When Lucinda Andrews learnt that her newborn son was only the 16th person in the world known to be diagnosed with an ultra-rare genetic disorder, she felt completely lost.
Testing had revealed a mutation in baby Leo’s TBCD gene, affecting his brain, central nervous system and muscles.
“There was nowhere I could turn to ask questions as even the experts don’t have the answers, because of the rarity of the disease,” Andrews explains. “While my family is great for support, I didn’t have another parent I could talk to who knew exactly what it felt like to have a child affected with this condition.”
Trawling through research and sending thousands of emails and social media messages, Lucinda pieced together a jigsaw of families with the same TBCD gene mutation, which causes a neurodegenerative disorder. Discovering a network of cases in the US, Germany, Turkey, Peru, Israel, China and Japan, the UK-based mum reached out in the hope of finding support and information that could help Leo.
You are exhausted. You are alone. There is a true strength when you come together
It was an “enormous sense of relief” when Lucinda made these digital connections, finding other parents who “knew exactly what I was going through”. A small online chat group means emotional support is on tap, while Lucinda has benefited from more experienced parents demystifying medical jargon.
“There have been times when I’ve been really low and it makes all the difference,” she adds.
Breaking down barriers
By their very definition, rare diseases can easily cause patients and their families to feel isolated.
Their low prevalence means there’s often a huge geographical spread between patients. This is exacerbated for those with ultra-rare diseases, informally defined as conditions affecting fewer than one in 50,000.
The need to connect and find support means growing numbers of rare disease patients are turning to digital platforms for valuable insights. Social media breaks down the barriers of borders, time zones and even language, as translation tools mean patients can easily share experiences with someone on the other side of the globe.
Patients can speak about relatable challenges. They can access and share expert research previously held in libraries and develop advocacy plans to fundraise and campaign for greater awareness.
For Amanda Cordell, who has two children diagnosed with eosinophilic-associated diseases affecting the gastrointestinal system, creating an online community helped with the daily “battle”.
She launched the EOS Network as a Yahoo support group in 2005 to connect with others dealing with these chronic rare diseases, which can affect as few as three in 100,000. The charity network has grown to thousands worldwide across multiple social media channels and within a closed Facebook group.
“You are battling every day, whether you are living with it, campaigning for it or trying to treat it,” she explains. “You are exhausted. You are alone. There is a true strength when you come together.”
But it’s not just patients and their loved ones who need support. Recognising the isolation also felt by the medical teams working with rare diseases, a second community runs parallel to the patient group, with more than 240 healthcare professionals in 34 countries now connected.
“They are also battling for research and to get drugs developed,” she adds. “It goes hand in hand – healthcare professionals need insight and understanding, while patients need doctors.”
Rare disease communities exist across all social media channels, from Facebook and Instagram to Twitter and TikTok, which has had almost 290 million views of videos posted using the hashtag #raredisease.
Specialist platforms
Organisations in the rare disease landscape have also turned to digital communities that sit outside the social media giants. Healthcare-specific platforms focusing on rare disease communities include closed-access groups on sites like Inspire and Smart Patients.
Another example is RareConnect, created by EURORDIS, a European alliance of rare disease patient organisations.
RareConnect launched in 2010 with a single community for a rare auto-inflammatory disease. There are now more than 260 disease-specific online groups on the continually expanding network, says manager Sandra Pavlovic. Posts are available in 13 different languages on the moderated groups, translated to meet each patient’s pre-selected language preference.
“Patients and their families use the platform to share their experiences, exchange disease management techniques, better identify symptoms and empathise with one another,” explains Pavlovic. “But for all of them the common ground, especially those living with an ultra-rare disease who feel isolated, is in finding any available resource anywhere in the world or a connection with even a single patient.”
In a study published in March, researchers from the University of Salford found social media to be a powerful tool in understanding unmet patient needs when it comes to rare diseases. The team was granted ethical approval to anonymously analyse almost 2,000 posts over two years from patients in a closed UK Facebook group for those with the chronic kidney disease IgA nephropathy.
There can be as much disinformation among rare disease communities as on any other platform
Probing the posts, the study found a large number of information gaps and unanswered questions covering themes that “differed significantly” from those identified in a traditional patient focus group. It highlighted the data as “a reminder to clinicians that acknowledgment of patient concerns is fundamental to their role”.
That priority is recognised by Medics4RareDiseases, a group that connects thousands of early-career healthcare professionals across channels including Instagram, Facebook and Twitter to raise awareness of rare diseases and ensure patients can be “heard and understood”, says chief executive Dr Lucy McKay.
Avoiding pitfalls
While the benefits of digital connections with rare disease patients can be vast, a “pinch of scepticism” may be needed, says Thomas Smith, a member of the NHS Health Research Authority’s Ethics Review Advisory Group.
“While there is a unity around a singular cause, we have exactly the same pitfalls as with other social media interactions,” says Smith, who was diagnosed with cystic fibrosis at six weeks old. “It can be toxic, encourage comparison or run the risk of over-simplifying. There can be as much disinformation among rare disease communities as on any other platform, so it is a tool that must be used correctly.”
For Stephanie Ernst, it’s crucial to avoid these dangers. She has a strict evidence-based policy for the digital network she launched eight years ago for those with twin anaemia polycythaemia sequence (TAPS), which affects twins sharing a placenta in the womb. Starting with just 10 members, the forum has grown to almost 700 people sharing their experience of the condition.
Ernst’s daughters Emilie and Mathilde were born at 31 weeks at the Leiden University Medical Center (LUMC) in the Netherlands. When the TAPS diagnosis was revealed, “I was 16,000 km away from any close family apart from my husband and I felt so alone,” she says.
Practical support includes community webinars and expert Q&As, while the group’s evidence-based focus means access to the latest research, which can be shared widely.
“There is a real power in sharing, especially when some people in our community have very tragic losses,” explains Ernst. “We really see the benefits of the friendships and of providing that moment of clarity for people through peer-to-peer support.”
The group has a “unique collaboration” with the medical and research team at the LUMC, which is a world leader in TAPS. Ernst says this allows information-sharing that bridges the patient-doctor divide.
Researcher Dr Lisanne Tollenaar is a silent member of the group. She says this helps her clinical team to “better understand TAPS patients and learn from their perspective and their needs”, which helps improve daily care. “We also use this to refine our information both during our daily clinical work and online.”
Although collectively, rare disease patient numbers and the body of evidence is vast, the fragmented nature of information about individual conditions can be a hurdle not just for patients, but for medical professionals.
Digital groups allow for dedicated conversations, social listening and evidence-gathering that can advance understanding, empower patients and professionals and ultimately have the potential to further research.
When Lucinda Andrews learnt that her newborn son was only the 16th person in the world known to be diagnosed with an ultra-rare genetic disorder, she felt completely lost.
Testing had revealed a mutation in baby Leo’s TBCD gene, affecting his brain, central nervous system and muscles.
“There was nowhere I could turn to ask questions as even the experts don’t have the answers, because of the rarity of the disease,” Andrews explains. “While my family is great for support, I didn’t have another parent I could talk to who knew exactly what it felt like to have a child affected with this condition.”
