by Andy Stevenson
I always find Beth’s birthday difficult and emotional, I know many parents who have children with Rett Syndrome do. It’s human nature to look back and think how different things could have been for her. This year it’s been even worse because it’s a milestone age and we haven’t seen her in person since March 7th 2020.
Twenty-one years ago I’d never heard of Rett Syndrome. When I held Beth for the first time, all sorts of thoughts went through my head about how great her life was going to be and what she was going to achieve. Even at 10 months old she seemed to be developing normally, reaching milestones, bringing me toys and waiting for confirmation that it was a good one. The overwhelming thing that I remember now is how happy she was.
It was obvious something had been going wrong as my happy little girl had become withdrawn and lost most of the skills she’d learnt. It took a while and lots of hospital appointments before I heard those two words that did their best to break me, it’s been a rollercoaster for us both ever since.
The last couple of weeks I’ve been feeling extremely low about this day then something struck me. There are many, many parents that I know who would love to be celebrating their child’s 21st. Sadly, Rett Syndrome has taken those children leaving just memories and thoughts about how different things could have been. When I got involved with setting up Reverse Rett it was for one selfish reason, Beth. Now every day I think about all the other people I’ve met with Rett and those families that have lost their precious children.
So I’m determined to celebrate Beth’s life and the fact that she is still here.
When we started Reverse Rett, all we had was just a load of hope but now there’s real progress. Clinical trials for new drugs are happening here in the UK. The first UK Rett Syndrome clinical treatment and research centre, the CPMRS is managing the health of complex patients with Rett, whilst churning out research publications to improve the lives of children and adults everywhere. And not one but two gene therapy trials look likely to start at the end of this year. This could result in a cure. What that cure will look like or whether it will get here in time for Beth, no one knows, but any improvement is worth fighting for.
I know I keep asking my friends to help and I can’t lie, I’ll keep asking for your support until Rett Syndrome is gone and joins the other diseases that no longer exist.