Tuesday, June 28, 2011

Not What We Were Hoping For

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!

4 comments:

  1. I'm sorry. I'm sorry you have to travel down this road again. I hope you can find sunshine through all the dark clouds. I'm glad you found my blog, although I'm sad when people find me because they are going through similar experiences. I have to say - regardless of the fact that we lost our son after his liver transplant - I have 2 beautiful, healthy boys who are thriving because of their 2nd chance gift of life. I would transplant again, if faced with the choice. Do you facebook? There's a lot of support for both living with the UCD and being transplanted. Look me up - Amy Martin Hillis and I can help connect you with a very supportive community. Good luck. I'm here if you need an ear.

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  2. I am so sorry you have to go through this! I concur what Amy says. My daughter has CPS-I so maybe it is different, but can they start treatment right away on your little boy so that he never has a hyperammonemic episode initially? (Or maybe this is the personal choice you were talking about?) There are a few other mamas on facebook who are carriers and their boys have been transplanted.

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  3. Toronto Sick Kids is looking into it for us. They have never done treatment for a UCD from birth here, nor do I believe they have done any transplants under a year of age, but I gave them a number of starting points for research. We meet with them late next week.

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  4. I have heard of a few out of US families having their doctor consult with the genetic doctors here at Children's in dc. I know parents themselves have called Chrildren's to get the ball rolling where they live. Our doctors here, if we were to have anymore kids, would have specialists in the delivery room and start treatment immediately. If you email me offline I can give you the names of people at Childrens, and also of some other OTC mamas.

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