Annabelle’s Challenge is the leading charity providing support to patients and families touched by Vascular Ehlers-Danlos Syndrome (vascular EDS) across the UK and globally. Vascular EDS is a genetic, life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile, it is estimated to affect 740 people in the UK.
The Congenital Anaemia Network is a UK charity that brings together people living with different types of inherited anaemias. It was started by a group of patients and doctors, working together to tackle some of the challenges of having an inherited anaemia – the lack of information and the loneliness of not knowing anyone else with your condition.
Diamond Blackfan Anaemia (DBA) is a rare genetic blood condition where the bone marrow fails to produce enough red blood cells. DBA UK offers support, research and hope to the DBA community by bringing families together to share their experiences, communicate the latest medical information and raise funds to support those with DBA in the UK.
Duchenne Muscular Dystrophy (DMD) is a progressive, muscle wasting, genetic condition affecting mainly boys although a small number of girls also have DMD. It is caused by an error in the gene which creates an important muscle protein called dystrophin. Without dystrophin, muscle cells become weaker and eventually stop working. This means that many parts of the body are affected and the condition is life limiting. The Duchenne Family Suppport Group brings those affected together for mutual support, information sharing and social activities.
Fanconi Anaemia (FA) is a rare, life-limiting genetic condition causing bone marrow failure in children and a predisposition to gynaecological, head and neck cancers, together with other complications both in childhood and in later life. Fanconi Hope promotes awareness and understanding of Fanconi Anaemia among affected families, the medical profession, and the general public, funds research into the condition, helps engender consistent best practice treatment across the UK and provides much-needed support to affected families.
Immunodeficiency UK supports, empowers, educates and provides practical help to people and their families affected by immunodeficiency, a group of over 350 different genetically inherited conditions that affect how the immune system works.
Max Appeal is the UK charity supporting those affected by 22q11.2 Deletion & Duplication syndromes, also known as Di George syndrome and VCFS. Max Appeal provides information and support to those affected, their families and professionals caring for them.
Myotubular & Centronuclear Myopathy are a group of very rare genetic conditions that cause profound muscle weakness and decreased muscle tone from birth. Primarily affecting skeletal muscle, the condition causes severe challenges with sitting, standing, and walking. Additionally, there are breathing and swallowing difficulties making the condition extremely life threatening.
No cure or treatment is available, although there are currently 3 clinical trials in progress, and children with Myotubular myopathy need vigilant nursing care, ventilators to breathe, power wheelchairs to get around and are usually fed via gastrostomy. Otherwise, they are happy, cognitively unaffected and academically bright babies and children.
The Myotubular Trust provides families affected with Myotubular myopathy with vital support and funds research into a treatment or cure.
Pitt-Hopkins syndrome (PTHS) is a rare genetic condition caused by mutations in or deletions of the tcf4 gene. Symptoms can include characteristic facial features, learning difficulties, seizures, episodes of unusual breathing patterns and chronic constipation. Pitt Hopkins UK supports and advocates for both adults and children with PTHS, provides up to reliable, up to date information on the condition, and raises the awareness of Pitt-Hopkins syndrome among health professionals so that more children and adults can be correctly diagnosed faster. The charity also runs a helpline and brings those affected together via an online community, zoom coffee mornings and annual get-togethers.
Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by a deletion, or loss, of the terminal segment of chromosome 22. Also known as chromosome 22q13.3 deletion. Individuals with Phelan-McDermid Syndrome have difficulty communicating; many are non-verbal and have issues around cognitive development and mobility and most have low tone in their limbs. All people diagnosed with PMS need additional care to support their daily lives.
There are over 300 families who are diagnosed with PMS in the UK & Ireland, and almost 3000 registered worldwide. The Phelan-McDermid Syndrome Foundation UK (PMSF UK) supports affected families and carers of people who have Phelan-McDermid Syndrome in the UK & Ireland by providing family days and get-togethers and support for additional therapies, equipment and sibling support.
