Posts

Showing posts from June, 2011

Fetal Echo Cardiogram

The fetal echo cardiogram on Tuesday at Sick Kids went fine.  No problems at all.  So that's good news.  The medical fellow who did the ultrasound was 16 weeks pregnant with twins...can you imagine how hard it would be for her to have to tell people that things aren't good with the heart while she's pregnant herself?  A tough spot to be in.

So we're glad that went well, because if it hadn't, we're pretty sure that the possibility of using any treatment options/end results liver transplant would have been eliminated.

On another note, I've been looking for blogs from anyone who has documented their time in treating a baby with OTC.  I havn't managed to find any.  I have found a few blogs that talk about treating their children with other urea cycle disorders (of which OTC - ornithine transcarbamylase deficiency is one of six urea cycle disorders, and the most common of the six). 

Even though it's not exactly the same (but similar) I found Katie who p…

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 p…

50/50 Chances

My amnio was on Monday.  My own OB performed it this time, and it was a much better experience than I've had in the past.  He was super quick at doing it, and it didn't hurt as much as previously, and there was no cramping involved.

I had to somewhat laugh at the post-care instructions...bedrest not required, but no working, lifting, carrying, bending, laundry, dishes or exertion for two days.  Um...so what does that leave?

We were expecting to get results today (Wed) but got partial results yesterday instead. 

It's a boy.  With being affected with OTC Deficiency (and X linked disorder) this now means that our chances of a healthy baby have dropped from 1 in 4 to 1 in 2.  The 25% chance of baby being affected has now been raised to 50%.  One in two.  50/50 odds.  The odds suck.

I had been hoping to hear it was a girl so that we could shed our worries.  I admit to crying when I found out. I'm glad for the info, but now our concerns have been raised.

For those who don&#…