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 connec

Episode 28 – #RareDiseaseTruth: how a hashtag is changing the conversation this Rare Disease Day

Feb 25th, 2021 34m 24s

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 outpo

Episode 27 – “It’s working time”: building Sophie’s Neighborhood

Jul 30th, 2020 34m 38s

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

Episode 26 – From diagnosis to network director—living with XLH

Jun 25th, 2020 30m 16s

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

Episode 25 – What does COVID-19 mean for the rare disease community?

Apr 9th, 2020 35m 12s

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

Episode 24 – The promise of genetic testing in rare

Mar 26th, 2020 27m 24s

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 abou

Episode 23 – Breaking through with interactive education in rare disease

Feb 27th, 2020 24m 23s

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 Na

Episode 22 – Misdiagnosed: The importance of genetic testing

Jan 30th, 2020 26m 23s

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. List

Episode 21 – From broad questions to exact answers

Dec 19th, 2019 19m 50s

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 t

Episode 20 – Taking back life by tackling diagnosis

Nov 21st, 2019 18m 4s

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

Episode 19 — Exploring transgenics—the forefront of genetic advancement in rare

Jul 18th, 2019 19m 11s

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 giv

Episode 18 — Connecting the dots in the network of rare

Jun 20th, 2019 34m 1s

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 pedia

Episode 17 — The hope that comes with a name: the power of a diagnosis

May 23rd, 2019 25m 25s

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 p

Episode 16 — Voices of ACMG: On the floor at the 2019 annual meeting

May 9th, 2019 24m 39s

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 membe

Episode 15 — The A, T, G, and C’s of genes: exploring genetics with Dr. Anthony Gregg

Apr 25th, 2019 28m 23s

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 pres

Episode 14 — “Beautifully heartbreaking”: one mom’s rare and incredible journey

Mar 28th, 2019 27m 2s

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 ri

Episode 13 — Rare Disease Day: Looking back. Forging ahead

Feb 28th, 2019 18m 50s

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 podcast

Episode 12 — When all the stars align in the fight against ALL

Jan 24th, 2019 38m 37s

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

Episode 11 — “I got here because I asked for help”: coming together in rare

Dec 20th, 2018 20m 46s

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 Susa

Episode 10 — When a rare disease treatment fails approval, what happens next?

Nov 29th, 2018 15m 25s

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 fam

Episode 9 — From physician to CEO; always a passion for rare

Nov 15th, 2018 33m 8s

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 c

Episode 8 — On location: Global Genes RARE Patient Advocacy Summit

Nov 1st, 2018 22m 10s

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 Execu

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

Oct 4th, 2018 27m 53s

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

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

Aug 30th, 2018 36m 36s

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

Episode 5 — The power of siblinghood in rare

Jul 20th, 2018 22m 26s

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 r