The genetic results are finally in, but unfortunately they are not what we were hoping for. We received a call after business hours on Wednesday evening from the head of genetic and prenatal diagnosis to give us the news. He had just received the results (by Blackberry!) from the Yale lab. It's an OTC affected boy. AGAIN. Crap.
The doctor who called wasn't even in Toronto when he called... he was in Ottawa at a conference for a few days. He asked if he could share the news with the other doctors and counsellors that we deal with, and we said yes.
We had appointments already booked for the next day (Thursday). I had my 20 week ultrasound, and an appointment with my internist and OB. All the appointments went late due to the genetic results.
The hospital had just done a teaching case about our situation that morning to the residents and doctors, so many of the people I saw that day said "We just had a teaching about OTC today." I said that I knew (it had been planned for a few weeks), and that it was because of me, the only OTC (ornithine transcarbamylase deficiency) case they have. Of course, when it was planned, the results were not in yet, and my OB had just received the results that morning (via his Blackberry!), which resulted in more teaching regarding the affected baby and choices we would make.
Our doctors at Mount Sinai are fabulous, and make it clear that all final decisions regarding care/treatment etc. are up to us. They respect the fact that we are well versed in our diagnosis, and have respect for our decisions.
So, in the meantime we now have appointments booked with Toronto Sick Kids metabolic genetics department to go over progresses in any potential treatment options since the last time we went through this 8 years ago.
I also have an appointment with Sick Kids tomorrow for a fetal echo cardiogram, because just in case we didn't have enough to deal with, they found a slight potential problem with the heart during our biophysical ultrasound last week. Even though OB thinks it is probably fine, we are being treated with white gloves and he is sending us for this specialized ultrasound now. If ONLY the heart issue was the only thing we had to deal with instead of the OTC!