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, April 18, 2012

What I hope for Christopher...

When Christopher was first diagnosed with LCHADD I was still quite sick. Those first three months of his life there was not much room in my daily existence to have any emotions about his disorder. Rather, my focus and concentration centered around my physical healing so I could help Ryan care for our son. I recall the first night I was well enough to feel anything about Christopher having LCHADD; it hit me hard all at once. He was a little over three months old and we were listening to Andrea Bocelli (a beautiful blind opera singer) and I started to ball. I was angry...angry that he had a metabolic disorder and angry that there was so little known about long-term care/ life expectancy. I was sad that my innocent son had no choice in the matter...that he would have to be a fighter at such a young age...that there was a high propensity that he would lose his sight. Then there was the guilt. LCHAD Deficiency isn't random...(gulp) a part of me gave this to my son (sob). And so started my grief process, and acceptance of having a child with a chronic health condition. I knew, deeply, that we would be fighting this battle together...all three of us...Ryan, Christopher and I.

As Christopher grows, I find myself thankful (as I pull my hair out) when Christopher experiences those challenges that any two or three year old experiences. I find that it is this odd balance of trying to be in the moment with him as much as possible, educate myself about his condition and studies, and process the unknown that accompanies his condition. I find that I carry so many emotions with me, and although I can force some into dormancy for awhile... illness, muscle breakdown and doctor visits can bring these emotions back to the surface. I realize that for all kids there is a certain level of unknown and that life is fragile for everyone to a certain degree. Yet, I think this reality is a little easier to push out of our minds, when a child doesn't have a chronic condition. It is the reality of our own mortality that sits too close to home these days...and yet we can't give up hope...we won't!

I think about these things while I am training or while Christopher and I are out hiking. And at the end of these thoughts I always come back to, "What do you hope for, for Christopher?" And I suppose there are a lot of things I hope for that any parent would hope for, for their kid...but somehow it feels a little different. I hope that Christopher will not lose his laugh and excitement for life. I hope that he will see the world differently and challenge people's ideals or notions of how things are "suppose" to work. I hope that he will love who God has created him to be and that he will embrace the beauty of all that surrounds him. I hope that he will continue his excitement to expand his mind, and explore his environment. I want him to be comfortable in his own skin. I want him to love nature and creation. I want him to be able to do what excites him (I worry about this at times because he is so athletic...loves basketball already...I hope that he will have the stamina to play sports if he wants to...the LCHADD could effect this.). I hope that he will embrace his LCHADD, his special diet, and seek to be an advocate and example to his peers. I hope that more doctors will desire to work in the field of metabolic conditions and that my son will have continued health care as he grows.

People have asked me if I think that LCHADD will be cured. I suppose that I am not really sure how the science around that would work, because LCHADD is a genetic condition that occurs on a cellular level throughout the body. I know that research is the beginning and that there is so much hope for children with LCHADD, that they can have full lives, the more that scientists learn about the mitochondria and how fatty oxidation works. I hope that research will change the progression of the vision loss that these kids experience. I hope these kid's diet will be so effective that they will be able to participate in life in a way that they choose. I hope that doctors and clinicians who have never heard about LCHADD will hear about it, and so when a child is sick and in the hospital, treatment will be easier for families, patients, and clinicians.

And so I suppose we hold a lot of hope in our family. Our hope comes from each other, God and friends like you who love and support our journey. And so we hope on...
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