Rare in Common: the podcast

In December 2019, Tescha left her job of 16 years as a physician’s assistant in the emergency room after facing difficulties with her recently diagnosed Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disease that attacks the connection between nerves and muscle cells. While living at home, Tescha saw an opportunity to reinvent herself with the support of her family and her newly discovered love of woodworking. Even though LEMS was a part of her life, she proved it would not control her life.

Approaching Rare Disease Day 2021, Neena Nizar, EdD, felt frustrated with the usual conversation around living with rare. Instead, she decided to start a different dialogue, sharing the hard truths of her condition.

What followed was an outpouring of global support, with individuals from many rare disease communities coming together to share their stories with the hashtag #RareDiseaseTruth. In less than 2 weeks, the hashtag reached nearly 2 million people, generating 7000 interactions and 5000 shares.

In addition to celebrating their strength this Rare Disease Day, the hashtag has given patients, caregivers, and leaders the chance to be vulnerable—and discover common truths that tie them together.

In March 2020, after a year of battling what was assumed to be arthritis, 3-year-old Sophie Rosenberg was diagnosed with multicentric carpotarsal osteolysis (MCTO), a rare skeletal dysplasia. In spite of their initial shock, her parents Lauren and Hosea immediately tapped into their entrepreneurial roots, creating Sophie’s Neighborhood, an advocacy organization dedicated to funding research for MCTO treatments. They now find themselves in the unfamiliar world of rare disease advocacy, fighting to change their daughter’s future.

And they need your help. Sophie’s Neighborhood is holding their next fundraiser on August 15, 2020.

Diagnosed with X-linked hypophosphatemia (XLH), Susan has faced the challenges of living with this rare disease to become an advocate of the community and an influential force behind the XLH Network. The global community recently celebrated the second annual XLH Awareness Day on June 23, 2020.

This episode is brought to you by Ultragenyx.

As a global community, we’re living through unprecedented times. But what does COVID-19 mean for people living with rare diseases? Neena Nizar and Seth Rotberg are rare disease advocates, both living with rare diseases themselves, and are here to provide some insight. In this episode, they discuss the impact of the pandemic, both in their present-day lives and for the future of the entire rare community.

Patients diagnosed with rare diseases likely have a lot of questions. Luckily, Joe Alaimo, our guest on this episode of the American College of Medical Genetics and Genomics (ACMG) series, can help answer them. Hear from Alaimo as he talks about the importance of genetic research in the rare disease space and advocates for patient education to promote disease understanding.

When it comes to understanding rare disease, education is the first step. In this installment of the American College of Medical Genetics and Genomics (ACMG) series, our guest is Debra Regier, the director of genetics education at Children’s National Medical Center in Washington, DC. Listen as she discusses her methods in making education more effective, as well as the importance of interactive learning in rare disease.

A diagnosis is supposed to bring patients answers, but what happens if that diagnosis is wrong? Meet Susie Perkowitz, a patient living with a rare form of diabetes who faces blindness due to 3 years of misdiagnoses and incorrect treatment. Listen as she and Toni Pollin, a geneticist focusing on monogenic diabetes research, explain the importance of a correct diagnosis and how advocacy, working together, and genetic testing are paramount to finding answers for patients.

With gene therapies on the horizon, a diagnosis is more important than ever. In this installment of the American College of Medical Genetics and Genomics (ACMG) series, our guest Melanie O’Leary discusses the Rare Genomes Project and the goal to use whole genome sequencing technology to find answers for those with undiagnosed genetic diseases. Listen as she explains why broad is better in finding a diagnosis and the importance of partnerships with patients.

In the world of rare disease, it can feel impossible to find a diagnosis, let alone a treatment. Onno Faber explains how his interest in science helped him when was diagnosed with a rare disease called neurofibromatosis type 2 (NF2). Listen as he talks about the importance of patient involvement and his dreams for the future of rare disease.