Doctors and conversations

A lot of you have been asking how our genetics appointment went this past week. Because we’d already gotten the results over the phone, it wasn’t really an earth-shattering meeting.

We did LIKE the genetics counselor. She drew some pictures to show us where the deletion in Ava’s chromosome 15 happened. There isn’t really a “why” to it, but she explained as much about it as she could that we could reasonably understand.

She did give us some idea of what to expect with an Angelman child, but actually didn’t give us a laundry list of “Your child won’t ever ________” statements. She said that every child really is different and even though there is some claim that a deletion (what Ava has) is the most severe, all the rest of her genetic material will still come into play and impact her development too. Made sense.

Let me be clear, though, and say that the intellectual & physical disabilities of Angelman syndrome are severe. Even a good outcome for Ava is going to include major limitations and dependency. Ava’s life will not be “normal.” But there is definitely value in doing therapy and helping her gain as much ability as possible because we don’t know her exact potential.

That’s about it. We also saw the pediatrician and audiologist this week but it was fairly routine. Well, other than me crying through the Ages & Stages survey they made me fill out for her 9 month checkup. Sometimes I wonder if it will always be traumatic to do things like this, or if I’ll get used to it.

Really, although it is the doctor’s appt. everyone is asking about, the most helpful meetings this week were a couple of conversations with other parents, some with the same syndrome and some with a different one. I feel like I have a mountain of follow-through ahead of me and am trying to pace myself.

Our main focus going forward will be therapy, therapy, therapy…and preparing for seizure management. Onward we go.

For those of you who like this sort of thing, I’m including the doctor’s sketch of chromosome 15 and a picture of all Ava’s chromosomes. (It’s a fuzzy enough picture that I don’t think anyone can try to steal her genetic info from it, if that’s even a thing. šŸ™‚

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