AN ITALIAN PROVERB

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

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!

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

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

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

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

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

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

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

No you don't have my consent

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?

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

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

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

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

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

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

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

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

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

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

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

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

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!

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

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

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

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

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!

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

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!

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

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

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

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

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

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.

Studies at NIH

A clinical research study is a study in which patients receive treatment in a clinic or other medical facility. The study may test new methods of screening, prevention, diagnosis, or treatment of a disease or syndrome. The National Institute of Health has many studies going on. They are located in Bethesda, Maryland. The NIH also offers you up to date information on diseases, syndromes, and different conditions. The information is collected from 50 states and 156 countries.
Can you believe that the clinical trails.gov receives over 40 million page views per month? Well they do. Chloe had the chance to go to the NIH to participate in a study back in January 2008 for Primary Ciliary Dyskinesia.
Primary Ciliary Dyskinesia (PCD) is also known as Immotile Cilia Syndrome. Kartagener’s Syndrome (KS) is a subset of PCD characterized by situs inversus. KS maybe a combination of chronic sinusitis, ear infections, respiratory infections, and situs inversus (organs are reversed). People with PCD or KS have abnormal or absent ciliary motion. Cilia are tiny hair-like structures that move mucus out of one’s respiratory passages. (Think of Cilia as a broom and it sweeps all the dust away from the floor. If the broom isn’t working right then dirt just builds up.) If one’s Cilia aren’t working right then the mucus becomes stuck and blocks the respiratory tract. This may lead to pneumonia and other various types of respiratory infections.
I was told by a doctor that the nodal cilia of embryo are responsible for controlling the normal position of the heart & visceral organs. However, if the nodal cilia aren’t working right then there is an equal chance of situs inverse and situs solitus. The NIH along with Children’s National Medical Center has a study going on called Dyskinesia, Heterotaxy, and Congenital Heart Disease. They think that PCD and Heterotaxy and Congenital Heart Disease may have the same genetic origin as PCD.
Chloe is still involved in the study and our genetic doctor at Children’s Hospital in Boston is now working with the NIH. My family and I are very grateful to the NIH for all their help. Chloe was very lucky to have been picked to participate in the study. It is my belief because of the researching going on at the NIH we were able to figure out what was going on with our precious daughter. Most of all, Chloe’s doctors at Children’s Hospital in Boston were able to diagnose Chloe with Heterotaxy Polysplenia with Functional Asplenia.
To find out more about this study visit the following web link noted below:

http://clinicaltrials.gov/ct2/show/NCT00608556

Syndromes or Conditions that Maybe Associated w/Heterotaxy - Polysplenia

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

Chloe's "EHCO"

