Meet Elsie. She is my cousins daughter, but more importantly an amazing, cheerful little girl. She suffers from an extremely rare genetic neuromuscular condition called Spinal Muscular Atrophy (Type II). This means that Elsie will never be able to walk and her muscles will gradually become weaker, eventually wasting due to lack of use. I'll let my cousin tell you her story...

Elsie's diagnosis did not come until she was 18 months old; this is due to the complex nature of her condition. As a baby, Elsie met all of the milestones that you would expect her to meet. She sat up, crawled, stood up and began to take her first steps all before her first birthday. Unfortunately, at around 11 months, we noticed that Elsie's movements were regressing and decided to seek medical advice. Seven months later, after a plethora of tests and medical appointments, we received the diagnosis.

SMA is a severe, degenerative disease which will, in time, affect the neck, arm, shoulder, hands and most importantly her ability to eat, swallow and breathe. More information about this condition can be found at www.smasupportuk.org.uk A revolutionary new treatment has been approved in America (Spinraza), and if approved by the NHS, it is unlikely to be available until 2019. Unfortunately, as Elsie grows, her muscles will deteriorate so accessing this treatment sooner is vital! https://www.fda.gov/newsevents/newsroom/pressannou...This would improve Elsie’s chances of having a healthier life without the need for support with breathing.