A year into Rett Syndrome

What a year. The toughest to date. And unfortunately possibly not the toughest to come. This time last year we were weeks into life with Rett Syndrome. 18 months of appointments and tests lead to D Day on 1st December 2022. I'll never forget hearing the words "The tests show that Alba does have Rett Syndrome". It feels like my heart stops every time I relive that moment. The rest of that appointment was a blur, it felt like we were watching it happen to someone else. We walked out of that room wondering how we were going to make it home, let alone learn to live this new life. Our world had totally crumbled and we couldn't believe that the outside world was carrying on as if nothing had happened.

The final part of the conversation we had with our Paediatrician that day focussed on how well Alba was in general, and that nothing needed to change immediately. We agreed to see her again in the new year, hoping it would give us some space to try and enjoy Christmas. Little did we know what lay ahead in the coming months.

We had a trip to Edinburgh booked that weekend and it was honestly the best thing we could have done. We left Alba with my parents and it gave us a few days away to escape before we headed back to face our new reality. I actually don't remember much of the next couple of months, until mid February. Alba always like blowing raspberries. But throughout that month they became relentless and by her birthday on the 22nd she just wasn't quite herself. From my limited research I knew breathing could become an issue, and that it could come hand in hand with seizures. This played in the back of my mind for a few weeks until we had the opportunity to ask a consultant. He told us Alba was experimenting and liked the feeling. He said that the 'weirdness' we described that came with it was nothing to worry about. That was Monday evening. Tuesday morning she had a funny turn in physio and proceeded to have more throughout the day. By Friday lunchtime we were in A&E with suspected drop seizures and Friday night she had 3 full tonic clonic seizures. That day bumped D Day off the 'worst day of our lives' spot.

The next couple of months were hell. We both visited some very dark places. We barely slept, ate when we could find the energy and spent our days crying. I took a while off work and somehow we muddled through.

Going from a healthy 2 year old with development delays 12 months ago, things are different now. Alba is on medication twice a day to control her seizures. Her hyperventilating and breath holding consumes her most days and we're finding it's getting worse. She has a curve in her spine and requires more specialist equipment to keep her posture strong. She wakes up puffing and goes to bed puffing.

But I don't want this to be all negative. I would NEVER wish Rett Syndrome upon anyone. And I don't believe a SEND parent who says they wouldn't change their child. If I could take away her pain and struggles I would in a heartbeat, especially if I knew I could keep all the good bits too. This is potentially a reality. Gene Therapy trials began this year and the results are insane. We are focussed on keeping Alba as healthy as we can until the time comes that she receives a cure. I've said it before and I'll say it again - the hope of her getting gene therapy is what keeps us going. And I don't say that lightly.

This has been the worst year of our lives, but I'm so so proud of how far we've come. That we've survived a whole bloody year. And I'm writing this with tears running down my cheeks - that is how proud I am. I'm trying to see it as a year closer to a cure.

Along with friends and family we've raised over £20,000 for Reverse Rett. We've also been so lucky to receive a massive amount of personal donations that have paid for therapy, a new buggy and a week of intensive hydrotherapy at a specialist centre in Lanzarote next year. I've made connections with people that I now can't imagine my life without. No offence guys, I wish I'd never had to connect with you....but I'm so thankful for the support we've been able to give each other over the past year. You develop a dark sense of humour in this life as some days it's what gets you through. If you don't laugh you'll spend all day crying. But you can only share that with others who understand.

I've learnt a lot about myself and a lot about other people. Some who I considered friends I no longer do. Some I didn't consider friends I now do. Stupid things don't stress me out the way they used to. I have bigger things to worry about. I find it difficult hearing others moaning about trivial things, but I also try to be more open and understanding to other people's struggles. You often have no idea what's really going on in someone's personal life. I try not to make immediate judgement. I don't have the brain space for petty arguments and insignificant worries. I don't have the energy to make an effort with people who clearly have no idea what we live through daily. It sounds cut throat but honestly you do what you have to do to survive.

Alba has taught me a lot. I'm mostly just blown away by her ability to shine so bright every damn day. She smiles and giggles in between her difficult spells, and she takes it all in her stride. Since her diagnosis we've learnt a lot more about her and she understands so much more than we ever gave her credit for. She brings so much joy to our lives in spite of everything she goes through on a daily basis. I kind of believe that things happen for a reason. I don't think any child should have to go through what she does, but she was sent to us with purpose. Since the day she was born I knew she was going to move mountains and change the world. I just didn't know how 🖤

I want to say a huuuuuge thankyou to those who have been there for us over the past 12 months. To those who stuck around. To those who sent us food when we came out of hospital. To those who regularly check in. To those who talk to Alba like they would any other child, and who teach their kids about inclusion. To those who have helped us fundraise. To Rupe and Ben for enduring the most disgusting 30+ hours of hiking 100km through the Lake District in aid of Reverse Rett. To Wes and the team at the Ship for raising over £1000 from a 'free' meal night. To everyone at the Long Table for supporting Alba's therapy fund and for looking after us week after week. To my Rett Mamas - Joanna, Kathleen, Millie and Ang - for the tears, laughs and solidarity. To our families for being there and helping out when needed. To Jen, for being there at the drop of a hat and loving Qlba as if she were your own. To my gorgeous nephew for setting up a fundraising day at school and for seeing past Alba's diagnosis (and tolerate her invading his personal space!) To my incredible parents for everything they do for the three of us - no thank you is big enough. And to Dan for riding out this shit show by my side. This is 100% not what either of us signed up to but we're in it together.

Here's hoping that 2024 will continue to bring positive developments in treatment and continue to lead us towards a cure 🖤 I'm not going into this year with any expectations. We will continue to do whatever we have to do to survive and keep our girl strong and healthy. Perhaps we'll even get to finally say 'I do'...!