Rare diseases don’t often get the attention they deserve in the halls of Westminster, even though they’re collectively common. Baroness Nicola Blackwood is an exception – one who speaks from personal experience.
One of the youngest members of the House of Lords and a former Conservative MP for Oxford West and Abingdon, 42-year-old Blackwood has Ehler’s-Danlos syndrome, which can cause heart problems, chronic migraines and severe joint and muscle pain. It took 30 years for Blackwood to be correctly diagnosed, with the peer receiving the news in 2013.
“I felt strongly that I had to hide being sick for years because I was undiagnosed,” she says. “How do you explain to someone that you have a condition that fluctuates, which you or doctors cannot understand and affects you all the time, but you can’t describe because it doesn’t have a name?”
A key moment occurred in 2019, when she fainted at the despatch box. This had its upsides, helping to shine a light on her condition and highlighting that many others live with uncommon diseases, too.
For many people with a rare disease, it’s hard … to explain the impact on their daily lives
“I’ve worked hard to communicate the issues, because for many people with a rare disease, it’s hard for them to explain the impact on their daily lives,” Blackwood explains.
For many years, Blackwood’s condition affected friendships, relationships and work, she says.
“It wasn’t until I had a diagnosis that I was confident to go out publicly and say this is who I actually was,” she says. “There were two Nicolas. The ‘well’ Nicola, who was pretending that I was this healthy, energetic person. Then there was the person who I actually was, who was quite ill. When I was sick I closed the doors of my flat and I shut the curtains.”
A common problem
Blackwood isn’t alone. One in 17 people in the UK suffer from a rare disease: more than 3.5 million. On average it takes between four and seven years to diagnose a condition, but for some it takes much longer. Nearly 6,000 children are born each year with a syndrome without a name.
It’s challenging for people with rare diseases to receive diagnoses. Now, with the tremendous pressure on the health system, there’ll be a tendency to focus on obvious conditions like cancer, diabetes, heart disease or strokes, she says.
“I don’t want the treatment and awareness of rare diseases to go backwards and for it to become more difficult again for patients to access the services they need,” she stresses.
While there has been an increase in political awareness at the leadership level, that doesn’t mean there’s capacity in the health system, she warns.
“There is a huge risk that impetus will get lost with the pressures that are on the NHS. Rare disease patients could suffer the most. We need a call to action to make sure this doesn’t happen.”
The global pandemic has been a double-edged sword. It’s sucked up resources, meaning post-Covid catch-up will likely focus on the diseases that are easiest to treat. At the same time, the healthcare system’s ability to innovate to tackle the virus has shown the general public and the healthcare profession what can really be achieved in tackling novel diseases at speed.
“One thing that we’ve learnt over the past 18 months is that there’s been huge public support for medical research and for some of the requirements for this, such as health data sharing. We can now do huge clinical trials at pace and scale, safely and ethically, and have seen that UK regulators are some of the best in the world,” says Blackwood. This should be translated effectively into non-Covid trials, she says, ensuring we can find both diagnostics and therapeutic treatments for patients with rare diseases.
In the genes
Covid-19 shone a spotlight on genomics, the study and mapping of genetics. The UK has now uploaded more than 1 million genome sequences of SARS-CoV-2, nearly a quarter of all sequences published globally. This provides a better understanding of how the virus evolves and informs the global pandemic response, with implications for rare diseases.
“The genomics ability here in the UK is extraordinary; we say we are world leading in many things but in genomics we are right at the front of discovery,” Blackwood says. “What’s exciting is that we don’t only have the scientific capability, we have the infrastructure and research, innovation and clinical capability within our medical teams across the country, and we have political support.”
Genomics is always supported in budgets or health funding, Blackwood says, “because it’s recognised for its transformational potential. It’s not just theoretical, it’s being translated into patient outcomes on the ground. This will be able to deliver for rare disease patients in the future.”
Blackwood is the chair of Genomics England, an organisation set up to deliver the 100,000 Genomes Project, which sequenced the genetic codes of 85,000 NHS patients affected by rare diseases.
For the first time ever globally, whole genome sequencing was recently used in a healthcare system and applied to large numbers of patients with rare diseases. This can deliver life-changing results – one in four participants with rare diseases received a diagnosis for the first time.
Patients without a diagnosis after six months or who have experienced repeated referrals without a diagnosis should be offered full genome sequencing, Blackwood says.
“Already many rare diseases are eligible for whole genome sequencing in the NHS through the Genomics Medicine Service – our goal is to extend this to all rare diseases as soon as possible,” she says. “This is going to be transformational for early diagnosis, directing patients towards precision therapies.”
In the UK government’s autumn spending review, money was allocated for a national new-born screening programme. A pilot will use genome sequencing to detect rare diseases in 100,000 babies, allowing families to detect conditions early.
“We are at the start. This has enormous potential for cutting the diagnostic odyssey for the very sickest of children. Too often they aren’t supported with the care they need because clinicians simply do not have the medical insights. That is why this programme has incredible potential,” explains the peer.
Seeking solutions
Blackwood is concerned about the price of new treatments for rare diseases; for instance, many gene therapies are extremely expensive. They’re also slow to be approved. This creates issues for their use in the NHS.
“The problem is yet to be solved,” the baroness says. She points to a pilot model for tackling antimicrobial resistance, or AMR, under which new drugs will be paid for by the world’s first ‘subscription-style’ payment model. This pays companies upfront for access to their antibiotic based on a product’s value to the NHS, rather than how much is used.
Learning the lessons of the pilot and being open to innovative funding models also holds potential for rare disease treatments.
“There are creative ways to think about solving the problem. We need to make sure there are still incentives in the market for companies to make the drugs. We aren’t there yet, but you can always find a solution if you look hard enough,” Blackwood concludes.
Rare diseases don’t often get the attention they deserve in the halls of Westminster, even though they’re collectively common. Baroness Nicola Blackwood is an exception – one who speaks from personal experience.
One of the youngest members of the House of Lords and a former Conservative MP for Oxford West and Abingdon, 42-year-old Blackwood has Ehler’s-Danlos syndrome, which can cause heart problems, chronic migraines and severe joint and muscle pain. It took 30 years for Blackwood to be correctly diagnosed, with the peer receiving the news in 2013.
“I felt strongly that I had to hide being sick for years because I was undiagnosed,” she says. “How do you explain to someone that you have a condition that fluctuates, which you or doctors cannot understand and affects you all the time, but you can’t describe because it doesn’t have a name?”
