People with rare genetic conditions are ‘systematically ignored’ by NHS, report finds | NHS

Millions of people living with rare genetic conditions across the UK are being “systematically ignored” by the NHS and facing inadequate care, a report has found.

Rare genetic diseases, such as Williams syndrome and Duchenne muscular dystrophy, affect more than 3.5 million people in the UK. One in 17 people are affected by a rare disease at some point in their life.

The study, published by the charity Genetic Alliance UK, asked 290 people living with a rare disease about their experiences with the healthcare system.

According to the survey, one in four people had to wait at least three years for a diagnosis despite actively seeking NHS care, while only one in 10 adults had a professional care coordinator to help them manage appointments and follow-ups.

The report also identifies an “access lottery” to treatments, meaning that only 5% of rare diseases have an approved and authorized treatment.

Ali Reed’s daughter Emma suffers from Williams syndrome, which affects around one in 18,000 people in the UK. This disease, caused by a chromosomal problem, can lead to developmental delay in children, mild to moderate learning disabilities, and an increased risk of cardiovascular disease.

Reed said it wasn’t until she was nine months old that medical professionals questioned her development, and it took another year before she was diagnosed.

“During our diagnostic journey, what I found strange was that we had three or four medical professionals who had encountered other children with Williams syndrome, but had not seen it in Emma,” Reed said. “Once you know what Williams syndrome is, it’s not difficult to recognize people who have it because they tend to share similar facial characteristics.”

Emma, ​​who has been seen by the same pediatrician for 13 years, is now preparing to move into adult care. Reed worries about the quality of care her daughter will receive.

“Emma’s pediatrician has been excellent and she has coordinated everything, but soon Emma will move to adult wards where she will be seen by a GP,” Reed said. “Only one in 30 GPs have heard of Williams syndrome, so I fear Emma is not getting the level of care she needs.”

Nick Meade, chief executive of Genetic Alliance UK, said the NHS was in some cases ill-equipped to provide care for people living with rare genetic conditions.

“Overall, the NHS does a great job looking after us when we need it, but this is not true for everyone. In fact, for those of us living in the UK with a rare disease, it can be quite the opposite,” Meade said. “Our health care model is made up of many different care pathways. If your symptoms fit neatly into one of them, then great. This means there will be a defined care pathway for diagnosis and treatment. But these are rigid processes that tend to focus on the most common conditions.”

He added: “They do not have the flexibility to treat much rarer diseases, which are often complex in nature and require the expertise of a range of specialties or services, including those outside the healthcare system. This essentially penalizes people with the ‘wrong’ type of disease and has a seriously detrimental effect on the millions of people in our country living with a rare disease.”

An analysis of the 163 most common rare diseases in the European Orphanet database found that only a quarter (26%) were supported by guidance from the National Institute for Health and Care Excellence. And for 79 of these conditions, for which a commissioner for England could be found, more than half (55%) did not have a specialist service.

The charity recommended that a comprehensive rare disease registry be funded and developed across the UK, alongside further investment in rare genetic disease research.