We raise funds to support children affected by genetic disorders.
There are around 6,000 genetic disorders.
It is estimated that one in 25 children is affected by a genetic disorder. 30,000 babies and children are newly diagnosed in the UK each year.
Some genetic disorders are apparent at birth while others are diagnosed at different stages throughout childhood, and sometimes into adolescence.
Please take a look below to learn more about the children we support and the difference your donations make.
Bianca's story
Bianca is eight years old. She was born with the genetic disorders Pfeiffer syndrome which affects the development of her skull and the bones in her hands and feet. She has had nine surgeries including two operations on her skull to allow her brain to grow. Bianca loves to dance at her ballet class.
Jack's story
Jack is five years old and has a very rare genetic disorder called adenylosuccinate lyase deficiency. He has seizures which can stop him breathing, he is fed through a tube and he can’t walk or talk. Many children like Jack don’t live past their tenth birthday.
Teddy's story
Teddy is ten years old. He was born with a rare genetic disorder called aromatic amino acid decarboxylase deficiency that affects only six children in the UK.
Teddy is fed through a tube in his stomach, uses a wheelchair, can only speak seven words and often has difficulty breathing and sleeping. Despite all his challenges, Teddy is incredibly happy and is always smiling.
Rebecca and Jess's story
Sisters Jess, 11, and Rebecca, 8, have a genetic disorder called oculocutaneous albinism. Their hair is bright white and they have very pale skin, owing to a lack of pigment.
Jess and Rebecca have very limited eyesight and when outside they wear dark glasses because the sun can be very dazzling. They use iPads at school to magnify words and both walk with white canes. The sisters are a great support to each other.
Louie's story
Louie is seven years old. He was born with the life-limiting genetic disorder spinal muscular atrophy with respiratory distress, which affects all the muscles in his body.
Louie is paralysed from the neck down and needs a ventilator to breathe. He can’t swallow or eat food, so receives nutrition through his veins. Louie loves to watch Disney films with his three younger brothers.
Rhys's story
Rhys is two years old and has the genetic disorder Noonan Syndrome. He has spent a third of his life in hospital.
He has had three open heart surgeries, 10 cardiac catheters, bowel surgery and a gastrostomy button fitted to receive nutrition directly into his stomach. Rhys vomits around 40 times a day and was at risk of choking to death every time he travelled in a car.
