her) school work.

Specifically, I am concerned because (Child’s Name) has trouble following along. (Child’s Name) has a hard time following directions at home. I am very concerned with (him or her) not being able to recognize the alphabet letters and not being able to count past 10. (Child’s Name) also has a hard time writing letters and numbers. (She or He) has a tendency to write her 4’s backwards. (Child’s Name) also gives up to easily and walks away from us trying to teach (her or him) numbers and Alpha letters. We can not hold (Child’s Name) attention very long.

(Child’s Name) tends to exhibits many symptoms of anxiety. I believe this arises from all the treatments, doctors’ visits and studies she has had throughout the years.

I understand that a determination must be made about the information needed and assessment tools to be used for my child's evaluation and that I must give written permission in order for (him or her) to be evaluated. I look forward to discussing the out come of the testing with the appropriate school staff at the earliest opportunity so if needed we can start (Child’s Name) on an IEP. Thank you for your prompt attention to my request.

Sincerely,

You sign in this box

(example) Mrs. Pinky Smith

Enclosure: Signed Evaluation Consent Form

HELPFUL SITES

2008-10-09T18:15:00.009-04:00

A family member was kind enough to direct me to these sites. I have been having a hard time understanding IEP and 504 plans. It is very confusing for any parent. The best thing you can do for your child is to be informed as much as you can. I am lucky to have family members who can direct me when I need it.

Requirements for the participation of students with disabilities in MACAS.

http://www.doe.mass.edu/mcas/participation/sped.pdf

http://www.doe.mass.edu/mcas/participation/sped.doc

Massachusetts Special Education

http://www.doe.mass.edu/sped/

IEP – Massachusetts

http://www.doe.mass.edu/sped/iep/

Parent Information

http://www.doe.mass.edu/sped/parents.html

The Individuals with Disabilities Education Act.

http://www.ed.gov/pubs/parents/Including/chapter3.html

Section 504 and the Americans with Disabilities Act

http://www.doe.mass.edu/sped/links/sec504.html

Massachusetts Comprehensive Assessment System
Updated Advisory: MCAS Test Accommodations for Students with Disabilities

http://www.doe.mass.edu/news/news.asp?id=3713

No child left behind

http://www.doe.mass.edu/nclb/

Massachusetts department of Elementary and Secondary Education

http://profiles.doe.mass.edu/ayp2007.aspx?mode=school&orderBy=

Cold and Flu Season

2008-10-08T20:40:00.003-04:00

Cold and Flu Season is here. Chloe and Brady are both getting their flu vaccine Friday morning.

No you don't have my consent

2008-10-08T20:13:00.006-04:00

The school nurse sent home an Authorization for Release of Confidential Information for me to sign. I was taken back by it at first. I did call a couple of family members for their input on it (one is a social worker & other works for school dept.).

The nurse requested for me to provide my daughter's Primary MD and specialist (s) phone #'s and fax #'s so she can obtain, release or share information. I do not agree with this and parents should think twice before one signs a form granting the school department access to your child's private medical records.

The school department does not need to obtain all medical records from doctors for an IEP or 504 plan. However, you can provide letters from your child's doctors for what they think needs to be implemented.

What happen to a letter?

2008-09-16T16:16:00.019-04:00

It all started yesterday when I picked up Chloe from. The school had this sign that stated NO PARKING ON THIS SIDE OF THE STREET. Then this morning, I received an AUTOMATED phone call from the principal at my daughter's school. The message basically stated to parents that busses would be released before walkers. Well can you guess what happen next? The principal hired a police officer to deliver a message to parents who pick up their children at school.

I agree with the principal and officer a 100% that parents should never park on the other side of the street because of emergency reason. However, I do not agree with the officer telling parents not to pick up their child and let them ride the bus. He also stated that the children who take the bus have been arriving home 10 to 15 minutes late. Because, of parents picking up their child at school. Yes, you heard me right. I had to ask other parents to validate what he said. And “YES” I heard correctly.

