Tuesday, May 26, 2009

Visit with Dr. Michaels

The morning went very smoothly. Jake was happy to stay with Cindy for the first half-hour of our wait, which bought me a little bit more waiting room time with just Manny.

I told Dr. Michaels of my concerns and after he observed Manny I didn't even have to think about suggesting an MRI, he simply said that it should be done, and soon. We have an appointment at T.C. Thompsons in one week for an MRI which will be done under anesthesia.

I also talked with him about Phelan-Mcdermid syndrome (22q13 chromasome deletion) and to my surprise he felt that I very well could be right. Although he doesn't really know much about this "rare" disorder, he listened to my list of symptoms that fit both my own children, and Steve's relatives and thought that investigation into that diagnosis seemed valid. After I voiced my concerns over family history of kidney issues and Manny's own stomach pain issues (he often brings your hand to his belly for rubbing) he suggested that we also do an abdominal ultrasound while he is at T.C. Thompsons for his MRI. Although polycystic kidney disorder and other kidney issues can be asymptomatic and don't neccessarily cause pain, he thought that since kidney problems/missing or underdeveloped kidneys are also a symptom of Phelan-Mcdermid, it wouldn't hurt to check now.

We are getting an appointment to have Manny's hearing checked. Although I know that he can hear, I wonder sometimes if he can hear well. A hearing check can't hurt.

I think thats all..Oh, he wants both children to see a dentist since they both have never been. I'm putting that on the back-burner for the time being for obviously reasons.

I only returned home from the appointment a few minutes ago. I am not at all surprised at the outcome of this appointment, but I just need a little time to process it all. I am glad that we can get the MRI done in one week.