Rare Mamas Rising

A podcast for mothers of children with rare diseases to find support, advice, community, and hope! Join Rare Mamas founder and podcast host, Nikki McIntosh as she talks with remarkable rare moms rising from difficult diagnoses for their children. Catch an episode of Rare Mamas Rising and walk away encouraged, uplifted, and empowered!

Mother’s Day Episode: On Bonding and Being There 05/08/2024

Paying It Forward with TSC Alliance Director of Community Support and Outreach Shelly Meitzler 03/13/2024

Transforming Love Into Advocacy 02/14/2024

Charting the Unknown - Navigating the New Year Amid Uncertainty 01/17/2024

Navigating Grief and Healing with Normal Broken Author Kelly Cervantes 12/13/2023

A Rare Adoption Story with Rare Mama Monica Poynter 11/15/2023

10 Minutes with Rare Mama Teri Furey - Larsen Syndrome Mom 10/18/2023

Demystifying Differences with Author, Speaker, and Rare Mama Megan DeJarnett 09/13/2023

Back-to-School Tips with Rare Mama Nikki McIntosh 08/16/2023

Mid-Year Reset with Rare Mama Nikki McIntosh 07/19/2023

A Moving Mission with The Stiff Person Syndrome Research Foundation Founder and President Dr. Tara Zier 06/21/2023

A Moving Mission with The Stiff Person Syndrome Research Foundation Founder and President Dr. Tara Zier RARE MAMAS RISING- EPISODE 28 A Moving Mission with The Stiff Person Syndrome Research Foundation Founder and President Dr. Tara Zier In 2017, Dr. Tara Zier, a graduate of the VCU School of Dentistry and Virginia Tech, a black belt in karate, and a mother of two, was forced to leave a twenty-year career in dentistry and stop the practice of karate due to Stiff Person Syndrome. Today, Zier is the founder and president of The Stiff Person Syndrome Research Foundation (SPSRF), which she established in 2019 to raise awareness and funds for better treatments and a cure. In 2021, The SPSRF was selected to receive a three-year “Rare As One” grant from the Chan Zuckerberg Initiative, and in 2022, Zier established a Medical Advisory Board, including neurologists from Mayo Clinic, Johns Hopkins Medicine, and others. Zier and The SPSRF have been featured in The Washington Post, Voice of America, ABC News in Washington, and various media outlets worldwide. In this episode, Dr. Zier exudes strength of purpose as she fights for treatment and better quality of life for those with Stiff Person Syndrome. She won’t be still as she moves forward on her mission! EPISODE HIGHLIGHTS All about Stiff Person Syndrome and why so many patients go through a diagnostic odyssey The Stiff Person Syndrome Research Foundation’s mission and future plans How Dr. Zier juggles motherhood, running The SPSF, and being a patient How Celine Dion’s Stiff Person Syndrome diagnosis elevated SPS awareness Where Dr. Zier finds hope and motivation How Dr. Zier has learned to put firm boundaries around her time and energy Dr. Zier’s best advice to other rare mamas LINKS & RESOURCES MENTIONED The Stiff Person Syndrome Research Foundation Website: Twitter: Instagram: Facebook: LinkedIn: Chan Zuckerberg Rare As One Initiative Celine Dion Announces Stiff Person Syndrome Diagnosis CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/27216216

Mother’s Day Episode - Enduring, Planting, and Blooming with Rare Mama Nikki McIntosh 05/10/2023

