CoRDS Cast

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 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 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. 

Enjoy! 

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 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.

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.

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. Her mission is to spread awareness and advance research for endosalpingiosis. Enjoy!

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 certifications in pediatrics, genetics, and biochemical genetics. Due to the advancement of genetic testing and efforts from medical professionals like Dr. Prada, children are being diagnosed at a much younger age. The Groseclose’s family have a hope to build a structure of a foundation that will impact families to come.  Enjoy!

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.

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 research.  This is a podcast you will not want to miss. Enjoy!

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.  Join us as we take a dive into development services and custom manufacturing of nucleic acids, proteins and antibodies that provide companies with essential components for research, clinical and commercial applications.  Enjoy!

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 Medicine & Texas Children’s Hospital in Houston. In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, he worked with graduate student Janson White on a number of projects, including the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, that the Online Mendelian Inheritance in Man (OMIM) has designated “White-Sutton Syndrome”

In this episode, Alyssa and Polly sat down with Carol Roberts from the PBCers Organization.  You'll hear Carol share information on her organization and her journey as a rare disease patient diagnosed with Primary Biliary Cholangitis (PBC) which leads to cirrhosis of the liver.  Carol will lead us though her experience as an advocacy leader and a patient.  We hope you enjoy!

In this episode, Alyssa speaks with Stacey Reason and Andrew Wakelin with the IamGSD organization.  Stacey and Andrew are both diagnosed with one of the muscle GSDs that we cover in this episode, McArdle disease.  You'll hear about their advocacy efforts through IamGSD and learn about the diesease from their perspectives as patients.  Enjoy!

In this episode Alyssa sat down with Christal Delagrammatikas with the Malan Syndrome Foundation, and Dr. Richard Gronostajski who is the Director of the genetics, genomics & Bioinformatics Graduate Program at the University of Buffalo.

Christal connected with Dr. Gronostajski which got him involved with Malan syndrome and further research. Here, you'll learn more about Malan syndrome and the efforts behind it as we dive deeper into the pod cast.

In this episode, Alyssa and Polly spoke with Nathan Peck, the founder of Cure VCP Disease, Inc. and with Dr. Chris Weihl, a professor of Neurology at Washington University School of Medicine in St. Louis.  VCP disease is a complex degenerative disorder that involves multiple aspects ranging from muscle fatigue to dementia.  In this discussion, you'll learn about current research, the role and impacts patients have on therapy development, and get to hear from two of the men fighting to raise awareness.  Enjoy!  

In this episode, Alyssa and Polly interviewed Wendy Giebink and Mallory Kloucek from the South Dakota chapter of NAMI, the National Alliance on Mental Illness.  While not often discussed, mental illness and rare disease may go hand in hand - especially in cases of depression and anxiety.  Here, Wendy and Mallory discuss the free programming offered by NAMI to provide education and counseling to those living with mental illness.  Hope comes through talking about struggles, and out of hope comes healing.  We hope you enjoy!

In this episdode, we met with co-founders, Seth Rotberg and Kristina Wolfe, to discuss their newly founded organization called Our Odyssey.  The foundation serves the needs of young adults living with rare and/or chronic conditions.  Together, Seth and Kristina have a vision for meeting the overall needs of this niche community within the rare and chronic healthcare space.  This is an information packed episode - enjoy!

For more information on Our Odyssey, visit them at www.ourodyssey.org.

In this joint podcast episode, Ben visited with Megan Meyer and Matty Manley, both moms to children living with a congenital muscular dystrophy (CMD).  You may know Megan and Matty from their podcast, "Two Rare Mama Bears," and we were so excited when they asked us to do a joint episode!  You'll hear discussion about summer weather in the midwest, the flow of events during Rare Disease Week on Capitol Hill, the mission of Cure CMD, and a bit about the CoRDS Registry too.  We hope you enjoy this episode - and be sure to subscribe to Matty and Megan's podcast at curecmd.org/podcast.  

In this second part of Episode 14, Ben met once again with Dr. Sotirios Keros.  On this interview, they were joined by Breteni Morgan-Berg, the mother of Kamiyah, a patient living with a mutation in the KCNMA1 gene.  You'll hear a powerful story of a family's life on the diagnostic odyssey, finding a diagnosis, and Breteni's relentless effort to do everything she can for her daughter.

In part one of this two-part episode, Ben and Alyssa interviewed Dr. Sotirios Keros.  He is a passionate pediatric neurologist with a background in neuroscience research.  Through his clinical experience, Dr. Keros has become involved in research into a family of disorders related to mutations in the KCNMA1 gene.  In this episode, you'll learn about the gene and related disorders, current research in the space, and a unique perspective on patient advocacy from a very passionate physician scientist.  Enjoy!

In this episode, Austin and Ben spent some time with Jaime Husher from Sanford Health's Health Information Management Department.  Sanford HIM is responsible for maintaining and distributing each patient's medical record.  Jaime provides great insight into working with multiple healthcare systems to retrieve records, making effective requests for information, and ensuring that you have everything you need to take to a new clinic appointment.  This episode is packed with great information on a very important topic!  Enjoy!

In this episode, Austin and Alyssa speak with Roberta Smith, the President of the Alagille Syndrome Alliance, and Dr. Kamesh Surendran of Sanford Research.  Alagille Syndrome is a devastating rare genetic disorder that affects multiple organ systems.  Roberta is both a parent of a child affected by Alagille Syndrome, and a tireless advocate who brings a refreshing perspective on advocacy for rare disorders.  Dr. Surendran leads a team of researchers at Sanford who study developmental biology.  One of the main projects of his laboratory is investigating the genetics behind Alagille Syndrome, and they seek to learn more about the kidney phenotype of the disorder.  There is a ton of information in this installment of CoRDS Cast - enjoy!

In this episode, Austin and Alyssa interviewed Bonnie Royster, the Executive Director of the CdLS Foundation, and Dr. Rich Haaland, who serves as the Chair of the CdLS Foundation Research Committee.  You'll learn about the condition, some of the research activities currently going on, and hear from Bonnie and Rich on what the CdLS Foundation does to serve families affected by the syndrome.  Enjoy!

Austin interviews the President & Founder of All Things Kabuki, Rene King, to learn more about the condition and what the group does to raise awareness and advocate for families living with Kabuki Syndrome.  Joining them in the interview is Olaf Bodamer, MD PhD FACMG FAAP.  Dr. Bodamer is the Director of the Roya Kabuki Program at Boston Children's Hospital and leads a team of dedicated scientists and professionals to nurture a better understanding of the disease and develop treatments to better the lives of Kabuki patients.

In this episode, Austin interviews Sharon Rose Nissley and Emily Lemiska from Klippel-Feil Syndrome Freedom about life with Klippel-Feil Syndrome and becoming patient advocates.  The group is also joined by Dr. Philip Giampietro, a medical geneticist and researcher, who has worked closely with both Sharon and Emily in their efforts to draw more of a research focus to Klippel-Feil Syndrome.  Thanks again for listening - enjoy!