I know my daughter wants a cure

My daughter’s Rett syndrome is something she rages against, whatever we and others do. I’m fundraising to support research that has a real prospect of helping her. 

? This photo captures a special moment. For a good 20 minutes, my youngest daughter Amy and I sit like this – my daughter laughs, her eyes sparkle – mum and sister buzz around in the background. They gossip, joke, come over, check their phones, glance up at the ancient cathedral tower visible over the garden wall of the holiday cottage.

It’s Amy’s birthday. We smuggled an electric piano into the car – piano playing is her great love – and she is amazed to see it. She even prefers my mediocre playing to the vastly superior ‘demo’ option. Earlier we were at the beach. 

If every day were like this, had regular moments like this, I would deal with the fact that my daughter can neither talk nor walk. It would be poignant, but okay, that she cannot play her piano. 

I love my daughter and accept her for who she is. No-one actually walks a million miles for a smile, but I regularly push her heavy wheelchair up a pretty steep hill in the hope that she’ll like what’s at the top.

But not every day is like her tenth birthday. Amy is not just ‘special but different’, requiring only particular accommodations to be made for her Rett syndrome to be happy.

Instead she regularly hammers – screams – at the boundaries her condition has set her. On the way to this holiday, she screamed for two of the six hours the drive took.

She needs a cure for her condition – there is a part of the scientific world I need to focus on her and fix her condition. That’s a real possibility – more of that below.

Like the narrator of The Great Gatsby, who can list the guests who came to Jay Gatsby’s parties, I’ve learned lists of medical and scientific terms, relating to my daughter, that are now laden with meaning:

Microcephaly

Epilepsy

Scoliosis

Dystonia

Apraxia

Gelastic seizures

Risk of aspiration

I can recite her drugs in my sleep.

Epilim (Sodium Valproate)

Lisinopril

Movicol

Gabapentin

Glycopyrronium

I can list the afternoon barbecues and restaurants we’ve left because of her unhappiness, the times one of us has walked out with her, while the other stayed with our eldest daughter to give her a sense of a normal social time.

Hope is more dangerous than despair, many people have observed.

If accepting Amy’s Rett syndrome ‘worked’, I’d do that.

But… Rett syndrome stands between who she is and what she wants and needs to do.

Her hands, with great effort, reach out for a piano keyboard, but she can do no more than hit the odd note.

So, I’m fundraising for a cure – through a wall of discomfort, as I hate asking for things.

I am driven to do that, not just by my daughter’s suffering, but by the knowledge that a cure, and more immediately the relief and management of some symptoms, are a real prospect.

Rett syndrome has a single genetic mutation as its cause – one that has been reversed in mice, an incredible laboratory experiment successfully repeated many times.

There is other research, some of it in the process of entering human trials, that will help symptoms like (relevant for a would-be pianist) the ability to better control limbs.

Human trials represent a major step forward.

There are many worthwhile calls on all of our finances, and I completely understand if Rett syndrome if not one you choose to support – I’d just be grateful if it is.

As a family we’re walking/running 5k this weekend in the Parallel London event. It’s not a big distance, but I hope you’ll sponsor us, or share this post so that others might.

I have a preferred ‘what happened next?’ to the moment captured in the photo above. Instead of struggling up the narrow stairs of the holiday cottage holding her – getting her ready for bed long before the rest of us will go - I lift her down from the picnic table, she runs inside, and I start to get our dinner while she practises the piano.

By Amy’s own account, the way she is is not okay – I’ve become convinced that the way she is could be changed.

We have set up a Just Giving page for this event https://www.justgiving.com/fundraising/amyreyes