So I am Jules.....just Jules! And I can't dance, I can't sing, I can't do maths.....BUT that's ok!!! I was honoured to meet the wonderful Elsie and her mum, Michelle, a few years ago. I care so much for this family and so many others that are going through the same. I didn't know what I could to help, BUT then I was asked if I would take part in 'Step up for charity'.

Ehhhhhh what???? Me???? Wee Jules that can't dance!!!!!

Aye Jules... YOU.

So here I am. NEVER MIND THE SLOSH!!!!! We're going all out. Please read on for the words from Elsie's mum Michelle about their journey. I would love your support guys, please help us. Together we can make a difference.

Elsie’s Journey began in November 2014. She was born at 36 weeks, weighing 4 pound 3 ounces. After a few days in special care then a few more on a ward she was discharged from the Maternity Hospital. Exactly a year later we visited our GP. Elsie's eyes were wobbly and she wasn't hitting her ‘milestones’ A referral was made to the Glasgow Children's Hospital. However a few weeks later she was admitted to hospital with a Respiratory Syncytial Virus (RSV) Before we knew it we had a full medical team mesmerised with our little girl.

After many blood tests, skin biopsies, hospital sleepovers and very scary illnesses Elsie was diagnosed with Trichothiodystrophy (TTD) in February 2017. At first we were pleased to have a diagnosis then we were on our own for a long dark time until we found Amy and Friends. We could finally speak. We could say those things you can't say to others. We had a voice. We had a support network.

In a short space of time we as a family were invited to attend the "Amy and Friends" Rare Disease Clinic at Guys and St Thomas's Hospital. For us this was life changing. No funny looks, no rude questions. Not once did we have have to repeat ourselves or feel belittled. An amazing multi disciplinary adventure with no fear or dread. The A team are brilliant, efficient, welcoming, professional and are our family.

Every year we look forward to a hospital visit with a difference. We are very lucky to be part of such an amazing clinic moving forward in the world of Cockayne Syndrome, Trichothiodystrophy and other related illnesses.

Elsie is the most adorable, determined and inquisitive little girl, there are things she can do and things she can't. Nothing stops her. She has a great medical team with wonderful family and friends behind her. She develops at her own pace and that's ok. Our little miss loves books, singing, people, in fact she loves everything! Constantly happy with the most infectious laugh. Everyone who meets her never forgets.

Thank you everyone who supports, shares and cares. We are grateful for all you xxxxx