Tuesday, April 5, 2011

Genetics Update

Yesterday Ryder had a follow-up appointment with his Genecticist, Dr.Hamosh, at Johns Hopkins. We discussed his progress over the last 11 months along with all of his new health things and other concerns.

Then we discussed the information on the amended lab report. In addition to his extra 'X' chromosome (Klinefelter Syndrome) he also has a specific partial deletion which is known as 15q11.2 BP1-BP2. This deletion has been associated with things such as speech and motor delays, behavior issues, dysmorphic features, sleep issues, seizures, and Autism. The geneticist then went on to say they want to test Ben, myself, and Zak to see if any of us have this exact deletion as well. Apparently, if it runs in families than it can be considered a "normal variation" and be benign. Ryder has most of the things that are associated with this specific deletion, but if we find it runs in our family then the geneticist said she will continue to looking for other possible answers. She is 99% sure that Ryder has more going on than just the Klinefelter Syndrome.

During her physical exam of Ryder she talked about Ryder's hypospadias. He did have the surgery to correct the hypospadias and chordee, but she feels the hypospadias is not fully fixed. About a year ago we took Ryder for a second opinion to a Pediatric Urologist at Hopkins. He took a look and said he could see room for improvement, but would wait until potty training happened. If Ryder had no issues then he would suggest to leave it alone. Now that Ryder is starting to pee on the potty we are noticing some issues such as he pees behind him when sitting down so that is not a horrible thing, but not correct. And he is unable to stand up and pee because his micro-penis (that is a medical term) and the hypospadias combined make it impossible to aim and get into the toilet. So today I called and got Ryder an appointment with the Pediatric Urologist at Hopkins on April 13 to discuss the matter again. As much as I would like to avoid another surgery for Ryder, I just think he would benefit from it. I will update once I know anything else.

Onto a different topic...today I took the boys to the pediatrician and they both have pink eye. They will need eye drops in each eye 3 times a day for 7 days. When we got home I gave it a try on my own and was completely surprised by how well Zak did. On the other hand, I was absolutely not surprised by how horrible Ryder did. I am not sure I even got any in his eyes! I was told they would not be contagious once the gunk is gone and that generally takes 24 hours or so after starting the eye drops. So Ryder will definitely be staying home from school again tomorrow.