The following videos provide an insight into the lives of people affected by rare diseases and some of the issues they have to face in getting a diagnosis and accessing the care and support they need.
Imogen has Myhre syndrome, a genetic condition that affects many functions of the body. The gene that is mutated, SMAD4, is part of an important cell-signalling pathway, which allows cells in the body with communicate to each other. When the communication (signalling) is abnormal, as is the case with the faulty SMAD4 gene in Mhyre syndrome, it affects the development of many body systems – which explains why Imogen has many varied symptoms and features.
Neil has Kallmann syndrome. Kallmann syndrome or congenital hypogonadotropic hypogonadism (CHH) is a congenital hormonal condition, which results in failure to go through puberty or failure to reach puberty fully. It causes infertility and is associated with reduced or complete loss of the sense of smell.
Rachael has Behçet’s disease (also known as Behçet’s syndrome). A rare chronic auto-inflammatory multisystem disorder of unknown cause, typically characterised by recurrent mouth ulcers, genital ulcers, eye inflammation, joint pain and skin lesions. It can cause blindness and can lead to life-threatening complications.
Drew has Common Variable Immune Deficiency (CVID). CVID is a condition that impairs the immune system. People with CVID are highly susceptible to infection.