Thanks for taking the time to visit my just giving page.

This year I am so excited to be running the London Marathon in October for SWAN UK, a charity very close to my heart ❤ I am also on a journey to become an ultra marathon runner this year with Ultra North 55km (34 miles) and Race to the Castle 100km (62 miles) events in June as well as The Ultra Tour of Edinburgh 57km (35.5 miles) which is 2 weeks after London, eeeeeeeek!! 

I found running 3 years ago and it has become a big part of my life, I have made some fantastic friends and it has kept me sane, I'm not sure how I functioned before running came into my life.

This description is very similar to how I would describe what SWAN UK means to me.  Through SWAN UK me and my family have made so many friends, friends who understand the unique challenges of raising a child/children with a rare/undiagnosed genetic condition and having this support network has been life changing.

I am Mammy to my megabrood, 4 lush little lasses, Edith, 9, Violet, 8 and twins Alba and Nell, 5.  When Violet was a baby she didn’t reach her developmental milestones when expected such as rolling, sitting and pulling to stand. She was referred to a physiotherapist at eleven months old and we were told she had hypermobility.  We took this as the answer to her difficulties and believed with physiotherapy intervention she would ‘catch up’.  When Violet was 28 months old Alba and Nell were born.  By then Violet was also delayed with her speech and language development and learning.  When Nell’s development was also delayed and she also had, like Violet, hypermobility, low muscle tone and episodes of hypoglycaemia, we started to think that their difficulties were part of a bigger picture.

This bigger picture was revealed years later in September 2020, when our girls received a diagnosis of KPTN disorder, a rare genetic neurodevelopmental condition caused by changes in the KPTN gene.  The road to this diagnosis was long and before we found SWAN UK we felt confused and alone thinking we were the only family who didn't know the cause of their child/children's difficulties. We then learned that 6,000 children every year are born with an undiagnosed genetic condition/syndrome without a name and through SWAN UK we connected with many of these families and found our support network.  We now have our answers but the condition is so rare with only 2 others in the UK and around 50 worldwide that we are so grateful to have the continued support of our SWAN UK family.

As well as being a member, I am so proud to be part of the SWAN UK team in my voluntary position of Parent Rep, I love everything about my role but the best bit is organising regular events for our families to meet up, connect and support each other (virtually at the moment 😢) We have a wonderful network of families here in the North East but we desperately need funds in order to continue the work that we do.  Please support my family and other SWAN families, by making a donation if you can as sponsorship of my London Marathon challenge.

xxxx Thanks so much, Rachael xxxx

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