This is my thought….Instead of the principal wasting school money to have a police officer try to put the fear of GOD in parents; why not hire the officer to direct traffic… The principal never came out to address the parents one on one…He never even sent a letter home to voice a concern …What he did do was use a sign, used an automated messaging and then hired a police officer to deliver a warning.

My question to the principal is...WHAT HAPPENED TO THE LETTER?

Chloe's Overnight Sleep Study

2008-09-14T17:03:00.000-04:00

Chloe had an Overnight Sleep Study at Children’s Hospital in Boston on Friday. I was pretty nervous about this study because I wasn’t sure how Chloe was going to react to it. I have to say that Chloe did a wonderful job and I am very proud of her. She is indeed my Champ!

What is an overnight sleep study? Well doctors call this study a polysomnogram. It is a study that is done to chart your brain wavers, heart beat, and breathing as you sleep. The study also records your eye and leg movements as well as muscle tension. The tech told Chloe that she would be able to till how many times she blinks her eyes. Amazing isn’t it. Sensors are placed on your head, face chest, and legs. The tech told Chloe to stay very still as she was placing the sensors on her head. The tech first took a red pencil and marked an X as to where should would be placing the sensors. She then took adhesive and rubbed it on the X followed by placing the sensors and then tape to hold it all together. This is why it was important for Chloe not to move. If Chloe moved and she missed her target she would have to start all over. The sensors are important because they send tiny electrical signals to a computer.

I was told that the signals would show when Chloe was asleep and awake during the night. The brain-wave and eye-movement detectors would show when Chloe is in REM sleep. Just in case, you don’t know REM stands for rapid eye movement sleep. This is a stage of sleep where your eyes twitch and your brain waves are very active. It is also the stage of sleep when you have most of your dreams.

The breathing monitor is important for people who may have Sleep Apnea because it shows the number of times you stop breathing. They can also detect low air flow and minor changes in oxygen level.

In regards to, leg sensors show both minor twitches and major movements that occur during the night. Chloe does tend to move a lot during the night. She tends to kick a lot when she is sleeping.

A clip was also placed on Chloe’s finger to note changes in the level of oxygen in her blood. The clip monitors the color of your blood. Did you know, as blood loses oxygen, it turns from red to blue.

It is the techs job to make your child feel relaxed. The center should also have an extra bed for the parent to sleep in. Only one parent will be able to stay in the room. It is very important for the parent also to make sure that your child feels safe and relaxed. No other patient will be allowed in the room with you. Each patient in the study will have their own room along with their own tech.

Chloe was free to snack, drink (no caffeine), read, color, play or watch TV. I had gone out and purchase 2 movies that Chloe wanted to see. I knew if I did she would stay in bed watch TV. Then the tech came in and told us to turn the lights out and it was time for Chloe to try to fall asleep.

During the night, a low-light video camera allows a technologist to see you from a nearby room. He or she will have to enter your room if a sensor comes loose. He or she will also have to detach the wires if you need to go to the bathroom during the night.

The tech came in our room at 6 am to slowly wake us up. The sensors were removed with a special solution. Chloe had a shower in her room but wanted to take a bath at home.

I won’t know anything until her doctor goes over the test. Chloe next appointment isn’t until November.

Vaccines & Antiboitic Prophlaxis

2008-09-14T15:37:00.004-04:00

It is always amazing to me how children with Heterotaxy are so different from each other. No 2 children are alike. We all parent differently and each one of our children our so different from the next.

As a parent, I do my best to protect my daughter from becoming sick. In Chloe’s case, she takes a daily dosage of Antibiotic Prophylaxis and has received extra vaccines to help protect her from a serious life-threatening illness known as sepsis. One's body's response to a bacterial infection may cause it.

Chloe takes a daily dosage of amoxicillin because she has had colds that have spiraled out of control since she was an infant. Chloe has had (4) pneumonia, numerous of ear infections, sinus infection, eye infections, bronchitis and hospitalized February 2008 for influenza B.

