A RESIDENT in Malmesbury is hoping to raise awareness of her rare and debilitating disease.
Dr Lisa Tweedie, 49, was diagnosed with Ehlers Danlos Syndrome (EDS) at the age of 40, a disease which causes problems with collagen and therefore affects all parts of the body.
It includes a complex group of rare disorders caused by changes in genes that weaken the connective tissues.
Lisa subsequently lives with chronic muscle pain around her joints as they are doing the work of ligaments.
As a result, she has frequently collapsed, causing multiple broken bones and concussions over the years that have left her bed-ridden for months at a time.
Lisa, who currently has four medical consultants, says EDS is complex and often undetected and undiagnosed due to lack of awareness, both from sufferers and doctors.
“It’s a condition which there really isn’t enough public information about,” she said.
“I self-diagnosed the first time but it was hard to get the diagnosis from a doctor.
“First doctor I saw about it laughed at me, then the second referred me to Bath and I got diagnosed along with a second opinion.”
Around one in 20,000 are diagnosed with EDS in the UK, while the figure is about one in 10,000 in the USA. It is thought prevalence is actually around one in 5000, meaning a significant proportion of people in the UK are going undiagnosed.
Lisa says this is a particular issue for women, as having the disease can bring about complications during childbirth.
“It’s really dangerous to have a pregnancy and not realise you have the disease,” she said.
“I had three, probably quite dangerous, deliveries as result, without knowing.”
Lisa wrote to her local MP, James Gray, urging him to speak out about the disease.
He responded saying he welcomed the government’s Strategy for Rare Diseases, which he says commits to ensuring people living with a rare disease have access to “the best evidence-based care and treatment”.
Lisa said she was pleased with the detail of his response.
She also welcomed the Department of Health’s response to a petition she signed, calling for extra funding into EDS research and awareness raising.
The department’s statement said: “The complexity of the syndrome and the difficulty in diagnosing the milder forms of the condition means that an accurate estimate of the number of affected individuals is difficult.
“The government is committed to improving the lives of patients and their families affected by rare diseases including EDS.
“The UK continues to be at the forefront of research into rare diseases and 100,000 Genomes Project is actively accelerating progress in the understanding of the genetic basis of rare diseases.
“The National Institute of Health Research (NIHR) has significantly invested in rare diseases research and funds a variety of initiatives to support the development of new therapies.”