Chloe had a an echo cardiogram done (also known as an “ECHO”)today. An echo cardiogram is an ultrasound that uses high frequency to view the heart. The echo cardiogram is non-radioactive. It is also safe and harmless procedure that helps the doctors to diagnose any heart problems that your child may have. I would strongly suggest you talk to your child’s doctor about having an echo cardiogram done to ensure that there are no problems especially if your child has Heterotaxy.
The pictures of the child’s heart are viewed on a small monitor while the procedure is taking place. The room is kept very dark so they can see the heart. Their will be no needles or probes and everything is done from the outside of the child’s body. The “ECHO” is like a sonogram that pregnant women have before the child is born to view the unborn child’s organs, heart and blood vessels. The “ECHO is done while your child’s lies down on a hospital bed and will be titled slightly around so they can see the different views of the heart and blood vessels around the heart. The majority of Children’s Hospitals are equipped with a televisions, video records, and videotapes to help keep ones child entertained. Chloe got to watch the Little Mermaid. They will ask you to undress your child from the waits up and they may even give you a short gown for your child to wear. A warm gel is used in order to improve the quality of the pictures. This gel is colorless and does not have an odor. The gel is applied around the chest area where the heart is located. An instrument called a transducer is used to send sound waves into the chest for which bounce off the different parts of your child’s heart. The transducer will be moved over the chest, abdominal area, and neck in order to get the images the cardiologist wants to see. The computer sends the information from the transducer to make an image of the heart. Then the image is displayed on a monitor called an echocardiogram machine and is recorded on CD or inputted into the hospitals main frame for other doctors to view within the hospital. A child may feel scared or discomfort from the pressure on the transducer; however, this varies from child to child and the age of the child. Pediatric echosongraphers are trained to work with children and should have the knowledge and patients on how to make your child feel comfortable without any pain. You may hear some sounds from the ECHO machine. These sounds are blood flowing from one chamber to another and the valves opening or closing as the blood passes through. You will also see colors are monitor. These colors are not the colors of the blood in the heart. The color shows them what direction the blood is flowing. The red color shows the blood is flowing towards the transducer and the blue color shows the blood is flowing away from the transducer.
The ECHO used to demonstrate the structure of the components of the heart. This is also used for measuring the size and thickness of the heart chambers, how the heart is handling the pumping of ones blood through the chambers, and blood flow through the heart valves. This is important because it can find structural abnormalities of your child’s heart. Such as, holes between the chambers, fluid around one’s heart, and a mass inside the heart. This will also show valve shape, motion, narrowing or leaking. Your child might have preparations before and after an echo cardiogram is done (this may depend on the age of your child). For instances, a child 4 years or less may require sedation for the echo cardiogram. Your child’s cardiologist will let you know what he thinks is best for your child in order to have the procedure done. As far as I can tell Chloe’s echo cardiogram went very well. I don’t foresee any problems that they found.
After Chloe’s “ECHO” she had blood work. Chloe dislikes blood work and cried for a ½ hour in the waiting room. It was a challange for them to draw blood. Chloe was also seen by her GI doctor and they increased her prevacid to 2 tablets/twice a day (once in the morning & once at night).

Happy Birthday Brady

As I sit here planning my son’s second birthday; I pause to think of all the special children with Heterotaxy Syndrome that don’t make it to their 2nd birthday day. Anybody who knows me knows that my children’s birthdays are everything to me. I do my best to make it their special day. To me a birthday is about celebrating their life. Life is so precious and should be treated as such. We should not take for granted what an accomplishment it is to be a year older.

Laterality Sequence Defects

Did you know that different laterality sequence defects can be explained by the arrangement of the various organs and linked abnormalities? In some cases a laterality sequence defect maybe inherited in an autosomal dominant inheritance. A person with laterality sequence defect may have heart defects, poor growth known as “intrauterine growth retardation” (a baby who is smaller than normal during pregnancy and usually have a low weight at birth), and organ reversal.

Laterality Sequence defects may pass on from parent to child. This is known as an Autosomal Dominant Pattern. The gene for this is carried on one of the 22 pairs of numbered autosomal chrosomes. Therefore you only need one copy of the malformed gene (the gene doesn’t work right). This mutant gene is needed for the development of a laterality sequence. Upon my reading, I found out that a copy of CFC1 is found on chromosome 2 and is involved in development of the left-to-right axis in human development. I also read that CFC1 is a consequence of visceral Heterotaxy as well as an erratic group of congenital anomalies that include difficult cardiac abnormalities and situs inversus or situs ambiguous.

Autosomal Dominant Inheritance

First of all, genes are the blueprints for making matter, called proteins, our bodies need to develop and work properly. As you all know, a lot of our genes come in pairs, one of which comes from the mother and the other from the father.

Autosomal dominant inheritance means that the gene carrying a mutation is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally likely to inherit the mutation. "Dominant" means that having a mutation in just one of the two copies of a particular gene is all it takes for a person to have a trait. When a parent has a dominant gene mutation, there is a 50 percent chance that any child he/she has will also inherit the mutation.

There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the mutation. The other 50 percent have not inherited the mutation. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy.