Some parents may not agree with me and think it’s wrong to give a child a daily dosage of Antibiotic. They might even try to instill their opinions and explain why I should rethink this decision. However, at the end, this is choice along with our child’s doctor we made to safe guard the well being of my child.

Chloe

2008-09-04T16:09:00.016-04:00

It is hard to believe that my champ will be six next month. I can’t believe how fast six years has come and gone.

I have always wanted a baby. We tried on our own for 3 1/2 years before we went through fertility treatment. It took us another 14 months before we found out I was pregnant. I was excited about having a little girl. I spent the next months of my pregnancy planning for her birth.

I was a little over 38 weeks when my water broke and after 20 hours of labor we had our baby girl. My husband spent the next 15 minutes trying to figure out a name for her. He had narrowed his list down to 3 choices: Zoë, Chloe, and Jenna. Thank goodness he decided to go with Chloe. Truth be told, I wasn’t crazy about the other names he was thinking about.

I quizzed the nurse with every question I could think of. I had the nurse show me how to change a diaper at least 4 times. I had my husband video tape everything so I wouldn’t forget. I am sure I was the brunt every joke that the nursing staff may of had. But, I didn’t care. I wanted to make sure that I was doing everything right by my little girl.

I was scared that I might make a mistake from bottling feeding to changing her diaper. I would bring my ear to her chest to make sure she was breathing. I swear I did not sleep for the first 6 months of her life. I had this intense redness under my eyes. My younger sister would often tell me to relax and get some sleep. Chloe never left my side as a baby. I would bring Chloe to the bathroom with me so she would not be alone. Yes, I was one of those first time moms that people like to poke fun at. Thinking back on it I must have had some type of instinct inside of me just wanting to make sure she was always okay. I questioned everything and left nothing to chance. Chloe was very colicky and had her days and nights switched. Chloe had acid reflux as a baby. Her doctor said it was normal but knowing what I know today it wasn’t. She had jaundice for first 3 weeks of her life. She started to get ear infections at 3 months. When she got sick her fevers would spiral out of control. Her doctor would make me feel as if I was being paranoid. The first time she was hospitalized for pneumonia she was 18 months.

Chloe has always had a mind of her own and is very strong willed. At 18 months she did not want to go into the tent for oxygen treatment. I spent the next few days holding her in my arms and holding the oxygen tube so she could breathe. I did not care that I wasn’t sleeping my daughter came first.

I made an appointment with Chloe’s pediatrician to talk to her about seeing a specialist and find out what was going on with her. I stuck to my guns and would not give up my argument for her to see a specialist. Anyways, I final won the dispute with her doctor and made an appointment for her right away. My sister went with us for Chloe’s first pulmonary appointment. Chloe was tested for CF and had an x-ray done. I remember the heart ache I felt when the doctor called us into a room down the hall. We were segregated from other patients. The doctor informed us that Chloe had right side stomach and she thought that Chloe may have something called Primary Ciliary Dyskinesia. If it wasn’t for my middle sister I would have fallen apart. My sister kept me grounded and asked questions for me. The doctor made sure to set us up with other doctors in various departments. She also scheduled a biopsy to be done of her lungs and stomach. She also made sure that Chloe was given an antibiotic when she developed a cold. This helped to prevent her from getting more infections.

When Chloe’s ciliary came back normal they ruled out PCD but I thought they were wrong because she kept getting sick. I spent the next 3 years trying to figure out what was going on with her. Chloe’s pulmonary doctor had left Children’s. Chloe in the mean time was shuffled and was seen by different doctors. It wasn’t until Chloe’s visit to the NIH in January that we final got some answers.

I have always been a fighter and I don’t give up easy. These pit-bull like qualities have helped me through out my life. So here I am today, looking for answers as to why, what, and how. I often refer to myself as a sponge, trying to soak up as much information as I can. Trying to make sense of all this. Most of all, I am doing my best to help spread the word.

