Genetic disorders
Genetic disorders are rare but together they affect 1 in 25 children born in the UK - that's more than 30,000 babies each year.
Genetic disorders are caused by an alteration in DNA. This may mean that either a gene or several genes are missing, repeated or in the wrong order. Altered genes can affect a child's senses, movement, ability to learn or appearance. Here are some examples of children affected by genetic disorders.
Cockayne Syndrome
Tom is 5 years old and has a premature ageing condition called Cockayne Syndrome. Over the coming years, Tom will lose his sight, hearing, speech and mobility. Watch Tom's sister Ellie tell his story.
Brittle Bone Disease
Everyone gets a few bumps and bruises when they’re younger - it’s just part of growing up. Tiana and Star are sisters aged 10 and 7 years old. Between them, they have so far broken more than 40 bones in their fragile bodies. Watch these amazing girls tell their story.
Sickle Cell Anaemia
Pamela is living with Sickle Cell Anaemia, an inherited blood disorder that causes red blood cells to become sickle or crescent shaped. This causes bouts of intense pain that can strike anywhere in her body at any time.
Spinal Muscular Atrophy
Eleri is 7 years old and has Spinal Muscular Atropy. This genetic disorder affects the nerve cells in her spine so she can't use her muscles causing them to waste away. She needs a specialised wheelchair to help her maintain her independence.
Hypohidrotic Ectodermal Dysplasia
Max is 6 years old and has Hypohidrotic Ectodermal Dysplsia. He has very little hair, no teeth and no sweat glands. As Max cannot sweat, he often has fevers when he is ill. Max needs to take a lot of care when the weather is warm and when he plays sport to ensure that he does not overheat. Watch Max tell his story.
Duchenne Muscular Dystrophy
Connor is 16 years old and has Duchenne Muscular Dystrophy. It causes progressive muscle weakness and starts to affect boys when they are just toddlers. Connor used to be able to walk but now he is permanently confined to a wheelchair. Watch Connor tell his story.
Congenital Myyasthenic Syndrome
Ellie is 5 years old and has Congenital Myyasthenic Syndrome. Ellie had hundreds of respiratory arrests and 4 cardiac arrests before she was 15 months old. In the past, Ellie has been ventilator dependent and she still has a tracheotomy in place today.
Huntington's Disease
Aimee is 16 and is the sole carer for her mum who has Huntington's Disease (HD). HD is an inherited, degenerative neurological disease which causes involuntary movements, memory loss and mental health problems. She also has a 50% chance of developing this genetic condition herself.
Chromosome Deletion Disorder
Faith is 2 years old and has a chromosome deletion. It’s a very rare genetic condition which means she has developmental delay and can’t walk yet because her muscles aren’t strong enough. She finds it difficult to swallow food and has to wear a hearing aid.
Primary Ciliary Dyskinesia
Euan and his brother Gregor both have the condition PCD. It means that mucus collects in their lungs and their airways, making them very prone to infections. They need a range of regular medication and physiotherapy every day to remove the mucus.