51: Amy Draper: Waiting Over a Year For A Diagnosis of Aarskog-Scott Syndrome

But on to this week's episode, and I'm delighted with who's on this week, I have to say.

So Amy Draper is somebody that I met through a friend ages and ages ago.

And then we connected on a deeper level when Amy got pregnant.

and was told that her baby had a very high chance of having Down syndrome.

So Amy was messaging me, I guess, for some advice and some support because she went through the majority of her pregnancy thinking that the baby would have Down syndrome.

Now, when he was born, he didn't.

He had something else, which is very, very rare.

And that's why Amy wanted to come onto the podcast today.

to talk about the syndrome that her son Donnie has.

Amy talks about how difficult she's finding the lack of community because this syndrome is so rare and also the lack of a plan, as she puts it, from the hospital in terms of what are their next steps? What support does Donnie need? What can they be doing as a family to help him? Amy also talks about her experience of being offered a termination throughout her pregnancy because of this diagnosis, even though it was wrong and the impact that that had on her having to have those conversations.

Now, I do just want to flag that we talk about baby loss in this episode.

If you feel like that's something that wouldn't be good for you to listen to today, then maybe listen to this episode at another time or even not at all if you feel like that wouldn't be the right thing for you to do.

I love Amy's energy in this episode.

The way she talks about her children is beautiful.

And although, as I've mentioned, I do know Amy, I haven't really ever had the chance to sit down and have this full in-depth discussion with her about her journey so far.

So I was really, really happy to have this chat and I really hope that you enjoy it.