My daughter will be six next month. Chloe is 4 in one million who lives with a multifaceted syndrome called Heterotaxy. Chloe is one of the different faces of Heterotaxy.

Update on Chloe

2008-08-28T15:43:00.006-04:00

Yikes! Chloe is going to kindergarten. I have a hard time believing it myself. Where has the time gone? My little girl is off to a big school. Yes, I am a little nervous about it especially with cold season upon us. I know I can’t keep her in the bubble and she needs to experience everything that life has to offer her. It is hard at times to find that “Happy Medium” and letting her go out on her own without me. How, am I going to keep an eye on her? Who is going to be there to ensure that nothing goes wrong? Yes, I am dealing with a lot right now. But, don't worry about me because I will work through my fears.

One of the ways that is helping me deal with my fears was meeting with the school nurse and Chloe's teacher. I went there yesterday and had a chance to get to know them one on one. I have to say they seem to be wonderful and caring individuals and I felt comfortable with them. In the meeting, I tried my best to explain to them what it means to have Heterotaxy Polysplenia with functional asplenia. The school nurse already did her home work and had idea of what the syndrome is. However, she still wanted my intake on it and how it affects Chloe. I made sure to emphasize that Chloe has a mild form of it and that she has a good prognoses. But, they are certain things we need to watch out for in order to keep her healthy and safe. She asked me, if I could have Chloe’s doctor write a letter stating that it was okay for her to attend school. At first, I was taking back by it but after some thought it made sense, as to why she was asking for it. I didn’t mind at all to contact Chloe’s doctor for the letter. Chloe’s doctor is great and took the extra to step to explain in the letter that I and the school nurse need to be contacted if Chloe has a fever, vomits, diarrhea, or looks ill.

Please also make sure to give them a copy of your child's fever plan or asthma action plan. I made sure to give a copy to the nurse yesterday so she in place it in Chloe's medical file.

Awareness

2008-08-28T15:14:00.002-04:00

I would like to share with you an email that I received from a parent. As you all know, I believe that it is important to “HELP” spread the awareness of Heterotaxy with Polysplenia, Asplenia, or Functional Asplenia. Thank you for helping me spread the word. Please take the time to visit Billy’s website for more information on his syndrome.

From an anonymous parent, "Our son Billy was born on Jan 22, 2008 with heterotaxy. He is bi-lateral left-sided (polysplenia with functional asplenia - he has 5 little spleens), a midline liver, no gall bladder, stomach on the right side and multiple heart defects. He received a heart transplant on Feb 21, 2008 and is going great. If you are interested go to www.caringbridge.org and type in babyjohnson1 for our site."

SUPPORT GROUPS

2008-08-28T15:04:00.005-04:00

Why are support groups important for parents like you and I? One of the reasons is that it gives us a chance to talk to other parents like you and I who have children with similar problems. As you know, there is not enough information out there for families so by speaking to other parents; it gives us a chance to find out what they know about their child’s syndrome. The second reason, I feel that a support group is useful is because it helps us to comprehend what we read. In other words, we are able to ask questions to other parents, get their input, and an intake on their experience. It is important to remember, that one must always remember to report any problems or concerns to your child’s doctor first.

Here is the support group that I belong too. Please note, parents who belong to this support group have children with Heterotaxy with Polysplenia, Asplenia, or Funtional Asplenia.

http://health.groups.yahoo.com/group/asplenia_ivemarks_syndrome/?v=1&t=search&ch=web&pub=groups&sec=group&slk=1

WALK A MILE IN MY SHOES

2008-08-17T21:11:00.005-04:00

If I could be you, if you could be me
For just one hour, if we could find a way
To get inside each other's mind
If you could see you through my eyes
Instead your own ego
I believe you'd be you'd be surprised to see
That you've been blind
Walk a mile in my shoes
just walk a mile in my shoes
Before you abuse, criticize and accuse
Then walk a mile in my shoes

Lyrics by Elvis Presley
**********************************************************************************

The lyrics to this song pretty much sums up how I am feeling today.

