Living a rare life

I love someone who is rareThe 28th of February is Rare Disease Day. So in the spirit of the day, I’m going to raise your awareness about what it is like living with a child with a rare disease.

In fact, Lil Z is so rare, she hasn’t even been diagnosed yet.

In some ways, it makes no difference that whatever chromosomal disorder Lil Z has is so unusual that we haven’t been able to identify it yet. Diagnosed or undiagnosed, rare or common, at the end of the day, it all comes down to Lil Z and not a label. A label wouldn’t change how we feel about her or what we want her to achieve. Nor would it change what her doctors and therapists do. I like that Lil Z is treated just as Lil Z without assumptions on what she should be doing or what will happen next.

That said, it means her life is completely unpredictable and unknown. No one has told us that she won’t walk or won’t talk or that her life will be limited, not because those things aren’t possible – they all are – but because no one knows. Forewarned is forearmed and we aren’t forearmed because no one can warn us of what is to come. Because whatever she is rare.

Even if we had a diagnosis, there is no guarantee that any of our doctors or therapists would know what that diagnosis means. We are into the realms of things so rare that there may only be a handful of children in Australia – or anywhere else in the world – diagnosed with the same condition.

So, we stick with our clinical diagnosis of atypical Rett Syndrome. Most medical professionals are aware of Rett Syndrome, and Lil Z exhibits all the primary symptoms – repetitive hand movement, reduced eye contact, mobility problems, non-verbal, breathing problems, slow head growth, swallowing difficulties, small hands and feet, teeth grinding, constipation, scoliosis, and abnormal sleep patterns, to name but a few – so it is a useful label to give a snapshot of Lil Z’s issues when we meet someone new.

And it gives me a community to cling to. Both the Rett community in Queensland and the CDKL5 community globally have been such a huge help with support and advice. Truly, Facebook is a godsend for those of us with rare children.

But outside the special needs and medical worlds, most people have never heard of Rett Syndrome or CDKL5. And this is another place where rare is difficult. People want to know about Lil Z and I still don’t have a set answer. Someone the other day asked in conversation if Lil Z had cerebral palsy – which is a respectable guess, really – and both QB and I nodded vaguely and mumbled “something like that”. A pathetic example of promoting public awareness, but sometimes you’d rather just make friendly small talk instead of educating the public on Lil Z’s possible diagnoses.

It’s interesting because before Lil Z was born, when the doctors were arguing over whether or not she had an enlarged ventricle in her brain, the doctors kept mentioning ‘soft markers’ and wouldn’t rule out Down Syndrome. DS was the ONLY disorder they ever mentioned to us. After she was born, it was clear that she didn’t have DS and everyone heaved a sigh of relief and declared her healthy. Once the obvious had been ruled out, no one thought that it could be something unusual, something rare.

Similarly, when we first got the devastating news that there was ‘something wrong’ with Lil Z, the paediatrican declared it was cerebral palsy – despite there being no evidence of any damage occurring to her brain during pregnancy, birth or up to that point. Again, it was choosing the common over the rare.

But Lil Z is proof – rare does happen.

The other day, Lil Z was sitting on my lap at the table while Vegemite had her dinner. Lil Z had been rolling on the floor earlier and somehow managed to dribble all over the shoulder of her t-shirt, which was soaking wet. Teasing her, I told her that she had “soggy shoulder syndrome”.

Vegemite looked up from her spaghetti with a ‘eureka’ type expression on her face. “Did you find out that’s what she has, Mummy? Does Z have soggy shoulder syndrome?”

Yes, we are rare indeed.


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