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/
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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.
Enjoy!
Contact information:
Sophia Zilber: email: sophia@curemito.org Website: https://www.curemito.org/
Allison Peck: email: allison@curevcp.org Website: https://www.curevcp.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!
On this episode of CoRDS cast, Polly gets the pleasure of sitting down with Doug Strott. Doug is the founder/president of the Scheuermann’s Disease Fund and also has this condition. Scheuermann's Disease is a spinal (skeletal) disease that typically presents itself in children during adolescence. It is often noted by an accentuated curvature, or "hunched back" and if left untreated, may lead to significant health complications later in life. Doug will discuss his condition along with how important it is to advocate for rare conditions like Schueremann’s Disease. To learn more about Schueremann’s Disease please visit https://www.sdfund1.org.
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On this episode of CoRDS Cast, Alyssa sits down with Kathy Young who is a strong advocate for Myhre Syndrome and also has a daughter diagnosed with this condition. Kathy’s daughter was diagnosed with Myhre Syndrome seven years ago and at this time there was not an organization or group created for this condition. Being less than 200 diagnosed with this condition, Kathy started a Facebook group where she could connect with people diagnosed with Myhre Syndrome. Creating a Facebook group would later on help set up a Myhre clinic at Mass General Hospital.
Enjoy!
In our November edition of CoRDS Cast, Alyssa sits down with Kristie DeMarco who is the president and founder of the Global DARE Foundation. In 2019 Kristie was diagnosed with Refsum through genetic testing. In two years she went from an iron man triathlete to walking in constant pain along with losing peripheral vision and sense of smell. Refsum is a genetic disorder that affects the metabolism of Phytanic Acid which is found in foods like red meat, dairy, and fish. Symptoms of this condition include retinitis pigmentosa, loss of smell, hearing loss, neuropathy, ataxia, and itchy skin. Early diagnosis is critical to get the specific diet for Refsum to slow down symptoms.
We are starting off September with a very inspiring story of two fathers who have children with Cystinosis. On this episode of CoRDS cast, Alyssa sits down with Clay Emerson and Stephen Jenkins. Clay is a father to 6 year old Brooke who was diagnosed with Cystinosis at just 16 months. Stephen is a father of two sons diagnosed with Cystinosis, Sam and Lars. Cystinosis is a rare genetic metabolic disease that causes the amino acid, cysteine, to accumulate within the body’s cells. The build-up can cause damage to the tissues and organs including the kidney, eyes, muscles, liver and brain. Tune in to hear about the journey that Clay and Stephen took to become strong advocates for their children and for the community.
On this episode of CoRS Cast, Polly sits down with Robin Henry who is a strong advocate for DDX3x and also has a daughter, Lanie, with this condition. DDX3x Is caused by a spontaneous mutation at conception. This condition Primarily affects girls due to its location on the X-chromosome, though there are affected boys. Robin continues to be a strong advocate for her daughter’s condition and started a Facebook group called Gene DDX3x. For more information regarding this condition you can visit: https://ddx3x.org/
On this episode of CoRDS Cast, Alyssa sits down with Breanna, who is a strong advocate for RERE Syndrome. Breanna’s daughter, Loghan is one of 30 diagnosed in the entire world with this condition. If you would like to follow Loghan and Breanna’s story, you can visit her Facebook page, Learning with Lolo. If your child has been diagnosed with RERE syndrome or you are looking for support, please visit RERE Syndrome on Facebook.
On this episode of CoRDS Cast, Alyssa sits down with Haley Oyler and Lindsey Noonan to discuss the rare conditions their sons have, SETBP1.
Haley is the president and founder for the SETBP1 Society which brings awareness to this condition and unites families and researchers. While working with the SETBP1 Society, Haley also has a son with this condition and was diagnosed about 5 years ago with little information out there. Her hard work has paved the way for families to find a diagnosis at a young age.
Lindsay has a son with SETBP1 and was diagnosed at 7 months. Due to being diagnoses at such a young age, they were able to start early working on some of the issues that go along with this condition. Because of people like Haley, Lindsey’s son was one of the youngest children diagnosed with SETBP1.
This year on June 12th, 2021 the SETBP1 Society will participate in the Virtual Million Dollar Bike Ride. This annual festival brings together rare disease families, friends and supporters to raise funds for rare disease research and to spread awareness of rare disease. For more information please visit: https://www.setbp1.org/mdbr/
If you would like more information on SETBP1, you can visit: www.setbp1.org.
Thank you for listening!
On this month’s episode of CoRDS Cast, Alyssa sits down with Caroline Yiu. Caroline’s son Alex, was diagnosed with a very rare neurodegenerative disorder called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.) This condition is caused by a spontaneous mutation in the IRF2BPL gene. Caroline’s family went on a 10 year journey to find a diagnosis for her son Alex. Caroline is also an advocate for families with children fighting chronic complex medical issues without a diagnosis but also those with rare diseases. For more information on resourses about the challenges of being undaignosed or diagnosed with a rare disorder you can visit: https://www.cureundx.com/. To hear more about Alex’s journey, please visit: https://www.alexsodyssey.com/