More than 50M patients in the U.S. are living with 100+ different kinds of autoimmune diseases. Despite being common, most people know little about the disorders and the impact they have on the lives of people who have them. We have been trying to change that by helping them tell their stories.
In this short video, “The Lonely Voices of Autoimmune Disease,” young adults explain what it is like to live with a chronic disease in the prime of their lives:
“I despised being bed ridden, but, even something as simple as joining my Mom at the grocery store caused extreme exhaustion. It was a long road to recovery. For the next few years, I faced a constant battle with my disease…Before I was in remission, every day was a battle. I had to make major adjustments to my life to simply get by. I learned that I couldn’t always say yes to everything. I often had to miss a friend’s birthday or a dinner out with family because my body was too exhausted to do anything but sleep.”
Lilly’s story exemplifies the struggle to be diagnosed and treated while living with invisible, debilitating, multi-symptom disease. Her experience shines a light on the current state of the art: It can take 3.5 years and 5 doctors to get a useful autoimmune diagnosis, especially if symptoms are vague (fatigue, weight gain or loss) or fit more than one disease.
Why is there an autoimmune abyss?
Two recent articles further explain some of the gaps across the continuum of care—from research to clinical trials and care coordination. They are:
- “Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist”
This paper suggests new ways to characterize patients with more than one autoimmune diagnosis and look for common underlying causes.
- “Solving the Puzzle of Autoimmunity, Critical Questions”
This article illuminates the state of the art as a puzzle yet to be solved, posing some of the big picture questions, such as:
♦ How, when and where (including remote anatomical sites) are autoimmune responses triggered?
♦ What is the role of genetic predisposition? Why do some autoimmune diseases cluster in families? Why do some people and not others develop symptoms?
♦ What part do environmental influences, oxidative stress, and the microbiome play in the development of autoimmune disease? What pushes the immune system over the edge into disease?
♦ What are the pathogenic mechanisms that trigger immune cell misbehavior, and inflammatory mediators and drive the phenotypic expression of autoimmune disease?
♦ How and why do treatments work or not? Can restoration of immune tolerance cure autoimmune disease?
How can technology enable information sharing and knowledge creation?
The good news is that we are living in times where it is increasingly worthwhile to get involved and become part of the solution. Technological advances (improving computer processing power and speed, cloud computing, open APIs, and other IT infrastructure) are making it easier to gather and share information and create new knowledge about autoimmune disease.
Communities of patients, such as Smart Patients, my Health Teams, and others are coming together to share information about their diseases. For example, the type 1 diabetes (T1D) community is pioneering using data and digital tools in new and novel ways. Tidepool, started by several parents of children with type 1 diabetes, has created a visualization platform that brings all their data to one place and allows children to better track their activities. The T1D Exchange is a patient community at the front end and a research community at the back end.
Citizen scientists and other members of Quantified Self, such as Larry Smarr, are showing us how collecting and analyzing longitudinal biometric data may help to identify early signs of Crohn’s disease.
Technology is also changing clinical trial recruitment. Several start-ups are shortening clinical trial recruitment times by going directly to the patient communities. Noteworthy is Stanford’s recent recruitment of 10,000 cardiovascular volunteers in one day, using the Apple Research Kit.
Our new ability to collect, analyze, store, and move extremely large datasets is spurring new research in autoimmune disease (i.e. genomics, microbiomics, nutrigenomics, metabolomics, mucosal immunology, and immune repertoire sequencing, for starters).
Microbiome research via the NIH, American Gut and Ubiome may offer autoimmune patients new hope of improving symptoms through manipulating diet. Other potential help is coming from start-up companies such as Vedanta, Second Genome, and Seres Health, working to create microbiome therapeutics.
What can patients, researchers, and clinicians do now?
How can we work together to apply this new knowledge and fill the gap for the patients?
With improving digital tools, each of us can now contribute to our expanding knowledge base for autoimmune disease. We do not have to reinvent the wheel but can start by looking at other communities, such as cancer, where successful sharing and collaboration platforms include:
- The MMRF (Multiple Myeloma Research Foundation)
- The Genetic Alliance
- Sage Bionetworks
- Open Medicine Institute
For inspiration in the autoimmune clinical arena, we can also look at the worldwide community efforts of the National Psoriasis Foundation, Crohn’s & Colitis Foundation of America, Autoimmunity Network and the work of the Collaborative Chronic Care Network, just to name a few.
The time is right for us to come together and build collective knowledge bases to help make “The Lonely Voices of Autoimmune Disease” less lonely.