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 had an amnio done at 16 weeks and the results were in at 18 weeks. There is a 25% chance that it could be an affected boy again (which would die a few days after birth), 25% chance for a carrier girl which means watching diet very carefully, and a 50% chance that everything will be fine. I'm hoping for the last one. :)
I phoned my genetic counselor at Mount Sinai, but she is no longer there. I got a hold of the secretary, who told me I needed a referral because it has been more than two years since I've been there. But, but, if you just go get my chart you'll see that it's really, really thick, and I *shouldn't* need a referral I was thinking.
Fine. I phone my family doctor, hoping to get a referral from him. Apparently he's not back in the office until APRIL. Not much help to me. I got a hold of the front desk of the practice who told me I should use the after hours clinic to get a referral. Getting into the after hours clinic (we have no real after hours clinics here), is like getting into a radio telephone contest. Nearly impossible. With that, plus the fact that it's not the ideal place for a referral, I set about another route for my referral.
I'm involved in a longitudinal study for Urea Cycle Disorders (of which OTC is one), and I had just been contacted about a follow up visit a year and a half after my first visit. This is being done at Sick Kids, right across the road from Mount Sinai, so I asked if they could refer me. Within 24 hrs, referral was complete and I had a phone call from Dr. Chitayat's office. Dr. Chitayat is the most amazing doctor and he is the head of Genetics and Pre-Natal Diagnosis at Mount Sinai. He is brilliant, nice, and compassionate.
So, on April 12th at 9 weeks and 1 day according to LMP, I will go to Sick Kids in the morning for my followup visit for the longitudinal study, grab lunch, and then head across the road to the Hydro Building where Mount Sinai houses their high risk clinics, prenatal ultrasound and genetics departments for a dating ultrasound and then a chat with genetics.
I'm feeling a little weird about telling people, and am pretty sure I'm going to wait until after this first ultrasound to ensure the pregnancy is viable. I've had a miscarriage in the past, at 9 weeks, but apparently the baby stopped growing around 5 or 6 weeks. It will mean an almost 10 year age difference between my daughter and this baby, and I'm pretty sure at this point people aren't expecting us to have another child due to our traumatic loss of our son Colin and the amount of time that has since passed.
I'm feeling optimistic/good about everything this time around though. Last time I knew from the start that it wasn't going to work out well. So put us in your thoughts/prayers anyway though!