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.



Saturday, February 18, 2012

Our Story

Christopher was born on August 11, 2008 through emergency c-section. Many of you who are reading this blog are probably very aware of how scary that first month was for our family and friends. Although Ryan and I had prepared to have a natural childbirth by attending Bradley Method Classes, when I arrived at the hospital late in the evening on August 10th my liver and kidneys were failing. The doctors had hoped that delivering Christopher would help my body heal and get better. What nobody expected is that I would spend the next two weeks in the ICU on life support with kidney failure, liver failure and fighting for my life. Family and friends gathered around us with love, support and prayer. There was a huge question in the midst of all of this, ones that the doctors and nurses asked too, “Why?” I had been so healthy my entire pregnancy, it didn’t seem to make any sense. Then Christopher’s newborn screening came back positive for LCHADD and a lot more started to make sense. A high percentage of moms who give birth to children with LCHADD go into HELLP Syndrome. It is unclear why, but one theory is that my liver was trying to compensate for what his liver couldn’t do. This is just a theory, but this is how we have come to reconcile it all.


Christopher was the first baby to be diagnosed through the newborn screening in GA with LCHADD. This means that he was able to be on the proper treatment early on in his life. Before LCHADD was added to

the newborn screeninng, nearly five years ago, many children with this deficiency either died in their sleep or ended up in the hospital in severe crisis. Many of these same children struggled to grow and have energy to do daily activities. Christopher’s experience has been quite different because he has been on his medical formula, Lipistart, since his second week of life. He has grown and thrived into an active little boy these last three years! Christopher has remained in the 90th percentile for his height (he obviously takes after his dad) and his weight has remained around the 50th percentile. His energy level so far has been amazing as well! If you have ever gotten to meet Christopher, you will soon see that behind his sheepish smile is an excited little boy who loves life. Whether he shouts, “Hooray!” because he is excited to see you or starts singing a song that doesn’t quite make sense, his joy is contagious!


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