Monday, December 14, 2009

Genetics Appointment

Last night Zak spent the night with Nana & Poppy since Ryder and I had to leave the house around 7am for his appointment at Johns Hopkins. We made it there without getting lost and right on time. I always know there will be a long wait when we go to any appointment there so I was not surprised that we didn't go into an exam room until closer to 9:45am or so, but once we were back there we were seen quickly.

First the genetic counselor came in and talked about any changes/concerns have occurred since our last appointment. She also went over the results of the tests they had requested after the last visit (MRI, hearing test, full body skeletal survey). Then she left the room to "update" Dr. Hamosh with everything. A few minutes later both came into the room and Dr.Hamosh started her full exam.

A few things that "concern" her included some of his facial features (lips, nose, eyes, teeth), sweet smell of his urine, delays not usually associated with Klinefelter's Syndrome and his recent regression in certain skills. She is also concerned about his lack of weight gain.

She had a group discussion with some of the other doctors in the office and they all came to the conclusion they he has something else going on other than the Klinefelter's Syndrome. They can't point their finger on it so they want to run more tests. These tests include:

- Blood work (We had done at the appointment)
- Urine Sample (Have to try and get this at home and take back)
- Hearing Test
- Vision Test
- Kidney Scan (Because of the smell of his urine & the hypospadias)
- EEG Test (To rule out seizures)
- Autism Testing at Kennedy Krieger Institute (There is a big link between genetic disorders and autism in addition to some of the "signs" he is showing)

I think that is all of them, but I might be forgetting something. I will be getting a phone call to schedule all of the tests. Dr. Hamosh wants to see Ryder back in 6 months, but if she gets results back that need to be discussed sooner she will call and set up an appointment.

Now we are playing the waiting game once again....