For those of you who know our journey with our eldest child Ruby, you'll know it's been far from straightforward.

From a premature and frankly terrifying birth to 6 months on oxygen, 3 years of being in and out of hospital, 2 bouts of sepsis, growth and developmental delays and countless other medical quirks and needs, it's been quite the ride. Keeping her alive and healthy was our focus, and 2025 felt for the first time like we had her health issues under control, and she was thriving - growing, learning, and happy. And that is still very much the case!

However, in January this year having done some genetic testing (her doctor had a hunch that there may be something 'knitting together' all her symptoms), we received the news that Ruby has a rare genetic condition called Rubinstein-Taybi Syndrome (RTS). The type she has - Type 2 - is the even rarer type, so she is literally 1 in a million. And the doctor's hunch was right, we finally had a diagnosis that made sense of every single challenge she'd experienced to date.

This diagnosis however is just the beginning. RTS is a genetic syndrome that affects development, learning and growth, and every person with RTS is different - the spectrum of severity is incredibly wide, as is the 'cocktail' of medical and developmental challenges that person will face. Some people with RTS need a high level of care throughout their life, while others can make steady progress and work towards independent living with the right therapies and support systems in place.

With all of this in mind, Ruby's progress to date has been quite frankly, astonishing. We have learnt how lucky we are that she's able to communicate verbally, be mobile (albeit with a lot of "CAREFUL" from us), and she seems to be thriving in a mainstream school for now. We are not taking any of this for granted, and she's reminding us to appreciate the here and now and find joy in the smaller moments and milestones.

Due to the huge spectrum of the syndrome, we really don't know what the future holds for her, and what level of continued care and support she might need as she grows in to adulthood. Her journey will undoubtedly take us to many unexpected, challenging, but hugely enriching places, and I know that our lives and outlook as a family will be all the better for it.

Which brings me on to the RTS Support Group and why I'm fundraising. The RTS Support Group is a registered charity funded almost entirely by fundraising and voluntary donations.

It exists to provide support to families and carers of people affected by RTS, raise awareness of RTS amongst the medical community (many medical practitioners are still unaware of the condition), and support research into the cause and effects of RTS. Due to RTS being such a rare condition, it's an uphill battle to fundraise, raise awareness, and ensure families affected get the support they need.

This charity has already been a lifeline for Fin and I in coming to terms with Ruby's diagnosis, and has provided us with a community that we already feel lucky to be part of. It’s going to be an instrumental part of our journey with RTS as a family, and so we want to do everything we can to help the charity to thrive, be able to continue to provide such brilliant support for families and also fund much needed research into the condition.

So, in honour of Ruby’s FAVOURITE activity, I’ll be swimming the equivalent of the English Channel over 10 days in September (21st-30th). 22 miles to be precise, 1,500 lengths of my local pool in total. Who knows, maybe one day I’ll swim the ACTUAL English Channel, but I feel that’s something to aspire to (can I use my two very energetic under-5-year-olds as an excuse for now?).

If you have the means, I would absolutely love for you to donate to this wonderful charity. And in return I’ll send some vaguely entertaining updates on my swimming quest when everyone’s on a post-summer comedown.

Thank you,

Amanda (Ruby’s extremely lucky mum) x