Released Feb 28, 2018

About this episode

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.

Guest

Janis Creedon

Mother to her young son Luke, who has an undiagnosed rare genetic connective tissue disorder, Janis is an active and passionate fundraiser, advocate, and speaker for the rare disease community.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Feb 28, 2018

About this episode

When 2 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.

Guest

Jenn McNary

Mother to 2 sons who have a rare disease known as DMD, Jenn works with the rare disease community to advocate for patients to get early and compassionate access to treatments that may improve and prolong their lives.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Feb 28, 2018

About this episode

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.

Guest

Patty Weltin

Mother to 2 daughters with Ehlers-Danlos syndrome, Patty is CEO and founder of the Rare Disease United Foundation, the nation's leading rare disease advocacy organization, working on the challenges facing patients at a state and national level.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jun 25, 2018

About this episode

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).

Guest

Justin Hastings

Justin is grateful and proud to be taking on FCS as a family with his wife and 3 daughters. As an FCS Foundation team member, Justin extends this sense of family support to help others navigate their FCS journey.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jul 24, 2018

About this episode

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.

Guest

Olivia Melo

Olivia spends most of her days just like any other eighth grader: going to school, doing homework, and playing soccer. But unlike most kids, she has learned a lot about Sturge-Weber syndrome, symptoms such as seizures, and how she can protect and support her brother.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Aug 30, 2018

About this episode

Diagnosed with both Marfan syndrome and Ehlers-Danlos syndrome, Jon spent years coming to terms with the effects of these rare diseases. As he made the difficult decision to leave his career behind, he uncovered new focus and passion in patient advocacy and educating others about what it’s like to live with rare.

Guest

Jon Rodis

Jon was diagnosed with Marfan syndrome at an early age, and with Ehlers-Danlos syndrome later in life. Today, he leads and participates in several support, advocacy, and advisory groups, proudly sharing his decades of experience with the rare community.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Oct 4, 2018

About this episode

At the age of 2 weeks, Christian was diagnosed with hemophilia A, a rare blood disorder that has some serious risks. Since childhood, Christian and his family have taken on challenges together and have created a rewarding and unbreakable bond with the hemophilia community.

Guest

Christian Mund

Currently a young professional working in Boston, Christian reflects on the only life he’s known: living with hemophilia A. From his “first bleed” to managing infusions as a child and an adult, Christian shares what he has learned along the way.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Nov 1, 2018

About this episode

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.

Guests

Angie Rowe, Christine Von Raesfeld, Amanda Jaksha

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.

Host

Andra Stratton

Andra Stratton is the President and Co-founder of Lipodystrophy United and host of the Rare in Common podcast. When she suggested taking the studio “on the road” from Boston to Irvine, California, to talk to attendees of the 2018 Global Genes RARE Patient Advocacy Summit, we loved the idea, set ourselves up in a mobile studio, and were honored to be on-site—right by the action—to capture so many incredible stories.

Released Nov 15, 2018

About this episode

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.

Guest

Dr. Ed Kaye

CEO of Stoke Therapeutics and former CEO of Sarepta Pharmaceuticals, Dr. Ed Kaye’s extensive career in the biotech industry is driven by one thing—his unwavering commitment to patients with rare diseases. Since 2001, Dr. Kaye has been a part of 6 different teams that have had 6 drugs approved for the treatment of rare diseases. And, if he has it his way, he’s not done yet.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Nov 29, 2018

About this episode

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 US 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.

Guests

Lindsey Sutton and Melissa Goetz

Our guests are co-presidents of the FCS Foundation, an organization that offers information, resources, and support to people living with FCS, along with their caregivers and family members.

Lindsey Sutton was diagnosed with lipoprotein lipase deficiency when she was 5 weeks old, and has faced a lifetime of symptoms, including frequent bouts of pancreatitis, that can come with having extremely high triglycerides associated with the disease. Lindsey shares her candid reaction to the Waylivra delay and what it could mean for her as someone living with FCS.

Melissa Goetz is a mother of 3. Her middle daughter, Giuliana, was diagnosed with FCS when she was 3 weeks old. She experienced pancreatitis and infections in her liver and kidneys soon after, but, for now, remains symptom-free with close management of her triglyceride level through diet. Melissa shares what it’s like, as a parent with high hopes for the availability of a treatment for her daughter’s disease, to deal with the news that Waylivra was not approved.

