The rare disease community — why it’s more than you can imagine

This article has been commissioned by Ipsen. Ipsen also provided editorial content for this article.
DRSC-UK-000740
February 2025

David Montgomery

Senior Medical Director, Ipsen U.K. & Ireland

For people living with rare diseases like primary biliary cholangitis (PBC), finding a community can bridge the isolation they face as a result of their rare experience.

Receiving a rare disease diagnosis can result in profound loneliness. The impact of symptoms, limited access to treatment options, delays in referrals and difficulty finding other people who understand create a feeling of isolation. The resulting emotional toll impacts family, relationships, social life and work. While rare diseases are individually rare, suffering from one is not. According to the UK Government, in 2021, there were 3.5 million people in the UK living with a rare disease.¹

Sharing rare disease experiences can bridge isolation

Every year, Rare Disease Day falls on the last day of February, with the purpose of not only raising awareness but uniting people with rare diseases. The focus of this year’s campaign is: ‘More than you can imagine.’

Gill Rich, 71 from Nottinghamshire, is keen to share how her incurable, rare liver disease PBC — which affects 25,000 people in the UK² — impacts her more than people can imagine. As a result of PBC, a progressive disease that affects the bile ducts in the liver, Gill experiences debilitating fatigue, along with a ‘dreadful itch,’ aching joints and Sjogren’s syndrome, which causes dry eyes and mouth.

The unmet need in PBC

Nine in 10 people living with PBC are women,² who face a double jeopardy of gender inequality and rarity. PBC symptoms and its typical age of diagnosis (35–55) also means it can be mistaken for ageing or the menopause, delaying diagnosis or effective management and leaving many women like Gill feeling unheard and isolated. For rare conditions like PBC, delays in referrals and growing waiting lists for specialist care make it even more challenging for patients to receive the care they need.³

“When I first saw a GP about my symptoms, I was prescribed hormone replacement therapy for the menopause, which didn’t improve my symptoms,” says Gill. “I became very unwell, and it wasn’t until I saw a different GP that I was referred to a specialist who diagnosed my PBC.”

If not managed properly with pharmacological treatment, patients with PBC can struggle with symptoms. Ultimately, the disease can progress, leading to greater complications like irreversible liver damage, the need for a liver transplant and even premature death due to liver failure. Prompt diagnosis is crucial.

Meeting other people with
PBC through my support
group gave me comfort.

Finding support for a rare disease

For someone who feels alone following a rare disease diagnosis, knowing and ‘owning’ their condition — and connecting with others with it — can bring a sense of empowerment and community. Gill wants to spread the word that there is more support out there for people with rare diseases than they might realise at diagnosis:

“I was very worried when I received the diagnosis. My GP and I had never heard of PBC, and the information about it online indicated it’s a death sentence,” says Gill. “Meeting other people with PBC through my support group gave me comfort, as, for the first time, I was seeing people with the disease who looked well. I still worry about the future, but joining this community has completely changed my outlook and enabled me to know my disease better, for example, what normal ALP* levels look like.”

Driven by the patient community

At Ipsen, we believe the voices of everyone living with rare liver diseases matter. We know that when you live with a rare disease, ‘being heard’ and finding people who ‘get you’ can make all the difference. While our ambitions for the community are big, we’ve learned that even small changes, like having the confidence to truly ‘own’ your condition or bringing together patients who have never met anyone with the same condition, are invaluable.

*Alkaline phosphatase (ALP) blood tests are carried out to monitor liver function.

[1] Gov.uk. 2021. UK Rare Diseases Framework.
[2] Webb GJ, et al. 2021. The Epidemiology of UK Autoimmune Liver Disease Varies With Geographic Latitude. Clin Gastroenterol Hepatol. 19(12):2587-2596.
[3] Gov.uk. 2024. Lord Darzi Report – Independent Investigation of the National Health Service in England.