Genetics...blah.

Several months ago, when Jordan started seeing his new psychiatrist/neurologist, Dr M ordered some blood work and a chromosomal test. The blood work came back mostly normal but the chromosome test came back showing a chromosomal anomaly that the lab could not identify. Dr M recommended further testing, because the cause of autism continues to be a mystery. Thankfully, the genetics department at Children's Hospital in Pittsburgh said they'd be glad to see him, despite the fact that he is 20 years old. Phew!

Last Thursday, we packed up the family and headed to his appointment. What we found out is still a mystery. They showed us that he has a break in the long arm of his 19th chromosome. What they can't tell us is how (if at all) it effects him. We spent about 90 minutes with our genetic counselor, Meron. I can't even tell you how nice she was...just awesome. After giving her the most detailed genetic history that I could (and telling her how defective our genes are!), we met with the geneticist. She did a very thorough physical exam on Jordan, noticed some anomalies, and ordered some more testing. We also spent about an hour with her and she, too was amazingly kind. I should add that lately we haven't had much success with doctors.  Most of the time I want to kick them in their naughty parts. Because Jordan has so many visual 'stims'and tics involving his head/eyes, she wants him to see their ophthalmologist. He/she can check the eye to see if there is anything mis-wired. And because of the history, she wants Brett to see a certain doctor in neuro-development, as she has a special interest in genetic disorders. And after that evaluation, she wants to see Brett in genetics, and more than likely ophthalmology as well.  They are currently checking for disorders on the X chromosome, as I'm the common factor between the boys. So, in about a month we should have the results...but they might not show anything.  We are not expecting any miracles, because we love Jordan regardless of what we find out. But if something shows up that is treatable and might make his life a tiny bit easier...sign us up. If, in the future, developments are made, we will be notified. And she wants to follow up with Jordan in 1-2 years, sooner if there are any changes. 

I can't express the kindness that was shown to our entire family. The doctors, the nurses...everyone. My only complaint is that they told us to park in Penn garage, which has 2 levels. Since our appointment was at 12:00, we circled that damn lot for at least 15 minutes until we got a parking spot!

I've been trying to process all of this information for 5 days, and questioning myself at the same time. Is this all worth it? What is it going to prove? It's certainly not going to change anything. But you know what? I don't care. My boys are the most amazing people I have ever met. They have made me who I am today. They have so many challenges that they have to deal with on a daily basis, and they never give up. They never back down. They never complain about how hard they have it. They are my heroes, and I wish I could be more like them.