Driving Discoveries with Principal Investigator at Seattle Children’s Research Institute and Assistant Professor Department of Pediatrics, Division of Genetic Medicine at the University of Washington and Rare Mama Kim Aldinger RARE MAMAS RISING- EPISODE 26 Driving Discoveries with Principal Investigator at the Center for Integrative Brain Research at Seattle Children’s Research Institute, Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington & Rare Mama Dr. Kim Aldinger Dr. Aldinger is a Principal Investigator in the Center for Integrative Brain Research at Seattle Children’s Research Institute and an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at The University of Washington. She received a BA in biology from Brandeis University, an ALM in psychology from Harvard University, and a Ph.D. in neurobiology from The University of Chicago. Dr. Aldinger has over 20 years of research experience applying neuroscience and genomics techniques to understand the impact of genetic changes on the development of brain structures and functions relevant to neurodevelopmental disorders. She is also the mom of twins Chloe and Grayson. Grayson has a rare genetic disease called MAST4. Dr. Aldinger understands the impact of a rare disease from both a professional, scientific perspective and a personal parent viewpoint. Her deep roots in research, coupled with her passion to contribute to the rare disease community, make her one to watch as she helps drive discoveries! EPISODE HIGHLIGHTS Dr. Aldinger’s path to becoming a brain researcher The work Dr. Aldinger does as a Professor of Genetic Medicine and as a Principal Investigator Grayson’s diagnostic journey and MAST4 diagnosis How Dr. Aldinger co-founded the MAST Genes Research Foundation and the work she’s doing on MAST genetic mutations How being a mom to a child with a rare condition informs Dr. Aldinger’s work Advice for rare parents on how to approach research Dr. Aldinger’s best learnings for fellow rare mamas LINKS & RESOURCES MENTIONED Kimberly Aldinger Twitter: MAST Genes Research Foundation Website: Facebook: Twitter: Seattle Children’s Research Institute The University of Washington American Epilepsy Society Global Genes CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/26656293

Rare Mamas Rising Reflections with Rare Mamas® Creator, Podcast Host and Rare Mama Nikki McIntosh 03/15/2023

Charging the Rare Community with The Disorder Channel Co-Founder, Global Genes Director of Community Engagement, Menkes Syndrome Advocate and Rare Dad Daniel DeFabio 02/15/2023

Charging the Rare Community with The Disorder Channel Co-Founder, Global Genes Director of Community Engagement, Menkes Syndrome Advocate and Rare Dad Daniel DeFabio RARE MAMAS RISING- EPISODE 24 Charging the Rare Community with The Disorder Channel Co-Founder, Global Genes Director of Community Engagement, Menkes Syndrome Advocate & Rare Dad Daniel DeFabio At the age of 12 months, Daniel’s first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like, Daniel began telling Lucas’s story with a short documentary film. That film led to Daniel Co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing rare diseases. One of Daniel’s stories about Lucas won the 2015 Global Genes Rare Patient Story Award. Daniel was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet’s first animated series. He has created videos and marketing materials for bio-techs, hospitals, and most major movie studios, as well as American Cinematographer, PBS, TNT’s “The Closer,” and HBO’s “Curb Your Enthusiasm.” He has also served as a blogger in residence for Courageous Parents Network. Daniel currently works as the Director of Community Engagement for Global Genes. Engaging the rare community is his forte, indeed! Whether telling his own story or helping others tell theirs, Daniel is a magnetic force attracting, connecting, and charging the rare community. EPISODE HIGHLIGHTS The path to Lucas' Menkes Syndrome diagnosis The Disorder Channel and its mission Why telling our stories is important Global Genes programs and resources What being in the rare community means to Daniel Daniel's best learnings for other rare parents LINKS & RESOURCES MENTIONED Daniel DeFabio Menkes Syndrome DISORDER Global Genes Courageous Parents Network CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/25891407

Modeling Rare Advocacy with Thalassemia Advocate and Rare Mama Maria Hadjidemetriou 01/18/2023

Finding Meaning and Purpose with STXBP1 Foundation Director of Development and Rare Mama Melissa Hioco 12/07/2022

Lifting Her Voice and Envisioning Change with Through Evely’s Eyes Founder and Rare Mama Tameka Diaz 11/16/2022

Ten Minutes With A Rare Mama- Amanda Brundage, UFC Fighter and ALG13 Mom 10/05/2022

A Big Reason to Be Here with FOXG1 Research Foundation Co-Founder, Executive Director, and Rare Mama- Nicole Johnson 09/07/2022

