On August 11, 2008 we gave birth to a beautiful baby boy, Christopher Harry! Christopher was one of the first babies in GA to be picked up on the newborn screening with a rare inherited Fatty Oxidation Disorder called LCHADD (Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency). As Ryan and I (Stephanie) gained more understanding about our son's condition and began to watch him grow and thrive, we had a desire to share our story and raise money for research. We hope that by sharing our story we can raise awareness/encourage education about LCHADD and provide hope to other families whose child(ren) have this condition.


This blog shares our journey, hopes, and fears. We also want this blog to contain practical information! Entries will include: yummy recipes, how we manage his LCHADD, conversations about medical issues, educational tools, and useful links on the side of the blog! If you are ever curious about something I have shared feel free to contact me personally!

What is an FOD?

WHAT IS AN FOD?


FOD stands for Fatty Oxidation Disorder. For children and adults with FODs their bodies have difficulty breaking down (or oxidizing) fat to use it for energy. This occurs when an enzyme is missing or not working properly. There are several different kinds of FODs. Some examples are SCAD, MCAD, VLCAD and LCHAD deficiency. Fatty Oxidation Disorders are genetic, which means both parents must have the recessive gene in order for their child to end up with the disorder. It also means that children with FODs will not grow out of their condition. Their condition is just as much a part of who they are as the color of their eyes or hair.

What is LCHADD?

WHAT IS LCHADD?


LCHADD stands for Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Essentially children with this condition cannot utilize long-chain fats for energy. Did you know that the food that we eat has different size fat molecules in it? I never did until Christopher was born! There are short-chain fats, medium-chain fats, long-chain fats and very-long chain fats. I picture them as different size caterpillars (and this is how I explain it to Christopher) running around in our food. The short, medium, and very-long chain fats children with LCHAD can process. Unfortunately, most of our food and oils are primarily long-chain fats (the ones Christopher can’t process). If Christopher eats too much fat (right now he can only have 8-9grms of fat a day through food) then the fat will gather in his liver, kidneys and around his heart.


The other issue with Christopher not being able to breakdown long-chain fat is that it is a great energy source. For most of us, when we exercise or get sick and we burn through all of our glucose stores we start using fat for energy. Christopher’s body cannot do this, so his body starts to break down muscle and use it for energy instead. To say that this is “not good” is to speak lightly. When your body starts breaking down muscle you run the risk of having problems with lots of different systems in your body. Doctors worry the most about your kidneys because kidney failure can happen when your body is trying to process all of the broken down muscle (or myoglobin which is the by-product of the broken-down muscle).


In general, children with LCHADD are put on a very low-fat diet, drink a special medical formula, and most often use MCT oil (a unique oil comprised of medium chain fats) to give them a source of sustaining energy. Christopher's special medical formula, Lipistart, helps to ensure that he gets enough essential fat for brain and eye development without getting too much fat that his body can’t process. Lipistart also helps to provide a consistent form of energy for him throughout the day.



Thursday, May 10, 2012

Race Day!

Sunday morning anticipation was in the air as we woke up at 4:30am.  Ryan and I had set out all of our clothes and equipment the night before, so all we had to do was gather last minute items in the wee hours of the morning.  By 5:15am we were out the door, leaving Christopher with Ryan's parents, who would meet us at the beginning of our triathlon closer to our start time.

We arrived at Chastain Park around 6am to set up our "transition material" in the bike area.  It was amazing to watch all of the race participants setting up there things and learn their methodology and approach, so as to have a quick transition.  When the race started I was awed at all of the people in the pool doing laps.  In all my years of life guarding I had never seen such a spectacle!  For the most part it was pretty civil, but there were definitely feet kicking various people out there!  Ryan and I started about 20 people from each other, but Ryan quickly caught up to me on the bike and we did the bike and run together!  Overall, we did very well.  We finished our 400 yrd swim, 15 mile bike and 3mile run in exactly two hours!  The most challenging segment for both of us was the bike, as the hills were monstrous!  We knew that the hills would be challenging and so we trained a lot on hills, but the steepness and length of each one was crazy!  Ryan laughed at me trucking up one hill because I grunted so loud (I couldn't let it conquer me!) he could hear me twenty feet behind him.

It was so encouraging to have close friends along our transition sites cheering us on and Christopher yelling, "Go mommy and daddy!"  The best feeling came after the run.  My legs were completely numb at this point (numbness is better than pain I guess!)...and as we crossed the finish line...it just all felt worth it.  All the training, all the communication about LCHADD, all the fundraising...and then seeing Christopher and knowing that only good could come out of all of this...and knowing that he will be effected by the goodness.

Thank you to every friend, family member and acquaintance who has taken the time to lovingly read our blog, learn more about LCHADD and donate money to Christopher's metabolic clinic.  As of this Tuesday, with your help, we raised $9,760.  It takes about a week before money is processed, so we are expecting that money donated last week will be tallied up by next Tuesday.  I am excited because I am hopeful that we will have reached our goal!  If you haven't donated and meant to, or would like to, it is still not too late.  You can mail it to the address below or donate on-line at the link on the side. (I know there has been some confusion with the on-line link.  The appeal code for on-line giving is different than the one below but it still goes into the same account.  When you go to the on-line site the direction box will say, "School of medicine" and below it will say "Nutrition Research"...this is all correct!  Sorry about the confusion!  But thanks for everyone's diligence in wanting to make sure your donations go to the correct place!) 
 

And hey, even though the race is over, the fight to help children with metabolic disorders and raising awareness about LCHADD will continue!  So please check in and continue to read our blog and pass it along to friends!  Knowledge of FODs, their struggle and process will only better their care!  I have several more post ideas brewing...that will include cute pictures of Christopher (in case you need something to lure you in....lol)... I will be posting soon!  Much love!  ~Steph, Ryan and Christopher


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