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 wo...
Jun 02, 2025•23 min•Season 1Ep. 51
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 w...
Jan 30, 2025•27 min•Season 1Ep. 50
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 c...
Aug 01, 2024•25 min•Season 1Ep. 49
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
Jul 13, 2024•17 min•Ep. 48
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!...
Jun 05, 2024•21 min
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!
May 01, 2024•26 min•Ep. 46
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
Apr 05, 2024•20 min•Ep. 45
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!
Aug 12, 2022•23 min•Ep. 44
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...
May 11, 2022•32 min
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 infor...
Apr 18, 2022•36 min•Season 1Ep. 42
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 b oard 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 memo...
Mar 02, 2022•24 min•Season 1Ep. 41
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 ...
Feb 01, 2022•45 min•Ep. 40
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 importa...
Jan 18, 2022•33 min•Ep. 39
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 late...
Dec 03, 2021•18 min•Ep. 38
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 i...
Nov 16, 2021•27 min•Ep. 37
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 ...
Sep 01, 2021•28 min•Ep. 36
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: ht...
Aug 09, 2021•14 min•Ep. 35
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.
Jul 01, 2021•24 min•Ep. 34
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 you...
May 28, 2021•28 min•Ep. 33
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...
May 10, 2021•24 min•Ep. 32
In today’s episode Alyssa speaks with Karen Dolins who is part of the Maple Syrup Urine Disease Family Support Group (MSUD FSG). Karen is a parent of an individual who has a diagnosis of maple syrup urine disease. Being a registered dietician, she was aware of this condition prior to her child receiving the diagnosis. We will listen to learn how Karen has had such success with her registry along with learning more about this condition.
Mar 05, 2021•26 min•Ep. 31
In this episode of CoRDS Cast, Alyssa interviews David Longman from the Tango2 Research Foundation, and Dr. Michael Sacher, who is a professor in the biology department at Concordia University. TANGO2 itself is a protein coding gene on chromosome 22 (22q11.21). TANGO2 has only recently been identified as a gene that contributes to human disease so there is not yet a deep understanding of the specifics around the underlying pathology and biochemical pathways affected. David is a loving father of ...
Feb 05, 2021•22 min•Ep. 30
In this episode of CoRDS Cast, Polly sits down with Tabitha Frank, who is the founder of the Endosalpingiosis Foundation, Inc. After Tabitha was told that she had endometriosis and would never be able to have a child, she got pregnant with her son. Complications started to arise after her pregnancy and she would soon be diagnosed with endosalpingiosis. Tabitha will not only discuss her diagnosis on this episode, but will also talk about the mental strain it puts on women who have this condition....
Jan 05, 2021•33 min•Ep. 29
On this episode of CoRDS Cast, Alyssa sits down with Kristen Groseclose and Dr. Carlos Prada with the Smith-Kingsmore Syndrome Foundation. Smith-Kingsmore Syndrome is a rare condition which is caused by mutations in the MTOR gene (mechanistic target of rapamycin), found at chromosome location 1p36. Kristen is the president of the Smith-Kingsmore Syndrome Foundation and she also has a son who had gone 15 years without receiving a diagnosis. Dr. Prada is a clinical scientist with board certificati...
Dec 03, 2020•30 min•Ep. 28
On this episode of CoRDS Cast, Alyssa sits down with the Chloe Barnes Advisory Council on Rare Diseases. We will be speaking with Erica Barnes who is the co-founder of the organization, Karl Nelson who is a Physician Assistant and also is diagnosed with a rare condition called ectodermal dysplasia, and Dr. Kris Ann Schultz who is a pediatric oncologist at Children’s Minnesota. The Chloe Barnes Advisory Council on Rare Diseases envisions a world where every Minnesota citizen living with a rare di...
Nov 03, 2020•27 min•Ep. 27
On this episode of CoRDS Cast, Alyssa and Polly sit down with Deborah Fowler who is the President and Founder of Soft Bones, Inc. Hypophosphatasia or HPP is a metabolic bone condition that most often affects the development of bones and teeth. The signs and symptoms vary widely, with mild cases causing only dental abnormalities while the more severe types have life-threatening consequences. The hallmark of the disorder is bones that become soft or weakened, causing skeletal deformities, fracture...
Oct 05, 2020•23 min•Ep. 26
On this episode of CoRDS Cast Alyssa and Polly sat down with Richard Holl who is not only the founder for the TGA project but a patient as well. TGA stands for Transient Global Amnesia which is a sudden temporary episode of memory loss. Richard will dive deep into his condition and describe what life is like living with TGA.
Sep 14, 2020•20 min•Ep. 25
Today Alyssa sits down with Taylor Kane. Taylor founded Remember the Girls after learning that more than 50% of female ALD carriers go on to develop physical symptoms--sometimes severe ones, and that many carriers of the other x-linked recessive disorders are similarly affected. Besides running her own advocacy group Taylor is also a carrier of the x-linked disease Adrenoleukodystrophy (ALD) and became an advocate for ALD families at a very young age, helping to raise over $200,000 for ALD resea...
Aug 06, 2020•29 min•Ep. 24
We hear about gene therapies and DNA technologies, but what goes on behind the scenes? What is it like to work in the industry? On this episode of CoRDS Cast, Ben sat down with Dr. James Brown who is Aldevron's Vice President of Corporate Development. Aldevron started in 1998 and is a manufacturing company implementing strategies for expanding DNA, mRNA, antibody, and protein products and production services. Among other things, Aldevron produces many of the inputs that go into gene therapies. J...
Jul 02, 2020•34 min•Ep. 23
On this podcast Alyssa sits down with Josh and Amanda Couch from the White Sutton Syndrome Foundation along with Dr. Reid Sutton. Amanda is the Co-Founder and President of the White Sutton Syndrome Foundation and Josh is both the Creative Director and Secretary of the White Sutton Syndrome Foundation. They are parents of three, the youngest of which has been diagnosed with White Sutton Syndrome. Dr. Reid Sutton is a clinical geneticist and clinical biochemical geneticist at Baylor College of Med...
Jun 04, 2020•28 min•Ep. 22