Elevating Our Advocacy with Rare Action Network State Ambassador, Cure SMA Social Work Manager and Rare Mama Danyelle Sun 08/03/2022

Turning Pain into Purpose with The Avalon Foundation President, Hypophosphatasia Advocate, Life Coach, and Rare Mama Deb Ayres 07/13/2022

Father's Day - Ten Minutes With A Rare Dad- Tony McIntosh - SMA Dad 06/15/2022

Motherhood Reflections - Exploring Our Journeys and Fostering Emotional Wellness for Ourselves and Our Families with NDF Emotional Wellness Director Carol Gelbard 05/04/2022

Motherhood Reflections - Exploring Our Journeys and Fostering Emotional Wellness for Ourselves and Our Families with NDF Emotional Wellness Director Carol Gelbard RARE MAMAS RISING- EPISODE 15 Motherhood Reflections: Exploring Our Journeys & Fostering Emotional Wellness For Ourselves & Our Families With NDF Emotional Wellness Director Carol Gelbard In honor of Mother’s Day, this special episode invites rare mamas to reflect on our motherhood journeys and explore our emotional wellness. Guest Carol Gelbard stewards these explorations and provides insightful techniques and strategies from her 20+ years of experience performing individual, family, and group therapy in hospitals, schools, and private practice settings. Carol is the Emotional Wellness Director at the Neuromuscular Disease Foundation (NDF). NDF works to enhance the quality of life for those living with the rare muscle disease GNE Myopathy. NDF funds critical research focused on treatments and a cure and provides advocacy, education, and outreach. Carol was a member of the NDF Foundation board for eight years. She has led patient and caregiver groups covering various topics, including grief and loss, adjusting and implementing self-care plans, adopting effective coping skills, and helping manage stressors with a chronic progressive disease. Carol has also facilitated podcasts on stress management, promoting and supporting wellness, problems with ableism in our culture, and breaking the taboo of disability. She received a bachelor of science degree in psychology at UC Davis and a master’s degree in social work at UCLA. In this episode, Carol slows us down, guides us through understanding our current state of well-being, helps us discover ways to create a care plan that suits our individual preferences, and offers strategies to allow our families to process emotions. What a Mother’s Day gift! EPISODE HIGHLIGHTS Grief triggers and how to cope with them in the moment Ways to manage stress responses and restore a sense of balance Finding and implementing personalized care practices to promote our well-being Making space for our family to process the highs and lows of living with a rare disease LINKS & RESOURCES MENTIONED Carol Gelbard Neuromuscular Disease Foundation CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/22986545

A North Star In A Rare Universe with Cure Founder and Rare Mom Caroline Cheung-Yiu 04/13/2022

A North Star In A Rare Universe with Cure Founder and Rare Mom Caroline Cheung-Yiu RARE MAMAS RISING- EPISODE 014 A North Star in a Rare Universe with CURE Founder and Rare Mom Caroline Cheung-Yiu For over 12 years, a cruel and debilitating disease slowly robbed Caroline’s son Alex of his abilities. Countless medical and genetic tests and some of the best physicians, scientists, and researchers in the world were perplexed by Alex’s condition. Then in 2018, through miraculous intervention, Alex’s genetic data was reanalyzed, and he was found to have a newly discovered, rare, non-inherited, spontaneous genetic disease called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) or IRF2BPL related disorder. During the time Caroline was relentlessly seeking answers for her son’s constantly shifting illness, she created a community called Complex, Undiagnosed, Rare, and Extraordinary (CURE). CURE connects families lacking a diagnosis for their child and empowers them with local resources to forge ahead in their diagnostic odyssey. Caroline believes we are all stars lighting up the sky in the rare universe, and once you meet Caroline, you’ll undoubtedly see why for those in the undiagnosed community, she’s a “North Star!” EPISODE HIGHLIGHTS The unlikely way Alex's diagnosis was ultimately discovered (you won’t believe it) How Caroline maintained hope as years passed without answers Caroline's best resources and insights for parents whose children are still on a diagnostic journey LINKS & RESOURCES MENTIONED Caroline Cheung-Yiu Undiagnosed Disease Network - NIH Rare Genomes Project - The Broad Institute Center for Rare Childhood Disorders - TGen Precision Medicine Clinic - Rady Children's Genomic Institute Manton Center for Orphan Disease Research - Boston Children's Hospital iHope Genetic Health - Illumina and Genetic Alliance CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/22740338

