Alba's fight against Rett Syndrome

Alba was born happy and healthy in February 2020. Lockdown meant we didn't get to socialise with other babies, and as soon as we could we realised there was something a little bit different about Alba. At around 12 months it was clear she was delayed in all areas of her development, and the skills she had were beginning to fizzle out. She used to wave, clap, turn pages in books and make a few animal noises but over the coming months those things disappeared. Her peers were learning to talk and walk, but she wasn't yet crawling let alone standing and walking. She didn't crawl until 15 months, despite sitting independently before 6 months. In September 2021 we raised our concerns with the GP and were referred to various professionals. 2022 was a year filled with appointments, blood tests, physio, speech and language support, phonecalls and more referrals. In December 2022 we received the devastating news that our beautiful Alba, so full of sunshine smiles, has Rett Syndrome.

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls, and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. It is not a degenerative disorder with individuals living to middle age or beyond. Rett syndrome occurs worldwide in 1 of every 10,000 female births and is even rarer in boys. Rett syndrome can present with a wide range of disability ranging from mild to severe.

Despite all her physical challenges, Alba was generally healthy and well and we assumed we had a while before Rett took hold of her little body. We were wrong. In February 2023 year we noticed Alba's raspberries turning into more relentless puffing, resulting in weakness and 'woozy' episodes. Bouts of hyperventilating and breath holding began to impact her daily life, making mealtimes tricky and standing and using her walker even harder. Then at the beginning of March these episodes changed, resulting in a hospital visit. That night she had 3 full body seizures and has been on medication twice a day ever since. We've had 3 further trips to hospital, all with periods of frequent seizures - almost hourly, every hour for 1-2 days. We're still trying to figure out the best medication for Alba to keep her stable, and currently her breathing is still impacting her quality of life on a daily basis.

We've never been the kind to ask for help, especially not financial help. But with things taking a sharp dive, we've realised just how much Rett Syndrome is going to impact Alba's life and how things may happen a lot quicker than we first thought. We get a certain amount of therapy and support on the NHS but it's minimal, for example she gets one hour long physio session every 6 weeks. With treatments and gene therapy on the horizon for Rett Syndrome, we want to do all we possibly can to give Alba the best chance at staying as happy, comfortable, healthy and mobile as she can for as long as possible. In order to do this we need to access more frequent therapy sessions which comes at a cost. We also know there will come a time she'll grow out of her pram and will need something bigger, the same with car seats etc. We get some financial support through the NHS but waiting lists are so long - by the time a chair arrived that had been ordered via occupational therapy, they had to already order the next size up. Alba cannot current stand or walk independently. She has orthopaedic boots and a walker to help her get around and we are hopeful that one day she will take independent steps. She cannot yet talk, but knows exactly what she wants! We're working with her speech therapist to get her an eye gaze machine which will open up a whole new world for Alba. She currently uses her eyes to communicate, which is obviously an extremely frustrating process for her. Alba also has limited use of her hands, something that is likely to deteriorate. She needs support with every single daily activity.

We have so far been able to use this money towards an intensive hydrotherapy trip to Lanzarote this year, a specialist buggy to offer her body the support it needs, and a scoliosis suit to try and slow down the curve of her spine. I know this is just the start of things we hope to be able to provide for Alba.

So many of you have asked how you can help or what you can do, some even already offering financial contributions. So we're asking now, if you do want to help Alba's fight against Rett Syndrome then anything you can spare will be so gratefully received. We have plans for fundraising events (as soon as we have the brain space and energy to organise them!) and all proceeds will go towards Alba's fighting fund.

If you've met Alba, you'll know how infectious her smile is. Please help us keep that smile on her face