Update on Chloe's appointment

2008-08-15T16:25:00.004-04:00

Chloe is doing a lot better! Yeah! Her appointment went well. No complaints. She goes in for a sleep study next month. Her cold is a lot better too.

Brady and I are both sick now. I ended up taking Brady to the doctos and he has an ear infecitons. I also put in a call to his ENT and it looks like Brady will be getting tubes (in the near future).

HOPE

2008-08-15T16:17:00.003-04:00

We sometimes feel like we are the only ones going through our ordeals. That no one understands what we are going through. That finding answers is sometimes impossible. But, in today’s world of technology parents find hope. Hope because we find support groups to help guide us in the right direction. Hope in finding other children like our own that have similar problems. We also find hope because we our finding answers to our questions.

Thank you all for your emails. Please know that I read everyone of them. Because of your emails I know I am getting the word out. Like I always say, “It only takes 1 person to help spread the word around the world.”

Up Date on Chloe

2008-08-13T21:40:00.003-04:00

Yes, it looks like cold season is here for Chloe. Chloe woke up yesterday with a cold. She is very stuffy and cranky. We are going to Children's tomorrow for a pulmonary visit. I am hoping that her cold does not turn into some type of infection. Chloe starts school this year. Yikes! I really don't want her to go but I can't keep her in a bubble. It is so hard to find that "HAPPY MEDIUM" when it comes to Chloe.

Heterotaxy & Primary Ciliary Dyskinesia

2008-08-13T21:24:00.005-04:00

I was researching links between Heterotaxy and Primary Ciliary Dyskinesia today and came across a few sites that I thought some readers might be interest in.

http://www.circ.ahajournals.org/cgi/content/full/115/22/2793
http://www.circ.ahajournals.org/cgi/content/abstract/CIRCULATIONAHA.106.649038v1
http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia
http://www.pcdfoundation.org/

Update on Genetics

2008-08-13T16:36:00.003-04:00

If you don't know already....Chloe is participating in "Genetic Diseases of Mucociliary Clearance" a study at the NIH (National Institue of Health). Samples for genetic tests including mutations analysis for the 3 known primary ciliary dyskenesia genes were obtained from Chloe...Some of the tests will be performed at the University of North Carolina at Chapel Hill. My genetics doctor in Boston, hopes to have the results of these test in the next few months. He will be following up with his contact at the NIH.

RENEWED!

2008-08-06T20:39:00.005-04:00

I feel so renewed. My family and I spent 10 days in the White Mountains. It was just what we needed! We went camping in North Conway. The campground was on the Saco River. The kids loved the water and it was so clean. My cousin’s family also went camping with us. I love spending time with the family. It means the world to me. We also went camping in Falmouth (Cape Cod)for 5 days. The children absolutely love the campground at the Cape. The campground has such great actives for the kids and grown up’s too.

I am so excited about getting back to writing and I hope that over the next few months I will be able to do some researching on other syndromes that go with Heterotaxy. There is so much to read about. I have to take one syndrome at a time so I don’t feel so overwhelmed.

I also want to hear from you. I want to be able to share your stories with everyone. I believe it is important for everyone to know the “DIFFERENT FACES OF HETEROTAXY.” If you would like to submit a story about your child I would be proud to post it on my blog. It only takes 1 person to help spread awareness around the world.

My hope for the furture is that the NIH will be doing more studies. I also hope that the NIH will work on doing a medical pamphlet on Heterotaxy and the syndromes that are associated with it.

Biliary Astresia

2008-08-05T17:52:00.009-04:00

Today I was thinking about a woman that I spoke to a while back whose child has Biliary Astresia. She has been on my mind a lot and I am wondering how her little girl is doing. I decicate this post to you.

First of all, children born with Biliary Astresia may also have Heterotaxy w/polysplenia.

