Thursday, June 30, 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 posts about her experiences with her daughter (who will be 1 in August), who has another urea cycle disorder called Carbamoyl Phosphate Synthetase 1 (short form is CPS-1).  They had a liver transplant done at 4 months of age, and she has many posts about the reality of the disorder and the reality of life after transplant.

In case you are interested in taking a look at her blog, it is at:

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!

Monday, June 20, 2011

Still Waiting on Genetic Results from Yale

I'm still waiting, and more than a little peeved/aggravated about it.  Last time we went through this (8 years ago) we knew (the bad) conclusive results 13 days after the amnio. 

It's now been 3 weeks, and no word.

The difference (I think) is that OHIP is trying to save money, which I somewhat understand, as the testing is extremely expensive.  Last time the fluid went straight to Yale, and they grew the cells there and did the analysis.  This time, they grew the cells in Toronto first and then sent the cultured cells to Yale.  I suspect that Toronto is not as skilled in this as Yale is, and it has taken longer.

I checked in on Thursday and apparently Yale had only received the cells the day before. GRRR.  I don't know how long it takes for them to analyze them, but plan on asking my genetic counsellor.

My genetic counsellor was away last week, so I had been talking to another counsellor, who had no idea how long it would take. Mine is supposedly back today, but I have called and her voicemail hasn't changed yet from saying she's away until today.

We're trying to just "go on" with life at this point while we're waiting.  I'm trying to put on a good face, but I don't think I'm succeeding very well at it!

Thankfully today was my once a month cleaning lady, so at least the house is in better shape! 

On the bright side, I *think* we may have come up with a name, but it's not 100% yet.

My 20 week u/s is on Thursday.

I'd like to find out one way or another so that I can plan either way.  The emotional strain of waiting leaves me very physically tired.  Once we know, I can either plan on taking a sick leave either through work (not sure if it would be granted since they deal with an external agency for leaves now) or through EI, or actually start planning for baby to arrive by planning, shopping, pricing items, etc.

Wednesday, June 1, 2011

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. 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't know our history, baby being affected = baby not living for more than a few days after birth. 

We've already "been there, done that".  I don't feel like doing it again!  In 2003 our son Colin was affected, and died 3 days after birth.  I had found out at 18 weeks pregnant with him that he was affected.  It was a brutal time for us...

For now, we need to wait for the full genetic analysis.  They can't even do it here in Canada, they have to ship the cells from the amnio down to Yale in the States to be examined.  We should have the results in 2-3 weeks.  That time is going to be a terrible waiting period.

In the meantime we're waiting, family is waiting and friends are waiting for the news.  Many of them were with us the first time around and watched us go through everything that time.  We have many, many people rooting for us that baby will be ok.  I sure hope so, because I'm afraid of the mental basketcase I will become if he's not.

I also feel a little bit like an "untouchable"...people don't know what to do or say, so it just gets avoided in many cases.  I also feel like we are getting talked about by people, which is probably true, mostly out of true concern for us, but I am fairly private person all in all (even though most people would think of both my husband and I as extroverted!) so it feels a little weird to feel like my life is on a very public display.  I don't want to be pitied...I just want people to say "It's completely crappy that you are going through this, and I hope/pray that all ends up good."  It's that verbal/written acknowledgment of the situation itself that I personally appreciate.

Overall, despite the 50/50 situation, I am still optimistic that we will have a healthy child (boy!).