According to a story from the Globe and Mail, Michelle Quinlan was overwhelmed when her child Avery was diagnosed with Coffin-Siris syndrome, a rare genetic disease that can cause intellectual disability and developmental delays. Michelle felt cut off, with few people who could truly understand the situation. Many rare patients and their families experience this feeling, and when facing a rare disease like Coffin-Siris syndrome, it can be very isolating.
Going it Alone?
The diagnostic process for rare conditions is often an extensive, complicated, and stressful ordeal. Patients are often subjected to multiple, sometimes invasive tests, inconclusive doctor’s appointments, and trips to the hospital. However, no rare patient or family has to face their disease alone. Michelle looked up Coffin-Siris syndrome on Facebook and found a support group for those facing the disease.
There is no doubt that social media has had a major impact on the lives of its users, and one of its greatest merits is its ability to bring people together who have shared concerns or interests that would otherwise never have the opportunity to interact with one another. This can include rare illnesses like Coffin-Siris syndrome. While these rare disease community pages can vary in size, they serve as valuable sources for exchanging information and offering mutual support.
While widely popular social media sites like Facebook have become a haven for rare disease support pages, there are also more specialized websites that are specifically dedicated to fostering community among rare disease patients.
One example is RareConnect, a website that was first launched in 2009 with a collaborative effort from the U.S. National Organization for Rare Diseases and the European Organization for Rare Diseases. RareConnect has been growing ever since, with around 35,000 members on the site from across the planet.
The site currently has 140 distinct disease communities, with new ones being created every day. RareConnect has also made great efforts to break down language barriers with Google Translate and dedicated site moderation, meaning that people from different countries with the same disease can still interact.
Advice from the Coffin-Siris syndrome Facebook group helped encourage Michelle to go through with a procedure that helped Avery avoid long term lung infections, which is another effect of the disease.
While online resources are still lacking for some rare conditions, they are nevertheless and meaningful resource for struggling patients and their families who are desperately seeking advice, empathy, and understanding from others that have endured their struggle.