What is Biliary Astresia? It is the absence or abnormality of bile ducts from birth. The blockage can happen inside or outside the ducts. The majorty of infants born with this rare conidition continue to have inflammation due to inadequate drainage and may develop scarring called cirrhosis. Babies born with Biliary Astresia may eventually require a liver transplant.

What are the purpose of the ducts? It helps carry a liquid called bile from the liver to the gallbladder. The bile ducts help removes waste form the liver. It also helps carry salts for which in turns help the small intestine break down digest fat. If the bile flow is not working properly then the tube (duct) linking the liver to the gallbladder is blocked. The blockage may lead to liver damage or cirrhossis of the liver. This can be terminal if not treated.

What are the syptoms: Newborns may look normal at birth but jaundice develops by the third week. A baby may lose weight and the jaundice may worsening in time. The newborn may also have dark urnine, enlarged spleen, floating stools, smelly stools, pale or caly colored stools and may gain weight very slowly or not at all.

What types of test can be done to confirm this? Your child’s doctor may do an abdominal or bile ducts x-ray, abdominal ultrasound, a blood test to check bilirubin levers, a liver biopsy, and HIDA scan (also called cholescintigraphy) to see if the gallbladder is working properly.

What are the treatments? Your child may need a procdure called Kasai. This is an operation that is done to link the liver to the small intestine, by going around the abnormal bile ducts. The chances of survial is better if your child has it done by time he or she is 8 weeks old. However, a liver transplant may still be needed. I have read that early surgery will improve the survial of more then 1/3 of infants born with this rare conditon.

Some of the information noted above are taken from various websites for which I noted below. I would also ask your child’s doctor for any reading material they have on Biliary Astresia.

http://www.nlm.nih.gov/medlineplus/ency/article/001145.htm
http://www.emedicine.com/ped/topic2514.htm

Summer

2008-08-04T22:01:00.002-04:00

The summer has been flying by! I have enjoyed the time that I have been spending with my children. I came across a poem called Midsummer Joys. I thought I would share it with my readers.

Midsummer Joys
by Winifred Sackville Stoner, Jr.

Give me the joys of summer,
Of SUMMER QUEEN so fair,
With wealth of lovely flowers
And fruits and sun-kissed air!

Talk not to me of winter
With ice and frost and snow,
Nor changing spring and autumn
When howling winds will blow.

No, I will take the joys
Of SUMMER every time,
So to this Queen of Seasons
I dedicate my rhyme.

Searching

2008-08-04T21:00:00.000-04:00

I often find myself searching for answers on the internet. I have spent hour after hour on the computer reading medical journals. I have written emails to doctors telling them about Chloe and at the same time trying to get more information out of them. I have spent countless hours reading blogs of parents whose children have Heterotaxy. Sometimes, I feel it is not enough. I am like a sponge soaking up as much knowledge as I can. I am trying my best to understand this complex syndrome. But, at times I find myself lost in a pool of information. I think of the parents whose children have it worse then Chloe. I want so much to reach out to those parents who are trying to understand this multifaceted disease. I don’t understand it myself and I never will. All I know is that no 2 children are the same. Each child is different from the next. 4 in 1 million children have Heterotaxy with Asplenia or Polysplenia.

July

2008-07-10T21:45:00.004-04:00

I am taking a break this month so I won't be writing much this month. I am taking the time off to spend it with the family. I won't be posting anything until next month. Have a happy and safe July everyone.

This is what it is all about!

2008-07-01T14:56:00.006-04:00

A reader sent this email to me. A special Thank you to the reader who took the time to send a comment to me. Please know that I am happy that I could help.

Hi,

Just came across your web site and I am just beyond amazed with all the knowledge that you have shared. Thank You. My daughter was just diagnosed with polysplenia and we were not told really any information so I have been searching non stop and this is the best information that I have found. Thank you so much for your dedication and time that you have taken to spread awareness and to help others through this diagnosis.

