New diagnosis and all that fun stuff

There is so much information running through my head right now. Doctors, teachers, programs... who should I contact, who should I get involved, and what should I wait on. On Monday, my son Evan had an appointment at Children's Hospital to discuss the results of some blood tests that were done in June. I was all prepared to discuss the list I had for the doctor, which seemed to point to Autism, but instead I found out that they found a small peice of his 18th chromosome missing. It is called a chromosomal deletion, on thelower part of the q arm of the 18th chromosome called 18q-. I was confused, shocked, surprised.

We had heard about 18q-back when Evan was 6 months old. He had narrow (stenoic) ear channals, which prevent him from having normal hearing. The CT scan was looked at by the radiologist, who recommended that we look into the 18q- disorder. At the time and at the followup appointments, both the ENT doctor and the Genetics doctor thought that Evan looked too cute to have such a diagnosis. His head wasn't as small in proportion to his body as they would normally see with this disorder, and his stature wasn't short, so they overlooked the recommendation and all doctors, therapists and teachers up until this point have just focused on the hearing loss and made me think that I was going crazy because on one else saw the behaviors that I was seeing.

I guess I should feel validated, because now I finally know that I was right and that there was more than just a hearing loss. It's a bit scary, so I'm not quite sure how to feel. So, I'm just trying to keep busy and trying to take it day by day.

We did more blood tests on Monday and hope to get the results in March. These results should tell us what extent this disorder will affect Evan, and what we should be able to expect in the future. There are certain health issues associated with a deletion of the 18th chromosome, so hopefully this test will tell us which ones we will need to look for in Evan and what we will be able to expect in regards to his cognitive abilities.

Here's some info on 18q-.
http://www.chromosome18.org/Genetics/18q-.aspx

Evan just woke up, so I'll have to stop here and add more info later.