The Latest Webinar from NORD Showcases the Rare Disease Patient Experience

On April 28, 2022, the National Organization for Rare Disorders (NORD) and the Rare Disease Diversity Coalition hosted a webinar program titled “Walk in Our Shoes: The Experience of Rare Disease Patients.” The webinar featured patients living with rare conditions sharing their stories and discussing different aspects of their experience, such as diagnosis, interactions with physicians, and more. Speakers for the webinar included:

Linda and Brittany had very different diagnoses, but they are both women of color that were diagnosed with a rare disorder.

In Brittany’s case, the trouble started when she was giving birth to her first child at age 26. During the labor, something unexpected and concerning happened: she experienced heart failure. Only three days after being released from the hospital after the birth, she was readmitted with complete heart failure:

“Peripartum cardiomyopathy is usually something that women can recover from very soon after the birth of the child…I went on to need not only a mechanical heart, but also a heart transplant.” – Dr. Brittany Claymore

Linda first started displaying symptoms of hidradenitis suppurativa at age 13. This is a painful and potentially debilitating disease in which swollen, inflamed lumps appear on the skin. Linda’s family and doctors tried to downplay the symptoms:

“We didn’t pay too much attention to it until we moved here (to the US) and things started getting very complicated. My bumps were draining all of the time…I was in pain 24/7.” – Linda Sagastume

It was only at age 18 that Linda was able to a doctor that was experienced with managing her rare disease:

“It was a very overwhelming day for me.”

Brittany talked about the challenging the experience of heart failure. The family was concerned not only for Brittany’s health, but also that of the baby, which only weighed two pounds and was in intensive care. She also talked about the inconsistent care she received:

“Before I had been properly evaluated, the nurse told me I was having a panic attack.”

Brittany, a Black woman, was also misdiagnosed with pneumonia by a white male doctor even though her lungs were clear. She also shared about her experiences as part of focus groups and listening sessions for peripartum cardiomyopathy, which helped her feel heard and understood as a rare patient. Brittany also mentioned the importance of having the support of her family when she was getting treatment for the illness.

Linda and Brittany also said that they were involved in Facebook support groups, and that this has been an important resource for finding community.

Linda has also been involved in some vlogs and videos for health providers. She had shared her story through online programs. Linda also touched on how her diagnosis impacted her teen years:

“I was afraid of what others were going to think. I spent a lot of time trying to hide my disease from others. We have an unforgiving society.”

She also said that many people have been dismissive of her symptoms, claiming that she only wanted extra attention. Living with hidradenitis suppurativa has taken just as much of a mental toll as it has a physical one.

“I think the best experience I have had is a doctor asking this question: What question do you have about your body today?” – Brittany

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email