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.



Thursday, June 26, 2014

Love, Obsession, or Passion?


     It all started last year around this time.  Christopher picked up a helmet, headed toward the tee, choked up on his bat and swung.  The seriousness that runs across Christopher’s face when he plays baseball started then and has carried over until this year.  He often doesn’t crack a smile until he has run across home plate.  Don’t let his tone fool you though, he is having fun the entire time…he is just focused…very focused!
            Last year’s t-ball experience sparked something in Christopher that I would have never imagined, a deep passion (and at times I think obsession) with baseball.  During his first t-ball year he wore his baseball uniform sometimes 4 days a week just because he liked to imagine himself on the field.  He wanted and still wants to practice every day.  If we can’t go outside, no problem!  Christopher grabs a tennis ball and becomes the announcer, batter, and fielder all at once…in our hallway!  It is the most hilarious thing to watch!   He calls “Freddie Freeman” up to bat, throws the ball (pretends it is a line drive) slides to catch it and then determines whether Freeman is out or safe.
            Christopher’s passion and intense practicing led him to play on two teams this year!  He started off playing t-ball with the 4-6 year olds, but it was clear to the 7-8 year old coach that he was ready to play with the bigger kids and be a bit challenged.  So the coach offered to let Christopher practice with the older kids, and then half way through the season invited Christopher to start playing games.  My husband and I were a little worried about 3 practices a week and two games on Saturday; is it too much?  But Christopher really wanted this…and we didn’t want to kill his passion for the game!
            Did I mention that Christopher has LCHADD?  Honestly, Christopher playing baseball, and this intensely, has been a surprise to us both!  When Christopher was first diagnosed with LCHADD we wondered about sports, and whether this would even be possible.  My husband and I are both athletic, but we had heard enough stories of kids with LCHADD struggling to keep up with sports that we really were not sure.  Then when we signed Christopher up for T-ball we thought, “This might be perfect.  He will get breaks during the dug out to fuel up and in the outfield he won’t be running all the time like he would in other sports.”  So far so good.  The first year of t-ball we had Christopher’s CKs checked after two practices and a game and everything was normal.  This year we have kept him fueled up and he has done really well!
            What does baseball look like for this kiddo?  A lot of “fueling up”!  Typically 30 mins before a practice or game Christopher eats a meal with a tsp of MCT oil over his food.  Then right before practice he drinks about 4-6oz of Lipistart mixed with 1 Tbs. cornstarch.  During the actual event he drinks a combination of Gatorade and coconut water every 15mins to assure hydration.  (Dehydration can send a child with LCHADD into rhabdomyolysis just as quickly as lack of food.) When he plays with the older boys I try to throw in an extra snack with MCT oil during game days.  Shortly after a game or practice we are now trying to add in more protein with Greek Yogurt to help the muscles re-build.  Outside of keeping him “fueled-up” there is a lot of cheering, encouraging and explaining the game!   He loves it!  Some of the kids ask a little about his extra snacks but he seems to take it in stride.
          Do I worry?  YES!  If he had a fuel light on his body like our car, that would be helpful!  It is hard to know if we are giving him enough, keeping him hydrated enough…and if we are monitoring him close enough without suffocating him.  Christopher is learning more and more to listen to what his body needs, which is great!  But he is still just a normal little boy who is focused on the game more than anything!  And this is how I want it to be…so all the worry and fear that I carry I try not to show to him.  I wish that I could just sit and watch the game and not be distracted by my worry, but I feel so grateful that he has this opportunity to play!  I am very aware that not all LCHADDers get this chance.  I don’t know why and it makes me very sad…but we are so happy and proud of our little guy!  He has got an amazing swing!


1 comment:

  1. The little guy sure looks focused! Christopher must be very glad that you've allowed him to pursue his passion at such a young age, even with LCHADD. You even made adjustments so that he could enjoy the sport without worrying much. Baseball does look like a good sport for him, as he could get some breathers during downtimes. Good luck to Christopher!

    Linnie Dimmitt @ Uniforms Express

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