Tag Archives: genetic testing

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.

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