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barth syndrome

Pickles & Chapstick: barth syndrome

Tuesday, November 6, 2012

barth syndrome


There is a genetic condition that runs in my family called Barth Syndrome. This is something that I've briefly mentioned on here but never fully discussed it. I've gone back and forth debating if I wanted to write about it or not. It's currently 11pm and I've been checking my son's temp every 15 minutes to half hour making sure his fever doesn't spike and worrying because as a parent of a child who has Barth Syndrome that's what you do. Barth Syndrome is a rare genetic condition that many people don't know about so maybe it's best if I help shed some light on this. 

Barth Syndrome is a newer condition. It was found in the 80's by Dr. Barth. Barth Syndrome is an x-linked genetic condition and it's transmitted from mother to son. A mother who is carrier shows no signs that she is a carrier unless she's tested. There's a 50% chance that a boy born to a female carrier will get it. There's also a 50% chance that a female carrier will pass it down to her daughter and her daughter would become a carrier. There are certain characteristics of this multi-system disorder. 

Cardiomyopathy - weak heart muscles associated with an enlarged heart

Neutropenia - a reduction of the white blood cells (those are the cells that help fight off the nasty infections)

Underdeveloped Skeletal Musculature/ Muscle Weakness - all muscles (including the heart) have a cellular deficiency which limits their ability to produce energy. 

Growth Delay - During childhood most affected individuals are below-average in height and weight. 

Exercise Intolerance 

Cardiolipin Abnormalities - the mitochondria is unable to make adequate amounts of tetralinoleyol-cardiolipin which is an essential lipid for normal mitochondrial structure and energy

3-Methylgutaconic Aciduria, Type II (MGA, Type II) - abnormal mitochondria function (which is basically the primary energy producers in cells) 

In the past boys who have suffered from this died by the age of 3 from either heart failure or infections. Due to improved diagnosis, proper medical treatment and monitoring of symptoms this statistic has changed. Last I knew, only about 100 boys in the entire world were diagnosed with this. It's that rare/not widely known that there could be many boys who have it. Recently they started using arginine supplements to help with the heart issues and it's been working well for some of the boys. 

Barth Syndrome is something I've spent my entire life dealing with/knowing about. My Oma had three sons who died before the age of one from this. At the time they had no idea what was causing the heart failure. My Uncle Jay had a form of Barth Syndrome. He was lucky enough his heart wasn't affected but he was weaker and smaller than most boys growing up and he was known to get tired easily. When my younger brother was born (in '87) my mom knew something was just not "right" about him. My mom was a nurse and she knew her family's medical history. My brother at 3 months started having heart failure symptoms and eventually went into heart failure. It was at Children's Hospital in Philadelphia is where he was diagnosed with Barth Syndrome. He was in the right place at the right time. The Barth specialist happened to be there at the time my brother was admitted. I dont' remember much from when my brother was in the hospital there. My mom tells me stories about how I'd play with other kids who were suffering from cancer or other horrible things and I never once thought twice about it and it never bothered me and I never asked any questions as to why some were hooked up to machines or why some didn't have hair. My brother was a very sick baby. He was constantly in and out of the hospital and if he wasn't in the hospital he was sick with something because of the neutropenia. His body had a very hard time fighting off any sort of infection. When Jimmy (my brother) was diagnosed with Barth Syndrome they used all sorts of medication to treat them. Shortly after my brother was diagnosed with Barth Syndrome my parents divorced. I remember being a kid and I knew my brother's dosage and what medicines he had to take when, etc. I think my maternal instinct kicked in at an early age because of this. Even though he drove me up the wall I felt the need to constantly look out for him and my friends felt the same way. He was a typical "barth boy" by the book. He could never keep up with his peers this also interfered with his school work. He had to go to special ed which damaged his self esteem not because he had a learning disability but because he was physically unable to keep up with the rest of the kids. If the kids had a writing assignment in class, my brother couldn't keep up because he'd get tired. In gym class he was never able to keep up with the rest of the kids. He was also notorious for falling asleep in class and sometimes he got lucky with a teacher who wouldn't make a big deal about it. My poor mother had battles with our teachers. Eventually my brother would be home schooled because the school district no longer was accommodating towards my brother's growing special needs. 

My brother is now 25 years old. He recently had a ICD implant so in the case he does ever go into cardiac arrest or heart failure this device will "shock" the heart. It's very similar to a pacemaker. My brother has never been able to work because he can't lift more than 15-20 pounds. He gets tired very easily and by easily I mean walking around a grocery store can be a bit much. I'll never know what that must feel like but I can only imagine. As a child, I was angry and jealous with him because I felt neglected because he required so much attention. Deep down I knew why but when you're 6 or 7 it's just an annoyance for you at times. My brother is living proof that miracles do happen because when he went into heart failure he almost didn't make it. Jimmy is also one of the oldest diagnosed boys with Barth Syndrome. We may not be as close as we once were and we're like night and day and disagree more than we agree but I love him and there's almost nothing I wouldn't do for that kid. My younger brother is as smart as a whip (he was breeding sea horses as hobby for a while) and has a great sense of humor. 