An important characteristic of dominant gene mutations is that they can have variable expression. This means that some people have milder or more severe symptoms than others. In addition, which systems of the body the mutation affects can vary, even in the same family. Another important characteristic of dominant gene mutations is that in some cases, they can have reduced penetrance. This means that sometimes a person can have a dominant mutation but not show any signs of disease. The concept of reduced penetrance is particularly important in the case of autosomal dominant susceptibility genes.

Some of the information noted above is from a various websites for which I noted below. I also copied and pasted some of the information for easy reading for my readers.
http://www.novelguide.com/a/discover/gegd_0002_0001_0/gegd_0002_0001_0_00239.html
http://www.novelguide.com/a/discover/gegd_0002_0001_0/gegd_0002_0001_0_00239.html

Genetics

We have been seeing Genetics at Children’s in order to find out if what Chloe has is hereditary. The Genetics want to out rule any chromosomal disorders as a cause of her problem. Therefore, Chloe, Dennis, and I have gone through chromosome testing. Chloe has duplication on chromosome 2p22.2. It turns out that Chloe’s daddy has the same duplication. Not sure what this means yet but my husband will be going through some testing to find out if he has any situs inversus. Abdominal Situs inversus may be linked by autosomal recessive, dominant or X-linked. Chloe is also having DNA testing done by the NIH in Maryland.

Recessive, autosomal: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent.

Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. Therefore, Dominant genes show their effect even if there is only one copy of that gene in the pair.

X-linked diseases are single gene disorders that reflect the presence of defective genes on the X chromosome.

To read more please visit the website noted below.
http://www.healthline.com/galecontent/laterality-sequence

Getting Over a Cold

The kids and I have been trying to get over a cold. I have increased Chloe's Asthma treatment. She is getting Pulmicort twice a day and Xopenex every 6 to 8 hours instead of taking her Flovent and Albuterol. Chloe seems to do better when we switch her Asthma Meds when she has a cold. She is still taking her Amoxicllin daily (along with her other meds). So far no signs of any infections but her asthma has been acting up a lot. My son Brady has been sick too. He is so cranky and I haven't had any time to write in my blog until tonight.

It has been so crazy around our home. I feel as though their is not enough hours in the day to try to get things done. My laundry is in dier need of being washed.

Think Before You Speak!

I wish people would think before they speak. I had a women today compare Chloe’s Syndrome to Asthma or Diabetes. This naive woman compared Chloe to taking an Amoxicillin Prophylaxis to an inhaler or insulin. Little does she know it does not prevent a child with Polysplenia from getting bacteria infections. Chloe also has Asthma and uses her inhaler twice a day. The medical community or people working with children need to understand that children with Polysplenia are septic to sepsis if antibiotics are not given to them right away. They have this mind frame that having many spleens mean that they are working at their full capacity. This is not always the case and unfortunately there is not enough research on Polysplenia to back it up. Thank God for Chloe specialist. She had a fever plan done for Chloe to help ensure that other doctors due right by her. Chloe’s Fever Plan helps guarantee that when she reaches a certain temperature & has signs of serious bacterial infection that CBC, Blood Culture, and ceftriaxone x 48 hours is done.

I was so flabbergasted by it and mad. I dislike being talked down to and yes I have a problem with this. It is my opinion; you should have all your facts together when making a strong statement to someone. I said to her that only 15 percent of people with Polysplenia will make it into adulthood. I know my daughter has a good prognosis and has a strong chance of making it beyond adulthood. However,along the way she may have obstacles to over come. This is what simple minded people forget. But, don’t belittle what she has and make light of it. I also told her that she should read up on it on the internet (medical journal sites) and contact the specialist who wrote the article on Polysplenia. In order to understand the syndrome better so the next time she speaks to a parent who has a child with Polysplenia she’ll be more sympathetic to it.

It is so important to spread awareness and it just takes 1 to spread the word. I am doing my part and I hope others will do the same.

