Thursday, October 17, 2013

Opthalmology and Genetics

Leah had two pre-op appointments today at CHOP. Since we are driving quite a distance to the hospital, they have been very understanding about bunching appointments together for us. We arrived at the hospital at 12:30 and went right to opthalmology. This appointment was the most important of the day because kids with coronal craniosynostosis often have related eye issues, either because of the  facial asymetry that it causes or because of increased pressure on the optic nerve. The doctor spent just few minutes checking the focus of her pupils (he used his iPhone to play a video through a PBS app to keep her attention) then dilated her pupils to check her optic nerve. Leah didn't really love the process, but the doctor said at this point everything looks fine, and he sent us on our way with directions to come back six weeks after the surgery to check her pressure.

We then went to the Plastic Surgery department, where we usually go to see Dr. Taylor. Leah discovered a Geronimo Stilton book in the waiting room that struck her fancy:

This appointment was quick as well, and the geneticist asked us several questions about our family history. Since no one in either of our families has had craniosynostosis, or any related craniofacial, hand or foot abnormalities, she also said that everything looks fine. She explained to us the causes of craniosynostosis, but we already have a more advanced understanding of the defect than she provided so that wasn't terribly helpful. I noticed she spent a lot of time looking at Leah's hands, and since Leah does have notably long fingers, that made me nervous. But at the end, she said she didn't see anything for concern. Since we will have blood drawn at Leah's pre-op appointment with anesthesiology tomorrow, she ordered specific genetic screening of the fourth and seventh chromosome on her blood just to make sure Leah doesn't have any cranio-related abnormalities. The results will take about a month to get to us, but we anticipate that they will show that everything is normal, which is very good news.

1 comment:

  1. Julie and David:

    Thank you for sharing this with us.

    Bruce

    ReplyDelete