June 30, 2008 2:49 PM

What is Functional Asplenia

2008-06-24T21:24:00.003-04:00

Polysplenia with Functional Asplenia is when a person is born with more than one spleen. Having more than one spleen does not always mean that it is working at its full capacity. People with Functional Asplenia are prone to bacteria infections. These groups of people are managing as Asplenic.

Asplenia increase the risk of Septicemia from encapsulates bacteria. A syndrome known as OPSI (overwhelming post splenectomy infection) may kill a person within a few hours if not treated immediately. These groups of people are at risk for Pneumococcus, Haemophilus, influenzae, and meningococcus.

Additional measure need to be taken to help prevent certain infections that can kill a person with Asplenia or functional asplenia. A person may need Antibiotic Prophylaxis before certain surgical or dental procedures. A person should be wary of animal’s bites. Please note that adequate antibiotic maybe needed even after a minor dog or other animal bites. These groups of people are also above all susceptible to infection by C. Carnivorous and should receive a five day course of co-amoxiclav or erythromycin. Make sure to call your doctor or go to ER after an animal bite. Your life may depend on it.

Tick Bites also pose a rare tick-borne infection. Make sure to check yourselves for tick bites. If you have a fever, and feel fatigue after a tick bite you should contact your doctor or go to ER. A diagnostic confirmation by identifying the tick may be needed so remember to save the tick and bring it with you.

Above all remember to wear a medical alert bracelet. This will ensure that the medical community is aware of your medical condition if an emergency arises.

I would also like to add that family members and friends should be careful with their dog around your child especially, if their dog has an aggressive nature. Your child’s welfare should come first and people close to you should take that into consideration.

Happy Father's Day!

2008-06-15T10:55:00.021-04:00

I just wanted to wish all you DADS "A Happy Father's Day" And a very Happy Father's Day to my husband "Diniz". A special thank you for everything that you do for us.

Father's Day Poems

What Makes A Dad
The Little Chap Who Follows Me

What Makes A Dad
God took the strength of a mountain,
The majesty of a tree,
The warmth of a summer sun,
The calm of a quiet sea,

The generous soul of nature,
The comforting arm of night,
The wisdom of the ages,
The power of the eagle's flight,

The joy of a morning in spring,
The faith of a mustard seed,
The patience of eternity,
The depth of a family need,

Then God combined these qualities,
When there was nothing more to add,
He knew His masterpiece was complete,
And so, He called it ... Dad

The Little Chap Who Follows Me
A careful man I ought to be,
A little fellow follows me,
I do not dare to go astray
For fear he'll go the selfsame way.

I cannot once escape his eyes,
What ever he sees me do, he tries;
Like me, he says, he's going to be,
The little chap who follows me.

He thinks that I am good and fine,
Believes in every word of mine
The base in me he must not see,
The little chap who follows me.

I must remember as I go,
Through summer's fun and winter's snow,
In building for the years to be
The little chap who follows me!

Authors unknown

Over the Rainbow

2008-06-14T07:25:00.000-04:00

This is one of my favorite song from the Wizard the OZ. I believe that it sends a powerful message to all of us. What do you think?

Somewhere over the rainbow
Way up high
There's a land that I heard of
Once in a lullaby

Somewhere over the rainbow
Skies are blue
And the dreams that you dare to dream
Really do come true

Some day I'll wish upon a star
And wake up where the clouds are far behind me
Where troubles melt like lemondrops
Away above the chimney tops
That's where you'll find me

Somewhere over the rainbow
Bluebirds fly
Birds fly over the rainbow
Why then, oh why can't I?
Some day I'll wish upon a star
And wake up where the clouds are far behind me
Where troubles melt like lemondrops
Away above the chimney tops
That's where you'll find me

Somewhere over the rainbow
Bluebirds fly
Birds fly over the rainbow
Why then, oh why can't I?

If happy little bluebirds fly
Beyond the rainbow
Why, oh why can't I?

