How social media can help rare disease patients

When Lucin­da Andrews learnt that her new­born son was only the 16^th 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.  

---