CanadianCindyB

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 w...

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 ...

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 concer...

So, first of all, I'm writing for mostly myself.  I'm kind of hoping that no-one I know in real life will read this for at least another month.  So if you know me, please keep this a secret!! One week ago today, on a Friday, I took a pregnancy test, and it was...POSITIVE.  That was three days before my period was due, but I suspected, because the weekend before I slept, and slept, and slept.  I slept for 14 hours each night, when I normally only get about 7 or 8 hours of sleep. So...due to my being a genetic mutant, being a carrier of ornithine transcarbamalase deficiency, (OTC Defiency for short),  Link to older post describing otc deficiency , my first step past telling my husband was to phone my genetic friends at Mount Sinai in Toronto. The last time I dealt with Mount Sinai was in 2003, which is when my son who was affected by this genetic disease, was born and died three days later.  I had known during the pregnancy that this was the case - we h...

My husband likes to tease and tell people that I'm a mutant.  It's not really wrong.  It's true!  I'm missing an enzyme that tells the body how to metabolize (use) protein properly.  There's a name for what I have.  Don't worry, I don't expect you to remember it.  It's Ornithine Transcarbamylase Deficiency, typically denoted as OTC Deficiency.  If you really want to remember it, just think OTC - Over The Counter.  If you watch House, you might have heard of it.  In the very first season, one of the characters had OTC Deficiency.  I didn't see it, but apparently it had to do with a man who got sick, his brother snuck a steak into the hospital for him to eat, and then he got much more sick! I've known about this since I was 4.  I have this lovely family memory of going to Ponderosa (does Ponderosa exist anymore?) and getting to eat jello while none of the adults cared what the kids ate.  It was nearly the whole family on my m...

Have you ever done a personality test? To see what your personality characteristics are? Admittedly, there a lot of really hokey ones out there that i wouldn't recommend other than for a laugh. But I have found that the Myers-Briggs testing runs true. Myers & Briggs were a mother and daughter pair born in the late 1800's who were spent nearly their entire lives putting together their theories on personality types, which were based originally off of Jung. Divided into 16 categories, some more rare than others, I have found that this test rings true! Do you know what category you fall into? I am an "ENTP". Extraverted, Intuitive, Thinking, Perceiving My husband is an "INTJ". Introverted, Intuitive, Thinking, Judging. I was interested in knowing what my daughter might be. She is 8. I found a site, where parents can answer questions, and find out. Here's the link . They don't tell you what the third of the fourth characteristics is, becau...