This is our daughter Elsie Katie Novell. Elsie 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.
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.
We are currently going through the DFG process to have our home adapted in order to provide Elsie with the best quality of care. This will significantly improve Elsie's accessibility at home which will involve installing a wet room, first floor lift, hoists, special bath and storage for all of her equipment. We are able to access £30,000 through this scheme but have been told that the adaptations will cost double this amount. We are trying to raise £30,000 to make up the difference.
The support we have received so far has far exceeded our expectations and we have been overwhelmed by the continued effort people have made to help us.
If you think you can help fundraise in anyway or would simply like to offer your support at events please contact us through thus page.
Thank you to everybody for their continued support.Chris and Charlotte Novell (Team Elsie)