Sunday, September 4, 2011

Past Week & Meeting an OTC Affected Baby

This past week I havn't done a whole lot!  I did go to Toronto on Monday for appt's though.  I met with my internist at the clinic, which was new for me since I normally go see her in her office.  I had a resident come see me first, who immediately flipped out at seeing me drinking a can of Coke.  "How much caffeine is in that!!??", she briskly asked, grabbing the can.  I looked at her confusedly, "I don't doesn't really matter, the dietitian wants me to drink it!"  "What's your blood pressure?", she asked next.  "Um...REALLY low." "We'll see."

So she goes to take my blood pressure, and I'm realizing she hasn't looked at my chart at all, and is making assumptions about my case...  Apparently most of the people they see are there because their blood pressure is skyrocket high or because of edema and swelling.  So she takes my blood pressure, and the result is a "whopping" 102/64. "Oh. It is low.  You can drink it." Um, yeah.  That's what I told you!  I also had to keep repeating information to her.  When she went to write anything on my chart, it was not what I had said...she was getting everything wrong.  I had to keep correcting her. 

Anyways, out of all the people I've seen, this resident was the first that was not fabulous, and I probably will never have to see her again anyway.

So I still havn't gained any weight overall...I'm slightly below what I started the pregnancy at.  Baby however is measuring average according to ultrasounds which is good.  I have another ultrasound coming up this week.

Our fabulous geneticist took my husband aside during an appt, and told him to make sure to let him know when I moved to Toronto before the baby was born so that they could make sure to help keep me entertained when I was down there.  Isn't that nice??

On a really interesting note, my appt's are typically never on Mondays, but this past week it was because the internist had been on holidays the week before.  I normally go see her when I'm there for other appts, but since she was away, they booked me in for the Monday instead.  As I was waiting for her, I got a Facebook message via my phone (aren't smartphones FABULOUS??), from someone who I'd had a small amount of contact with over the past couple weeks. 

This person thought they had messaged me previously, but when they went to look if I had responded, realized they had never pressed send.  Oops!  Luckily I got her message anyway.  They were at Sick Kids that day for a clinic appt, and was I around that day too?  I was so thrilled to meet this lady, her mom and her lovely 3 mos old baby boy.  You see, the baby also has OTC.  They did NOT know prenatally, it turns out she is not even a carrier, it was just a random mutation for the baby.  But fortunately she delivered at Mount Sinai since she lives close to it, and when baby got sick at 2 days old, the doctors recognized what it was, tested ammonia levels, and were able to immediately send baby across the road to be treated!!  Baby was put on dialysis, ammonia levels were brought down, and they were able to treat baby by feeding him the special low protein formulas that our baby will also use.  Baby spent a month in the hospital, but is now home, and doing well.  No G tube, no NG tube.  Takes all the formula (which looks like just normal formula...I'd never seen it before so I didn't know if it would look "normal" or not) by bottle!  They go to clinic once a week to test ammonia levels and have the metabolic team decide if they need to adjust the amount of medicine or not...  It pretty much constantly needs to be adjusted due to growth of the baby.

I have to think that it was partially caught because the doctors at Mount Sinai knew about my case, and some had even seen the symptoms displayed when our last baby got sick with OTC.  And when baby was being treated at Sick Kids, it would have been around the same time that metabolic genetics was starting to look into potential treatment options for me too, while we were still waiting for the final genetic results.  If she had delivered anywhere else in Ontario, it probably would not have been caught as early.  I'm am SO glad for this family that a doctor recognized it and that the baby was able to be treated so quickly!!

This baby now looks nice and healthy and happy and is at home. :)  They are also on the waiting list for a liver transplant in order to cure the OTC, but both parents have the same blood type as baby, and since baby is getting bigger already it helps out that 15:1 weight ratio that I have talked about.  Both parents are going to be tested as potential donors.  Since baby is stable, they are being encouraged to wait until baby reaches at least 6 months before transplant so that baby is a bit bigger.

I have been told that our mutation of the OTC is a much more severe variety than theirs, meaning treatments might not work as well, but meeting this family has encouraged me.

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