Metabolic Support UK was inspired by Jennifer Rachel Greene, who was born on 8th December 1978 with a rare Inherited Metabolic Disorder called Cystinosis.
Finding little support and information available following this devastating diagnosis, Jen’s parents, Peter and Lesley Greene – with help from family, friends and the medical profession, registered the charity, initially called Research Trust for Metabolic Diseases in Children (RTMDC) encompassing all Inherited Metabolic Disorders, in November 1981.
Since launching, the charity’s reputation has spread from the UK to Europe and beyond, becoming part of a worldwide collaborative network. It paved the way and opened discussions to encourage research and development of medicines for rare diseases known as Orphan Drugs.
In 1994, Jen’s dad, Peter, was awarded an OBE, and in 1997, the charity joined forces with other patient groups across Europe to form EURORDIS to advocate for the establishment of the Orphan Drug Regulation, which finally passed into European Law in 1999.
Jen’s mum, Lesley, was elected as a founder director of EURORDIS and acted as its President from 2001-2003. She also joined the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency to continue advocating for the promotion of safe and effective drugs for patients with rare and metabolic diseases until her retirement in 2018
Jennifer, although initially given only a short time to live, fought on after a kidney transplant to achieve a university degree and began teacher training in 2005. Cured of cancer twice through outstanding treatment and support from the NHS, she sadly passed away in 2007 aged 28.
Today, Metabolic Support UK is the leading umbrella patient organisation for all Inherited Metabolic Disorders. The aims of the charity remain as true today as in 1981, whilst evolving with the changing landscape of the rare disease community.
The compassionate and dedicated team work hard to:
- Provide patients and families with bespoke support tailored to their needs at all life stages; from point of diagnosis through to young people’s transition into adulthood and beyond.
- Connect families worldwide to reduce isolation and enable them to share experiences.
- Work closely with medical professionals to stay ahead in innovations such as newborn screening and treatments.
- Raise awareness of these conditions amongst the medical, health, social care and teaching professions, as well as the general public.
Metabolic Support UK continues to be committed to its mission of improving the lives of people living with Inherited Metabolic Disorders and their families, keeping Jen’s legacy alive.