Background/Purpose: After a complex diagnostic journey, my PCP working on a rheumatological theory ordered a myositis-specific autoantibody (MSA) panel. It revealed the presence of an antisynthetase autoantibody, and a very rare one. A serious diagnosis—and one that is rare and rheumatological like dermatomyositis/anti-synthetase syndrome—can be devastating and leave one in the unknown. As a young professional facing this exact situation, I remembered a piece of wisdom: dignity is affirmed by facing reality as it is, and responding responsibly.

Intervention: Nature had dealt a harsh blow. However, I attempted to restore some personal agency. I immersed myself in the science of myositis. I collected dozens of relevant research papers, carefully read through, annotated, and extracted points to help reason about my own situation. Aside from research, I tapped into the Myositis Association (TMA), the leading, global, myositis non-profit. Of the range of TMA services, I leveraged a subset: lectures from experts, online forum, and conferences. I discovered and selected my myositis-expert rheumatologist thanks to TMA, along with large parts of my broader care team.

Maintenance: Through education, my condition was no longer a black box that could only be deciphered through an expert. For patients without the relevant professional backgrounds or comfort with research, patient organizations like TMA provide the accessible, expert-crafted resources needed for patients to become fluent in their condition. No small contribution considering the larger information ecosystem in which predatory actors are eager to provide ‘solutions’ to fearful, vulnerable patients. 

The patient-as-subject approach yielded other benefits: I understood tradeoffs of different treatments or why a particular test (e.g. CK, AST, ALT, pulmonary function) was being done. And I could interpret each of these at a fine-grained level, their implications, and have more sophisticated provider conversations as a result. I also found mindfulness, adapted for dealing with illness, helpful in navigating many stormy, difficult situations associated with my journey.

Quality of Life: Resuming my normal activities, and engaging in the myositis community have been the two elements that have been personally meaningful. 

I was the beneficiary of the vision and generosity of patient and provider leaders at The Myositis Association. I would, in my small way, repay this forward by joining the board of directors and applying my professional experiences to advance the needs of the myositis community.

From consuming and applying myositis research, I’ve now become a contributor to a number of myositis research efforts. For example, I’ve joined one study as a technical advisor, applying my professional background in product management to enable telemedicine myositis research. My experiences navigating a rare condition and applying mindfulness practices, which I had learned from the Sōtō Zen and other traditions, were articulated into an ‘Applying Mindfulness to Navigate Chronic Illness’ class. I was privileged to teach this in a number of settings from small patient groups to large conferences. And the positive response and value others have gained has been a deep source of personal satisfaction. 

Takeaway: 1. Importance of autoantibody testing – Myositis autoantibody testing should be considered in a wider range of scenarios from isolated, RA seronegative arthritis to partial, or atypical presentations. This wider testing may enable more accurate diagnosis, earlier detection, and better outcomes.2. Patient-as-subject approach – Due to the complexity and challenges of the myositis family of conditions, providers should encourage patients to be as agentic as possible. This could include educating themselves on their conditions, engaging with patient organizations, shaping their treatments, and contributing back.

TMA board members, medical advisory board member, staff, and executive director at the Global Conference on Myositis (GCOM); Mustafa on far left.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/mastering-a-rare-autoimmune-disease-my-journey-regaining-agency-through-education-collaboration-and-community/