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.



Tuesday, February 21, 2012

What does daily life look like?


In a lot of ways, from the outside looking in, our daily life with Christopher looks very similar to other families who have a three-year-old child. Christopher loves playing basketball, making art projects, reading books and is just curious about life. He also loves to test boundaries and must endure the occasional “time-out”. Christopher is a bundle of energy and we are always so excited to watch what he will do or say. (You know kids are the funniest creatures around!) Recently, when asked if he was excited about going to pre-school next year he responded, “Will there be girls there?” When I smiled and said, “Yes.” He continued, “Will they tickle me?” It took all I had not to burst out laughing! Then there was the trip to the grocery store where he just looked up at me and said, “I love my mommy!” How could your heart not melt! We are very thankful for all that feels “normal” and we are so grateful to our metabolic team, who has worked so diligently with us to make sure that he is as healthy as possible.


The challenging things for us are the unseen things. There is the constant counting of fat. Fat is in everything, even fruits and vegetables. He can only have 5 grms of fat a day right now, so you can imagine how quickly that adds up quick! Then there is monitoring to make sure that he eats enough to sustain his daily adventures. Typically this means he eats about every two hours or more. Lastly, we try to monitor, as best we can, his exposure to illness. The reason for this is that if he catches a cold or a stomach bug where he cannot keep food down, his body will start to metabolize muscle and he will have to be hospitalized.


But honestly, to look at him all you can see is the amazing kid he is and precious young man he is becoming.

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