Rare Mamas Rising: Recent Episodes
Nikki McIntosh
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!
RARE MAMAS RISING- EPISODE 56
Learning to Mother Ourselves
In this Mother's Day episode of Rare Mamas Rising, Nikki explores what it means for rare moms to mother themselves with the same tenderness, attention, and care they so freely give their children. From noticing our needs before they become emergencies, to honoring our limits, speaking to ourselves with kindness, advocating for our own well-being, creating a soft place to land, and making room for joy and delight, this episode is a gentle reminder that rare mamas are worthy of good care too. Because we are not only the ones who comfort, protect, and hold everyone else—we are human beings with hearts that need holding, bodies that need rest, and spirits that need tending. Happy Mother's Day, rare mamas!
For more support and sisterhood, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below:
Amazon
Apple Books
Barnes & Noble
Bookshop.org
Books-A-Million
IndieBound
Indigo
Kobo
Porchlight
Book Info: www.raremamas.com/book
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 55
Plugging Into the Rare Community
In this special Rare Disease Day episode of Rare Mamas Rising, Nikki McIntosh reads the chapter "Plugging Into the Rare Community" from her book Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease and reflects on what Rare Disease Day has taught her as a rare disease mom. This heartfelt episode explores the power of the rare disease community, the importance of caregiver support, and why connection among rare moms can change the way we carry even the hardest seasons of rare disease parenting. Whether you are newly navigating a diagnosis or years into your caregiving journey, this episode offers encouragement, validation, and a reminder that no rare mama was meant to do this alone.
Links & Resources Mentioned:
For more info on Rare Disease Day, check out:
https://www.rarediseaseday.org
https://rarediseases.org
For more support and sisterhood, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below:
Amazon
Apple Books
Barnes & Noble
Bookshop.org
Books-A-Million
IndieBound
Indigo
Kobo
Porchlight
Book Info: www.raremamas.com/book
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 54
Hoping Through the Holidays
Christmas is the season of hope. But hope can be complicated for rare disease parents navigating exhaustion, medical uncertainty, chronic stress, and the ache of unanswered prayers. In this episode of Rare Mamas Rising, we explore what hope really looks like for rare disease parents and caregivers during a season that can feel both beautiful and painfully complicated. This episode gently unpacks the realities of hoping in the hard: hope in the waiting, hope after disappointment, hope when you're exhausted, and hope when you're scared to try again. It offers reflections on why hope is an action we choose, how it keeps us moving in the world of medical parenting, and the surprising ways hope can transform us even before our circumstances change. For every rare caregiver navigating uncertainty or heaviness this time of year, this conversation creates space to reconnect with hope.
Links & Resources Mentioned:
For more thoughts on Hope, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below:
- Amazon
- Apple Books
- Barnes & Noble
- Bookshop.org
- Books-A-Million
- IndieBound
- Indigo
- Kobo
- Porchlight
Book Info: www.raremamas.com/book
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 53
Rhythms of Rising and Recovering
As rare mamas, we're no strangers to effort. We plan, advocate, and persevere through every season. The calm seasons are fleeting, the storms arrive unannounced, and balance often feels impossible. So maybe it's time to stop waiting for life to slow down, and instead, learn to build recovery into the cracks and spaces of our real lives. In this episode, Nikki explores what it means to rest between the rising, to create a rhythm of recovery within the chaos, to stop pushing through every warning sign from our bodies, and to begin listening to what we truly need. Because maybe the goal was never perfect balance. Maybe it's learning to breathe in the middle of the unbalanced—to stop waiting for life to change, and instead, change how we move through it.
Links & Resources Mentioned:
Order the Rare Mamas book today at the links below:
- Amazon
- Apple Books
- Barnes & Noble
- Bookshop.org
- Books-A-Million
- IndieBound
- Indigo
- Kobo
- Porchlight
Book Info: www.raremamas.com/book
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 52
Rare Mamas Book Release + A Special Reading from the Introduction
Today is the day! Nikki’s new book, Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease, is officially here. In this very special episode, Nikki celebrates release day by sharing the heartfelt introduction, giving you a first look at the hope, strength, and sisterhood at the heart of Rare Mamas.
This book is a lifeline for rare moms, rare disease parents, and caregivers who are navigating the overwhelming and often isolating rare disease journey—whether you’re just receiving a diagnosis or years into the caregiving trenches. If you’ve ever felt unseen, overwhelmed, or unsure of the path ahead, Nikki’s hope is that this book and today’s episode provide you with the strategies, strength, support, and sisterhood to rise to the call of rare parenting.
