Gained a lot of insight at the genetic specialists today. Dr. Alick was very personable and explained everything clearly--another GOOD doctor to add to Ryder's team!!!!
So here is what I learned today that finally makes sense to me. Ryder does have luekodystrophy. There are about 32 forms of luekodystrophy. The 3 most serious forms have been ruled out through lab testing. The only other possibly significant results from his labs are a slightly elevated liver enzyme. This could have been caused from him getting over being sick. We will run another test to check the liver enzyme. Dr. Alick also ordered a test (forget the exact name now) to lay out his genetic code so we can possibly pin point the problem. As of now it is NOT known if Ryder has any inborn errors (The neuro told me he did have several inborn errors that's why he referred me to Dr. Alick) A third test being run is to rule out 1 more form of luekodystrophy (PMD).
Luekodystrophy as I mentioned has 32 forms identified to date. It is a disorder that needs to be researched further. It is rare and not much is known about it. Dr. Alick said approximately 60% of patients with luekodystrophy get a diagnosis with the specific form. Knowing the exact form will only really give us an idea on how this disorder may play out in Ryder's life so to speak. With out a specific form, we will not have anything to compare really. I am okay with this!! At this point it may be better not to know exactly what form it is. This way I won't get on youtube and watch videos and cry about what he is faced with. There is no cure for any form of luekodystrophy yet. I am feeling more at peace with everything after this appointment. It is Ryder's journey and we are all going to go where ever it may bring us, while enjoying him every step of the way;)
Now we are going to have a fun and relaxing weekend before or 3 night hospital stay next week. Hope everyone has a great weekend as well!
