Thursday, December 18, 2008
Yesterday, I received a call from the metabolism group at CHOP in regards to a meeting that they had about Lucy. Once a week the metabolism group has a meeting with all specialists who are involved in diagnosing, testing, and treating metabolic disorders. Lucy was on their agenda. We apparently need to "feel good" that they discussed Lucy's situation, because now we have so many more metabolic experts thinking about what needs to be done for her. On the one hand we do feel good about this and on the other hand not so good. It is concerning that even the experts are unsure of what to do next. We learned that there are several researchers at CHOP who are doing a research study on SCHADD, trying to isolate the gene for SCHADD. Apparently, there is no lab in our country that has this capability. There is a lab in the UK that has this capability, but we need to apply for special permission to have her blood tested in another country. This is not easy because of some law in the USA that states that basically the UK lab needs to agree to test Lucy's blood for research purposes, aka for free. We understand, now more than ever, that confirming this diagnosis needs to be done. If it is not SCHADD than we could be missing something by assuming that it is, and this something else could affect her for the rest of her life in ways we don't know yet. Whenever Drew and I weigh the pros and cons of doing another test or procedure, the former sentence rings loudly in our ears! Next Tuesday we will return to CHOP for another appointment with the metabolic doctors. We will have labs drawn for the above mentioned research study as well as for several other tests that might help point us in the right direction. Everyone involved in her care is being cautious about the amount of blood taken from Lucy as she is so very small. We are waiting for her to grow some more before we can have any more procedures done. This is the plan for now, we'll keep you posted.