The call I received on Tuesday evening was expected, but early. 6 weeks early. We’ve made an appointment for you to come in and see the team at the kids hospital on Thursday morning, is this a good time for you?
I had pushed the thought of getting the results of Jovie’s last DNA test all the way to the back of my head, they weren’t due until the end of July and there was no point in worrying about it when it was still weeks away. Regan and I both suspected Rett Syndrome some 13 months ago, it was on the first referral from our pediatrician but I had not let myself self diagnose and go down that road unnecessarily.
Walking into the observation room at the kid’s hospital yesterday, we’re met with familiar faces and some new ones. All friendly, all with knowing eyes. There’s Jovie’s file on the table and it’s got some weight to it, I think. They ask how Jovie’s been going (Oh, I’ve been keeping an eye on her stair work and book flipping because she seems to be regressing again. No, she hasn’t had any seizures) and what we’ve been up to in the 6 weeks since we last saw each other.
We don’t fluff around much more when the Dr slowly asks me whether I remember what the last DNA test was for – as if I could of ever forgotten. She nods her head slowly and confirms our instincts were right – Jovie has Rett Syndrome.
I know alot of people have never heard of Rett Syndrome before – so here is a brief brief amateur summary from someone with approximately 24 hours experience (hello). Rett Syndrome is neurodevelopmental genetic disorder that is almost exclusive to girls. Every year in Australia, around 1 in 9,000 babies are born with Rett Syndrome. (In comparison to Autism with 1 in 88 children and Down Syndrome with 1 in 660). It causes issues with speech, fine motor, gross motor and growth, aswell as a myriad of other issues (e.g. scoliosis, seizures, hyperventilation, teeth grinding, difficulty swallowing).
In our case, Jovie is able to walk but alot of girls are in wheelchairs. In some cases, they can speak a little but Jovie is unable to currently. 80% will experience seizures. They used to classify it as a degenerative disorder which can result in a shorten typical lifespan, however this is not the case. Yes, some do pass away but some do live long lives with Rett Syndrome.
One of the traits of Rett Syndrome is Autism, so at the moment we still believe she is Autistic but her diagnosis is Rett Syndrome. We’ll most likely assess for this again over the years.
It is a random occurrence, not passed down through the family. No one could of detected it unless we were specifically looking for it. There is no current cure.
The Dr is explaining that they found the spelling mistake within Jovie’s genetics and all eyes are on me, trying to process all this information and the reality of a new stage of our lives, of Jovie’s life. I’m all kinds of things in the next 45 minutes – relieved, sad, tired, happy to have the diagnosis, terrified, optimistic, brave, a wreck. I don’t cry, I leave that for later that night when I’m on my own and reality truly sets in, and the team of professionals offer their support as we leave the unit.
Knowing what I know about Rett Syndrome so far, I’m a bit devastated, if I’m honest. I would be lying outright if I wasn’t sad about the diagnosis, I’m only human. Everyone has to find a pocket for their grief – whether it’s the loss of someone you loved, or your child getting a lifelong disorder diagnosed. There is value to that sadness, and you cannot move forward if you’re pushing that part of your heart away.
However, knowing what I know about Jovie and about myself and our family, we’re going to be okay. It’s just going to be a process and always will be.
So what next? Our appointment to the Rett Clinic at the kid’s hospital is in about a month. We continue to go to therapy and watch our for seizures and regression. Getting quotes to buy Jovie a wheelchair/stroller. I’m embarking on a 100-day challenge to sort my own issues out before I burn out. And we continue to love and cherish our family. Now with added Rett’s.