Thread by @Toryscott

Something big happened in my life this week.
Some of you know about my sister Clare. She's a kickass human with Rett syndrome.
Rett stole her ability to talk & use her hands as a toddler. Now 43, she can't stand & can't communicate.
BUT - science has just played a blinder.
A 🧵

All the way back in 2007, I read a paper () that shook my world. Scientists had given Rett to mice in a lab and had managed to apparently reverse the condition using gene therapy.pubmed.ncbi.nlm.nih.gov/17289941/

It was both extraordinary and concerning. Could Clare's condition actually be reversed in adulthood? What would be the risks involved? Would it be the right thing to do? Would she be scared? Would it be painful? I had so many questions and no answers.

Fast forward to 2023. The first human gene therapy trial for Rett syndrome is underway in Canada. The entire Rett community worldwide has been holding its breath.
Until this week, when the company involved, @TayshaGTx , reported the progress of its first patient...

Doctors involved in the trial report: "Prior to treatment, the patient was in a constant state of hypertonia, had limited body movement, required constant back support, and had lost fine and gross motor function in early childhood."
Following treatment, however, they observed:

"Improvements in breathing patterns, vocalization and motor skills. The patient was able to sit unassisted for the first time in over a decade and she demonstrated the ability to unclasp her hands and hold an object steadily for the first time in infancy."

And all this after just four weeks. Wow.
The idea that Clare might be able to hold something again, to be able to use her hands independently and perhaps be able to support herself sitting is AMAZING. That would really improve her health and quality of life.

And so everyone with Rett, and those who love them, is sitting back and taking a deep breath.
There's a long way to go - there's an application for a trial in the UK in process - but my goodness, this gives us all hope. The amazing people at @ReverseRett & @rettuk in particular.

It's particularly poignant for me because that paper in 2007 gave me the idea for a novel which eventually became my debut, and a @BAbooksellers book of the month.

PATIENCE was about a woman with Rett whose family wrestle with the chance to enter her into a gene therapy trial.
amzn.to/44f84Be

I did a huge amount of research for it and it's so wonderful (and a bit crazy) to see some of the things predicted by geneticists I interviewed back then actually come to pass.
I won't spoil the plot in case you want to read it, but there are extraordinary parallels.

For now, we will all be monitoring Taysha's progress with its next patient, and wait.
I doubt Clare will ever have her condition 'reversed' - that's more likely for young children with Rett - but any improvements like the ones reported would be truly life changing for her.

You can read more about Clare and my relationship with her here - it's a feature I wrote for the BBC a few years ago about how we communicate without words: bbc.co.uk/news/disabilit…

I've also just realised that Patience is currently free on Kindle if you have Amazon Prime! Here's the link if you fancy a read: amzn.to/3qGn6lO