Autoinflammatory conditions are caused by genetic changes in molecules that are involved in regulating our bodies’ innate immune response which recognises and defends us against viruses, bacteria, and infection. Immune cells target the body’s own healthy tissues by mistake, signalling the body to attack them. This can cause intense episodes of inflammation that result in such symptoms as fever, rash, abdominal issues, skin lesions, mouth ulcers or joint swelling.
There are around 32 different Autoinflammatory conditions and RACC-UK provides information, support and advice to affected individuals and their families, raises awareness and provides data to support research into Autoinflammatory conditions.
The Smith-Magenis Syndrome (SMS) Foundation UK supports families who have children and adults with SMS. Smith-Magenis syndrome is a genetic condition caused by a microdeletion or mutation on chromosome 17. The major features of Smith-Magenis Syndrome (SMS) include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioural problems.
SMS UK provides emotional and practical support, connects families, funds and collaborates in SMS research projects and raises awareness of the condition.
In the UK around 4 in 10,000 pregnancies are affected by Edwards’ syndrome (also known as Trisomy 18) and 2 in 10,000 pregnancies are affected by Patau’s syndrome (also known as Trisomy 13). Children living with these rare genetic conditions have significant developmental delay and learning difficulties. In addition, many are medically vulnerable and have physical health challenges such as heart defects, feeding and breathing difficulties and will require a high level of specialised care.
SOFT UK is a parent-led support organisation that offers information and support to families at all stages of their Trisomy journey. Their range of services includes the provision of vital information and resources, a befriending service and regular events to enable families and children affected to come together and gain peer support. They also raise awareness and contribute to the ‘lived experience’ knowledge of healthcare professionals by working with the NHS on various training programmes.
Ectodermal Dysplasia is not a single condition, but a group of closely related genetic conditions known as the Ectodermal Dysplasias that affect the development or function of the teeth, hair, nails and sweat glands. More than 180 different types of Ectodermal Dysplasia have been identified. Depending on the particular type, an Ectodermal Dysplasia can also affect the skin, the eyes or ears, the lining of the airways, the development of fingers and toes, the nerves and other parts of the body.
The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of people whose lives are affected by Ectodermal Dysplasia (ED). The Ectodermal Dysplasia Society works together with people who have ED, their families, researchers, health and other professionals to develop and share expertise, increase awareness and understanding, and assist with the day-to-day management of ED.
Marfan syndrome is an inherited disorder of the body’s connective tissue that leads to medical problems affecting the heart, eyes and skeleton, requiring treatment to prevent life-threatening complications.
The Marfan Trust undertakes medical research into Marfan syndrome, supports those with the condition and raises much needed awareness
Norrie Disease is a rare X-linked genetic condition causing blindness or severe visual impairment from birth in boys (and even more rarely girls).
Most affected individuals also suffer from progressive hearing loss often starting in early childhood. Other symptoms can include cognitive impairment, developmental delay, autism and compromised mobility. Around 40 affected families are known in the UK and 500 globally although it is likely there are many more people with Norrie Disease who have not been diagnosed.
The Norrie Disease Foundation provides information and support to affected families and leads the way globally in promoting and funding pioneering research into finding a therapy to treat the devastating hearing loss experienced by those with Norrie Disease.
The Sandcastle Trust is a small charity that walks alongside families living with a rare genetic condition providing regular opportunities for family fun and respite. These family respite packages are called ‘Sandcastle Memories’ and their aim is to help families build positive memories, strengthen family relationships, reduce isolation, and improve mental wellbeing and resilience.
Zellweger UK provides information, advocacy, and emotional support to families impacted by the rare metabolic condition – Zellweger Spectrum Disorder (PBD-ZSD), and other closely related peroxisomal disorders such as D-Bifunctional Protein Deficiency (DBPD) and Acyl-CoA Oxidase Deficiency (ACOX). All three of these disorders of the peroxisome are metabolic life-limiting conditions estimated to affected around 1 in every 50,000 children born. The rarity of the conditions can be incredibly isolating and so bringing families together by way of peer support sessions and an annual family conference is a key aspect of Zellweger UK’s work.