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.

Did you know that there are benefits to studying human genetic variants in worms or fish? In this fascinating chat recorded at the American College of Medical Genetics and Genomics (ACMG) annual meeting, Shula Jaron explains how transgenics give scientists a simpler way to study human disease genes and mutations in live organisms. You may be surprised to learn that worms and zebrafish play an important role in discoveries in rare.

In this episode recorded at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, hear from 2 experts in the field of genetics. First, Dr. George Diaz discusses his role as a medical geneticist and pediatrician, the value of connecting families affected by rare diseases, and the impact technological advancements have made in his field. Next, Dr. Katy Phelan shares highlights of her career as a laboratory geneticist—including her discovery of a rare deletion syndrome. She explains why when patients connect, it helps their families and improves her research and understanding of the disease.

For this third installment of the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting series, we sat down with Kim LeBlanc of the Undiagnosed Diseases Network (UDN). She walks us through how the UDN helps patients find answers, a diagnosis, and a community, as well as the hope a diagnosis can provide for those living with a rare disease. Listen as Kim explores the journey to diagnosis through UDN, resources and organizations for undiagnosed patients, and the role of genetic counselors in the rare space.

In this special episode, join the Rare in Common team on the floor at the American College of Medical Genetics and Genomics (ACMG) annual meeting in Seattle. As the team walked around the conference, Andra had the opportunity to chat with members of the genetics community in attendance, from geneticists to genetic counselors to advocates. After speaking with the guests, it’s clear there is a positive outlook for the rare community with the help of advancements in genetics.

This episode is the first in a special series recorded live at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Seattle. We had the honor of speaking with Dr. Anthony Gregg, the incoming president of ACMG, to get his perspective on what medical genetics brings to the practice of medicine. Dr. Gregg shares the benefits of getting rare genetic disorders diagnosed early, and the many ways in which this knowledge can help families plan and prepare. Dr. Gregg also provides a fun and interesting lesson in genetics that everyone can understand.

From navigating her son Case’s rare diagnosis with the help of her own mother (and a medical diagnosis television show) to being honored at a global summit meeting for patient advocates almost a decade later, Melissa Hogan’s story is raw and riveting. She describes the reality of her son living with mucopolysaccaridosis II, or Hunter syndrome, as “beautifully heartbreaking”— a sentiment that rings true for so many parents raising children with rare diseases.

Rare Disease Day marks 1 year of creating Rare in Common podcasts! In honor of this special day, which is celebrated by the rare disease community around the world, we’ve created an episode that highlights some familiar voices from past podcasts and even puts host Andra Stratton in the “guest seat” to answer some important questions. At the 2018 Global Genes RARE Patient Advocacy Summit, Andra was inspired by the 3 questions posed to everyone in attendance by keynote speaker Rachel Callander, TedX presenter and author of the award-winning Super Power Baby Project. She explores those questions with our guests and offers her personal answers as well. Our guests, all of whom have been featured in past episodes, represent an array of rare diseases, a vast collection of experiences, and many incredible stories and insights—all illustrating that as a rare community, we are stronger when we come together. We were honored to speak with these guests at the Global Genes RARE Patient Advocacy Summit a few months ago and are excited to share some special highlights of those conversations on Rare Disease Day.

When Eve Pallang felt a pain in her ribcage, she first brushed it off as muscle soreness from shoveling snow. The pain continued to spread so she went for an X-ray. The results were normal, but, fortunately, a doctor at the hospital advised her to go for more tests. Ultimately, she received the earth-shattering news that she had acute lymphoblastic leukemia (ALL). Facing her diagnosis—and all that followed—with the support of her husband and family was critical for Eve. But she but no idea at the start of her journey to remission how being in the right place at the right time would land her in multiple clinical trials that would ultimately save her life.

This episode is the third in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit, the largest worldwide gathering of rare disease patients, advocates, and thought leaders. When Luke Rosen’s daughter Susannah was diagnosed with a rare, neurodegenerative disease called KIF1A-associated neurological disorder (KAND) in 2016, he quickly learned there was a lack of information and resources for families like his. His desire to be there for his family and search for a treatment for KAND prompted him to leave his acting career behind and forge a new path. Two years later, as the founder of KIF1A.org and the Associate Director of Patient Engagement at Ovid Therapeutics, Luke has learned that asking for help and creating strong connections in the rare disease community are critical for navigating the challenges that arise after diagnosis.

This episode is the second in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit—and an important follow-up to Episode 4, “Taking on Rare as a Family,” in which Justin Hastings spoke about living with familial chylomicronemia syndrome (FCS). In August 2018, Waylivra® (volanesorsen sodium) was slated to receive final approval from the Food and Drug Administration (FDA) and become the first-ever therapy specifically for the treatment of FCS. Instead, Akcea Therapeutics, the company that makes Waylivra, received a complete response letter (CRL) from the FDA, rejecting approval of the drug, causing a wave of surprise, shock, and upset for everyone affected. Hear how the FCS community is responding and how it’s working together—stronger than ever—to help Waylivra receive approval in the future.

Rare disease is a specialized field. You may wonder how some doctors or executives choose this career path. While Dr. Ed Kaye started out caring for pediatric patients living with rare diseases, he moved into key leadership roles at biopharma companies that develop groundbreaking therapies to treat them. Dr. Kaye shares his unique industry perspective and the important things he has learned from both his successes and failures along the way.

This episode is the first in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit—the largest worldwide gathering of rare disease patients, advocates, and thought leaders. First, Angie Rowe, Interim Executive Director of Global Genes, reflects on how exciting it is to spend time at the conference after all of her team’s hard work in bringing it to life. She also talks about how the summit inspires and empowers attendees, newcomers and veterans alike. Next, we hear from 2 first-time summit attendees, Christine Von Raesfeld, who was diagnosed with a bleeding disorder called thrombotic thrombocytopenic purpura at the age of 14, and Amanda Jaksha, mother of a child who was diagnosed with CDkl5 deficiency in 2012. After just a few hours at the summit, these women speak about the electricity and camaraderie at this event that make it unique.

Episode 7 — Blood brothers and sisters: the bond of hemophilia A by Cambridge BioMarketing

Episode 6 — Two rare: fighting Marfan and Ehlers-Danlos by Cambridge BioMarketing

Gain a deeper understanding of Sturge-Weber syndrome by seeing it through the eyes of 13-year-old Olivia, whose younger brother, Jameson, has the rare neurological disorder. As they balance fun-filled times with the realities of living with a rare disease, these siblings share a bond that’s as powerful and pure as it gets.

After a decade of frequent bouts of acute pancreatitis, including 30 hospitalizations and many painful episodes at home, it was Justin’s wife Naomi who helped lead their physician to a diagnosis of familial chylomicronemia syndrome (FCS).

After years of misdiagnosis by physicians, Patty diagnosed her daughter’s Ehlers-Danlos syndrome through her own independent research. Since then, she’s worked tirelessly to advocate for the rare disease community, inspiring truly rare artwork along the way.

When two of Jenn’s children were diagnosed with Duchenne Muscular Dystrophy (DMD), it changed her life. Since then, she’s fought for access to clinical trials and new treatments and inspired others to join the cause along the way.

Those living with rare diseases refer to themselves as “zebras”. Janis is no exception. Her son Luke has a genetic mutation so rare it’s never been reported before. As her family works toward a diagnosis, she finds support among other zebras like her.