10 Minutes with A Rare Mama- Catherine Oh-Congenital Nephrotic Syndrome Mom 03/16/2022

The Passion Behind - Behind the Mystery TV Show with Co-Creator and Rare Mom Carri Levy and Writer- Producer Brittany Cocilova 02/16/2022

The Passion Behind - Behind the Mystery TV Show with Co-Creator and Rare Mom Carri Levy and Writer- Producer Brittany Cocilova RARE MAMAS RISING- EPISODE 012 The Passion Behind, Behind the Mystery with Co-Creator & Rare Mom Carri Levy & Writer/Producer Brittany Cocilova Carri Levy had been chasing a diagnosis for her daughter Ilana for years when she found The National Organization for Rare Disorders (NORD) and learned over 7,000 rare diseases exist. Carri’s colleague Molly Mager’s life was also impacted by a rare disease when her twin brother was diagnosed with Acinar Cell Cystadenoma, a rare pancreatic tumor. On a quest to find a diagnosis for Ilana and bring more awareness to rare diseases, Carri and Molly pitched an idea for a short series on rare and genetic diseases. What started as a six-part series has turned into a recurring segment airing on Lifetime TV’s morning show The Balancing Act. Brittany Cocilova joined the show as the writer/producer/director for the series. Her own personal health struggles have enabled her to relate to patients to help them tell their captivating and emotional stories. With over 100 segments to date, Behind the Mystery has been a lighthouse for rare patients and their families, helping them get a diagnosis or learn more about their disease, find specialists, tertiary centers, clinical trials, organizations, community, and more. In this episode of Rare Mamas Rising, Carri and Brittany share their inspiring personal stories, their dedication to making the show, and why they decided to dedicate the 2022 Behind the Mystery Rare Disease Day Special to rare moms. Take a listen and hear the passion behind, Behind the Mystery. EPISODE HIGHLIGHTS Carri’s story navigating an undiagnosed illness for her daughter Ilana until eventually receiving the diagnoses of primary immune deficiency disease, dysautonomia, and postural orthostatic tachycardia syndrome (POTS) Carri’s continual pursuit of a diagnosis for Ilana’s unanswered symptoms Ilana’s book Surviving and Thriving with an Invisible Chronic Illness Brittany’s health struggles including undergoing two kidney transplants The purpose Brittany’s found working on the show The meaningful reason for creating Behind the Mystery and goals for the show’s future The powerful connections that have been made for rare patients as a result of the show Collaborations with partners and organizations and their investment into improving the lives of rare patients Ways patients and caregivers can help spread rare awareness Advice and learnings for patients and parents navigating a rare disease diagnosis Highlights from The 2022 Rare Disease Day Special featuring Tracy Dixon Salazar, Caroline Cheung-Yiu, Nikki McIntosh, and The National Organization for Rare Disorders (NORD LINKS & RESOURCES MENTIONED Behind the Mystery    The Balancing Act Carri Levy https://www.linkedin.com/in/carrilevy/ Brittany Cocilova https://www.linkedin.com/in/brittany-cocilova-10503b66/ National Organization for Rare Disorders (NORD) Surviving & Thriving With An Invisible Chronic Illness CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/22140695

Shining A Light on Undiagnosed Illnesses with Chief Clinical Officer of the NeuroBehavioral Institute, Undiagnosed Filmmaker, and Rare Mom Dr. Katia Moritz 01/05/2022

