The PBC Foundation: positively impacting the lives of all those affected by primary biliary cholangitis
Robert Mitchell-Thain is the CEO of the PBC Foundation, a UK-based patient organisation with global reach, founded by his mother in 1996, following her diagnosis with primary biliary cholangitis (PBC). Here, Robert explains the group’s work, which includes supporting patients, advocating for patients’ unmet needs and engaging in research. Its work is driven by the goal that, one day, everybody will be able to access the care pathway that is right for them
“My mother was a high-flying, shoulder-pad-wearing career woman of the 90s, but when she was first diagnosed with this incurable, little-known disease, she became a recluse.”
Robert’s experience of growing up as the son of someone with primary biliary cholangitis (PBC) gave him a deep insight into the challenges of the community early on. “Right from the beginning, our understanding of the impact of this condition, not only on the patients, but on the family and the structure of the family, and of the social, economic aspects of living with an incurable disease has been incorporated into everything we do.”
One of the many resources the PBC Foundation provides to the community is a helpline that is available 24/7, 365 days a year. People newly diagnosed with PBC typically make a series of calls to it, Robert says. These callers may be “absolutely petrified” because of enduring myths around the mortality of the disease. “There is still, sadly, some out-of-date information on the Internet. You might read that you’ve got five, seven, ten years to live—all of which is out-of-date nonsense which made sense years ago when we understood less about the condition.”
“There’s still fear around PBC, because it’s rare, it’s incurable, it’s progressive. People are scared of liver transplants and of disease progression. Taking the time to answer patients’ questions, particularly about recent care developments, empowers them to live their best life. From there, they come back with the next set of questions when something changes.”
In-person meetings for people affected by PBC have enormous value, Robert says. These are facilitated by the foundation’s invaluable network of volunteers.
“In the local meetings, you meet people who understand how it feels: how it feels to walk through custard, how it feels to have the power pulled. There’s a wonderful dynamic when patients support each other with issues such as feeling guilty for not being who they were before diagnosis.”
Robert explains the “huge power” of these meetings in giving family members a deeper understanding of what their loved ones are going through. “There’s a certain validation that happens when you hear a random stranger say exactly the same words that your wife says to you every day,” he says.
The PBC Foundation hosted an international PBC summit in May 2023. This brought together patient organisations, clinicians, regulators and industry partners from around the world. “What we were trying to do was get everybody in the room—not wearing any hats but bringing their wisdom—to start to put together a white paper that highlights the unmet needs for the PBC community.”
The size and influence of the PBC Foundation enabled it to get sponsorship for grants to bring patient organisations to the summit who couldn’t otherwise come, Robert explains. This ensured that as many patient organisations as possible could advocate for their members. “We invited each of our industry partners to present to the community and answer its questions: What are you working on? What is the next phase? Where’s the patient involvement? What questions are you answering?” The inclusive approach to the design of the summit meant that each organisation had access to the same information and that it could go home to empower patients.
“We have to be proactive in reaching the people who are difficult to reach, to make sure that they have the same access to support. They face the same journey, yet inequity of access can cause more challenges.”
The whole summit was driven by the idea of patient-centricity. This was with good reason, Robert says: “I’ve seen hour-long conversations within clinician-led forums, where patients are trying to explain that fatigue is part of their disease and the clinicians say, ‘Well, we’re not really seeing that.’ And the patients say, ‘Are you asking your patients?’ The answer is, ‘Of course we’re not, because we’re not really seeing that.’”
The patient-centric design of the summit enabled patients to collectively raise their voices and share their concerns. One of the community’s current concerns, Robert says, is around the FDA’s requirement for placebos in clinical trials and how that affects patients. “There are ethical concerns around placebo arms in disease progression trials for PBC, because not only are patients in placebo arms not benefiting but they’re actually getting worse. And by getting worse, their chances of responding to treatment later get worse too.
“It’s about bringing clinical trial and treatment guidelines more up to date with what we know about disease progression and doing that in a patient-centric way, with the data, with the backing of clinicians.”
Looking back on the summit, Robert says: “That the entire community came together with a patient-centric drive has been immensely powerful. We are already working on two academic pieces highlighting the strength of feeling in the community, supported by new and current science.”
There is a hierarchy of unmet needs within PBC, Robert says. The first of these is for all patients to have a timely diagnosis and to receive early treatment.
Another unmet need is around awareness of the symptoms of PBC. Two major symptoms are fatigue and an itch under the skin. But, in Robert’s experience, when patients, who are often middle-aged women, report these invisible symptoms, doctors do not always take them seriously. “We have patients with fatigue who—I kid you not—have been told that they’re pre-menopausal, perimenopausal, menopausal or postmenopausal. Or they’ve been told they’re depressed.”
“The itch has no visible signs at all. So we’ve had patients that have been treated for tactile hallucinations. We’ve had patients treated as self-harmers because they’re breaking the skin with the itch. And we’ve had patients with itch that have gone on to suicide.”
Robert says that there is much for the foundation to do to ensure that specialists in different fields are able to recognise the symptoms of the condition. “PBC is a rare condition and we need to be realistic with our expectations. However, for every single patient that’s missed, there are implications, so it’s our responsibility to get the message out there.”
Beyond that basic need for early diagnosis and treatment is equitable access around the world to second-line therapies and clinical trials, Robert believes.
There is also unmet need around the scientific data on PBC. Most of the existing data is based on studies of middle-aged white women, so there is under-representation of other groups, and Robert would like to see that addressed. “What we’re trying to do is to open the door so that every single patient and around the world has the same access to care pathways,” he says.
Robert points out that many people with PBC have at least one other autoimmune condition, so he sees huge potential in cooperation between patient groups for autoimmune diseases in raising the profile of these conditions and meeting patients’ unmet needs. “It would be really helpful to come together at an autoimmune conference. But my ambition would be an umbrella organisation for autoimmune diseases.”
The PBC Foundation remains committed to helping tackle these unmet needs and to providing support and information to those affected by PBC. “We owe it to every single patient to find them in time and get them on the right care pathway for them,” Robert says. “If we can do that, we’re going to further limit the number of people who need a transplant. If we get things right, we’re going to save on resources that other disease areas are going to need.”
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