Wednesday, January 20, 2010

Neurogeneticist App't

What an appointment, what an appointment, what an appointment...

So was prepared for a routine appointment. Check vitals, look her over, listen to her cry, talk, ask questions, go home. Therefore I had my stash of lollipops, fruit snacks, I Pod and coloring book. I had no idea what I was in for.

It took 45 minutes for them to even call us, which is long for CHOP. Once in we started the visit with the genetic counseling fellow. You have to understand that when they are assessing for genetics the questions are immense. There is so much to genetics that you discuss everything from your family tree to how Abby pees. It takes forever. Abby was okay for the first hour or so, a little whiney but not too bad. Halfway through the "interview" Abby loses her balance, falls out of her chair, head first onto the hard floor... Hysteria ensued for 10 minutes. Big egg on her head and lots of tears but I got her settled.

After the questions were answered and I had a chance to lay out my concerns and issues we waited. I assumed we waited for the doctor. Instead in came a PT. I know they are trying to help but sitting their talking about what might help her with PT when we are in PT and have been for over two and a half years seems unnecessary to say the least. But I tried to be patient. For 45 minutes this man asked her to do PTish things as she screamed in agony. It was awful. I wanted to scream at him to leave us alone. He finally did, although not from me yelling.

So again, we waited. She whined, she cried, it was nearing dinner. In comes a young woman who I knew had to be an OT. Another 45 minutes of crying. Not just a little crying but nose running, red faced, gagging crying. I felt like we were being tortured. More waiting.

FINALLY in comes the doctor, the genetic counselor and the genetic counseling fellow. Abby lost it. Crying, gagging, hysteria all over again. So this part of the appointment took well over an hour with all the questions, assessing and looking her over. At one point the doc was watching her walk and sit and stand. He and Abby were sitting at a little table and she fell (AGAIN... omg, have I said torture) on her head. I wanted to scoop her up, run away, and never come back. But we persisted.

We got to the end of the appointment and I am thinking, ok, now we can just go home. Right? Wrong. No, we had to have her blood labs done at the hospital because she needed a specific genetic test that she could only have done there.

So by the time we got home an appointment that should take us about two and a half to three hours round trip took almost 7. She was so exhausted I thought she would sleep in the car but she didn't. She really was a little trooper despite the crying, falling, blood draw, etc.

Ok, I have to go work but I'll post tomorrow about what we found out.

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