Bushey woman living with rare disease backs calls for better awareness and care
Lack of awareness often leads to misdiagnosis, delayed treatment and a financial and emotional burden on the patient
A woman from Bushey living with a rare disease is calling on healthcare providers and policymakers to better support them in their unique needs.
In the UK, an estimated 3.5 million people live with a rare disease – roughly one in 17 of the population.
Despite this figure, widespread awareness and understanding remain dangerously low.
For Lara Bloom, President and CEO of the Ehlers-Danlos Society, that lack of recognition meant a 13-year wait for diagnosis – a delay that had profound emotional, physical, and psychological consequences.
A campaign called I am number 17, and backed by global pharmaceutical company Takeda is raising awareness of these diseases and the lack of care provisions available to those suffering from them.
Lara said: "At the age of 24, after a 13-year diagnostic odyssey, I was diagnosed with Ehlers-Danlos syndrome.
"That diagnostic odyssey is quite representative of what many people with rare disease go through - ten to 12 years is the norm of kind of being bounced from doctor to doctor, being told it’s in your head or that it’s growing pains."
New research now reveals that 57% of people affected by a rare disease must see three or more doctors before receiving a diagnosis – and 40% say they didn’t even know where to start.
This leads not only to a delay in treatment but to feelings of alienation and emotional distress.
Lara’s experience is not unique. The survey also found that 54% of rare disease patients suffer serious mental health challenges.
Lara said: "You get to a point where enough people are telling you that it’s in your head and there’s nothing wrong, that’s what you believe them. You believe you’re a burden. You believe that you must be going mad.
"We see such an increase in mental health issues, death by suicide, self-harm – all of these things because of this odyssey that people are going through."
Lara was first affected by symptoms at the age of 11. She said she struggled throughout her adolescence with the invisible but debilitating impact of Ehlers-Danlos syndrome (EDS), a group of rare inherited conditions that affect connective tissue.
Today, she lives with the hypermobile type of EDS, but also suffers from immune deficiencies that make infections especially dangerous.
"Just a month or so ago I had a virus the rest of my family had. They were fine in a few days. Mine turned into viral meningitis and I was in hospital for a week," she said. "A cold could turn into pneumonia very quickly."
This vulnerability is compounded by a healthcare system struggling to cope with the complexities of rare diseases. Though there are 13 different types of EDS, only a few are recognised by specialist NHS services.
Lara explained that there are some "fantastic examples of specialised health services in the UK", but that "we have pockets of great examples, not enough to cover the need."
Indeed, the current system often fails to identify the overlapping symptoms of rare conditions.
Lara highlighted how the fragmented nature of care leads to critical delays: "When you go into a primary care setting and you’ve got, let’s say, a dislocating knee, you feel really tired, and you’ve got GI symptoms, they’re not going to piece that together as all the same thing. They’re going to think you’re a hypochondriac, or that it’s hormones, menopause."
This lack of joined-up care is echoed in the data: 34% of people with rare diseases report that their lives now revolve around medical appointments, with nearly a third forced to stop working or reduce their hours.
For some, appointments interfere with school or work every week – and for nearly 1 in 10, every single day.
Financial hardship is another devastating consequence. A staggering 39% of those surveyed say their condition has led to serious debt and struggles.
"There’s such a disparity in care," Lara said. "We’re still living in a time where geography, wealth, gender, race – all of those things determine your quality of life."
To address this, Takeda, the I am number 17 campaign and individuals living with rare diseases like Laura have delivered an open letter to 10 Downing Street. It calls on the government to extend the UK Rare Diseases Framework beyond 2026 and to implement a truly national approach to long-term care and support.
"We really need to increase that education," Lara added. "There really isn’t the framework that’s needed or the funding from the government – and that’s what we’re pushing for in this phase of the campaign."
The call to action is clear: invest in rare disease infrastructure, streamline paediatric-to-adult care transitions, and embed mental health support into long-term treatment pathways.
The Department for Health and Social Care has been approached for a comment.
For more information about rare diseases and the I am number 17 campaign, visit www.iamnumber17.org.uk