Where we are today…
9/17 (Friday)
Ryder is in the process of being scheduled for an EEG (testing seizures). Dr. Jones (Ped) let me know it will take 4-5 business days for insurance to approve an EEG. Hopefully by the end of this week we can get one done.
Neuro's nurse called me back on Friday. I told her my concerns about the blank gazes I am noticing in Ryder. I also spoke with her about the mistakes that I noticed in the labs from the records I requested. She sweetly told me she wanted to schedule an EEG for Ryder. I told her the Ped was already taking care of that. She told me the lab results shouldn’t have made a difference since he was fasting even if it was marked that he wasn’t. She also told me that all the blood/urine results were in and everything looked normal. I was happy with the news, although annoyed that I hadn’t been informed that all the test came in. After reviewing the records I requested, I saw abnormalities in the result (so I thought) but I am not a doctor and must have misunderstood what I was reading. The results were at neuro’s office on 9/9/10.
9/20/10—Today
I got a call from neuro's at 1:24p.m. He informed me that all the first batch of blood/urine work have come in (excluding the most current blood work from the hospital) Results showing there are many inborn errors resulting. There is no pattern to the abnormalities found. He wants Ryder to see a metabolism specialist named Kirk Alick to further help analyze these results. Neuro also ordered another lab test-urinase acyl glycines. I spoke to neuro about my frustrations with miscommunications and waiting for critical results. After words of understanding, he is thinking Ryder may have Leukoenchepophy—a slower prognosis. I was a little relieved after reading about this (even though it still sucks!!!) It still doesn’t seem to fit Ryder—in my opinion, but I’m trying not to jump to any conclusions.
I spoke with neuro about a doctor that I have researeached and would like Ryder to see. He said this doctor was on the team that meet at Barrows and reviewed his charts. He said he was the best in AZ, but he will do the same as “we” meaning “he” is doing now and wait for a 3 month MRI to compare and determine regression. I already have a call into Barrows to get an appointment with this Doctor to review Ryder’s case.
I also am in the process of scheduling an appointment with Kirk Alick- Metabolism Specialist from neuro's referral. That in itself was hard to get since this doctor isn’t seeing new patients—but I did it
I went to Sonora lab and requested the bags and container to take his next urine sample/lab. I also got the previous mistakes on labs taken care of (so they say).
I have been looking on You-tube about Krabbe, Leukodystrophy, leukoenchepoly and all the other words thrown at us. As my mother-in-law stated—technology is both good and bad. I am trying to use this knowledge from the internet as a guide, but keeping aware that they are not Ryder—Ryder has his own journey! I was very touched by a little boy named Judson who had Krabbe’s disease. Watching his videos, I saw a lot of similarities with Ryder. While Ryder doesn’t have a diagnosis yet, I was touched by this little boy’s story. I have written to his parents and am praying that Judson will be Ryder’s guardian angel—no matter his diagnosis.
Appointments coming up: physical therapy, speech consult for oral motor, play dates with Amy/Renee?!!! EEG soon…..
For me (Denise) my friend let me borrow a CD-THETA Meditation System and gave me Tazo “calm” tea to help me relax. I have had two nights of great sleep---YAY
