Rare Mamas Rising: A Rare Disease Mom Podcast

RARE MAMAS RISING- EPISODE 16

Father's Day Episode: 10 Minutes With A Rare Dad- Tony McIntosh, SMA Dad

In honor of Father's Day, Tony McIntosh, father of Miles with spinal muscular atrophy, shares his journey and offers his best learnings over the past decade. Check out this episode to gain insight into the dad perspective, or share this episode with a rare dad in your life for a little Father's Day boost! Happy Father's Day to all the rad, rare dads!

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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

https://curegnem.org/about/leadership/our-team/carol-gelbard-lcsw/

Neuromuscular Disease Foundation

Curegnem.org

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https://raremamas.com/

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[email protected]

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

www.cureundx.com

www.alexsodyssey.com

Undiagnosed Disease Network - NIH

https://undiagnosed.hms.harvard.edu/about-us/

Rare Genomes Project - The Broad Institute

https://raregenomes.org/

Center for Rare Childhood Disorders - TGen

https://www.tgen.org/patients/center-for-rare-childhood-disorders/

Precision Medicine Clinic - Rady Children's Genomic Institute

https://radygenomics.org/families/

Manton Center for Orphan Disease Research - Boston Children's Hospital

https://www.childrenshospital.org/research/centers/manton-center-orphan-disease-research/information-patients-and-families

iHope Genetic Health - Illumina and Genetic Alliance

https://ihopegenetichealth.org/

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https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 013

10 Minutes with a Rare Mama

Catherine Oh - Congenital Nephrotic Syndrome Mom

Introducing "10 Minutes with a Rare Mama!"

"10 Minutes with a Rare Mama" is a bite-size serving of all the warm, nourishing goodness you love about Rare Mamas Rising—learning from each other, uplifting one another, and walking away feeling empowered. Each episode is filled with hearty ingredients to help you grow! But let's be honest, sometimes mama ain't got time for a full meal! So,"10 Minutes with a Rare Mama" is meant to give you an easily-digestible, snack-sized episode that can actually FIT into your day! In this episode, we hear from Catherine Oh, a veteran Rare Mama whose son Shawn is now a teenager living with an extremely rare variation of congenital nephrotic syndrome. Catherine highlights all the major life events that unfolded at the same time as Shawn's diagnosis, how she embraced life post-diagnosis, what she's learned about herself, where she finds hope, and her best piece of advice to other rare mamas. Check out this episode and grab a splash of inspiration, a little helping of hope, and a bite of bravery to get you through your day. This episode will fill you up in the best possible way!

LINKS & RESOURCES MENTIONED

Catherine Oh

www.catherineoh.com

[email protected]

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

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

TheBalancingAct.com/rare

https://www.instagram.com/behind_the_mystery

https://twitter.com/btmcaresforrare

https://www.linkedin.com/company/behind-the-mystery/

The Balancing Act

https://www.instagram.com/balancingacttv/

https://twitter.com/BalancingActTV

https://www.facebook.com/TheBalancingActFans

Carri Levy

https://www.linkedin.com/in/carrilevy/

Brittany Cocilova

https://www.linkedin.com/in/brittany-cocilova-10503b66/

National Organization for Rare Disorders (NORD)

https://www.rarediseases.org

Surviving & Thriving With An Invisible Chronic Illness

https://www.amazon.com/Surviving-Thriving-Invisible-Chronic-Illness/dp/1626255997/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1644247747&sr=8-1

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

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

https://www.instagram.com/drkatiamoritz/

https://www.linkedin.com/in/katiamoritz/

Neurobehavioral Institute

https://www.linkedin.com/company/nbiweston/

https://www.facebook.com/nbiweston

https://www.instagram.com/nbiweston/

Undiagnosed Film

https://undiagnosedfilm.com/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 10

The Holiday Episode: Holiday How-Tos for Rare Mamas with Host Nikki McIntosh

The holidays can be a magical time of year filled with celebrations, traditions, and meaning. But the "Most Wonderful Time of the Year" can also come with disrupted schedules, heightened expectations, and overstimulation. Add in the realities of rare-disease parenting, and it can leave us feeling overwhelmed and wiped out. Over time, I've learned to "holiday" a little differently so that I can truly feel the joy of the season. I put together this episode with some thoughts and ideas for my fellow rare mamas to help us keep the "merry" in this merry time of year!

