A rare life – day 24

I love someone rareMonday, 29 February is Rare Disease Day, and also marks the end of my challenge to blog every day. I hope that my daily posts have given you some insight into life with a child with a rare disease – so rare, in fact, that we haven’t yet figured out what it is…

I have decided to end the challenge with an article that I wrote last year to be published on the Firefly website. I really liked the article, so think it is worth re-publishing here, with a few improvements and updates, of course.

Thank you again for following along with our rare life during these past 24 days.

My daughter’s label has fallen off

I am an accidental expert at choosing items in a shop that are missing their price tags. Yes, I’m that person who holds up all the other shoppers waiting to check out, while a grumpy teenage employee drags his feet all the way to aisle 12 and back again for a price check. I don’t do it intentionally, but it just always seems to happen.

So, I suppose it is only fitting that when Miss Z was born, she was missing her label. When she was first born, we didn’t even look for her label, simply assuming that it read “healthy neurotypical infant girl”.

OK, that’s a lie. When Miss Z was born, we knew nothing about special needs and wouldn’t have had a clue what “neurotypical” meant. We would have just called her “normal”.

But it turned out that whatever was written on that missing label, “healthy” and “neurotypical” weren’t part of it. At 6 months old, she was given a new label: “epileptic”. That was swiftly followed by one of my least favourite labels: “global developmental delay”. But neither of those quite got to the heart of what was on her label. They were like the washing instructions, not the front-of-the-box, big letters, this-is-what-it-is label.

A pediatrician briefly put a “cerebral palsy” label on her, but it didn’t stick. Occasionally a medical professional tries to stick it back on, but that label lost its adhesive long ago.

At one year old, she was given a new label: Rett Syndrome. I did my research and was sure this one was it. Her label so closely resembled the Rett lable that her paediatrican and geneticist were sure that was her missing label. Except the genetic tests said it wasn’t. So, we peeled the Rett label was peeled off.

In the meantime we were furiously accumulating symptom labels: cortical visual impairment, apraxia, microcephaly, hypotonia, dysphagia, complex motor stereotypy, scoliosis and osteopenia – to name but a few. We generally had no clue, at least initially, what any of these labels meant. It was like the list of ingredients on the label of instant noodles – lots of long, complicated words that have no meaning to you, but you know instinctively that they’re not good.

We kept searching for Miss Z’s front-of-the-box label. The geneticist gave her a “CDKL5” label and it stuck for about six months until the genetic test came back, telling us that it wasn’t our missing label either. Another label was peeled off and thrown away.

After over a year of fruitless searching, our paediatrician suggested that we make our own label: “atypical Rett Syndrome”. He reasoned that Miss Z fit a clinical diagnosis of Rett Syndrome and the “atypical” could cover the fact that she didn’t actually test positive for it. Our hand-written label has been stuck on her ever since.

The only problem is that we don’t really know if our label is right. Every medical professional has his or her own opinion, ranging from “she is absolutely a Rett girl” to “she isn’t remotely Rett-like”. Miss Z is like a tin can with no label that you find at the back of the cupboard – you think it is probably green beans, but you just don’t know for sure. And we may never have a clear answer.

Being undiagnosed – unlabelled – is hard, although it is far harder for me than for Miss Z. I worry constantly about her future, as we have no idea what her prognosis will be. I wonder if there is a treatment or therapy out there for her specific condition that might help – but that we aren’t getting because Miss Z is undiagnosed. I feel like we are guilty of not doing enough to find out her diagnosis. Surely there is another test? A research study? Something?

Whereas, Miss Z just carries on being her own unique, hilariously grumpy self, who loves listening to Beyonce in the bath and being held while she sleeps, fakes exhaustion whenever a therapist enters the room, and can give the fiercest dirty looks on the planet.

No label is ever going to capture even a fraction of whom she is. But that doesn’t mean we won’t stop hoping that someday the right label finally sticks.





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