CoRDS Cast

Welcome to another episode of CoRDS Cast where Polly had the honor of sitting down with Dr. Karen Dolins, who is a registered dietician and is also a mother to her daughter who was diagnosed with Classic MSUD. We also have the privilege to sit down with Sandy Bulcher, who is a nurse and the mother to her son who was diagnosed with Classic MSUD.

In this episode we will not only get to hear about MSUD but we will also get to hear the story of these two amazing mothers and their children.

If you would like to learn more about MSUD, please visit: msud-support.org

Enjoy!

On this episode of CoRDS Cast you will hear from Andrea Johnson and Carissa Carman who are not only the co-founders of the NUS1 Foundation, but also amazing parents to their sons who are diagnosed with NUS1.

We also get the pleasure of speaking with Richard Steet who is the Director of Research at the Greenwood Genetic Center and Heather Flanagan-Steet who is the Associate Director of Research at the Greenwood Genetic Center. Richard and Heather are both heavily involved with NUS1 research and with the help of Andrea and Carissa, come together to make an impact with the NUS1 community.

For more information, please visit: https://www.nus1foundation.org/

Enjoy!

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

Enjoy!

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

Enjoy!

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!