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.



Wednesday, March 21, 2012

Race and Fundraising Update!

Okay, so pictures from last Easter were probably not what you expected to see under this title. But lets be honest, is there anything more glorious than a child running after Easter Eggs (especially when he is still at the age that it is more about the hunt of the egg rather than what is inside...)! And while we are being honest, looking back on pictures like these remind me not only how lucky we have been with Christopher's health...but encourages me to continue training for our Sprint Triathlon, even when it is difficult.

Difficult? Yes! I am not going to pretend that I have gained some super athletic power sense being in the hospital. Even Ryan is feeling quite challenged by the swim! But we are training hard. We take Christopher on bike rides with us once or twice a week. And he can still squeeze into the jogging stroller so we try to do a couple mile jog together once a week. Then we go to our local "Y" for lifting , running and swimming. Two weekends ago we did our first 16 mile bike ride without Christopher and tried a two mile run afterward. The bike ride went great. Ryan felt great...I was a little exhausted. Then we started our run. 5oo yards into our run I tripped and fell. I remember (as I was flying through the air-literally) that I needed to land in such a way that I didn't hurt myself too bad...as I came down on my hands and knees I mostly succeeded. My knees were busted open, and my hands scratched up...but no broken bones, chipped teeth...I did great! Well, that was until fall number two. (Can you believe I fell twice during one run!) So maybe it was the uneven sidewalk...or maybe it was just being tired...but that second fall I sprained my ankle...which left me healing for about a week before I tried to run again. I knew that training would be painful, but honestly I haven't scrapped my knees since high school and those boo-boos hurt when you are old! Who knew!

This week we are training strong...and hope to do another 16mile bike and complete a two mile run (and maybe our swim) in a couple weeks. We will see! In the meantime pray that I keep my balance and lift my feet off the ground when I run...lol!

On a fund raising note so far we have raised $1, 475 for the clinic. Emory keeps track of donations that are coming in with the various codes that are posted on them. We are so appreciative for all that you have contributed so far! As we see support come in, we are reminded of the vast community that is around us! It is our hope that we can raise $10,000 for the clinic, so if you have not donated yet, please consider this possibility! I keep thinking if we can just find 400 people to donate $25 we will meet our goal!

Thanks for all your love, letters, thoughts and prayers!
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