I always imagined that we would receive a diagnosis for Lil Z in a doctor’s office. The doctor would come in with a stack of papers – probably the detailed results of some complicated genetic test – and would give us (because QB would be there, too) a stern but compassionate look and announce the name of the syndrome that has caused her so many problems during the course of her life so far.
Where I didn’t expect to hear a diagnosis was from the hospital finance department, but that’s where we got our answer. Or at least our answer for now. There it was, in my Inbox, yesterday morning. I’d been corresponding with the beleaguered finance manager who liaises with our incredibly difficult insurance company. She sent me the latest documentation that they provided the insurer – which seems to have satisfied them at last. And there it was – a letter from her paediatrician stating that Lil Z had a diagnosis.
Go figure, we’re able to put a name to it after all. The global developmental delay is nothing new because doctors have been using that phrase since before we even understood the depth of Lil Z’s issues. And the epilepsy comes as no surprise either – that one has been obvious for a while now. But this is the first time she has been definitively described as having a-typical Rett Syndrome.
The paediatrican has told me before that he believed that a-typical Rett Syndrome summarizes her condition. Clinically she fits the description perfectly, but her genetic tests have all come back negative. What this letter effectively shows is that her doctor has decided to give her a clinical diagnosis.
For those of you who may not live and breathe medical terminology, a clinical diagnosis is made on the basis of medical signs and patient symptoms, rather than diagnostic tests.
In some ways it’s a big step. In others it is completely meaningless. At the very least it means that we’re able to better manage things like medical claims and funding, since insurance companies and the government don’t seem to grasp that someone could be undiagnosed, but still have a syndrome.
However, it probably won’t help explain Lil Z to people on a daily basis. Although Rett Syndrome is one of the biggest causes of severe disability for girls, very few people have actually heard of it. And the fact she’s a-typical means that it won’t give us much in the way of prognosis or long-term outlook.
What the diagnosis won’t do is change how Lil Z’s therapists and doctors treat her. As they all regular remind me, they treat Lil Z, not a diagnosis.
However, I do wonder if it will change the way I see her – or the way I think about her future. After I had hoped in March to have our suspicions of CDKL5 confirmed once and for all, only to have the long-awaited test results come back negative, I’d worked on convincing myself that not having Rett Syndrome or any variant of it, was a good thing. And trust me, being glad your child doesn’t have Retts isn’t very difficult to do.
I also decided to embrace the fact that Lil Z may always be a SWAN (syndrome without a name). And considering that she only has a clinical diagnosis for an a-typical variant of Retts, I’m not sure if I’m fully ready yet to relinquish our SWAN status. After all, we may have a name for our syndrome, but to me being a SWAN is also about being a round peg in a world of square hole diagnoses, which still describes our little girl.
So, now I’m doing some mental and emotional reversing. While QB was happy to have an official diagnosis, I was a bit less thrilled. And I blame Google. Reading articles on Retts, watching YouTube videos and following blogs has made me realise how unrelenting and difficult it is caring for a girl with Retts. And I find it disturbing to read how girls with Retts are effectively trapped in their bodies – unable to communicate. Read about Rett Syndrome and it will state that it is unknown if, or to what extent, the girls suffer from intellectual disability because communication is so difficult. This is not something you want to happen to your daughter. Especially not when we’ve been in a “sweet spot” of lots of advances and no seizures lately and QB and I have been spending a lot of time envisioning her (happy) future.
In short, I’d made an amateur mistake. I had over-dosed on Google and immediately applied the worst of my findings to Lil Z.
With a few days to digest the news now, I am beginning to remember that Lil Z will always just be Lil Z. And that the diagnosis – even if it was obtained through the finance department and is only a clinical diagnosis – is a good thing. For starters, it means that I can begin to rebuild my relationship with Google by finding Rett Syndrome specialists, specialist treatments and therapies, as well as support groups. It also means that I can register Lil Z with InterRett, a nation-wide register of girls in Australia with Rett Syndrome, and the International CDKL5 database, both which could lead to more information, further testing and clinical trials in the future.
And for those of you who are channelling aggression to our paediatrician for allowing us to discover Lil Z’s diagnosis through a letter to an insurance company, please stand down. In hindsight both he and the geneticist have been telling us that its a-typical Retts for months, but I think QB and I were so fixated on a genetic result that nothing else quite got through to us.
We’re there now. We cracked open a bottle of champagne last night to mark the importance of finally receiving a diagnosis. It may not be backed up by genetic results, but its Lil Z’s diagnosis and we’re sticking with it.