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Path to a Rare Disease Diagnoses

This session included LaQuilla Harris, a thyroid eye disease patient and advocate, Lexy Goodwin, a Myasthenia Gravis patient and advocate, Eric Alderman, an autoimmune hemolytic-anemia patient and counsel at IBM, and Dr. Mirta Santos, Executive Director of the American Behcet’s Disease Association.

Recorded October 2021 at the Autoimmune Community Summit.

The Journey to a Diagnoses

It takes the average autoimmune patient seven years and five doctors to obtain a diagnosis. Rare autoimmune diseases take even longer.

The discussion began with LaQuilla Harris who lives with Graves disease and thyroid eye disease. She had suffered vision loss because of the amount of time it took to get diagnosed.

When you are being diagnosed, get more than one doctor’s opinion. I hope to see more pamphlets in the doctor’s office on thyroid issues. It would make more women aware of the problem and they could ask their doctor to check their thyroid levels.”

Alexis “Lexy” Goodwin who lives with Myasthenia Gravis, was diagnosed at nineteen years old while a sophomore in college. Her quest for diagnosis took “only” eight months, so she considers herself lucky compared to the average. She pointed at the importance of self-learning. “Research is your best friend. It’s important to be knowledgeable not just about your condition but also yourself. Document your changes and learn about your new body, your new life.”

Eric Alderman lived a very healthy life until around his early fifties when unexpectedly some labs came back abnormal. Nearly a year and several doctors later he was diagnosed with autoimmune hemolytic anemia.

“Connect with specialists by reading,” said Eric. “Go online, google, read anything you can about your condition. That’s how you learn who the real specialists are. Check the NIH or clinical trials websites. Get involved with other people who have your disease. Facebook groups, organizations – these help you get connected and help you learn.”

Eric also explained that there is much that the autoimmune patient has no control over, and that even though it is natural to want answers as to why a disease happens, it’s important to focus on what you can control, namely the commitment with which one pursues care and treatment.

Dr. Santos spoke about one particular patient in the American Behcet’s Disease Association (ABDA) who, after being diagnosed, decided to get involved in the patient community. She went on to become a hotline operator, then a board member at the ABDA, and was ultimately very successful at helping others on their journey, which is also a form of self-empowerment.

Why is it Important to Self-Advocate?

“No one,” said Lexy, “is going to take better care of you than you. It’s important to speak up for yourself. You’re in control of your journey. So, when you go into your doctor’s office ask all the questions you can, get as much time as you can.”

“You have to be an advocate for yourself” asserted Eric. “Also, look at it as contributing to the greater good, which you can do, for instance, by contributing to clinical trials or being on the board of an advocacy organization. My primary focus is myself, but I want to take what I learn and pay it forward to others.”

“Part of the journey of being diagnosed with a rare autoimmune disease,” added Dr. Santos, “is feeling isolated. It’s so important to connect with others and feel that you belong to a community that cares and can support one another.

Laquilla shared her philosophy on self-advocacy. “Journal your feelings and symptoms daily, or weekly. If a doctor can’t help you, ask them to refer you to someone who can. Build a team of supporters and caregivers.”

Recorded October 2021 at the Autoimmune Summit.


“The long road to a diagnosis,” concluded Dr. Santos, “is difficult and it affects our health, our wellbeing, and our survival rate. But it’s important to know you are not alone in the journey.”

Learn more about the Summit

We tackled the most pressing topics that impact patients and caregivers living with autoimmune conditions.

Learn more about the Autoimmune Research Network (ARNet)

Together, we’re accelerating the pathway to breakthrough treatments.