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.



Monday, March 13, 2017

"...Not Because (it is) Easy..."


       Over the last two years I’ve been deeply encouraged by figures of history who have done tremendous things, despite illness.  When I was a child we learned about heroic figures such as Abraham Lincoln or John F. Kennedy, but somehow their ailments and struggles were omitted from what we learned.  Perhaps historians felt these facts would somehow make them weaker figures.  Yet, I have found that knowing these figures’ struggles and hardships have left me with an even greater awe and admiration for these people I have never met.  In fact their personal struggles, I believe, make these figures’ stories more beautiful.
       It all started last year when Christopher got a cold and was out of school for a couple of days.  His class was learning about Theodore Roosevelt.  I got several books from the local library and was fascinated to learn that he
Christopher as JFK next to his project for school.
was sickly as a child, and often struggled to breath.  As we read about Theodore and then Franklin (who had polio) I was very intentional about trying to connect how these leaders were able to accomplish great things in the midst of pain, hardship, and illness.  I definitely got the “Yeah, yeah…” response, any seven year old little boy might give.  Yet, it challenged me, as I started to recall other biographies I had read, where people overcame not just personal hardship but physical ailments to accomplish important things.  Abraham Lincoln struggled with depression, Helen Keller was blind and deaf, and John F. Kennedy had such severe back pain that he had meetings with close advisors while soaking in his bathtub! 
We were so proud of the hard work he put into this project!
A little over a week ago Christopher participated in history day at his school.  He spent about three weeks researching John F. Kennedy in preparation for the speech and project he created.  It’s embarrassing to admit, but all I knew about JFK before this project was that he was Catholic and was assassinated.  It was eye opening to learn more about his journey, especially his illnesses and personal tragedies.  Christopher and I discovered together that this historical figure was very sick as a child, dealt with severe chronic back pain, was diagnosed with Addison’s disease, and had two siblings die as young adults.  Kennedy refused to let these challenges prevent him from accomplishing his goals, and Christopher seemed to connect this more to his own life this time.  Again I was inspired and hopeful.
One of the many notes he took for his project.
            John F. Kennedy said, “We choose to go to the moon… and do the other things, not because they are easy, but because they are hard.”  When Christopher was in my belly, I often prayed that he would be a “fighter.”  That this child I had would know the importance of not giving up, no matter what.  LCHADD can make certain tasks feel harder at times, but this doesn’t have to be the end of Christopher’s story.  The longer I live, the more I believe that the power to change things for the good is born out of struggle.   My hope is that Christopher will use his struggles to create beautiful and powerful changes in this world.


*In loving memory of Grandma O, who adored JFK and my sister, Veronica, who taught me about courage and pain.

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