The Rare Disorder Podcast

In this episode, I chat with Ms. Hardy, a licensed, certified genetic counselor at JScreen, which is a national-nonprofit offering genetic testing and education. JScreen is a national non-profit public health initiative, based out of the Department of Human Genetics at Emory University, is now offering cancer genetic testing for BRCA and 60 other cancer susceptibility genes. These genes are associated with many types of cancer including breast, ovarian, colorectal, prostate, pancreatic and 30+ others.  The test is accessible 24/7 to all 50 states via an at-home, saliva testing with telehealth genetic counseling. They also do education and screening around reproductive carrier testing for over 200 genetic diseases.

Learn more about JScreen and its services!

Website: https://jscreen.org/

Instagram: https://instagram.com/getjscreened

In this episode, I interview Hasitha Illa, who is a fighter of Freidreich's Ataxia. Hasitha was diagnosed with a super rare disease called Friedreich's Ataxia. This is a genetic, progressive, neurodegenerative movement disorder, characterized by unsteady posture, frequent falling, and progressive difficulty of walking due to impaired ability to coordinate voluntary movements. This traumatic experience has made her into a stronger and a positive person. She loves to write and she is pretty confident on camera. So, she started a blog and a YouTube channel in order to spread awareness on disability related issues and rights! In addition, she has given multiple motivational speeches on stage as well, and hopes to continue to progress and grow in her advocacy journey! 

Follow along with her advocacy journey!

Instagram: https://www.instagram.com/lifewithhasi/

In this episode, I chat with Erin Smith, who is the Senior Patient Engagement Manager at AllStripes. Erin is responsible for running the ambassador program at AllStripes. She discusses what AllStripes does and its mission, ways patients can get involved and advocate for themselves through the ambassador program which she runs, her personal story with rare disease advocacy, and so much more! 

AllStripes’ mission is to unlock new treatments for people with rare disease. They are a medical data science company that empowers patients and communities to generate regulatory-ready evidence for drug research in rare disease. About 1 in 10 people have a rare disease, and half are children. As the first and only research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment studies from home. We do the work to collect and analyze your de-identified medical records to help power faster, better drug development for your condition. The name AllStripes was inspired by the official symbol for the rare disease community, the zebra. When we come together and learn from each other’s experiences we can push for better treatments across all rare conditions.

Learn more about AllStripes and get involved!

Website: https://www.allstripes.com/

Instagram: https://www.instagram.com/allstripes/

Learn more about Maxwell's battle with SLC6A1, and about this phenomenal organization!

Website: https://slc6a1connect.org/

Instagram: https://www.instagram.com/milestones_for_maxwell/

In this podcast, I interview Laura Romano, who is a fighter of multiple rare diseases! Laura is a 23-year-old recent graduate from Simmons University where they majored in Neuroscience. They are currently working as an assistant teacher in a preschool classroom and will begin a Master’s of Education in Early Childhood Education in January. Laura lives with Classical-like Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and Small Fiber Neuropathy. Laura has previously volunteered with the Ehlers Danlos Society and the Marfan Foundation. They are a member of the Young Adult Representatives of RDLA and a YARR Leadership Academy graduate.

Keep up with her advocacy journey!

Linkedin: www.linkedin.com/in/laura-romano-1522ba20a

In this episode, I chat with Daniel DeFabio, a co-founder and co-producer of this film festival and rare awareness event, The Rare Disease Film Festival and The Disorder Channel which features speakers from industry, medical research centers and patient advocates. He also arranged for several private and public screening events around the world of selected films from our festival, often with speakers from our films.

At the age of 12 months Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas’ story with a short documentary. That film led to Daniel co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases.

He is also the Associate Director of Community Engagement at Global Genes, an organization which provides hope for the more than 400 million people affected by rare disease around the globe. They fulfill their mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf. He leads the implementation of a new social network for those affected by and concerned with rare disease to connect, empower and inspire each. He focuses on teaching others to better communicate their rare disease stories. 

Learn more about The Disorder Channel, The Rare Disease Film Festival, and Global Genes, and get involved!

Check out their website: 

https://www.thedisordercollection.com/

https://www.rarediseasefilmfestival.com/

https://globalgenes.org/

Follow them on Instagram: 

https://www.instagram.com/disorderrarediseasefilms/

In this episode, I interview Ali, whose son, Joshua, is a young fighter of Batten Disease. Ali Glover is mum to Joshua who was diagnosed with Batten Disease CLN6 in 2020. Every day is a challenge to her family, with a child fighting this horrendous disease - she finds his courage and perseverance through everything particularly amazing and inspiring. Now, Ali has started a Facebook group for those who would like to follow along on Joshua's journey. Here, she shares, the ups, downs, raises awareness, and collects funds.

Follow along on her and Joshua's advocacy journey! 

Facebook group: https://www.facebook.com/groups/305346063468953

In this episode, I interview Lynzi, who is a fighter of Urea Cycle Disorder. Lindsey Kizer is a Carolina native from Belmont NC that loves to bake, listen to live music, spend time in her garden and with her husband and rescue pup. She was diagnosed with Narcolepsy at 29 after living with many of the symptoms for over 15 years. After being diagnosed she also was diagnosed with Fibromyalgia and Dysautonomi. She is now sharing her story to help raise awareness so that others do not have to go through the struggles she did.

Keep up with her advocacy journey!

Instagram: https://www.instagram.com/onceuponad.r.e.m/

Twitter: https://www.twitter.com/onceuponad.r.e.m/

In this episode, I interview Carly, who is a fighter of Thyroid Cancer. Carly Flumer was diagnosed with stage I papillary thyroid cancer at the age of 27 and then with refractory disease at the age of 31. She received her Master’s degree from Boston University in Health Communication and Bachelor’s from George Mason University in Health Administration and Policy. While being diagnosed with the “C” word at such a young age was a surprise, as it would be to anyone, she found strength, support, and inspiration in sharing her cancer journey on social media. As a result of her health outcome, she looks to advocate for other cancer patients through education, research, and health literacy. Thyroid Cancer is one of the rarest cancers, and affects the thyroid gland which is a butterfly-shaped structure located at the base of the neck. Learn more about this rare cancer, and hear Carly's story!

Keep up with her advocacy journey! 

Instagram: https://www.instagram.com/carlyflumer/

Twitter: https://www.twitter.com/carlyflumer/

In this Podcast, I interview Melissa, whose son, Timothy, is a young fighter of Leber Congenital Amaurosis. Learn about this rare condition, and hear his story!