Yesterday after returning from a Fall break vacation in Florida we got news that her gene test came back from Emory, and it was determined that there is a 99% chance that she has a genetic disorder called late-infantile neuronal ceroid lipofuscinosis:
Late infantile NCL (LINCL, or Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12.
This has been devastating for our family. My brother and his wife are still in absolute shock, so much so that I worry about their state of being. They have a perfectly healthy 7 year old boy to take care of but I just don't know how he can go to work every day and take care of the family while knowing any given day could be his last day with his daughter.
There is no cure, there is no treatment. Pain and suffering is a certainty. They're simply told that their daughter's situation will get worse over the next few years and probably go blind by the time she is 6. She isn't expected to live past the age of 12.
I can't imagine going through something like this. This is a horrible, and extremely rare, genetic disorder which most of us never hear about.
I no longer consider myself a religious person, but given the situation I couldn't help but wonder what value religion could have in times like these.