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?
grrrr!!!! I totally know what you are going through and it sucks!!! Reading your post sounds all too familiar. tons of waiting and then the results come with no clear answers. It is so frustrating! It just shouldn't be this hard! I am so sorry. Sounds like good news for the liver though and pretty postive for the PMD. So is he currently being tested for the other tests for PMD? I talked to Dr. Narayanan briefly after Annalise's tests yesterday, but he was kind of in a hurry. If it's all right, I am going to email him this info. I really think they should get you in to see him right away. I'll see what I can do. Hang in there!
ReplyDeleteI'm not sure of the next step yet Tammy. I struggled for a few months to get the funding for that single test and I'm not sure if the PMD foundation will pay for more testing. Everything is soooo expensive---as you know! It is good news about his liver, but still concerns the GI as to the reason behind the elevation--we just know it wont fail too soon and have some time--not very exciting to hear as a mom still! With all the news today, I saw a healthy 18mo old that was talking and running all over the place tonight. I really don't compare Ryder and am so grateful for my precious little guy---but I still have my sad days--and today is one of them...tomorrows a new day:)
ReplyDeleteNo, that is not very exciting to hear. Oh, it is so hard to see other kids their age. And sad days are totally understandable. I just emailed Dr. Narayanan. Hopefully we will hear from him soon. I really hope that he can get you in to see him sooner than the appointment that is scheduled. I really think he could help with getting some of that testing done and paid for. He has helped us more than once. Try and get some good sleep tonight. Hopefully tomorrow will be a happier day!
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