My name is Tracey and my youngest daughter Ellie is six years old. It wasn’t until Ellie had a respiratory attack that led on to a heart attack at six months old that we realised anything could be wrong. She went on to have 15 respiratory arrests before she reached 18 months old and had to have a tracheotomy fitted so that she can be resuscitated quickly.
After many months in hospital Ellie was finally diagnosed with Congenital Myasthenic Syndrome (CMS) - a rare genetic neuromuscular disorder which means she can stop breathing at any moment and experience muscle weakness and droopy eyelids. Whilst there is no cure, there are drugs that can dramatically reduce the number of times those with CMS can stop breathing.
We were told that Ellie was unlikely to survive, however last September, with a one to one support worker, Ellie started reception class in a mainstream school. She is doing really well and with her tracheotomy fitted has turned into a real chatterbox. It’s not just her lunch box we have to take to school every day, there’s also an oxygen bottle, ventilator and suction machine too!
Thanks to funds raised by Jeans for Genes this year an outreach programme for families affected by this genetic condition will be set up. This service will provide invaluable advice and support to families like mine.
Thank you for the difference you have made to families with CMS by supporting Jeans for Genes this year.
Tracey
Mum and Jeans for Genes supporter