When I found out I was pregnant with Charlie I was automatically considered a "high risk" pregnancy for many reasons. I had to switch OB's for this very reason and was paired up with one of the best OB's I have ever had to deal with. Upon finding out that Charlie was a boy I was quickly tested to see if I was a carrier. Deep down I knew I was a carrier. I was devastated when it was confirmed. It was recommended that an amino needed to be done to see if Charlie had Barth Syndrome or not. I was hesitant because I knew the risks of amino's. I couldn't bear to lose him. I was quickly persuaded and deep down I knew this was going to be the right thing to do. My Oma was the driving force behind the amino and if she was certain I was going to be okay then I knew I was going to be. I remember the day I got the phone call that the results were in and Charlie indeed had Barth Syndrome. It was paralyzing. I was alone and all I could do was cry. Nothing my mom or my Oma could tell me made me feel better. I felt like a horrible mother because I was the one who passed this onto him. The pregnancy was already kinda rough and this was icing on the cake. Charlie was one of the first Barth boys to be diagnosed in utero. My OB being the amazing doctor that she was set everything up for me. I saw all the right doctors. All the doctors were contact with the Barth specialist. Charlie's father and I spoke with the Barth specialist on the phone. I had several fetal echos done and several fetal monitoring sessions "just to be sure". We even got a special tour of the hospital before I delivered. We met with all the nicu specialists just in case we had to go down that route. Everyone at the hospital was prepared for Charlie's arrival. 

After being 5 days late and being in labor for 22 hours, Charlie made his entrance into the world. The doctors and nurses were "on point" with him and I'm forever thankful for that. He did spend a week in the nicu after his birth. A year later and it's still difficult for me to talk about without crying and I'm not sure I'll ever be able to blog about it because it's so personal. Looking at Charlie you would never know that he has a rare genetic disorder because we're very blessed that Charlie has been doing so well. His weight is on the smaller side but height wise he's above average. I'm sure that has nothing to do with the fact that his father is over 6 feet and my father is 7 feet tall. The only thing that makes Charlie different than most kids his age is that he sees specialists every 3 months. He gets an echo to keep tabs on his heart and he gets labs drawn to make sure his levels are okay. We had one incident where he got a fever really fast and it caused a seizure (nothing to do with the Barth Syndrome) so that makes us a bit crazier about fevers. Even though Charlie is doing really well that doesn't make us not worry. We made the decision early on that we wouldn't let Charlie be defined by Barth Syndrome. This is something that my brother was defined by and I think it did more harm than good. You want them to be aware of what they have but you don't want it to consume them. Since Charlie does have something rare I'm a freak about what he eats. I research the hell out of everything and I only feed him the best of the best or at least I try to. That's why I make his own baby food because I like knowing what goes into his body. Knowing that boys are put on arginine supplements if needed, I decided it could only be beneficial to feed Charlie arginine enriched foods. I did my homework on what foods were high in what and I take it with me whenever I go grocery shopping. His doctors have been very supportive of this. Knowing that Charlie can be prone to infections I also clean the hell out of toys, clothes, vegetables and fruits before giving it to him. He recently started drinking milk and I did my research to make sure that we'd find the best fit for him. He drinks organic whole milk that's pasteurized because unpasteurized milk contains harmful bacteria that could make him really ill. I'll start writing more about the baby food and finger foods I make for Charlie. It's actually a lot of fun and I love coming up with fun and interesting recipes.  

Like I said before, I was on the fence about writing about this but knowledge is power and the more people who know about this, the more lives can be saved. I'm not a doctor so don't quote me on all of this but I relayed the facts as best as I could. I hope one day there's a cure for this because any life that is taken because of this is one life too many. If you want to learn more about Barth Syndrome, please visit the website.  

This post was a semi emotional one to write. I'm thankful I had Bruce Springsteen (don't ask me how many times I listened to Jersey Girl) and Billy Joel to keep me company. I better hit the sack because 5:30am rolls around fast (if not earlier).

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5 Comments:

At February 13, 2013 at 10:28 AM , Blogger Barth SyndromeFoundation said...

Beautifully written Rachel.

 
At February 13, 2013 at 11:08 AM , Blogger Amy said...

<3

 
At February 13, 2013 at 12:57 PM , Blogger Woody said...

My son, Connor, has Barth Syndrome too. He is 2.5 years old. He had unexpected, major problems during birth and he wound up spending a month in the NICU. He was diagnosed with cardiomyopathy and extremely low muscle tone at one week of age, but the underlying cause (BTHS) was not officially diagnosed until he was 18 months old. In fact, tomorrow, Valentine's Day, will be the one year anniversary of his diagnosis. We are living and experiencing many of the same things you are. For your info, there are currently 88 known cases of BTHS in the USA, approx 159 worldwide. Hang in there and thanks for sharing.

-Kevin Woodward
Baltimore, MD
husband to Stacey, father to Connor (2.5 years old, BTHS)

 
At February 13, 2013 at 9:03 PM , Blogger Rachel Lawson said...

Thank you!

 
At February 13, 2013 at 9:06 PM , Blogger Rachel Lawson said...

Thank you for the info. Hope the little guy and your family is doing well!

 

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