Thursday, May 15, 2008

Another Day, Another Neuro Consult

Yesterday was our 4th trip to Sick Kids in Toronto in as many months, this time to meet with our 3rd neurologist, Dr. M. Dr. M is a specialist in Angelman, more specifically the seizures associated with Angelman. He is also heavily involved in genetic research, apparently he spends less than 20% of his time in a clinical setting with patients, the rest of the time he is conducting research studies.

When we first arrived the place was packed and the receptionist asked me"did you not get a call advising this appointment had been cancelled?" I felt like saying "of course we did, we just felt like taking a 1.5 hour drive to downtown Toronto to hang out in your overly crowded waiting room" but I managed to control myself. So despite this appointment being cancelled they squeezed us in with Dr. M., who was immediately confused by our situation. his immediate reaction after looking at the lab report we brought with us was that Joey had a deletion in the UBE3A gene, and therefore has Angelman. We explained what we could about all of the confusion we've experienced in the past few months and he immediately got on the phone and called Dr. V. directly for clarification. After speaking with her he started to get a better idea, but stillwasn't convinced so he went to this amazing website, , to look up the UBE3A gene and find exactly where the breakpoint was in the gene. It was quite an amazing thing to watch, and his explanations have been the most clear we've received to date.

Basically, he reiterated what we already know, that it's still unlear what the significance of this deletion is. He wants to wait to get my parents test results back, and if they say anything other than my Mother also has this deletion he would like to meet again. He says that current tests wouldn't be able to further define the significance of the deletion in this case, but that he could hook us up with a research study somewhere that would be interested in looking into it further.

The one thing we forgot to get was the results from Joey's Evoked Potentials and EMG tests 2 weeks ago, so I'll be calling back today for those. I imagine they're normal, or else someone would have contacted us sooner.

Apparently Dr. V. told Dr. M. that she was going to call the lab yesterday and find out where they're at with my parent's tests and she will follow up with us.

So more waiting, as usual. The good thing is that as of right now we do not have any further trips to North York General or Sick Kids scheduled...YAY!

P, J & J

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