Last night I received an e-mail from the genetic counselor that works with Dr.Hamosh (Ryder's geneticist at Hopkins) with great news for us. Ryder's bloodwork came back normal for all of the metabolic things and he is negative for Rett Syndrome. But then she also said they have been unable to schedule his testing because the insurance is coming up saying inactive. So this morning I called and spoke with somebody at Hopkins to give them the correct insurance information. At the end of that phone call she said she would call me once all of the tests were scheduled to give me the dates and times. I am not a big fan of having no say in the dates or times, but I know we will work it all out. Well, I was shocked to get a call back from her already to give me the dates!
EEG Test: January 21 at 3:30pm (he has urology appointment at 11am)
Audiology: February 1 at 9:30am
Kidney Scan: February 1 at 11am
Opthamology: February 1 at 2pm
MRI: She will call back with that date once she gets the call to let her know when it is
Looks like those two days will be pretty busy for us. I am hoping Zak will be able to spend the day with Rich on January 21 because, as luck would have it, Ben is out of town January 20-22! And then on February 1 Zak is already supposed to be at daycare (Ryder would normally have his group therapy class) so that should work out fine. The MRI is a test that Ryder will have to be sedated for so that is probably my least favorite one they are scheduling, but I will definitely update everyone once I know that date.
We are still waiting to hear from Kennedy Krieger to schedule the testing that they want to do also. That testing includes ADOS (Autism testing), Neuro-Psychological (test how his brain responds during certain tasks), and screening for the Early Achievement program.
This morning Ryder's special educator came for a sessions. Today she spent the whole hour doing her 6 months re-evaluation with Ryder. She gave me some basic results from her testing which pretty much all show improvement in most areas which is great! He is 29 months old now and the testing showed....
Self-Help: 18 months
Social-Emotional: 20-24 months (She told me this is probably not accurate for him since he does well 1-on-1 and with adults but has "issues" with other children, so it is lower in "real-life" settings)
Gross Motor: 24 months
Fine Motor: 27 months
Cognitive: 20-24 months
She then explained that a result of 21 months or younger would be a 25% or more delay for him. With his speech delays, the ones listed above, and his Klinefelter's he still definitely qualifies for services (the genetic disorder will automatically qualify him). Even though some of the above results show this delay he has shown tremendous improvement from where we started! Yes, we have noted some regression with certain skills and hopefully we will find a reason with all of his testing but what we FOCUS on is the great improvements he is making!
Wednesday, January 13, 2010
Posted by April at 11:39 AM