In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically “any disease or condition that affects less than 200,000 persons in the United States,”
To give a sense of magnitude and impact, there are roughly 7,000 rare diseases and collectively they affect 300 million people worldwide. 1 in 10 people in the US suffer from a rare disease. (Source: Siren Interactive)
Coping with rare disease
Those with rare diseases can face serious challenges. Attaining a proper diagnosis can be difficult, even among the more well-known rare diseases. Symptoms are often confusing and mis-diagnosis is not uncommon.
In fact, according to the FDA, for one-third of those with a rare disease, accurate diagnoses can take one to five years. And, patients face challenges associated with finding and accessing care:
… [patients are] often are so isolated that they may never know anyone else with the same disease. Patients often must travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnosis, treatment, and other related expenses can be exorbitant.
With a little help from my friends
One way rare disease patients have found a way to meet their challenges is by connecting with one another online. Bensfriends.org is one such place where patients and caregivers are conversing, sharing and supporting each other.
Bensriends.org started out of one person facing a rare, life threatening disease called arteriovenous malformation (AVM). From Ben Munoz, founder of Bensfriend.org:
I survived a life-threatening brain hemorrhage from a rare form of stroke called an AVM. The loneliness and anxiety I faced led me to create an online support community so that I could connect with other AVM patients. Then in 2008, former classmate and friend Scott Orn and I founded Ben’s Friends Patient Communities.
When Ben started to connect with other AVM survivors, it became apparent that “community is the best medicine.”
Bensfriends.org has over 33 on-line rare disease communities with more than 29,000 members globally – and the community continues to grow, with over 1,200 members joining per month. Bensfriends.org is run by 130 plus moderators that help to run each of its patient communities. The moderators are all volunteers, whose compensation is in serving their community.
Find treatments and ways to manage disease
One of the problems for rare disease patients is finding ways to treat and manage their disease. For many, treatments are partially effective at best, and for some there are no effective treatments at all. If there are effective treatments, they can be hard to find.
Being in a supportive community can help. Consider W.H., who suffers from Chronic inflammatory demyelinating polyneuropathy when he says,
Before joining [Ben’s Friends] I knew of no significant treatment alternatives other than the IVIG treatment that I have been getting for years.
Shortly after joining the group, I learned of a treatment that could shut down the autoimmune response associated with my CIDP. I then spoke to people at Northwestern University that are overseeing this treatment research project. They report a 60-70% success rate. I was also able to make phone contact with one of our group members that went thru the procedure. She is thrilled with her results. I then spoke to my doctor about it and he pointed out a less aggressive option that could also shut down my disease-related autoimmune response.
Following clinical research is hard
We’ve established that rare disease patients have unmet needs, and that current standards of care and treatment often fall short of being effective.
But, what about the new treatments that are emerging and being tested? It makes sense that Benfriends.org community members have a high interest in emerging treatment options under investigation in research and development pipelines.
We’re learning that finding, understanding, and accessing clinical research for rare disease patients is too difficult and becoming aware of a potentially life-changing new research and development treatment is very challenging.
What might be possible?
What if patients could follow already available, public information tailored specifically to their disease?
Can we make it easy, so that patients don’t need to sift through specialized medical terminology, or wade through vast amounts of data from Google searches? Can we make it up to date, relevant and provide just what is needed, when it becomes available?
How can we surface new knowledge from community members – could we have communities involved in curating that knowledge to assure it’s finely tuned to members needs? Might people want to follow very tailored research, or even the people who are doing tailoring?
Could social models for curating information like Pandora or Spotify apply to open clinical research information?
We’re in the midst of exploring all of these. As we gain insight and bring experiments, prototypes and demonstrations to light, we’ll be sharing them in the open with Bensfriends.org and anyone who might find them interesting or valuable.
Why it matters
Armed with valuable clinical research data in an on-line community, rare-disease (and all) patients can:
- Stay on top of the newest treatments and research related to their disease
- Go beyond geography – internationally – to tap into globally available information on research and trials that is not available locally
- Engage with their doctor to share and understand how emerging treatments might apply to their condition
- Understand where relevant trials are being conducted, and explore whether they might be a candidate
- Learn about specific clinical trials and investigator sites of interest, and understand how to gain access to them
- Ultimately, contribute to driving forward clinical development efforts by sharing their knowledge, or joining a clinical trial
We’re privileged to be exploring with Bensfriends.org to better understand their clinical research information needs, and ways to meet them. We look forward to continued collaboration, and to real demonstrations of ways to bring clinical research information to people and communities that need it.