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.



Tuesday, April 17, 2012

How do you train with a three year old?

Well, I must admit training with an active three year old little boy is quite the adventure! It has forced us to get creative with our training! We try to work out about five days a week. Sometimes this is done together, and sometimes we have to sneak it in around each other's schedules. As you know, Christopher got quite sick in the beginning part of our training and so this added an extra obstacle. Ryan and I tried to take turns going on runs while he was sick and recovering. Then as Christopher started getting better Ry would push Christopher in the jogging stroller while we all ran together as a family.

Although Christopher doesn't mind the jogging stroller for short distances, he got really excited when we go a bike trailer off of Craig's list! This has helped us tremendously! The middle of February was when we first started using it, and it couldn't have been better for a child who was recovering from metabolic crisis. Christopher was strapped down (so he had to take a load off and not use energy) and we were able to get him some fresh air without exposing him to other children who might have been sick. Christopher loves the trailer, the wind in his face...and books that he brings along for the ride. He can last about eight miles before he is done and ready to get out and play or ride his own bike. After every bike ride Christopher pops out of the trailer and heads straight for his tricycle. "My turn!" he seems to be saying.

Other than family bike and run times, Ry and I go to the YWCA and they have childcare so we can swim, weight lift, and/or run. Oh, and there is our wonderful friend Catherine who has come over two Saturdays so Ryan and I can do a long bike and a run. (Our last long bike and run was two weeks ago. We biked 16 miles and ran 3miles...and I didn't even sprain my ankle this time!)

Christopher is starting to understand more now why we are training. Yesterday, he looked up at me as we were getting out of the car and said, "You have to run to help Dr. Singh...she helps me?!" And Christopher, I think, considers himself training as well. This past weekend he ran up and down our hallway several times then looked at me and said, "I ran four miles mommy!" But my favorite moments are when we all sit on the floor together and stretch. Christopher is by far the most flexible!On a fund raising note, we are up to $8,000! Thanks so much for everyone's support! It has truly encouraged Ryan and I to see how many people have given joyfully from their heart! We will be thinking of you all come race day, and know that you are making a difference by supporting research of FOD's. (Maybe I sound a little cheesy...but know that I am sincere.) If you would like to support FOD research and have any questions please do not hesitate to contact me! Or if you just have any question about Fatty Oxidation Disorders contact me as well!
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