Ashley has Treacher Collins syndrome meaning he was born without a jaw, cheekbones and ears.
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.
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?
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.
Alfie, aged 14, was born with chronic granulomatous disorder, a rare genetic blood condition that stops his immune system working properly.
Imagine having to spend 1.5 hours every morning just to take medicine to keep you healthy. Learn what precautions Ryan has to take to keep his Cystic Fibrosis under control.
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).
Max has Hypohidrotic Ectodermal Dysplasia (HED), a condition that means he cannot sweat, has no teeth and very little hair.
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.
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 life.
When Connor was younger he used to be able to walk. Here, he shares what life is like with Duchenne muscular dystrophy.
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.
Cameron is 5 years old. He was born with the genetic disorder Norrie Disease. This means he is blind. He is also deaf in his right ear and may lose his hearing completely as he grows older. He has autism, learning difficulties and hasn’t learned to speak yet.
Freddie is 15 months old and has an extremely rare genetic disorder called Trichothiodystrophy (TTD) which affects one child in a million. He was born very prematurely at 28 weeks, weighing just 2lb 5oz. He has many complex health problems.
Faith, 11, has Kleefstra syndrome, a rare genetic disorder which means she has epilepsy, delayed physical and intellectual development. She will need lifelong support.
Isabelle, 3, has 1pq36deletion syndrome, a rare genetic disorder which means she suffers from seizures, cannot speak and has delayed physical and intellectual development.
Timothy has mitochondrial disease. He was born healthy, developed normally and met his milestones until the age of four when he first showed signs of a weakness in his hands. His muscle strength and control has declined since then as the genetic disorder has progressed.
Elvi has rhizomelic chondrodysplasia punctata, which means that at 15 years of age she has the mental age of a two year old.
Sophie has 22q11.2 deletion syndrome which causes heart defects, learning difficulties, cleft palate and many more health issues.
Four year old Gabrielius suffers with the genetic disorder Recessive Dystrophic Epidermolysis Bullosa. This means when his skin comes into contact it blisters
Four year old Freddie is living with the genetic disorder achondroplasia, one of over 600 forms of dwarfism
Four year old Freya has a life limiting genetic disorder called Cockayne Syndrome and she is unlikely to live past the age of five
Shana, 21, has Pitt Hopkins syndrome, a condition which is characterised by developmental delay, recurrent seizures, gastrointestinal issues, lack of speech, and distinctive facial features
Five year old Eddison has the genetic disorder xeroderma pigmentosum that makes his skin extremely sensitive to UV rays during the day
Seven year old Josh has Norrie disease, a genetic disorder that has caused him to be blind from birth as well as him currently losing his hearing
Aimee is 12 and has Haywells Syndrome a genetic disorder that is classified in the group of Ectodermal Dysplasias.
Angel and Moses have Albinism a genetic disorder characterised by the absence of pigment in the skin, hair and nails.
Twins Vanika and Vanshika are 13 and have the genetic disorder ataxia-telangiectasia.
Thee year old James has Sotos syndrome that causes overgrowth and developmental disorder. He is currently as big as a child twice his age.
Natasha aged 13 has Kniest syndrome, one of the rarest forms of dwarfism.
Four year old Tayen has the genetic disorder Neurofibromatosis type 1 (NF1).
At just 3 days old Theo was diagnosed with the genetic disorder CHARGE syndrome.
Seven-year-old Skye has Rett syndrome, a genetic disorder that causes multiple and profound physical and learning disabilities.
Nine-year-old identical twins Sam and Alex have the genetic disorder spinal muscular atrophy (SMA) type 2.
13-year-old Tanish has the genetic skin condition called ichthyosis. This painful skin condition affects one in 100,000 people.
Eight-year-old Maisy was born with the genetic disorder recessive dystrophic epidermolysis bullosa (EB), a painful skin condition that makes the skin very fragile.
Five-year-old Isabella was born with the rare and fatal genetic disorder Tay-Sachs disease. Most children with the condition die between three and five years of age.
Four-year-old Pronoy was born with a rare genetic condition called Phelan-McDermid syndrome (PMS). This affects his speech, intellectual development and mobility.
Six-year-old Billy was born with a rare genetic condition called Apert syndrome, a craniofacial disorder caused by a defect to chromosome 10.
Nine-year-old Evie was born with the rare genetic condition Cri du Chat syndrome. She has no speech, low muscle tone and her developmental progression is that of a 9–12-month-old baby.
Four-year-old Mason was born with a rare genetic condition called Sotos syndrome. This is characterised by excessive growth in childhood, low muscle tone and communication difficulties.
Twins Hannah and Katie are seven years old. When they were four they were diagnosed with the very rare and complex genetic condition Alstrӧm syndrome.
Taylor is five and lives in Berkshire. She has a severe form of the genetic condition Cockayne syndrome (CS), a premature ageing disorder which leads to a shortened life expectancy.
Eight-year-old Kyran lives in County Durham. In March 2011 he was diagnosed with Batten disease, a genetic condition for which there is no cure. Life expectancy for people with Batten disease is between 5 and 30 years old.
Hannah is 14 and lives in Cumbria. She was born with the genetic condition neurofibromatosis type 1 (NF1), which can cause tumours to form around the body.
Eight-year-old Cameron has haemophilia, a genetic disease in which your blood doesn’t clot properly. He has to be very careful not to injure himself and receives regular injections of blood clotting factor.
Zoe is 15 and lives in Hertfordshire. She was born with cystic fibrosis (CF), a condition that causes sticky mucus to clog the lungs and digestive system, making it difficult to breathe and digest food.
Millie is five and has a rare condition called Prader-Willi syndrome (PWS). It’s a genetic disorder that causes learning difficulties, problems with motor skills and a vigorous appetite.
Emma and her sons Arie (15) and Louis (9) have long QT syndrome (LQTS). LQTS can cause palpitations, fainting and even sudden death, so those affected need to avoid loud noises and rough environment.
Ellie is six years old and has 4H syndrome. It’s an incredibly rare hereditary condition that causes ataxia, a neurological problem that makes you lose control of your body.
Grace is 10 and has Rett syndrome, a rare neurological genetic disorder affecting mainly females. Grace, like most girls affected, developed normally between 6 and 18 months, but then began to lose speech and hand skills she had learned.
Jack is 19 and has Down’s syndrome, a chromosomal condition caused by having 47 chromosomes instead of 46.
Six-year-old Annabelle has a rare genetic skin condition called ichthyosis, which requires her skin to be creamed and bandaged several times a day.
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.
Callum is five years old and has an extremely rare condition called Nicolaides-Baraitser syndrome (NBS). The illness is characterised by mental retardation and absent or limited speech.