Host

Andra Stratton

Andra Stratton is the President and Co-founder of Lipodystrophy United and host of the Rare in Common podcast. When she suggested taking the studio “on the road” from Boston to Irvine, California, to talk to attendees of the 2018 Global Genes RARE Patient Advocacy Summit, we loved the idea, set ourselves up in a mobile studio, and were honored to be on-site—right by the action—to capture so many incredible stories.

Released Dec 20, 2018

About this episode

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 people with rare diseases, 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.

Guest

Luke Rosen

Luke Rosen is a former television actor, theater actor, and writer turned full-time patient advocate. His daughter Susannah was diagnosed with a mutation of her KIF1A gene when she was 2 years old. Her rare neurogenerative disease has caused her to have a seizure disorder, a movement disorder, and some optic nerve atrophy. There is no cure or treatment for this progressive condition—“yet,” as Luke says. Now, his organization, KIF1A.org, is working to raise awareness and money to accelerate research and discover treatment for every child living with this disease.

Host

Andra Stratton

Andra Stratton is the President and Co-founder of Lipodystrophy United and host of the Rare in Common podcast. When she suggested taking the studio “on the road” from Boston to Irvine, California, to talk to attendees of the 2018 Global Genes RARE Patient Advocacy Summit, we loved the idea, set ourselves up in a mobile studio, and were honored to be on-site—right by the action—to capture so many incredible stories.

Released Jan 24, 2019

About this episode

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 had 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.

Guest

Eve Pallang

Soon after she started working as a nurse at the age of 33, Eve was diagnosed with ALL, a highly malignant cancer that usually occurs in children. She became “the patient,” found a match in her brothers for a stem cell transplant, and experienced veno-occlusive disease, one of the procedure’s most serious complications. Today, 3 years into remission, Eve is happy, working as a nurse again, and enjoying life with her husband and recently adopted baby girl.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Feb 28, 2019

About this episode

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.

Released Mar 28, 2019

About this episode

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 mucopolysaccharidosis II, or Hunter syndrome, as “beautifully heartbreaking”—a sentiment that rings true for so many parents raising children with rare diseases.

Guest

Melissa Hogan

When Case was diagnosed 9 years ago, the focus of Melissa’s life abruptly changed. She redirected the skills she had been using in her career as a lawyer and strategic consultant to advocate for her son’s needs and get him into a clinical trial. To help other families of children with Hunter syndrome, Melissa writes about her experiences on a blog, started a nonprofit organization called Project Alive, and has written 2 books. Her incredible efforts were recognized at the Global Genes Patient Advocacy Summit in October 2018, where she was the RARE Championship of Hope Honoree.

Host

Andra Stratton

Andra Stratton is the President and Co-founder of Lipodystrophy United and host of the Rare in Common podcast. When she suggested taking the studio “on the road” from Boston to Irvine, California, to talk to attendees of the 2018 Global Genes RARE Patient Advocacy Summit, we loved the idea, set ourselves up in a mobile studio, and were honored to be on-site—right by the action—to capture so many incredible stories.

Released Apr 25, 2019

About this episode

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.

Guest

Anthony Gregg, MD

The incoming president of ACMG, Dr. Gregg is an MD, MBA, fellow of the American College of Obstetricians and Gynecologists, fellow of ACMG, and both chair of the department of obstetrics and gynecology and chief of the division of maternal and fetal medicine at Baylor University Medical Center in Dallas.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released May 9, 2019

About this episode

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.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released May 23, 2019

About this episode

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.

Guest

Kim LeBlanc

A genetic counselor by training, Kim LeBlanc is the associate director of research operations for the UDN Coordinating Center. UDN is a group of clinical and research centers across the United States that work together to solve the toughest medical mysteries. Kim’s team, a part of the Department of Biomedical Informatics at Harvard Medical School, provides support for patients and referring healthcare providers.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jun 20, 2019

About this episode

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.

Guests

Dr. George Diaz, MD, PhD
A practicing pediatrician, Dr. George Diaz is a professor at the Icahn School of Medicine and the Division Chief of Medical Genetics in the Department of Genetic and Genomic Sciences at Mount Sinai Hospital in New York.

Dr. Katy Phelan, PhD, FACMG
A founding fellow of ACMG, Dr. Katy Phelan is the Director of Cytogenetics at Florida Cancer Specialists and founder of the Phelan-McDermid Syndrome Foundation.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jul 18, 2019

About this episode

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 Clinical Genetics Meeting, Dr. Shula Jaron explains how transgenics gives 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.

Guest

Dr. Shula Jaron, PhD

A scientist by training, Dr. Jaron is now the Vice President of Business Development at NemaMetrix, an Oregon-based company that uses transgenics for the purpose of disease research and drug discovery through the use of animal models.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Nov 21, 2019

About this episode

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.

