It is not often I post on LinkedIn, and when I do it is almost certainly about my work, but today I am posting about a topic much closer to home, and one that the majority of people have never heard of, but as today is the day to raise awareness it only felt right I do my bit and share.
Our daughter has recently turned two and these first years of her life have been filled with the most beautiful smiles and cuddles that a father could hope for; as I write this she is asleep on my chest before I put her down for the night (read: twenty minutes). But whilst that is the norm for most parents, what is not the norm is having a child who has spent around two months of those two years in hospital.
Without getting into the details of those visits, it transpired that our daughter has chronic obstructive sleep apnea, and in discovering that, the doctors noticed several other characteristics that led them to believe there may be an underlying genetic condition. With the incredible work the NHS can do now with genetic testing a diagnosis was made.
Rubinstein-Taybi Syndrome.
Our Geneticist tells us that to them it is common enough, but to everyone else it is almost certainly unheard of. Only affecting 1 in between 100,000 - 125,000 it is quite rare. With it comes the potential for lifelong differences to a typical experience such as medical issues, intellectual challenges, physical differences. But with it also comes a full head of beautiful long brown hair, a smile that will melt your heart and have you smiling too, and - between tantrums - the bounciest, happiest little girl you could want to be around.
Today, World RTS Day, I encourage you to find out a little more about this little known genetic condition via the infographics I have attached and any links I find to put in the comments.
I have also included a poem by my wife, Gemma Smith, that I think beautifully speaks to our experience so far and I think will resonate with anyone that is close to someone with any form of difference that sees your day to day lived experience differ to that of a typical experience.
Thank you for reading.