Why Do I Blog

2008-06-13T07:00:00.002-04:00

I blog because I believe that one person can spread the word. My hopes are that someday the medical community will have answers to this multifaceted syndrome that Chloe and other children have. I blog because it helps me to face the reality of what it means to have a child with a syndrome. I know that Chloe is extremely lucky because she could have the syndrome a lot worse and she is was one of the few that will be able to make it to adult hood and beyond. I blog for the parents searching for other children like their own to have some type of an insight of what it is like to have a child with Heterotaxy Syndrome. The hardest thing to understand is that no 2 children are the same. Children born with Heterotaxy Syndrome are so different from each other. Yes, I know I am lucky because Chloe has a good prognosis but along the way she may have obstacles to over come. But, I still feel the need to spread the word around the world.

Sao Miguel - A Part Of Me

2008-06-12T21:33:00.023-04:00

I often find myself thinking of the island that I left behind. How I miss Sao Miguel so much. Words can’t describe how I feel about this island. I have such great memories of the green Island. I had my first kiss there and of course my first love. Gosh, I hope my children will be able to visit this precious beautiful island someday. I hope they'll be able to spend at least one summer like I did as a child.

My parents arrived in the USA in the late 60’s for a better life. You know the American Dream. They worked very hard. My father would work 70 hours a week and my mother 60 hours. They did what they had too for their children to have a better life.

I am who I am because of them. I owe a lot to my parents. I would be lost without my family. I count on them a lot.

Sao Miguel is known as "The Green Island,” it is the largest & most populated island of the Azores. Sao Miguel is 1 of the 9 Azorean islands that belong to Portugal. The islands are located in the middle of the Atlantic Ocean between the United States of American & Portugal.

Anyways, I am adding some pictures here for you all to see. I love my Sao Miguel “Green Island” and I want to share it with you.

My Children

2008-06-11T18:02:00.009-04:00

Chloe is my six year old daughter who was born with Heterotaxy Polysplenia with Funtioanl Aslpenia. Chloe is my champ! She is diplomatic and jumps right in the middle of all family dispute and starts telling everyone to behave. Chloe at times is like a delicate flower and other times she like a little tiger that will continuallly fight for what she belives in even if she is wrong. Chloe is like a warrior at times fighting for the underdog. Chloe loves to fight for justice and will make sure that a small child is cared for. I find that Chloe is always watching out for the smaller children and trys to do right by them. Chloe is always planning something out in her head. She is always up to no good because of a mission she might be on. Yes, at times Chloe can be sneaky. Chloe is also very friendly and is chatty. She will talk your ear off if she has the chance too. Most of all, she is a caring little girl with a big heart to love. She is my champ. I would not want her to change who she is.

Brady is my 2 year old son. I call him my miracle child. With Chloe I was on Fertility for 14 months before I was pregnant with her. Brady was a surprised and I did not even have to go through fertile with him. Brady does not have Heterotaxy Syndrome. With Brady I have to be on my toes all the time, I find that I am always trying to catch up with him. From the moment he started walking, I had to put on my jogging shoes on. Brady is very much an explorer and a seeker. Brady loves to hide on us. Brady is a calm, easy going, and patience child. He tends to be very quiet and shy around people he does not know. Brady loves to be held and cuddled by his mommy. Chloe loves her little brother and is a big help with him. She is the second Mommy in house.

Who Am I

2008-06-11T15:15:00.008-04:00

I am 37 years old. I am first generation Portuguese American. My parents came here from Sao Miguel Azores Portugal about 39 years ago for a better life. I have been married for almost 13 years. I have 2 wonderful children.

I have had my ups and downs but through it all the challenges that life has brought me made me who I am today. I believe what doesn’t break you can make you stronger.

Yes, at times I can be a complex person. I will be the first one to admit it. I am stubborn, dogmatic, passionate, caring, ambitious, impulsive, enthusiastic, (at times) adventurous, and hard working. But, if it wasn’t for those qualities I would never be able to find the answers that I am looking for.