Tune in as Polly sits down with Kearstyn Shaw and Dr. David Picketts with BFLS Incorporated.

Kearstyn's son was diagnosed with BFLS in 2021. Kearstyn has been a strong advocate for her son and her community since the diagnosis.

Dr. David Picketts is a researcher at the Ottawa Hospital Research Institute. His research is focused on understanding the role of epigenetic regulators in brain development and neurodevelopmental disorders (NDDs). Dr. Picketts works closely with Kearstyn to help find a cure and treatments for BFLS.

For more information, you can visit: www.bflsinc.com

Enjoy!

On this episode of CoRDS Cast, Polly sits down with Brianna Dose with the KBG Syndrome Association. Brianna is not only a strong advocate for her community but she also has a daughter with this rare condition. While being a pediactric nurse in neurology, she was put in the exact postition she needed to be to help her daughter and fight to find answers.

To learn more about the KBG syndrome association, please visit: kbgsyndrome.org

On today's episode, Alyssa and Polly sit down with Theresa who is a part of the Coffin Lowry Syndrome Foundation.

Theresa's son was diagnosed with Coffin Lowry Syndrome at the age of four. Theresa discusses the long journey ahead to finding a diagnosis for her son. Theresa has been a major part in growing their community with over 800 members and devoted her life to finding a cure. If you would like to learn more about the Coffin Lowry Syndrome Association, please visit: www.clsf.info

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Join us on a special podcast with Price Wooldridge as he discusses his journey navigating Lambert Eaton Syndrome (LEMS). Price is not only a strong advocate for the LEMS Family Association, but is a patient himself. Learn about his amazing journey to finding answers and living with LEMS.

To learn more about LEMS please visit: lemsfamily.org

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On this episode of CoRDS Cast, Alyssa sits down with Becky from HODA (Hypertrophic Olivary Degeneration Association). Becky is an amazing advocate in the rare disease space as her sister is diagnosed with HOD. Tune in to listen to her story.

To learn more information on HOD, please visit: hodassoc.org

On this episode of CoRDS Cast, Ben and Polly sit down to discuss the recent updates to the CoRDS registry platform and our plans for future improvements. Enjoy! 

On this exciting episode of CoRDS Cast, Alyssa sits down with Sophia Zilber from the Cure Mito Foundation and Allison Peck from Cure VCP Inc. Sophia and Allison are both very strong advocates for their foundation and have done an amazing job recruiting to their registries. Tune in to learn how they have built their registries along with different strategies to make it successful.

Contact information:

Sophia Zilber: email: [email protected] Website: https://www.curemito.org/

On this episode of CoRDS Cast, Alyssa sits down with Terry Thompson, Jameson Parker, Ed Meyertholen, and Chris Grunseich with the Kennedy’s Disease Association. Kennedy’s Disease is a defect in the ‘X’ Chromosome, and it makes testosterone almost a poison to the body. The disease is Spinal Bulbar Muscular Atrophy; more commonly known as Kennedy's Disease. Please tune in to listen to each heart felt story, and why they are each involved in rare disease research today. If you would like more information on Kennedy's Disease or have any questions, please visit: https://www.kennedysdisease.org/ 

Enjoy!

On this month's episode of CoRDS Cast, Alyssa sits down with Kasey Woleben who is one of the founders of the Cure Mito Foundation, and Sophia Zilber who is the board member, patient registry director.

Kasey and her family have started several non-profits to save their son, Will, and other children facing mitochondrial diseases like SURF1 Leigh syndrome. 

Sophia has over 15 years of experience in pharmaceutical industry and is volunteering her expertise to help the rare disease community, in memory of her daughter, Miriam.

In mitochondrial disorders, the mitochondria’s ability to convert food and oxygen into energy is impaired because of a genetic mutation in the DNA. There are over 100 different mutations that can cause this condition. 

You will not want to miss the incredible story of these two families fighting to find a cure.

To learn more about the Cure Mito Foundation, please visit: https://www.curemito.org/

On this episode of CoRDS Cast, Ben sits down with Jacquelyn Stockdale who is the mother of Isla. Isla is an amazing child living with CLN3 Batten Disease. Isla first started having issues with her eyesight and was later on seen by an ophthalmologist. Later down the road, Isla was diagnosed with CLN3 Batten Disease. Due to Isla being diagnosis early, her family was able to really focus on strengthening every day. You will want to take time to listen to this amazing heartfelt podcast of Jacquelyn and her daughter Isla’s journey. To learn more about Isla’s story please visit: www.islasfaith.com

Enjoy!