Helpful Insights - Children's Hospital

Here are some helpful insights for you if you are looking for a Children’s Hospital

1. Finding the Right Children’s Hospital that is close to you.
National Association of Children’s Hospital – Provides a List for you
http://www.childrenshospitals.net/AM/Template.cfm?Section=Member_Hospital_Directory1&Template=/CustomSource/HospitalProfiles/HospitalProfileResultNew.cfm&ShowAll=1

2. Finding the right child friendly (good medical care and staff that work well with babies and children) ER hospital for you.
The Joint Commission accredits hospitals for child-friendly ER
http://www.qualitycheck.org/consumer/searchQCR.aspx

Simple Directions
First, input your ZIP code. Second, then look on the left-hand side and you'll see "Type of Provider." Click on the arrow, and scroll down to "Pediatric Facility/Setting for Care" in the alphabetical listing, and select "Pediatric Emergency Department." Hit "search", and the site will give you a list of ERs that offer services for kids.

However, if the “Pediatric Emergency Department" does not appear under the "type of services," that means there isn't a "kid-certified" ER in your area. You can then go back to the ZIP code page and widen your search.

Please keep in mind there may not be a "kid-certified" ER within a reasonable distance from your home. You can still take your child to a local hospital (and you should in case of an emergency. As always make sure to ask your pediatrician for recommendations and parents too.

3. You should also keep a list of medication that your child is taking especially if they have a health issue.
The National Initiative for Children’s Healthcare Quality provides a medication form you can fill out.
http://www.nichq.org/nichq

4. It is also a good idea to bring a “Fun Bag” with you
Small game toys, crayons, coloring book, doodle pad, small trucks or Barbie Doll
If your child has a comfort toy make sure you bring that. A distraction toy also comes in handy because a calm child is easier to treat, and the distractions may help the nurse or doctor who is treating your child. It will also help with an unpleasant procedure or tests.

***Parents should contact their pediatrician 1st for medical input on what is best for your child. The information here is only to lend a hand you if you need it. Make sure to always speak to your pediatrician first since they know your child’s health. ***

Thinking of you

I often find my self thinking about a woman who lost her daughter to Congenital Asplenia. Her daughter’s 1 year remembrance is coming up on April 27th. Her little girl passed away at 15 months.

Spreading awareness is ever parent’s goal whose child suffers from Asplenia or Polysplenia

http://sophiespleen.blogspot.com

Chloe's GI Appointment

Chloe had an upper GI done on 3/21/08. I haven’t received the report yet but I was told that it went well. Chloe has a small bowel. Her small and large intestines are reversed as well has her colon. Her intestines & colon are slightly more to one side. They will repeat the upper GI in a few years again to make sure that there are no problems. As a parent with a child with Heterotaxy I push for certain tests to take place (it is better to be safe.)

An upper GI series is a radiographic examination that produces x-ray images of your upper gastrointestinal tract, including the esophagus, stomach and small bowel or intestine. (The esophagus is the tube that runs from your mouth to your stomach.) This examination is performed for people with Heterotaxy because of their high incidence of intestinal malrotation and the risk of volvulus. Mid-gut volvulus may lead to a potentially life-threatening complication. To simplify it mid-gut volvulus is prone to twist counter clockwise around the superior mesenteric artery and vein.

For the upper GI examination to be successful, your stomach and upper GI tract must be completely empty. In Chloe’s case they wanted her stomach emptied for 6 hours prior to the examination. In some cases, you also may be required to take a laxative to help clear your digestive tract before the exam. Your doctor or the radiology department will give you specific instructions, which you should follow closely.

When you arrive for your examination, a radiographer will explain the process to you and answer any questions you might have. The radiographer will determine the amount of radiation necessary to produce a diagnostically useful image. Parents are often worried about this and should ask lots of questions to ease their concern.
Before the upper GI examination, the radiographer will give you a hospital gown to wear. This gown has no metal snaps on it, because metal can interfere with the interpretation of the image.

As always if you are a woman and maybe pregnant you should let the radiographer know immediately. It is important that you tell the radiographer the date of your last menstrual period just in case there is a chance.