Guest

Onno Faber

Onno Faber is the founder of RDMD, an organization dedicated to finding answers for patients with rare diseases. Diagnosed with a rare disease himself, Faber has taken precision medicine to the next level. Now, he wants to help thousands more.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Dec 19, 2019

About this episode

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.

Guest

Melanie O’Leary, MS, LGC

Melanie O’Leary is the Senior Clinical Manager at the Broad Institute. There, she works as a genetic counselor as part of the Rare Genomes Project, a patient-driven research study that is dedicated to finding a diagnosis, with the use of sequencing technologies, for those with suspected but undiagnosed genetic conditions.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jan 30, 2020

About this episode

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.

Guests

Toni Pollin, PhD, CGC

Toni Pollin is a human geneticist and board-certified genetic counselor, as well as an associate professor at the University of Maryland School of Medicine. She focuses her research on understanding the genetic causes of diseases, with a special interest in type 2 and monogenic diabetes. Through her research, Pollin seeks to find the best way to see that patients get a correct and timely diagnosis and treatment for monogenic diabetes.

Susie Perkowitz

Susie Perkowitz is a patient living with monogenic diabetes. After being misdiagnosed and incorrectly treated for the wrong type of diabetes for 3 years, she has since become an award-winning speaker and advocate for those sharing her rare disease.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Feb 27, 2020

About this episode

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.

Guest

Debra Regier, MD

Debra Regier is the director of education at Children’s National Medical Center in Washington, DC. There, she supports her patients and their families, and looks for ways to better educate people at all levels about rare disease.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Mar 26, 2020

About this episode

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.

Guest

Joe Alaimo

Joe Alaimo is a clinical laboratory geneticist at Children’s Mercy Hospital in Kansas City, Missouri. There, he analyzes data and looks for genetic mutations in DNA in order to educate patients about their rare diseases, as well as provide them with answers.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Apr 9, 2020

About this episode

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.

Guests

Neena Nizar, EdD

Neena Nizar is the founder and president of The Jansen’s Foundation, an organization dedicated to helping find a cure for Jansen disease—a disease she shares with her two children. Now a prominent advocate, Neena is driven by the desire to give her children a chance at a pain-free childhood.

Seth Rotberg

After testing positive for Huntington disease at the age of just 20, Seth Rotberg used his diagnosis as motivation. Seth is a founder of Our Odyssey, an organization that connects young adults impacted by a rare or chronic condition with social and emotional support. He also advocates for the Huntington disease community through speaking, fundraising, and other volunteer efforts.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jun 25, 2020

About this episode

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.

Guest

Susan Faitos

Susan Faitos is the executive director of the XLH Network. Not only does Faitos have a professional background in mental health, but she lives with XLH and advocates for its community. Throughout the COVID-19 pandemic, the XLH Network has created innovative ways to bring the community together while remaining physically distant—including adjusting their recent XLH Awareness Day activities.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Jul 30, 2020

About this episode

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 its next fundraiser on August 15, 2020. Click here to learn more.

Guests

Lauren and Hosea Rosenberg

Lauren and Hosea Rosenberg are entrepreneurs and restaurant owners living in Boulder, Colorado. Since Hosea won season 5 of Bravo’s Top Chef, the couple has opened multiple acclaimed restaurants. Now, they turn their attention to fundraising to support research into treatments for their daughter’s ultra-rare genetic condition.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Feb 25, 2021

About this episode

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.

Guest

Neena Nizar, EdD

Neena Nizar is the founder and president of The Jansen’s Foundation, an organization dedicated to helping find a cure for Jansen disease—a disease she shares with her 2 children. Now a prominent advocate, Neena is driven by the desire to give her children a chance at a pain-free childhood.

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.

Released Apr 28, 2022

About this episode

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.

This episode is brought to you by Catalyst Pharmaceuticals.

Guest

Tescha Carr

From being a competitive athlete to working as a physician’s assistant in the emergency room, Tescha has always thrived in fast-paced environments, but unfortunate complications with her LEMS forced her to leave her job in 2019. Despite adopting a new lifestyle, Tescha’s competitive spirit lived on through the new skills she pushed herself to learn. She firmly believes if something isn’t going your way, “try again tomorrow.”

Host

Andra Stratton

Since her diagnosis of partial lipodystrophy at age 37, Andra has become a voice for her community—first, through the creation of Lipodystrophy United and, now, through public outreach and national awareness campaigns.