Tomorrow Lil Z has an appointment with her paediatrician. Its nothing special – she has 3-monthly check-ups with him – but I am hoping that he may have received the results of the genetics test for CDKL5. I was told that it can take up to 6 months to get the results, and it has been over 6 months by now. And I want to know. I want a diagnosis
The paediatrician is less enthusiastic about finding a name Lil Z’s syndrome. He is the one who diagnosed her with a genetic syndrome and he’s since been backed up by the geneticist. He was also the first one to refer Lil Z for the CGH array and to test her for Rett’s Syndrome. When all those tests came back negative, he seemed to have lost interest in finding a specific cause for Lil Z’s problems.
This isn’t as dramatic as it sounds. He is still very much interested in treating Lil Z and over the past two years, I think he really cares about her. But, as he repeatedly tells me, a diagnosis won’t make a difference to him. He is treating Lil Z, not a named syndrome.
Lil Z’s therapists tell me the same thing. Whether she’s diagnosed with CDKL5, something else or nothing at all, they’re going to continue the same plan. A diagnosis makes no difference to how they treat her, how they plan to help her development. And that is a good thing. They’re seeing the real Lil Z and not a diagnosis that doesn’t begin to describe her.
So, why do I need to know?
I’ve given this a great deal of thought lately, and I’m still not sure if I really understand why.
Part of it, certainly, is that a diagnosis gives you some indication of a prognosis. At the moment, I don’t know if she will ever walk, talk, use her hands in any meaningful way. I don’t know if she will ever manage to move from PEG feeds back to eating orally. I don’t know if she will ever outgrow her seizures. I don’t know if she will survive childhood – something I don’t like to think about, but a grim reality for many severely disabled children – or if she will outlive QB and me. I don’t know what to expect in the next 6 months, let alone five, ten or twenty years from now.
And prognosis is important. When you have a “normal” child, you know what to expect, what the next stage will be. Vegemite moved from one stage to the next from the time she was born with blessedly boring predictability. It was as if she was reading one of those “Your Baby in the First Year” books at night when we thought she was sleeping. Holding her head up? Check. Smiling? Check. Sitting? Check. Walking? Check. Talking? Check. Meanwhile, I’m still waiting for Lil Z to move off the first page of that book…
A diagnosis also makes it easier to explain Lil Z in 20 words or less. For the past 6 months, Lil Z has had on her hospital chart that she has A-typical variant Rett Syndrome. It hasn’t changed her care in the slightest, but while most of the world hasn’t heard of Rett Syndrome, it does mean something to people in the medical world. And that spares me having to run through the usual list of things that are wrong with Lil Z or that she can’t do.
Also, because our family and many of our friends live overseas, having a diagnosis can help them to find out more and get a better idea of what Lil Z is doing, why she’s doing it, and what we’re going through as a family. Even CDKL5, as rare as it is, has loads of websites, resources and blogs online.
And finally, a diagnosis will give us a way to fit in. That sounds crazy, I know, but so much of the support – and in Australia even the funding – for special needs is broken down into different diagnoses. There are support groups for Downs Syndrome, ASD, Retts, Cerebral Palsy, Epilepsy – you name it, there’s a support group for it. If not an actual one, then a virtual one. But although Lil Z ticks nearly all the boxes for Rett’s Syndrome and all the boxes for CDKL5, without a diagnosis, I wouldn’t feel like I belonged in one of their support groups.
There is even considerable support for SWANs (syndromes without a name). I belong to a Facebook SWAN group but have never felt that I completely fit in – probably because it is based in the UK, so despite sharing many of the problems, the healthcare system is different (which matters when so much of what you’re discussing involves medical treatment and services).
Wanting to fit into a “group” isn’t all about me, either. I want to meet other parents with children like Lil Z so I can get an idea about the future. Not just prognosis, but also what therapies, equipment, medications and who knows what else might help.
My need for a diagnosis is more emotional than medical. But then I suppose, like her doctors and therapists, QB and I have come to terms over these past two years with who Lil Z is. A diagnosis isn’t going to change who she is or what she means to us. But a diagnosis will give us a better understanding of her and potentially new ways to help her.
So, here I sit, the night before her appointment, hoping that tomorrow I’m told that she indeed has CDKL5. No one wants their child to have CDKL5. But at least it would put to rest our search for a diagnosis.