Thursday, December 11, 2008

What is it?

Today we had our "big" appointment with the CHOP endocrinologist who specializes in metabolic diseases. I would just like to state for the record that his big ego was no where to be found. He was very professional with an appropriate level of compassion for what Lucy, Drew, and I have been through recently. He too was not sent any of Lucy's information prior to our coming, despite our metabolic doctor telling us that she would send him Lucy's file. Fear not, today I was armed with pages and pages of documentation! After explaining why we were sent to him, it did not take long for him to see that Lucy is struggling to grow. He told us that her growth chart was "the worst he has seen!" Yikes, that was not what we wanted hear, despite the fact that we know it is not great. After looking at Lucy's chart and listening to us describe what we have experienced with her, he did not feel that she has an obvious endocrin issue. The word obvious has been used as an adjective a lot recently. We know that what Lucy has is not obvious or it would have been diagnosed by now! He felt that looking at Lucy's hormone levels could rule out all growth hormone issues if results were normal. He agreed that Lucy needs to be seen for further evaluation. This is where things get confusing to us as parents. How much further do we need to go? Lucy has some labs that are showing evidence of a metabolic disease know as short-chain 3 hydroxyacyl-CoA dehydrogenase deficiency(SCHADD). This is an extremely rare disorder in which the body is unable to break down fats for energy. This disorder is classified as an inborn error of metabolism, meaning genetic, in a category of metabolic diseases know as fatty acid oxidation disorders (FODS). Symptoms for these types of disorders include failure to thrive, extreme sleepiness(lethargy), behavior changes, irritable mood, poor appetite, poor feeders, low blood sugar(hypoglycemia), poor muscle tone(hypotonia), seizures, and developmental delays. Unfortunately, there is not one test that can confirm this diagnosis. In order to come to a diagnosis we need to pursue further testing. We were given this huge piece of the puzzle about a month ago when Lucy was admitted for complications due to fasting. Fasting is detrimental to people with FODS because it can result in metabolic crisis. This may be what Lucy experienced when she was admitted on multiple occasions to the hospital. Symptoms for this disease vary from person to person as it is an autosomal recessive disease, which means both Drew and I are carriers of the gene for SCHADD, that affects the mitochondria. Mitochondria are responsible for creating a majority of the energy needed for the body to sustain life and support growth. Each persons DNA is different and the mitochondria in every person react differently as a result of your individual DNA. Mitochondria are responsible for creating a majority of the energy needed for the body to sustain life and support growth. I need to warn you that any information that is available about this disease is very minimal as this is so rare! We have been told that there is no cure for this disease but with proper medical care and dietary treatments it can be managed. However, Lucy's metabolic doctor is concerned that Lucy's extreme growth issues and cognitive development do not fit the profile of a person with SCHADD. The endocrinologist told us that there is very little published data on this disorder as it has only been discovered in the last ten to twenty years; therefore, it is difficult to say worst and best case scenarios. Lucy could be making strides for new symptoms related to this disease. Leave it to one of our children to have something so rare. OK, so now you know what we know! Drew and I are relieved that we have some direction, at the same time we can't be sure that this is the right direction! Oh, if you could only hear my sigh... We are continuing to follow up with many of Lucy's specialists to treat her symptoms and rule out any further diagnosis. I am emotionally drained tonight writing this summary as it has been a roller coaster of a month, fall, year... I'm sure many of you will have questions, I know we do and we have been researching this for a while. E-mail us with you thoughts and questions as it may help us. Thank you for all your thoughts and prayers as we continue on with life!

1 comment:

Anonymous said...

Wow, I got my science lesson today. I am glad you feel some relief--even if it is short lived. Hang in there we're all still hoping and thinking the best for Lucy and all of you.
Carey