The examination takes a long time. In Chloe’s case 5 hours because they were looking for any malrotation of the intestines. This includes prep time. Inside the x-ray room, the radiographer will take an x-ray of your abdomen to make certain that your stomach is empty. Next, you will be asked to stand at the end of an erect x-ray table or to lie down on a tilting table attached to a fluoroscope, which is a x-ray unit combined with a television screen. A radiologist will come into the room and give you liquid barium to drink. Barium is a special white or pink compound that permits radiographic image of the gastrointestinal tract. The Barium can be flavored and make sure to ask them what flavors they have. Chloe had strawberry flavored Barium. It coats the walls of your upper digestive tract, casting shadows that can be recorded on x-ray film.

Some people may be also asked to swallow "fizzy" granules to help put air (gas) into your stomach, which will distend it. You may feel a need to belch. You should try not too “belch” if you can. Between the air and the barium will permit the radiologist to see your stomach in much better detail.

As the barium flows down your digestive tract, the radiologist will ask you to turn in various positions while he looks at your and stomach on the fluoroscope. X-rays will be taken throughout the procedure. Make sure to let them know, if you feel uncomfortable or are not able to turn over, you should tell the radiographer or radiologist. Keep in mind that they want to make you as comfortable as possible and at the same time perform a successful exam. You should also tell them if your child needs to take a break. Please keep in mind that this is a long exam and your child may be become irritable. Remember to bring rewards for your children for doing a good job. Every time there is a break give them something to enjoy. NO food or drinks but small little odds and ends toys, coloring books or there favorite character books to read.

After the fluoroscopic portion of the examination is finished, the radiographer will take regular x-rays of your stomach and abdomen. You may be asked to drink extra amounts of barium.

When the exam is complete, the radiographer will process your x-ray films and decide whether they are technically satisfactory. The films then will be given to a radiologist to interpret. Radiologists specialize in the understanding of medical images. Also be prepared that you might need to take more x-rays and drink more of the barium solution.

At this point, the images will have to be reviewed by the radiologist. You’ll also have to wait for your doctor to get back to you with a report on the findings. Then your doctor will advise you of the results and discuss what further procedures, if any, are needed.

Make sure to have your child drink lots of water for the next few days following the exam. The barium may make your stools white for a few days. This is normal. If you experience constipation following the examination, tell your doctor. They may advise you to take a laxative.

Please make sure to contact your doctor with specific questions about a medical imaging procedure and for more information.

For further information please see:
http://radiographics.rsnajnls.org/cgi/content/full/26/5/1485

Telling the truth

Mommy, tell me the truth. These are words that I often hear from my daughter. After a while, Chloe realized that I was fibbing to her in order to get her to the doctors. Chloe has such a fear of doctors. Like most kids who have a syndrome or a disease she spends a lot of time going to Children’s Hospital for doctor's visits. I have always had this need to protect my daughter and shield her from pain. But that is not always possible.

One day Chloe asked me, “Mommy why do you not tell me the truth. You should not lie.”

I said, "Mommy does not want you to think about and worry about going to the doctors. You get upset and start to cry and then you don’t want to leave the house.”

Chloe said, “Mommy I am going to cry anyways.” But if you tell me the truth it will be better. I want to know what they are going to do. I want to know if I am going to get blood taken out.”

At that moment, I knew that I could no longer lie to her but I had to be honest with her. I said to her, "Chloe I am sorry. Mommy was wrong to lie to you. I will tell you the truth.

Chloe smiled and said, “Mommy you pinky swear to always tell me the truth.”

I told Chloe, Mommy pinky swears."

As I sat there fighting back tears; I quietly thought to myself, all I want to do is protect her. Shield her with my arms to keep her safe. It hurt so much because I knew that I could not always shield her from pain. All I could do is make it better with love and support.

It was heart breaking to me because I knew she was not a baby anymore but a little girl. She grew into a wise little girl who knew she was different from other kids. She is also caring and tender. But, don’t let these sweet qualities fool you. Chloe is very stubborn and very determined to get her point across. She is a typical five year old and feels she knows what is best for her.

Chloe is lucky and has a good prognosis but along the way she may have obstacles to over come. These are the obstacles of life that I want to protect her from. Even if I promised to always tell her the truth.

