Rare disease patient leader shares about his journey with cystic fibrosis and how he utilizes his experience to advocate for the community.
All in Rare Disease
#141 Stan Crooke on Ultra Rare Disease Drugs
Biotech titan Dr. Stan Crooke, who developed 20+ drugs, shares about his new n-Lorem Foundation.
#140 Patti Hall on Gigantism
Author of “Loving Large” shares her son’s rare disease diagnostic odyssey.
#115 Dr. Daria Julkowska on The European Joint Program on Rare Diseases
Celebrate Rare Disease Month with the Coordinator of the EJPRD discussing rare disease research.
#102 Seth Rotberg on Huntington Disease
Patient Advocate and Motivational Speaker shares his journey with Huntington Disease.
#98 Lydia Seiders on Aplastic Anemia
Maryland State Ambassador for NORD brings her passion for patient advocacy for the rare disease community including her daughter known as #EmmaStrong.
#96 Jim Cavan on Backpack Health
A mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.
#95 Kieger Family on Familial Adenomatous Polyposis
Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome.
#93 Team Telomere
A community for telomere biology disorders discusses dyskeratosis congenita.
#77 Rare Disease Day 2018
Recap of CT’s event and interviews with Angelman Syndrome and ALD patient advocates
#75 Eden Lord on My City Med
Rare Disease advocate and caregiver shares on the resources she has created.
#74 Antonio Maltese on Huntington's Disease
Patient Advocate shares his pre-symptomatically genetically diagnosis and the latest breakthrough in research
#70 Heather Z on Cowden Syndrome
Patient advocate shares about her two rare brain tumors and hereditary cancer syndrome.
#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival
Daniel speaks about the films to be screened at the festival and the film he produced about his son's rare disease, Menkes Disease.
#63 Rare Disease Day 2017
NORD's event in Hartford is recapped including interviews with a patient advocate, Michelle Cotton, and a Connecticut representative, Dave W. Yaccarino.
#60 Dan Donovan on Onevoice
Co-Founder/CEO of Onevoice shares how his new community building software solution supports the rare disease community.
#52 Charcot Marie Tooth Interview
Patient advocates Bernadette Scarduzio and Allison Moore share about CMT, their documentary and the Hereditary Neuropathy Foundation.
#41 Rare Disease Day 2016
February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd.
#39 Sun Kissed & Kardashian's Genetic Testing
On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum.