By Bonnie Feldman, Ellen M Martin, and Tiffany Simms
What Do We Mean by the Autoimmune Abyss?
More than 50M patients in the US are living with 100+ different kinds of autoimmune diseases. In “The Lonely Voices of Autoimmune Disease” young adults talk about the challenges of living with chronic disease in the prime of their lives.
”I was in my early twenties when I began experiencing symptoms, which doctors dismissed as me being a hypochondriac… I was ‘too young.’”
Katie’s story exemplifies the struggle of diagnosing and treating illness, while living with invisible, debilitating, multi-symptom disease. Her experience shines a light on the current state of the art for diagnosis and treatment, especially if symptoms are vague (fatigue, weight gain or loss) or fit more than one disease.
Why are Autoimmune Diseases Underserved, Under-Recognized, Under-Diagnosed, Under-Researched, and Under-Appreciated?
Two recent articles further explain some gaps across the continuum of care– from research to clinical trials and care coordination.
“Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist” 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” poses some big picture questions surrounding autoimmunity and how to combat it.
- How, when and where (including remote anatomical sites) triggers autoimmune responses?
- 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?
- Which pathogenic mechanisms trigger immune cell misbehavior, 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: getting involved and becoming part of the solution is increasingly worthwhile. 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.
“Technological advances 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.
Citizen scientists and other members of Quantified Self such as Larry Smarr, show us how collecting and analyzing longitudinal biometric data may help to identify early signs of Crohn’s disease.
The type 1 diabetes 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.
*L. Kish and E. Topol. Nature Biotechnology 33, 921-924 (2015)
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: genomics, microbiomics, nutrigenomics, metabolomics, mucosal immunology, and immune repertoire sequencing, for starters.
Microbiome research via the NIH, American Gut and Ubiome offers autoimmune patients new hope of improving symptoms through manipulating diet. Other potential help comes 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 successful sharing and collaboration platforms, which include:
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.
“Took me 5 years and 12 specialists to be diagnosed with Celiac and Hashimoto’s. I want the next person to be diagnosed on the first doctor.”
Let’s collaborate – contact DrBonnie360 at email@example.com