Ellie's story congenital myasthenic syndrome (CMS) - Jeans for Genes

Ellie's story

Ellie is six years old and has congenital myasthenic syndrome (CMS). It’s a rare, incurable genetic neuromuscular disorder that means she can stop breathing at any moment. She can also experience muscle weakness and droopy eyelids.

It wasn’t until Ellie had a respiratory attack that led to a heart attack at six months old that her mum Tracey realised anything was wrong. Ellie went on to have 15 respiratory arrests before she reached 18 months old, and had to have a tracheotomy fitted so that she could be resuscitated quickly.

After many months in hospital Ellie was finally diagnosed with CMS. While there is no cure, there are drugs that can dramatically reduce the number of times those with CMS stop breathing.

Even though Ellie’s parents were told she was unlikely to survive, Ellie has now started reception class in a mainstream school with the help of a one-to-one support worker. As well as her lunch box, Ellie takes an oxygen bottle, ventilator and suction machine to school every day. But she is doing really well, and with her tracheotomy fitted has turned into a real chatterbox.