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, February 23, 2015

The Ebb and Flow of this Year



He helped create this costume for a book parade.
I have started this post so many times!  First I went with the title, “School Update” and then “How to keep eating with a stomach bug!” but every time I have started writing a post Christopher has gotten sick within 24 hours, my brain became foggy and finding the right words to share about our adventures through kindergarten felt impossible.  So here I am again, hopeful to finish my peace before we gear up for another adventure!
            This year has been filled with continual unpredictability.   I must admit that for a type A personality, who takes comfort in some level of routine and organization, I have found myself continually stretched.  Although Christopher has not been hospitalized so far this year, he has missed 23 days of school due to illness and several other half days. 
            Sick days for Christopher come with varying degrees.  There are days when he is so sick that all we can do is sleep, read, and head to the toilet, but most sick days with Christopher are due to colds and viruses.  These typically leave him run down and more tired, but capable of accomplishing some educational activities.  During the first couple days of a cold he stays home to get extra rest, hydration and fuel (calories) to help fight the virus without going into crisis.  On these days I try to let him sleep in longer and add a nap mid-day.  We do at least two hours of “home-schooling” with frequent hydration/food breaks to keep his “brain fueled up”.  Then we attempt a puzzle, make a Lego creation, read books, or watch a movie.   His sick days look so different than the ones that I had as a kid, and I believe they really need to.   When I was sick all I remember doing is sleeping, reading and watching TV…but I knew early on this year that Christopher would miss more school than the average kid, and I didn’t want this to mean he missed out on the opportunity to learn!  Supplementing at home is challenging and fun; I will talk more about this in another post!
Christopher and his two best buddies at the pumpkin patch.
            This year has felt a little chaotic to me because Christopher goes to school for a couple days (max two weeks), gets sick, stays home, goes back to school, finishes getting over his cold, and then within a couple more days comes down with something else.  Yet, Christopher still loves school!  He loves learning from other caring adults, he loves his friends and he loves the challenges that being in another environment brings.  At this point Christopher seems fine with his time at school being a little different than his friends, and when I asked him if he felt like he missed a lot of school this year, he said, “No…maybe like three days!”  So although I have found our rhythm to be challenging, right now I wouldn’t consider doing anything else.  He is happy, thriving, and enjoying life!
He was so excited for his choral concert!
            I am continually reminded how every child is different and what they need to thrive with a chronic condition is not always what we expect.   For our family this has meant really seeking to understand Christopher, keeping him a part of the conversation around education and his activities, and being okay with evaluating and trying again.  For example, I thought that Skype would be a great way to keep Christopher a part of class routines this year during absences and help him transition back into the class on well days.  I knew this had helped other children!  Yet, after trying Skype a couple times at home while he was sick, he was very clear with me, “Mom, when I am at home I just want to be at home and when I am at school, at school.”  I had never imagined that Skype would be anything but positive for him!  Yet, as I think about Christopher’s personality, it makes perfect sense he didn’t want to use Skype.  He really enjoys being in the moment, and Skype can confuse that!  Also, although I worried about his transition from sick days at home to going back to school, he is an extrovert and this transition was exciting for him not anxiety producing!  So we have set aside Skype temporarily, but it’s a great tool to have and possibly use as he gets older! 
            Overall, it has been a good year!  I wouldn’t trade it.  There have been bumps and hiccups along the way, but we are all learning!  The teachers, administration, Christopher and our family are all trying to work together to understand what school will look like, and every year I am sure will look a little different.
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