I, along with a team of equally crazy but lovely friends, am going to tackle the Loch Ness Beast Race (http://www.beastrace.co.uk/loch-ness-event.html) on 1st September this year, to raise much needed funds for the Rubinstein-Taybi Support group.

With a nod to one of the main characteristics of RTS, I have called our wee team 'Thumbs Up!'.

My beautiful 6 year old daughter Eilidh was born with Rubinstein-Taybi Syndrome. RTS is a specific pattern of physical features (including wide or angulated thumbs) and developmental disabilities, and the result of a chromosomal abnormality, which occurs very early on in a baby’s development in the womb. RTS is a very rare condition; around 4 in a million babies are affected by it, meaning most medical professionals know little or nothing about it, so the parents become the 'experts' about, and for, their child.

Although Eilidh has RTS, it by no means defines who she is. Eilidh is non-verbal so we use Makaton signing and a picture communication system (PECS) with her to help provide the support and assistance she needs to understand her environment. She attends a local pre-school nursery which she loves, and is very popular with both the staff and the other kids that come into contact with her, brightening everyone's day with her sunny smile and happy disposition.

We are very lucky at the moment to have a wonderful team of professionals, including educational staff, supporting and monitoring Eilidh's needs and progress, assisting her in reaching her full potential. However, I know how easily this can change, usually due to financial pressures on local councils and the NHS. 

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, and offers support to families and carers of those affected by RTS and also aims to help raise awareness of RTS among the medical community and the general population. The group has been an invaluable lifeline for us as, 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.

Membership of the charity 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 fundraising - hence the reason I want to help them out.

This is the 3rd year in a row that I have set myself the challenge of attempting something 'different' to raise funds for RTS UK. I think "a leg-numbing 10k along the banks of Loch Ness, through dense forest, undergrowth, heather and bog, on rough dirt tracks and of course into Loch Ness itself...then add the obstacles!" is about as far out of my comfort zone as I could get!!

Thanks so much for taking the time to visit my JustGiving page and for reading my essay! I really hope you can spare a few pounds for a small charity that does amazing work for such a worthy cause.

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