How does it go, "The good Lord giveth and the good Lord taketh away." Well, I guess in our case, the good ole government giveth and the good ole government taketh away. Or more appropriately, the FDA giveth and taketh. What the heck am I talking about? Well, we got a call from our doctor at Stanford (we'll call him Dr. A) last week and he informed us that because we didn't have an official "genetic" diagnosis for Piper, the FDA is not going to allow her to participate in the drug study. Needless to say, we were not happy with this news. Now I'm going to get into some of the scientific mumbo-jumbo to explain this more in detail, so if science gives you tired head, then all you need to take away from this, before you skip to the next paragraph, is that the FDA is a bunch of lazy assed, incompetent, pencil pushers who are more interested in collecting their union pension than doing their job and probably can't find their F'ing DA from a hole in the ground.
Now, what do they mean by an official "genetic" diagnosis? So Leigh's syndrome is a mitochondrial disease caused by a genetic defect. The mitochondria are part of the cells of your body and convert the energy of the food we eat into ATP, which is what powers your brain, muscles, etc. Since this is a genetic disorder, they should be able to identify which specific gene is defective and causing Piper's issues. However at this point they have not be able to identify her specific gene abnormality. Also, they estimate that there are probably two dozen different genes that can cause these disorders, but they have only specifically identified about half of those. So even though both of our specialists, including several other neurologists, after examining Piper, her MRI's, blood tests, etc. have confirmed that she has Leigh's, the FDA in its infinite wisdom won't let her into the study without the positive genetic test. Here endith the (science) lesson.
While this is definitely a set back, all is not lost. When Piper was having her G-Tube inserted, the surgeons also took a muscle biopsy that has since been sent to Columbia for genetic testing. If they are able to identify the specific gene that is causing the disease, then we should be able to get back into the study. Also, Dr. A is just starting up a gene sequencing study that will analyze over 500 different human genes, and he has asked us along with Piper, to participate (which we have accepted.) The hope here is that as they analyze all 500+ genes, they will find a mutation or abnormality with one of Piper's genes. With that "proof" our doctor hopes he can use that to convince the FDA to allow Piper to participate. Now personally I think that most of this issue is due to the fact that Piper is a female, because we all know that it's impossible to find genes for a woman (rimshot!).
All joking aside, I really want to thank the tireless efforts of Dr. A as he has fought, wrangled, bartered and begged to try to get Piper in, and he hasn't given up. We greatly appreciate his, and everyone's dedication, drive, prayers and support as we go through this journey.
So, in summary, "Dear FDA. Go **** yourself. Sincerely, me."