Shining A Light on Undiagnosed Illnesses with Chief Clinical Officer of the NeuroBehavioral Institute, Undiagnosed Filmmaker, and Rare Mom Dr. Katia Moritz RARE MAMAS RISING- EPISODE 11 Shining a Light On Undiagnosed Illnesses with Chief Clinical Officer Neurobehavioral Institute, Filmmaker, and Rare Mom Dr. Katia Mortiz Dr. Katia Moritz, a licensed psychologist Board Certified in Cognitive and Behavioral Psychology. She is the co-founder and Chief Clinical Officer of the Neurobehavioral Institute, where she specializes in treating Severe Anxiety, Obsessive-Compulsive and Related Disorders, and Autism Spectrum Disorders. Dr. Moritz is also a rare mom, with two of her three children having Gaucher disease, a rare genetic disorder causing organ inflammation and dysfunction. Even more, Dr. Moritz is an undiagnosed patient herself. In 2010, she underwent a routine endoscopy and woke up with an unknown syndrome. After seeing doctors all over the country at various facilities, she is still undiagnosed. In her search for help, she has encountered a world of undiagnosed patients and families that are equally as desperate for answers. The glaring need for awareness of undiagnosed illnesses has inspired her to create a documentary film called Undiagnosed, based on the stories of the patients, their doctors, and the medical system that struggles to serve them. EPISODE HIGHLIGHTS Katia’s entry into the world of rare diseases with her two children who have Gaucher disease Her personal experience navigating a diagnostic odyssey with her undiagnosed illness The role mental health plays in navigating a rare or undiagnosed disease Advice for mothers who have experienced the impact of caregiving on their mental health and what they can do to take care of their mental and emotional well-being What Katia’s learned being the creator and co-director of Undiagnosed, a film about undiagnosed patients The meaningful work she’s doing to shine a light on undiagnosed illnesses and support the undiagnosed community Advice and learnings for other mothers navigating a rare disease or undiagnosed disease with their children LINKS & RESOURCES MENTIONED Dr. Katia Moritz Neurobehavioral Institute Undiagnosed Film CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/21549251

Holiday How-Tos for Rare Mamas 12/01/2021

Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan 11/03/2021

Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan RARE MAMAS RISING- EPISODE 009 Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan Chardell Buchanan is a Registered Dietitian Nutritionist who offers nutrition coaching to moms of children with disabilities. At the age of two and a half, Chardell's son, Ben, was diagnosed with a rare genetic disorder called Phelan-McDermid Syndrome. After Ben's diagnosis, her life was busy, and survival was the goal. Soon she realized not prioritizing her own health was affecting how she showed up for her entire family. She started using her professional skills as a dietitian nutritionist to plan and make healthy meals and snacks. As a parent of a disabled child, she understands firsthand that taking good care of yourself and eating healthy can feel overwhelming. She implements easy-to-use tools that make healthy eating effortless. In this episode, she's teaching us how to do the same. With ideas and strategies to make meals simple and nourishing, she's helping mamas like us discover healthy eating so we can take good care of our own health! EPISODE HIGHLIGHTS In this episode, Chardell & Nikki discuss: The path to Ben's Phelan-McDermid Syndrome diagnosis Chardell’s background as a Registered Dietitian Nutritionist Chardell’s personal experience being in survival mode juggling the demands of motherhood, having a child with a rare disease, and all of the other aspects of daily life How Chardell’s experience with her son led her to start helping other mothers of children with disabilities How rare moms can amplify nutrition by starting small and building on it until eating is the least overwhelming aspect of our day Sustainable tips and tools to make meals simple and nourishing Getting away from a diet culture that focuses on weight and gives short term results Eating healthy as a way to feel better and build strength which allows us to take care of our children and ourselves LINKS & RESOURCES MENTIONED Chardell Buchanan Phelan-McDermid Syndrome Foundation CONNECT WITH NIKKI /episode/index/show/rare-mamas-rising/id/21012926

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