A mother's love helps others - The Sun Chronicle : Local News

A mother's love helps others - The Sun Chronicle : Local News

Alexander's Fight - Baubles for Boston

A dear friend of mine is making hand-crafted Christmas ornaments.

Alexander's Fight - Baubles for Boston

 

 

Alexander

Money raised will help mend Alexander’s broken heart, as they travel across the country in April of 2013.  Please help this family out if you can. 

To learn more about little Alexander please stop by his Facebook page and blog spot.  Please follow the links noted below.

https://www.facebook.com/Alexandersfight

http://www.drawingheartproject.blogspot.com/

 

Please also read what his mother sent me so I could add it to this blog post.  This is a short bio on Alexander.

Written by Heather Williams

Alexander is our fourth, youngest and described as the “surprise bonus baby”.  He’s also our only boy.  He’s 18 months old, blond hair/blue eyes, enjoys cars, trucks and Mickey Mouse Clubhouse. 

He also has heterotaxy syndrome.

We knew of one of his major heart defects before birth; informed he’d need surgery within his first few weeks.  We expected his start to be rocky, but were not aware of heterotaxy until he was near 24 hours old.  Even then, there were few answers.  Our doctors treated it as something secondary to his ever-growing list of congenital defects.  Only genetics seemed interested.  We proceeded with a modified surgical plan.

As we became more educated about heterotaxy, we became more wary of having surgery at our home hospital.  Alexander’s very complex and needs a surgery that is modified from a surgery performed regularly nearly thirty years ago, but rarely today.  Amongst the four cardiac surgeons at our facility, none had ever performed the textbook version of the procedure, let alone the improvisation Alexander needs.

During this time, our family has tightened our belts.  We’re a middle class family, and when major medical expenses are added we’ve found a balance where we’re making it, but we go without a lot.  It’s a burden we’re happy to take on; Alexander is our miracle, but it makes adding further expense difficult.

However, that’s what we’re doing.  After consulting with other parents and doctors, we are electing to take Alexander to Boston Children’s Hospital to finish the repair on his broken heart.  We feel that the amazing cardiothoracic team there has just enough moxy, knowledge, skill and modesty to perform miracles on our miracle boy.  This is a cross-country trip that we’re willing to do for our special guy.

To help meet those goals, I (Alexander’s proud mommy) decided that I would try to contribute to his cause.  I have been crafting for years, and we decided to offer some of my baubles for donations.  The response has been incredible.  I have been humbled by others kindness and generosity, and every penny that is donated is going directly to airline tickets, lodging costs and other travel expenses as we take him cross country for surgery.

Rhode Island Rare Disease Foundation - October's Newsletter

Chloe was featured in Rhode Island Rare Disease Foudation October Newsletter http://us5.campaign-archive1.com/?u=10ab9d8a99bbbc9504b163e41&id=6a2c68c169

Drawing Heart Project

Please stop by the Drawing Heart Project -  http://drawingheartproject.blogspot.com/   . A brand new amazing blog by a dear friend of my (Heather Williams).  

Heather thank you for sharing your son's Alexander's story and pictures of his beautiful heart. Most of all thank you for raising awareness for heterotaxy.

Nathan a little boy with Heterotaxy and complex CHD

Nathan was born in December of 2010 a healthy baby boy. However, he was born with Heterotaxy Syndrome, Asplenia and complex CHD. His parents had no idea. Everything changed on February 14th of 2011. Nate was diagnosed with complex CHD. Nate is 4 of the 1 per one million children born with Heterotaxy. His parents created the you tube video to share Nathan story & to bring awareness for Heterotaxy Syndrome.

Ryker's blog

Please take the time to visit Ryker's blog. It is his journey with Heterotaxy. You will also find a video on in his blog on his journey last week to Children's Hospital Boston (CHB) from Salt Lake City, UT.

A special thank you to The Heterotaxy Network you truly are changing the outcome for kids with heterotaxy.

http://miracleryker.blogspot.com/

Aiden's Angels, Inc.

Aiden is a 2 year old little boy with Heterotaxy and CHD. His mom is a nurse, his dad a pharmacist. The non-profit organization to help families in the Central Kentucky area with children born affected by congenital heart disease.


Taken directly from the Aiden's Angels, Inc website. Please see their mission statement noted below and the link to the website

Aiden's Angels, Inc
Mission

Our mission is to help families with children born affected by congenital heart disease. It all started out of the love for one little boy and his family. Witnessing the struggles and challenges they faced and wanting to help and support them in any way possible. Then, further understanding not just the emotional toll this family was facing, but the financial as well. So we bonded together as Aiden's Angels over 2 years ago and were determined to help in anyway possible. And help we did! We provided emotional, spiritual, and financial support to this family. We want to continue to help the Zumwalt family and families just like them. These families face overwhelming obstacles and limited resources and our mission is to help with any thing from medical bills, therapy equipment, and prescription cost to travel expenses, specialized childcare and so much more. Anything that would take just a little weight off these families shoulders.

http://aidensangelsinc.org/index.html

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

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

SHROOM3 Heterotaxy

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

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

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

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

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/

Brady's full sentence

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

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

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 Chloe & I. 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.

Handwashing Tips

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

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

This is a great website that describes Heterotaxy.

http://heterotaxy.org/what_is_heterotaxy.aspx

Chloe started 1st Grade & Junes encountrer with Swine Flu

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

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

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

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

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)

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

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

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

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

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

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

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

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

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

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

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

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.

Early Intervention

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

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

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

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

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)

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...

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

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

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)

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)

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

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

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

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 5 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

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

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

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?

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