Our beautiful daughter Eilidh was born with a very rare (4 in a million) genetic condition, Rubinstein-Taybi Syndrome (RTS). RTS affects Eilidh's development in many ways, meaning she has a lot of input from various health professionals, although the rarity of it means that most of them know little or nothing about the condition, so we're all on a learning curve together!

Eilidh has Rubinstein-Taybi Syndrome, but it in no way defines who she is. She is non-verbal, although we hope one day she will learn to speak, but we are able to communicate with her using Makaton signing, and she understands much of what we say to her. She enjoys her pre-school nursery class and is very popular with staff, her peers and other children in the school. Eilidh has global developmental delay, although she doesn't let that prevent her from trying new things, and is constantly surprising & delighting us with some new found skill! 

We're so blessed to have Eilidh in our lives, she's an absolute joy to have around and her 2 brothers adore her. We're lucky and thankful that she is a healthy, happy, smiley wee girl, who brings sunshine into everyone's life that meets her.

The RTS UK group has been an invaluable lifeline for us as a family, providing us with information and connecting us with other RTS families, some of whom we actually met when we attended the RTS International Conference in Birmingham in 2016. We were also lucky enough to have a meeting with the world expert in RTS - Professor Raoul Hennekam from the Netherlands. The RTS UK group was only able to organise such a large event thanks to public donations.

As with many 'syndromes' there is a wide scale on which those with RTS are placed. Eilidh seems to be on the lower end, having few health issues, but many of those diagnosed with RTS are affected by more serious problems. Some have multiple hospital visits, often for surgery. Most, including Eilidh, have regular appointments to monitor growth and feeding, yearly eye and hearing evaluations, and evaluation for cardiac, dental, and renal abnormalities. Behavioral therapy for many, and special education are a major consideration for most.

RTS UK is a charity based in England, set up to provide help and support to families affected by RTS. Membership is open to individuals with RTS and their parents/carers, and is free of charge. Regular get-togethers and family weekends feature among the group’s activities, and provide families an opportunity to share experiences and friendship. Their twice yearly newsletter ensures that families are kept up to date with current information, events, information and news from other families etc. All of this is financed by voluntary donations and fund-raising.

This is why I want to do something to help them, so I am setting myself the challenge of completing the Nairnshire, a 30 mile (13 running, 17 road cycling) sponsored duathlon, on Sunday 28th May 2017.

Thanks for taking the time to visit my JustGiving page, for reading my essay and, most of all, for donating to a fantastic charity!

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