The rare disease that changed my perspective on medicine

When I first met Maggie, I was struck by the way she sat on her chair with regal posture—tall, poised, but welcoming, with a smile that glowed.

For those few seconds, I forgot that Maggie and I were paired through the Global Genes Rare Compassion Scholarship Program, which matches a medical student with a person living with a rare disease. Maggie lives with Ehlers-Danlos Syndrome (EDS), the hypermobile type.

EDS explained

EDS is a genetic condition that affects a person’s connective tissues and manifests as joint hypermobility, stretchy skin and tissue fragility. EDS comes with an entire galaxy of symptom constellations. Some are well-documented but many still remain in the dark, discovered only through the experiences of real-life EDS patients.

Some symptoms are relatively mild and vague, like recurrent acid reflux. Some, like organ or vascular rupture, can be fatal. Most are musculoskeletal in nature—irritating, extremely painful and activity-limiting. Maggie struggles with chronic pain.

EDS, a systemic disease that affects almost all connective tissues in the body, also predisposes the person to other illnesses. Throughout her life, Maggie has suffered from migraine headaches, Celiac disease, scoliosis and cerebrovascular issues. Medical science is just beginning to understand how EDS predisposes one to other chronic medical ailments.

For example, Maggie has experienced many “random waves” of severe allergic symptoms that no physician could explain. Through decades of experience peer mentoring children and adults with EDS, she noticed a disproportionately high incidence of mast cell activation syndrome with EDS. This correlation is just beginning to be understood by researchers, as evidenced by a 2017 review in the American Journal of Medical Genetics.

A new identity

Some say that after people are diagnosed with a rare disease, they also receive a new identity. Maggie was diagnosed with EDS at 13, when she presented to the ER for her third large joint dislocation of the summer.

After explaining the implications of EDS, such as having to modify or even refrain from doing sports, the diagnosing physician took off his white coat and sat next to her.

“Now, as a person who also has this disease, I am going to tell you this: Only you can set your own limits,” he said. “Go ahead and try all the activities that you want, just listen to your body. Also, you have to learn how to be flexible if things don’t go the way you wanted them to go.”

Maggie was able to grow, rather than break, for one reason: Her mind and spirit became just as flexible as her physical body.

She got creative in her efforts to maintain physical and emotional health. Maggie learned to meditate and practice mindfulness to cope with the stress of dealing with EDS. Before she takes care of anyone else, Maggie takes care of her own health. As health care professionals, we can learn a thing or two about self-care and health maintenance from her example.

Life-long learning

After facing a life-altering diagnosis, Maggie taught herself anatomy and medical jargon so that she could better communicate with her doctors. Her effort reminds me that you don’t have to be a doctor to commit to the path of life-long learning.

Health care professionals must go beyond our comfort zones and listen to patients’ life stories to understand and have compassion for people living with rare diseases.

Maggie’s inspirational life story has a lesson for everyone: We can all learn how to flower from flexibility.