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.



Wednesday, January 29, 2014

Snow Day!


            Some of the fondest memories I have as a child are in the snow.  There is just something magical when everything around you turns white and the sun comes out and the brilliance of snow crystals are all around you…But lets be serious, as a kid the beauty of snow probably comes into third place after sledding/skiing and being off school!  Kids have to have their priorities right!  I know that snow activities can be dangerous, but as a kid and perhaps even as an adult many of the typical worries drift far from my mind.
Christopher's first snowman!  Age 4
            Last winter was Christopher’s first experience with sledding, and perhaps when I gave up attending to my blog.  Like any four year old he loved it!  It was close to New Year’s, we were in Pennsylvania visiting family, and the snow just poured from the sky.  His grandparents took him out in the morning for his first sledding expedition and Ryan and I were able to catch the end of it!  If you yourself are reminiscing about your own snow experiences, perhaps you remember how tired you were when you got back home. During activity, Ryan and I can’t help but obsess a little about Christopher’s calorie intake and this adventure was no different.  He “fueled” up before and after snow activity, took a nap and after nap time wanted to go out again.  We fueled him up again before making a snowman and sledding one more time.  Two excursions that day, one hour each, led to 5 days in the hospital with CKs reaching 70,000.
           For the next four months I searched for an answer to, “why?”  I knew that the basic explanation was that he used more calories than he consumed and therefore his body attempted to use fat for energy, leading to muscle breakdown. Yet in general, Christopher is an active child who will hike a 3 mile trail in the summer, loves to play baseball, and runs around every time we visit the playground.  We are always working to keep his calorie intake up, what made this event so different?
        I began searching medical journal articles trying to understand the effect that cold has on the metabolism and came across new research on “brown fat”.  I spent the next 5 months reading, talking, questioning and wondering if brown fat and its use of long chain fatty acids might play a role in all of this.  I spoke with some amazing people, researchers and clinicians in the process.  There are not definitive answers, but there are some things we know that are certain: Brown fat is activated when body temperature drops in order to help keep the body warm; More people than just infants access brown fat; When brown fat is activated it uses large amounts of glucose at one time.  All of these things, in addition to our experience, makes me feel that there is a strong probability that the cold is harder on our little guy’s body than the average kiddo.
Christopher had a marvelous sledding time today!
            Fast forward to today.  What do you do with a five year old little boy who is excited to go out in the snow and be a kid, when you don’t know for sure if you will repeat last year's experience?  (The truth is that although cold probably played a huge part in is hospitalization, there is no way to know if it was the only factor.)  Do you keep him inside and play it safe?  Do you take him outside with precautions?  We decided the later.  Plenty of “fuel”, extra MCT oil, more Lipistart, Gatorade, lollypops (for instant glucose), protein to rebuild muscles just in case…and monitor very closely.  I want Christopher to try and have these experiences.  It is a lot at times.  He gets frustrated with “breaks”, I look like a crazy parent forcing my kid to drink Gatorade every 15mins…and I worry.  I don’t want him back in the hospital and I know if we are not careful there is a possibility of this…a big possibility.   I struggle with the art of monitoring/worry and holding joy of the moment.  I am striving to worry less, monitor more…and just smile as he rides down the hill and gives me two thumbs up.  Laugh as he socks me in the face with more snow…and embracing him extra closely as we both have the excitement of experiencing the snow together.  I won’t lie, I wish at times I could just experience the moment without having all that other crap on my mind, but I am grateful for the moment.  And today he enjoyed the snow and is doing just fine.
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1 comment:

  1. UnknownJanuary 29, 2014 at 7:02 PM

    I'm so glad you are able to let him be a kid...it is such a hard thing to do sometimes when we know what the risks are!

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