A future Plan

I would love to start my own website and call it "THE DIFFERENT FACES OF HETEROTAXY". A place where moms and dads can come and share pictures and stories of their little ones with Heterotaxy with polysplenia or asplenia. I want to raise awareness of this rare (confusing) syndrome. Hopefully, in the next few months, I will be able to start working on my website. If anyone has any ideas for my website please leave your comment. Any input is welcomed.

Update on Chloe: Chloe has been doing well. She is getting over her sinus infection. She was put on Zithromax for five days then for 3 weeks she'll be on IC Cefdinir. I am in a hurry for summer. Chloe seems to do better in the summer months.

Chloe's Sinus Infection

Chloe went to the doctors today and she has a sinus infection so she's on Zithromax. We caught it early enough so I am hoping she'll be fine.

A sinus infection is an inflammation of the sinuses and nasal passages. It is very important to watch out for certain signs that your child may be developing a sinus infection. Your child can have any one of these symptoms.

Headache
Pressure around the eyes, nose check area or on one side of the head
Cough
Fever
Bad Breath
Nasal Congestion w/thick nasal secretions
Soar Throat

Always make sure to call your child's doctor for an appointment if your child is not feeling well. Especially if you think they have some type of infection or has a fever.

For more information on Sinus Infection please see the website noted below.
http://www.nlm.nih.gov/medlineplus/ency/article/000647.htm

Specialists, Studies and Tests

Types of Specialists a child with Heterotaxy with Polysplenia or Asplenia may need to see:

Cardiologist: A specialist in the treatment of conditions related to the heart
Gastroenterologist: A doctor who specializes in issues related to the gastrointestinal system, including the intestines, stomach, liver, and other organs
Immunologist: A physician who cares for children with problems involving the body's immune "defense" system
Infectious Diseases: A doctor who specializes in treatment of illnesses caused by infectious organisms such as viruses, bacteria, and parasites in any organ of the body
Genetics: The branch of biology that deals with heredity, especially the mechanisms of hereditary transmission and the variation of inherited characteristics among similar or related organisms
Otolaryngologist: A doctor who specializes in issues related to Ears, Nose, and Throat
Pulmonologist: A doctor who specializes in issues related to lungs

Studies involving Heterotaxy…Chloe attended a study back in January 08 at NIH & we found it very helpful…

http://clinicalstudies.info.nih.gov/detail/A_2008-H-0067.html
http://www.bcm.edu/immuno/?pmid=1998

Tests your child may need if they have Heterotaxy with Polysplenia or Asplenia
Upper GI
Abdominal Ultra Sound
CT scan
Echocardiogram
EKG
CBC count

A Fever Plan

A fever plan is a must have if your child has Heterotaxy Polysplenia w/Funtional Asplenia or Asplenia. A fever plan can be done by your child's immunologist. It is a letter telling other doctors what needs to be done when your child reaches a certain temp. For instances, Chloe's temp is 102 degreess. Therefore, Chloe needs to have a CBC+DIFF, Blood Culture, and at least IM/IV ceftriaxone (in addition to any other antibiotics clinically indicated) until blood culture is negative x 48 hours. The decision to admit her to the hospital should be based on her clinical presentation.

Keep in mind even though your child has polysplenia the spleens may not be working at 100 percent so sometimes it may be treated as funtional asplenia. They may need to take a daily antibiotics & sometimes with bacterial infections they may need something even stronger.

***Consultation with an infectious disease specialist may also be warranted if bacterial infection is suspected because patients with polysplenia associated with abnormal splenic function are more susceptible to certain bacterial pathogens.***

Happy Medium

How do I start to find a happy medium for Chloe? As a parent, I need to do what ever I can to help her along the way. My only wish for her is that she never feels sorry for herself and to believes in herself like I believe in her. I want her to have as much as a normal childhood as possible. However, the other side of me wants to put her in a bubble to protect her. With that said, I need to find a happy medium. She needs to experience everything life has to offer and at the same time be a little caution of it.

