Crowdsourcing Hope in Rare Disease Communities

Zebras ahoy! This is the time of year when rare disease patients, caregivers and advocates amplify their voices and increase their bid for awareness and understanding of living life with a rare disease.

Are you reading this during your commute, riding an elevator or sitting in a public space? One in 10 Americans is a zebra, the fanciful name given to people with a rare disease, which means you may be next to one right now. They’re in our midst all day long, redefining courage, persistence and the power of collective problem-solving.

At AbelsonTaylor, we do an extensive amount of social listening across the rare disease space. During the past year, we saw a healthy response to two TV series created to help diagnose hard-to-crack illnesses. Because it can take anywhere from seven to 10 years for a rare disease to be accurately identified, many undiagnosed or misdiagnosed diseases turn out to be rare.

Diagnosis, based on Dr. Lisa Sanders’ New York Times column of the same name, launched on Netflix in August 2019. Each of seven episodes charted the journey of a patient who had been unable to obtain an accurate diagnosis through conventional systems and hoped a diagnosis could be found through crowdsourcing.

In Chasing the Cure, a weekly program on TNT and TBS that also premiered last August, producer and host Ann Curry tapped into the idea that communities of people from all walks of life could interact on live TV to assist on real medical cases – in real time.

Overall, patients seemed pleased to see these new approaches to the long, arduous process of getting a diagnosis. They were also delighted to see themselves represented. There were the expected concerns over privacy, laypeople acting medically, and the “Dr. Google” approach to diseases. But from a patient perspective, a new solution was needed.

Both programs spoke to the complexity of rare and unique medical challenges, how limited but critical knowledge may be held in small, very separated sub-groups, and how joining the parts might unlock the mystery. They gave patients a voice in the process –made them central to the quest for a solution rather than being just a cog stuck in a broken healthcare system. The programs felt optimistic and innovative.

Conversely, they shed harsh light on the incredibly rigorous process it can be to find an answer, be heard by your doctors, and ensure that the right treatment team is assembled. The programs also touched on the added financial stress faced by families trying to deal with an unexplained illness and the obstacles caused by inadequate health insurance.

The crowdsourcing approach to diagnosis is not strictly new to physicians. Whether they are part of a diagnostic unit within a larger center, participating in Medscape Consult, or performing clinically across large academic medical centers, they are accustomed to presenting cases, discussing them as a group, and reaching out to other physicians who may have particular insights.

Patients, on the other hand, are not so accustomed to this type of inclusive approach. The battle to find the single diagnostic answer usually feels insurmountable and well beyond their personal capabilities.

What we notice, however, is that patients often mimic crowdsourcing techniques. They compile the list of impacts on their life, what they feel, what they can or cannot do, what triggers seem to be involved, whether the same symptoms have appeared elsewhere in their family, and on and on. Then they find others – often on social media groups or through hashtags or sub-reddits – where the story seems similar. And they start digging to see if they match.

Rare disease patients seek one another out so they not only have the common bond of “life with . . .” to break their isolation, but also so they can share their knowledge in hopes it will help others. We frequently see rare disease patients guiding others by recommending the type of doctor to contact and sharing the key questions, conversations or tests that were the tipping points in their own diagnoses. Patients outline the obstacles and barriers they overcame in order to shorten the journey of those behind them – “Avoid my pitfalls, I have marked them for you here!”

Entire organizations have grown out of this inclusive, active-patient mindset. Satu Salonen, president of the Finnish Association for Ultra Rare Diseases, started her journey in 1998 when she retired from an IT position to find treatment for her own rare condition. She describes the process as a “chaotic loop” that keeps taking you back to square one. She would like for patient advocacy organizations to be a more collaborative and ingrained part of healthcare because they have specialized knowledge about particular diseases and treatments and a deep understanding of the impacts of these diseases on patient lives.

This year as we #ShowYourStripes and bring a face and a story to so many people living with a rare disease, I hope we see more creative thinking, application of innovative technology, and bridge-building to first find the diagnosis, then pursue the cure.

Let’s listen more closely to the patients. The answers are there.

#ShowYourStripes #RareDiseaseDay