After months of waiting, we finally had an appointment with a geneticist yesterday.
To be honest, I wasn’t expecting much of an outcome from the appointment. I figured he would ask us a lot of questions (which he did), examine Lil Z (which he did), and recommend some further tests (yup, he did that, too). But what I wasn’t expecting was for us to walk out of the office with a likely (although not confirmed) diagnosis.
But we did. And once again, Rett Syndrome is back on the radar.
I feel like I’ve had a love-hate relationship with Rett Syndrome. I’d never heard of it until it was raised during one of Lil Z’s hospital admissions. I had a sneaky look at Wikipedia on my phone and promptly burst into tears. I’d never thought of the possibility of Lil Z not being able to talk or walk, of regression, or that her condition could limit the length of her life. So, Rett Syndrome became my greatest fear.
Still, I’d nearly come to terms with it when the test for it came back negative. At that point we’d had a CGH Array test with no positive results, so QB and I began to prepare ourselves mentally for Lil Z living her life as a SWAN – syndrome without a diagnosis. QB thought she’d never be diagnosed whereas I thought we would eventually get a diagnosis, but that it would be something so obscure that it would essentially be meaningless.
And then we had an appointment with the geneticist. And Rett Syndrome – albeit a rare variant of Rett, called CDKL5 – reappeared in our vocabulary. Its not confirmed – she will need a blood test for that – but the geneticist seemed fairly confident that is what it will turn out to be. We have to jump through some hoops to get the blood test done on Medicare (since its unlikely our private insurance will fund it) so we will be in “probably but not certainly” limbo for awhile.
That said, a diagnosis of Rett’s wouldn’t be a bad outcome. Most people have never heard of it, but it seems to be well-known in the medical community. There are international awareness organizations, support groups, research studies, and even an Australian register for girls with Rett’s. And, as QB quipped, with a name like CDKL5, Lil Z obviously has the Mercedes of the syndromes…
Its probably good that we’ve had to wait nearly a year for an appointment with the geneticist. Back when Rett Syndrome first came on the radar and reduced me to tears, I wasn’t ready for the news. There was still too much to process mentally about Lil Z and the outlook for her life. Now, both QB and I have come to terms (at least partially) to the fact we have a special needs daughter. And we both understand that Lil Z will be Lil Z, whether she’s a SWAN or has Retts or CDKL5 or some other named or unnamed genetic malformation. She’s going to grow and develop how she’s meant to, with or without a diagnosis.