What is Heterotaxy

Heterotaxy, or Situs Ambiguous, refers to the abnormal arranging of the body organs. This is different from Situs Inversus (mirror image of situs solitus/reversed from left to right) or Situs solitus (the normal position of the organs & vessels w/in the body).

The following may be assocaite w/Heterotaxy

Congential Heart Diseas: Cardiac looping malformations – commonly Fallot’s tetralogy, transposition of the great vessles, pulmonary valve stenosis, and ventricular and atrial septal defects.

Abnormal postion of the body’s organs - the stomach and spleen are particularly prone to isolated reversal, and the stomach, liver and a single adrenal gland are occasionally found in the midline.

Organ malformations (part of the body is misshapen or malformed) Spleen: asplenia (no spleen) – polysplenia (many spleens) and more rarely a failure of the head of the pancreas to form, and horseshoe adrenals and kidneys

Rotation errors, causing volvulus and/or faulty peritoneal attachments.

More rarely, vascular abnormalities (related to blood vessels) are found, including interrupted inferior vena cava, bilateral superior or inferior venae cavae, intrahepatic interruption of the inferior vena cava with connection to the azygos or hemiaxygos veins, and aberrant portal veins.

Other terms used in Heterotaxy are cardiac (heart) positions: malposition (used to describe both the location of the heart), dextrocardia (refers to the heart being situated on the right side of the body), levocardia (normal position), and mesocardia (heart in the middle of the thorax).

Complications from Asplenia or Polysplenia Syndrome are: increased risk of congenital heart disease, immune deficiency (this is due to splenic absence or function of the spleen), and catastrophic volvulus with malrotation (twisting of the intestines) are due to severity of this disease.

What is a spleen? The spleen is located in the abdomen of the body; the function of the spleen is to destroy old red blood cells & holds a basin of blood. The spleen plays a role in the immune system. The spleen helps clear bacteria from the bloodstream. A patient with Asplenia is at significant risk for life-threatening infections & fulminant sepsis especially for the 1st 2 years of life. Also a person with Polysplenia can have a functional asplenia where the spleen is not working at a 100%. It has been noted that after age 6 months, Streptococcus pneumoniae and Haemophilus influenzae type b may cause fulminant sepsis; Neisseria meningitides is less common. Malaria, babesiosis, and certain viral infections may also be more severe in individuals with asplenia. The younger the patient at the time of splenic function loss, the higher his or her risk for serious infection.

Asplenia: Asplenia is most often found in alliance with other anomalies. Such as Ivemark syndrome, this is also known as asplenia syndrome. Visceral Heterotaxy is present with bilateral right-sidedness. The right-sided organs are duplicated, and organs that are normally present on the left side are missing.

Polysplenia: The stomach may be on the right side, and multiple spleens are found along the greater curvature. Absence of the hepatic portion of the inferior vena cava with an azygos venous connection is distinctive. Information regarding how well the spleen works is limited. Reports vary from suboptimal function to normal function. Accessory spleens should be distinguished from polysplenia. In polysplenia, a normal spleen with multiple spleens involvement is not present. This is why they call it a functional Asplenia. Accessory spleens are usually located in the hilus of the normal spleen or in the tail of the pancreas. The accessory splenules are typically tiny and clinically unimportant, but they may become hypertrophied in specific situations. Polysplenia may be regarded as bilateral left-sidedness, and it may be associated with left atrial isomerism (syndrome in which generally unpaired organs, develop more symmetrically in mirror image; two or more spleens, one on each side, are usually noted, and cardiovascular anomalies are frequent).

For more information on Heterotaxy with Asplenia or Polysplenia please see websites noted below. This is where a lot of my information comes from (you know I did not come up with all this on my on). I just took what I thought was easier to understand for my readers.

http://www.emedicine.com/PED/topic2513.htm
http://www.emedicine.com/ped/topic2514.htm
http://radiographics.rsnajnls.org/cgi/content/full/19/4/837