EPISODE HIGHLIGHTS

• How to prioritize the parts of the holidays that you love
• Scheduling downtime into this busy time of year
• Managing our expectations and those of others
• Simplifying so that we can stay sane

• Practicing acceptance and granting grace

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

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

https://chardellbuchanannutrition.square.site/

https://www.instagram.com/stronger_for_ben/

https://www.facebook.com/ChardellBuchananNutrition

Phelan-McDermid Syndrome Foundation

https://pmsf.org/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

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Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 8

The Power of Storytelling in Community Building with Loving Large Author Patti M. Hall

Patti M. Hall is a writer, collaborator, book coach, and founder of the Story House Mastermind. She is also the author of Loving Large: a mother's rare disease memoir. Patti's life was pitched into an abyss of uncertainty when a golf ball-sized tumor was discovered in her teenage son's head, and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti's attention shifted fully to her son, away from her relationships as well as her own career and health. Patti's story is all of our stories. In fact, Patti wrote Loving Large for parents like us, whose children suffer from rare, chronic, or incurable diseases. In this episode, Patti gives a peek into her life, her book, and lessons learned along the way. Patti illuminates how sharing our stories has the power to build community and why a community is the very thing we need when navigating rare.

EPISODE HIGHLIGHTS

In this episode Patti & Nikki dig into:

• Receiving Aaron's diagnosis and the aftermath
• Patti's experience scrambling to find doctors, research, and resources all while time was ticking away
• How the notion of "advocates as experts" has evolved during Patti's time in rare and why forming partnerships with care providers is necessary
• Navigating ever-changing symptoms and circumstances and deciphering between big and small things on the rare ride
• The many roles Patti played while being a caregiver to her son including being a story keeper and a promise maker
• The story behind her book Loving Large and how she rewrote it entirely
• The bond she developed with her son while being "cellmates" together
• How we, as rare moms, have to relieve ourselves from the guilt of being away from our kids long enough to take a break and shut off the "monkey mind."
• The importance of sharing our lived experiences because community is how we survive and endure

LINKS & RESOURCES MENTIONED

Patti M. Hall

https://pattimhall.com/loving-large-book/

https://www.instagram.com/patti_m_hall/

https://www.facebook.com/pattimhallwriter

Global Genes

https://globalgenes.org/

Acromegaly Canada

https://acromegalycanada.ca/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 007

Changing Lives One Child at a Time with Team Joseph CEO & Duchenne Mom Marissa Penrod

When Marissa's five-year-old son Joseph was diagnosed with Duchenne muscular dystrophy, she made a silent promise that she would fight for him and channel her grief into something that would help him. Today, she is the CEO and founder of Team Joseph, an organization with a mission to fund research to find a cure for Duchenne muscular dystrophy and support families with immediate needs related to caring for a child with Duchenne. Marisa is also the host of the Making Our Way Podcast, a place for conversations about some of the toughest and best moments in life. In this episode, Marissa shares both her insights on starting a disease organization and her tips on how to best work with existing organizations.

EPISODE HIGHLIGHTS

Can you give us some background on your family and your son Joseph?

Joseph is now 18, and he's ready to go to college. When he was born, we didn't know anything was going on, and I had never heard the word Duchenne. Duchenne is degenerative and progressive. I took him to a pediatrician, and she sent me for blood work, and I had an appointment for a neurologist the next morning. Within the course of 24-hours, our lives were turned completely upside down.

Can you tell us more about Team Joseph and what led you to start the organization?

I started it in my heart the day that Joseph was diagnosed. The doctor said there's nothing you can do. A switch was flipped, I thought, nobody is going to advocate for my little boy like I will. I knew I wasn't going to take it sitting down. And I thought this journey is going to be about love. I wanted to fund research. We also found that people were struggling with resources and expenses and navigating a complex medical system and insurance system. So my friend, who also has a foundation, and I came up with the Family Assistance Program to help families with home modifications, fighting insurance, and getting on Medicaid waivers. Caring for a child should never be dependent on your resources. We change lives one child at a time.

What advice would you give other families who are considering starting their own organization?

Follow your heart but do it wisely and intentionally. Assess the landscape. Look for what you think you can contribute that's not already being done. The most powerful nonprofits are ones that can fill gaps. Look for gaps. Don't go duplicate what someone is already doing and doing well. Collaborate and make friends with other nonprofits. What do you feel passionate about? What gaps can you fill? What's not being done, and how can you collaborate? That's what makes you powerful in terms of the impact you can have.

What advice would you give to parents on how to best work with existing foundations? Be kind and give grace. So many foundations are started by parents, and everyone who starts a foundation has good intentions. Find out how you can be helpful. Ask the foundation what you can do to help. It builds teamwork, and it shares responsibility, but it also shares the joys and successes. Have an open mind and an open heart and figure out how to help the community in the biggest way.

LINKS & RESOURCES MENTIONED

Team Joseph

http://www.teamjoseph.org/

Duchenne Family Assistance Program

www.duchennefap.org

Making Our Way Podcast

https://open.spotify.com/show/2Qt0JngwTAn6buZyv9CNxy

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]