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Isolated by their child’s rare illness, parents find connection online

Michelle and Avery Quinlan. Avery was recently diagnosed with the rare genetic disorder Coffin-Siris syndrome.

Michelle Quinlan sat in her car in the busy parking lot outside the Children’s Hospital of Eastern Ontario in Ottawa, glued to her phone. She typed “Coffin-Siris syndrome” into Facebook’s search bar, a term that had eluded her since the birth of her daughter nearly eight years ago.

Moments earlier, her youngest child, Avery, had finally been diagnosed with the rare genetic disorder, which causes developmental delays, intellectual disability and other unusual symptoms. Throughout the diagnosis process, Quinlan had become consumed by inconclusive tests, doctor’s appointments and trips to the emergency room. But as the mother of two looked at her screen and saw a Facebook support group for parents of children with the same condition, she realized she was no longer alone.

“For me, that group was an immediate sense of relief,” she says.

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By now, it’s no surprise that the rise of social media has allowed people who would otherwise never meet to find each other and create communities around a shared interest. What is less obvious is that sometimes this shared interest can be a disease so rare that only a handful of people scattered around the globe suffer from it.

According to the Rare Disease Foundation, a rare disease is classified as a condition that affects fewer than one in 2,000 people, and according to the Canadian Organization for Rare Disorders (CORD) one in 12 Canadians will be affected by such a condition at some point in their lives. With an estimated 7,000 different rare diseases, and new ones being discovered every day, the road to diagnosis can often be a challenging and lengthy journey.

Durhane Wong-Rieger, president and chief executive of CORD, says “parents will often be forced to go on what we call the ‘diagnostic odyssey.’ They will travel from specialist to specialist and clinic to clinic trying to get a diagnosis, and it can be a very isolating experience for the whole family.”

Wong-Rieger knows the emotional effects of this odyssey firsthand. She has two adopted children who were born with rare genetic disorders. Wong-Rieger’s daughter was born with hypotonia and slow cognitive development while her son was diagnosed with a congenital heart disorder. She says that building networks was essential to managing the uncertainty that comes with being the parent of a child with one of these illnesses.

“It makes this experience feel much less hopeless if you can connect with somebody else who has been through the same thing,” Wong-Rieger says.

That’s where groups such as the Facebook community Quinlan joined come in. Through the site, users are able to build open groups dedicated to connecting people and sharing information about individual diseases. These groups vary greatly in size based on the prevalence of the disease, ranging from 5,600 members on the ALS Canada Facebook community page to 41 members populating a support group for an ultrarare condition called congenital infiltrating lipomatosis of the face.

In addition to patient-support groups on mainstream social-media sites, medical networks dedicated to connecting those with rare disorders online have also been established.

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One of these is RareConnect, a platform where rare disease patients, families and patient organizations can develop online communities and have conversations across continents and languages.

Launched by the European Organization for Rare Diseases and the United States’ National Organization for Rare Diseases in 2009, RareConnect continues to expand, with more than 35,000 members currently using the network worldwide.

“The larger the community, the more information that will be available and the better access users will have to learn about resources, such as new medicines or access to treatment,” says Marta Campabadal, a RareConnect community manager based out of Barcelona.

RareConnect’s site currently hosts more than 140 different disease-specific communities, with two new groups being created each week. They range from more common rare diseases, such as Down syndrome and multiple myeloma, to ultrarare conditions, such as fibrodysplasia ossificans progressiva (FOP) and Gaucher disease, which both affect less than one in 100,000 people, according to Orphanet’s 2018 rare disease prevalence report.

As the network has grown, RareConnect’s community creation policies have become more flexible, allowing users affected by ultrarare diseases that lack sufficient support systems to become community moderators and build their own group from the ground up.

“Many new rare-disease communities will not have the structure of patient organizations and national alliances behind them,” Campabadal says. “Sometimes, it will simply be a single family gathering all the information and building a network of other families.”

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The key to maintaining RareConnect’s accessibility has been the site’s commitment to breaking down the language barrier in the rare disease field. All of the information posted in the network’s communities is universally translated by Google Translate and reviewed by a group moderator, a feature that has been integral to RareConnect’s continued growth, Campabadal says.

“We are fortunate to live in countries like Canada and Spain where information and patient organizations are available in our own languages,” she says. “In other parts of the world, information on certain rare diseases can be so scarce that sites like RareConnect are the only tool for people to learn more about their diseases in their own language.”

Taila Hartley, director of operations for Care4Rare, a nationwide research program aimed at improving both the diagnosis and treatment of rare diseases, says the sheer amount of information available online has encouraged patients to take matters into their own hands.

Hartley says they are now starting to confront medical professionals with relevant information about their options in hopes of finding the right diagnosis, and maybe even a potential treatment plan.

“Often, these diseases are so rare that a medical geneticist will never have seen one of these conditions in their entire careers,” she says. “A lot of families that have these ultrarare diseases are becoming experts in their rare disease, and they go to their clinicians and actually provide them with information.”

When Avery was recently admitted to the hospital because of complications, her mother reached out to members of the Facebook group for help. Dozens of people from all over the world offered her advice based on their own personal experiences. They recommended an elective surgery to reduce Avery’s likelihood of developing a chronic respiratory infection, yet another risk associated with Coffin-Siris syndrome. After consulting with a specialist, she decided an adenoidectomy was the best course of action.

A quick scroll through her News Feed reveals an endless stream of well wishes and heartfelt condolences. It’s not uncommon for parents of children with a rare illness to celebrate their kids’ milestones with Facebook friends in an attempt to restore some semblance of normalcy, Quinlan says.

“A lot of people post pictures of their kids in Halloween costumes,” she says. “I remember posting when she wrote her birthday party invitations all by herself on her eighth birthday."

But Ms. Hartley worries that overexposure to online discussion forums may instill in users a false sense of hope.

“We wish we could say that each patient is going to be able to connect with someone else, find the diagnosis that has eluded them for so long. It’s still a minority that is able to make their way through that process,” she says. “Most of them still sit in this terrible limbo.”

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