Patient Experience Videos

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.

Our family: living with a rare condition

Meet Clare, Garry and their identical twins, Pip and Alix, who tell their story of what it is like to live with the rare condition DDX3X syndrome; a diagnosis which they received through the Deciphering Developmental Disorders (DDD) Project 3 years ago.


Tom shares his experience of living with cystic fibrosis, a genetic life limiting condition. Cystic fibrosis causes the body to produce thick mucus, which affects the lungs and digestive system in particular.


Luke shares his experience of living with severe Haemophilia B, a rare bleeding disorder that affects the ability for his blood to clot. This means Luke is susceptible to severe internal bleeding, which can lead to permanent joint damage.


Zoe shares her experience of living with Cushing’s disease, a rare condition that develops when your body produces too much of the hormone cortisol. The commonest cause of spontaneous Cushing’s disease is a small benign tumour in the pituitary gland. Symptoms usually develop gradually and so the diagnosis may not be clear for some time.


Ellie and Molly are twins. Like many 18 month-olds, they love playing with each other and with their parents Kat and Andy. Unlike most toddlers, however, Ellie has cystinosis, a rare genetic condition which is diagnosed early in childhood, usually before the age of two. As well as problems with the kidneys and the eyes, later it can affect the pancreas (causing diabetes), lead to an underactive thyroid, and cause muscle wasting. There are other organs and systems which can sometimes be involved. The symptoms and their severity will vary from person to person.


Lucy has Primary Ciliary Dyskinesia (PCD), an inherited, relatively rare condition associated with an abnormality of cilia (cilia are the microscopic hairs which beat in the airways to sweep secretions containing bacteria and particles out of the lungs, nasal passage and ears). PCD may affect the lungs, nose, sinuses, ears and fertility. The condition involves recurrent infections in the nose, ears, sinuses and lungs and if untreated can lead to a form of lung damage known as ‘bronchiectasis’.


Rebecca has Ehlers-Danlos Syndrome (EDS) Type 3, also known as Hypermobile EDS. EDS is the name for a group of rare inherited conditions that affect connective tissue. These provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. There are several different types of EDS that may share some symptoms, including: an increased range of joint movement (joint hypermobility); stretchy skin; fragile skin that breaks or bruises easily. The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Sometimes the faulty gene isn’t inherited, but occurs in the person for the first time. EDS can affect people in different ways. For some the condition is relatively mild, while for others their symptoms can have a significant impact on their life. Some of the rare severe types can be life-threatening.


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.

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