Worries already

8:20 AM

Last night my OB/GYN called me. She had talked to the geneticist in town about what happened to my husband and me and to ask if Preimplantation Genetic Diagnosis (PGD) is available for Spinal Muscle Atrophy (SMA). As I already knew, PGD is available for SMA. That’s the good news. The not so great news is that PGD is not available for certain mutations of SMA. That caused my stomach to sink. I had my hopes focused on this testing. In the back of my mind I was thinking about the geneticist in Portland who told us there was no PGD available for this disorder. Maybe Orion had the kind of mutation they cannot test for.

I was feeling pretty low the rest of the evening because of the phone call. Dom and I are starting to get used to bad news though. My doctor gave me the geneticist’s phone number that she talked to, so.

I realize that Orion's SMA it is what it is. There is nothing I can do to change the outcome, so I shouldn't be so worried. If they can test for it they will otherwise we will just try and see if we can have a healthy child naturally one more time. There is a 75% chance of a healthy child after all. I would just feel much better knowing the condition has been tested for and get over that hurdle.

I am doing what I can right now though by requesting medical records and I'm going to be calling the geneticist in town to talk and find out if testing can be done or not prior to becoming pregnant. Once I know that I can start dealing with it instead of thinking about it and wondering.

10 AM

I just talked to the geneticist in town and she said there is an 85% chance that they CAN test for this disorder. We are a bit concerned (she and I) because she knew the geneticist in Portland that gave us the diagnosis and wondered why he said there was no preimplantation testing available. Maybe he knew what kind of mutation it was and that's why he said what he did. This new doctor said that maybe he was not up to date on all the testing for this specific disorder and it is a special interest for her, so she is all caught up on it.