Skye's story Rett syndrome Genetic Disorder - Jeans for Genes

Skye's story

Seven-year-old Skye has Rett syndrome, a genetic disorder that causes multiple and profound physical and learning disabilities. Around her first birthday she began to lose skills she had learned. Her parents noticed she had stopped being able to communicate verbally or grasp objects. She then lost the ability to swallow. Skye is now wheelchair-bound and fed through a gastronomy tube. She also suffers from seizures.

When Skye was born she seemed perfectly healthy, but when she started to regress in her development she was given tests for 20 conditions to try and determine what the cause was. Mum Emma suspected Rett syndrome straight away, and when Skye was 15 months old a paediatrician confirmed her fears.

‘It was devastating,’ says Emma. ‘It was a big shock. I went through a lot of emotions. I wanted to run away.’

Rett syndrome is a genetic disorder that affects approximately 1 in 12,000 females (it is rarely seen in boys). It leads to multiple physical and learning disabilities and means Skye will be totally reliant on others for support throughout her life.

Although present at birth, Rett syndrome is often undetected until this kind of major regression occurs. While Emma didn’t spot there was anything wrong in the early months, Skye always had problems feeding and regurgitated her milk. When she was eventually diagnosed, Skye could still chew food, but she soon lost her swallow reflex and started to choke and aspirate on food. After four months of discomfort, regularly having her airways suctioned, doctors at Great Ormond Street Hospital fitted a gastronomy tube.

The main challenge today for Emma is to make sure Skye maintains a steady weight. At seven years old she weighs just 17kg. She takes epilepsy medication for the seizures and suffers from scoliosis of the spine. If her scoliosis gets worse she will need an operation to stop her organs and lungs becoming restricted.

Skye could live until her 30s, but many girls with Rett syndrome don’t make it into their teenage years as colds and pneumonia can be too hard to fight off. Seizures can also cause sudden death.

Skye attends the special needs school Henry Tyndale where she goes swimming, uses a sensory room, paints and cooks. She can communicate through a Tobii Eye Gaze machine, and Emma loves to see her other two children playing next to Skye, kissing and cuddling her.