Order the book today at the links below:
- Amazon
- Apple Books
- Barnes & Noble
- Bookshop.org
- Books-A-Million
- IndieBound
- Indigo
- Kobo
- Porchlight
Book Info: www.raremamas.com/book
Nikki’s taken her lived experiences and hard-won wisdom from over a decade and poured them into a compassionate and actionable guide to help mothers navigate the complexities of rare disease parenting while finding strength, hope, and community. Inside the book, you’ll learn how to:
- Adopt the right mindset for the journey ahead
- Advocate with confidence and diplomacy
- Navigate complex medical, educational, and financial systems
- Discover practical strategies for daily challenges
- Feel capable and empowered to make decisions
- Build a circle of support you can count on
- Balance caregiving with your own well-being
- Find strength in sisterhood and shared wisdom
- Hold onto hope while facing the unknown
- Rise to the call of rare parenting
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 51
The Making of Rare Mamas: Reflections on Writing and Rare Parenting
In this episode of Rare Mamas Rising, host Nikki takes listeners behind the pages of her upcoming book, Rare Mamas, to share how the writing journey mirrored the rare parenting journey in powerful and unexpected ways. Through honest storytelling, she unpacks the highs, the lows, and the lessons that connect directly to life as a rare mama.
She covers:
· The hardest and easiest chapters to write — from reliving the grief of “D-Day” to finding hope in Rising to the Call, the chapter that inspired the name of this podcast.
· The easiest and hardest parts of the process — how writing drew on Nikki’s creativity, career, and even her improv training, while publishing tested her patience and reminded her of the difficulties of rare parenting.
· Unexpected lessons in calling and community — the reminder that doing good doesn’t mean it’s easy, the importance of going back to your “why,” and the gift of community and sisterhood that makes the journey possible.
Nikki’s hope is that listeners hear their own stories reflected in these lessons, and that when you read this book, you feel that same sisterhood woven through every page, and the solidarity of a community that is rising together.
Links & Resources Mentioned:
Join the Book Interest List: www.raremamas.com/book
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 50
Introducing Rare Mamas: A Rare Disease Parenting Book by Nikki McIntosh
Nikki McIntosh—rare disease mom, advocate, caregiver, and founder of Rare Mamas—shares her biggest news yet: the upcoming release of her debut book, Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease, launching September 23rd.
This heartfelt and practical rare disease parenting book is written for mothers of children with rare diseases who are navigating the overwhelming world of rare diagnoses, caregiving responsibilities, and medical advocacy. Tune in to hear the emotional story behind the book, what’s inside, and how you can be part of this powerful movement of support, strength, and sisterhood for rare disease moms.
In this episode, Nikki shares: * Why she wrote Rare Mamas, a first-of-its-kind resource for moms raising children with rare diseases * What’s inside the book (28 chapters packed with caregiver tools, advocacy strategies, emotional support, and stories from lived experience) * How she kept writing through surgeries, hospital stays, exhaustion, and uncertainty * What this guide offers for parents of medically complex children—including guidance on healthcare, education, systems, and self-care * How to join the Rare Mamas Book Interest List and help share this support resource with the broader rare disease community
Links & Resources Mentioned:
- Join the Book Interest List: www.raremamas.com/book
- Follow on Instagram: @rare_mamas
- Become a Rare Mamas Ambassador – DM @rare_mamas or email nikki@raremamas.com to get involved
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 49
Holding On To Our Identity
with Rare Mama Nikki McIntosh
In this empowering Mother’s Day episode of Rare Mamas Rising, host Nikki invites listeners into a raw, tender conversation about what it means to hold on to your identity while parenting a child with a rare disease. From personal reflections to stories from fellow rare moms, this episode explores the invisible shifts in identity and small but powerful ways to reconnect with who you are. Because this Mother’s Day, we’re celebrating the whole you— not just the caregiver, but the creative, the dreamer, the friend, the person. This episode is a tribute to the woman behind the diagnosis — a celebration of who you are, who you were, and who you’re becoming.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 48
Spring Cleaning: Letting Go of Things That No Longer Serve Us
with Rare Mama Nikki McIntosh
In this uplifting episode of Rare Mamas Rising, Nikki invites you to embrace spring’s renewal by letting go of what no longer serves you—draining digital habits, old stress loops, unhelpful routines, and even relationships or thoughts that weigh you down. With personal insights and actionable steps, she guides Rare Mamas through clearing the clutter—mental, emotional, and physical—to make space for peace and strength. Tune in to discover how shedding these burdens can lighten your load and lift you up, because as spring blooms, so can we.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 47
