Results are in:
1. white blood counts look good
2. liver enzymes still elevated, but haven't changed in a few months so we will wait on a liver biopsy (great news for me!)
3. The 1 gene they tested is normal, so it might not be PMD. It was explained to me that 75% of children with PMD ( just 1 form of leukodystrophy) get a diagnosis with this 1 gene test that Ryder had (looking for deletions), 20% are diagnosised after testing the same gene for mutations and 5% (for duplications I believe). So the 1 test for deletions came back normal.....
So good news, bad news and no new news all rolled up in one I guess!
I'm still concerned about all of the pieces to Ryder's health mystery....
nystagmus
hypotonic
abnormal white brain matter
ataxia
tremor (mainly hands & arms)
elevated liver enzymes (doctors aren't sure if his liver or muscle tissues are causing this)
enlarged lymph node (since birth/remains unchanged..but white blood counts are good)
developmental delays- no speech, can't stand independently or walk, unbalanced and still can't look at, point to/find Mommy and Daddy.
Ryder is 17months old. Most of the time he is a happy boy and has developed an attitude w/ giving dirty looks an all to get his point across!
I guess I need to process all this info for a few days to decide the next steps and talk with the doctors about what they think. Any suggestions from anyone?
