Oct 13 2023 52 mins 2
This episode is extremely close to my heart. Meghan speaks so openly about her family's day-to-life, managing all of the difficulties and battles that come with a diagnosis of 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.
Alba was born happy and healthy in February 2020. Lockdown meant that Meghan and Dan didn't get to socialise with other babies, and as soon as they could they realised that 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, Meghan and Dan raised their concerns with the GP and were referred to various professionals. In 2022, they had a year filled with appointments, blood tests, physio, speech and language support, phone calls and more referrals, in December 2022, they received the devastating news that their beautiful Alba, so full of sunshine smiles, has Rett Syndrome.
Since then, Meghan and her partner, Dan have done everything in their power to fight for the care that Alba needs and now Alba has also developed seizures, which they are still trying to find medication for to keep her stable.
Throughout all this, it is clear that Meghan and Dan have been the most incredible team and their family have done everything they can for Alba. She is an absolute little star and despite all her battles, remains the most gorgeous ray of sunshine.
At the end of the episode, Meghan shares some exciting news.
Please may I ask that you share this episode, to spread awareness of Rett Syndrome and how we can support parents of children who are disabled, with the language we use and also the way we interact with them. Meg talks a lot about how to do this in the episode.
Thanks so much for sharing and all the support for the podcast. Finally, please follow Meghan @between.two.thorns and go and visit Alba's Go Fund Me page in the link. www.gofundme.com/f/albas-fight-against-rett-syndrome
Lots of love, K x
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