William Syndrome Wednesday: Not all news is bad news

Here’s a post that I just popped up on Mommydo
But before you read it, here’s a little photo of Obi in case you don’t want to read about this new adventure and just want to check up on the little miss.

A little update on the little miss. Obi met with cardiology today and she doesn’t have any of the heart trouble often associated with Williams Syndrome. This is outstanding, especially when you consider that heart issues are generally a defining factor in the disorder. I, of course, hope that the lack of cardio involvement will translate to a less severe manifestation of the syndrome but I know the two are not related. Still, a little sunny news goes a long way these days.

It’s amazing. When you suddenly find yourself in uncharted territory, the way you see and process the information coming at you completely new too. For instance, if you’d told me when I was still carrying Obi, that I would go to see a cardiologist, one of a whole slew of specialists tracking my soon to be born baby, and I’d been pleased to be there and delighted that she could be followed at our local hospital I would have looked at you like you had two heads. Which part of ‘seeing cardiologist’ is good news I would have wondered. Isn’t the fact that you’re there at all bad news.

Everything has changed.

I met with a dear friend today, one who is also a parent to a child (2 in fact) with special needs. She asked me if I’d read “Welcome to Holland”. In fact she said “Has anyone tried to jam that Welcome to Holland shit down your throat yet?” The fact that she asked me, and more importantly that I knew what she was talking about and was able to ask if she’s read some of the responses made me acutely aware of how the old days are gone forever, replaced by a brave new world. One where news that used to sound bad is far better than real, REALLY bad news. None of which I received today. I’m grateful for that.

If you don’t know the ‘holland’ thing, read here and here and next week we’ll discuss that. Because, I have a lot, and I mean A LOT to say about f’ing Holland.

The new normal

Yesterday we met with the genetics clinic at our local children’s hospital. Seems wee Obi does indeed raise some flags for a genetic issue.

We’re wading into unknown territory here. At least for us. We’ve already done the blood draw for the micro array. They’ve also submitted for a more specific test. Their first suspicion is Russell-Silver Syndrome or some abnormality in the same family.

They also felt there might be a vision problem, which might be partially responsible for her delays.

When we got home from the appointment I did some digging online – I can’t really call it research as I didn’t take 10th grade biology let alone genetics and was completely overwhelmed by the science of it all. I did see that there are some references to people studying a connection between RSS and IVF specifically with ICSI. And another study showed a high incidence of eye trouble in babies with RSS – even though that’s the one thing the genetics Dr said was inconsistent with RSS.

All in all, it’s wait and see for now. They said to expect 3 months for results and even longer for referrals to ophthalmology and MRI. I fear hoping “it’s nothing” is no longer realistic.

But in terms of bad news, RSS isn’t the worst.
This certainly comes with a whole bundle of mixed up feelings, but whatever is revealed can’t be changed.

The life I imagined for Obi may not come to be just as I pictured, but that picture was never real.

This is her real path. It seems like it won’t be typical. But it will be our normal. And we’ll just have to figure out how to make it great.

Old MacDonald

We went to the farm in the city this morning. Which turned out to be an excellent test for whether i’m going to have morning sickness any time soon. Despite not feeling bad at all and wondering at every moment if the end of this one is upon us, the poultry building very nearly had me tossing my cookies on the cobblestones. 

It appears I will be pregnant at least a little while longer. Ee I ee I obi.

Picking up the Pace…Beta #2

So the beta is back. All is good, beta is 328. More than meeting doubling time mark for a healthy pregnancy. They say you’re looking for a doubling time of 48 hours. We’re at 38 hours.
The not so good news is they are making me wait 3 WEEKS for an ultrasound! Wha?
I’m never going to make it. They are though, going to let me come in for a repeat beta on Thursday just to see how things are ticking along.

Hang in there Obi. Please, please hang in there.