What is it like to have broken more than 30 bones in your body by the age of ten? How does it feel to have walked as a young child and now be confined to a wheelchair?

Watch our 4 minute films to see extraordinary children tell their stories about living with genetic disorders.

skye’S STORY

Meet Skye. Skye has Rett syndrome, a condition caused by a faulty gene that’s robbing her of her ability to walk, feed herself or even speak. By pulling on your jeans on Jeans for Genes Day, you could fund a special machine that will enable Skye to communicate with her eyes.

Alfie’s story

Alfie, aged 14, was born with chronic granulomatous disorder (CGD), a rare genetic blood condition that stops his immune system working properly, causing him repeated bouts of serious infection often resulting in pneumonia and abscesses of the skin, tissues and organs.


Ashley has Treacher Collins syndrome meaning he was born without a jaw, cheekbones and ears. Ashley shows us how he gets around the daily challenges that his symptoms present and how he deals with the bullying that he has experienced as a result.


Imagine having to spend 1.5 hours every morning just to take medicine to keep you healthy.Ryan actively chooses activities that help to alleviate his symptoms and prolong his life, from playing football to playing the trumpet. Learn what precautions Ryan has to take to keep his Cystic Fibrosis under control.


Luke’s mum has Huntington’s Disease and he has a 50% chance of inheriting it from her. Will he take the test when he reaches 18 to find out if he has the faulty gene; Luke’s Story shows what it’s like for him to be grappling with such complex decisions and what impact his mum’s condition has on his life.

Tamilore’S STORY

10 year old Tamilore has Sickle Cell Anaemia and often experiences debilitating pain. His limited physical health has a knock on effect on his education, hobbies and acceptance by others. Learn about the biology behind Sickle Cell Anaemia and how Tamilore copes with his condition. .

Carys and George’s story

Meet 13 year old George and his 10 year old sister Carys. Learn what life is like for them both living with Achondroplasia (sometimes referred to as restricted growth or dwarfism).  In this film, they explain what living with the condition means and how it affects them.

MAX’S Story

Max has Hypohidrotic Ectodermal Dysplasia (HED), a condition that means he cannot sweat, has no teeth and very little hair.  In this film, Max explains what living with the condition means for him and how it affects his life.

tom’S Story

Tom has Cockayne syndrome, a rare premature ageing condition.  In this film, his sister Ellie explains what living with the condition means for him and how it affects her too.

Tiana and Star’s story

Sisters Tiana and Star have, between them, broken 40 bones.  They have osteogenesis imperfecta or brittle bone disease but as you’ll see, it doesn’t stop them enjoying lif

connor’s Story

When Connor was younger he used to be able to walk. Here, he shares what life is like with Duchenne muscular dystrophy.

pamela’s story

Pamela has Sickle Cell Anaemia, an inherited blood disorder which means her blood cells are sickle shaped making it difficult for them to circulate around the body. Hear what she has to say about living with the intense pain that can strike at any time, anywhere in her body and the affect this pain has on her daily life.