Tackling Therapy Burnout
with Rare Mama Nikki McIntosh
In this episode, Nikki dives into the all-too-real challenge of therapy burnout—when the endless cycle of PT, OT, and more leaves both Rare Mamas and their kids feeling overwhelmed. Explore how to spot the signs of burnout, practical ways to lighten the load with help from therapists, and when to hit pause for a much-needed reset. It's all about staying attuned to our kids’ and our own emotional well-being, empowering us to find strength even in the toughest moments.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 46
Sharing Our Stories to Create Change
In this special Rare Disease Day episode of Rare Mamas Rising, host Nikki McIntosh explores the power of storytelling in the rare disease community. She shares why speaking up—whether through advocacy, education, or personal connection—can drive awareness, inspire action, and create lasting change. From helping newly diagnosed families feel less alone to influencing policies that improve care, our voices matter more than ever. Tune in to be encouraged, empowered, and reminded that together, we can make a difference.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 45
Building Endurance for the New Year
In this episode of Rare Mamas Rising, we’re diving into strategies behind building endurance for the year ahead. From balancing effort with recovery and planning for moments of rejuvenation, this episode is packed with practical tips to help you avoid burnout and sustain your energy. We explore how to align your actions with your capacity, the importance of creating a rhythm of effort and restoration, and why saying no is essential. As you consider your goals and plans for the new year, this episode is your guide to building endurance to see them through and creating lasting strength all year long. Tune in to refuel and rise!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 44
Holidaying Your Way
with Rare Mama Nikki McIntosh
The holiday season can feel overwhelming for families raising children with rare diseases, but it doesn’t have to be. In this episode, we explore how to create meaningful traditions and plans that work for your unique family. From letting go of guilt and unrealistic expectations to finding simple, joyful ways to connect, this episode is packed with practical tips and ideas for savoring the season. Discover how to balance your family’s needs with holiday festivities, prioritize what truly matters, and embrace the beauty of “Holidaying Your Way.” Tune in for inspiration and encouragement to help your family flourish during this busy time of year.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 43
Growing Our Gratitude with Rare Mama Nikki McIntosh
This Thanksgiving, join us to explore the powerful impact gratitude can have on our rare journeys. We’ll dive into how simple acts of thanks can elevate our spirits, strengthen our health, and deepen our relationships with the incredible providers who support us every day. We’ll uncover the science behind gratitude’s high-vibrational energy and share practical ways to honor the people who make a difference in our lives. Tune in to celebrate the strength of our community and discover how we can grow our gratitude!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 42
In this special Halloween episode of Rare Mamas Rising, we explore how to make Halloween fun, inclusive, and accessible for children with rare diseases. Nikki shares personal stories and practical tips, including creative trick-or-treating alternatives, sensory-friendly activities, and adaptive costume ideas. Whether your child uses a wheelchair, has sensory sensitivities, or faces other challenges, this episode offers ideas to help you celebrate the spooky season in a way that works for your family. Join us for insights, new traditions, and a little Halloween magic!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
PODCAST INFO
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 41
Loving with Every Breath with Breath Taking Author Jessica Fein
Jessica Fein is the author of Breath Taking: A Memoir of Family, Dreams, and Broken Genes and host of the "I Don't Know How You Do It” podcast, which features people whose lives seem unimaginable and who triumph over seemingly impossible challenges. Her writing has appeared in Newsweek, Psychology Today, The Boston Globe, HuffPost, Scary Mommy, Zibby Mag, Kveller, and more. Jessica is a relentless warrior in memory of her dynamic daughter, whom she lost to the rare disease MERRF Syndrome in 2022. Her work encompasses hope and humor, grit and grace–the tools that make up her personal survival kit. Jessica serves on the Board of Directors of MitoAction. She’s the mother of three, whom she and her husband adopted from Guatemala. In this episode, Jessica shares her powerful journey with raw honesty, wisdom, and heart. Join us as we explore the intertwined emotions of joy and sorrow, love and loss, and uncover why Jessica’s new book is truly a love story and a moving testament to the enduring power of love.
EPISODE HIGHLIGHTS
- Background about Jessica and her family
- How, as a problem-solver by nature, Jessica dealt with an unsolvable situation
- The difference between living in fear and living with fear
- Nurturing the conflicting emotions of sorrow and joy
- Staying present while experiencing painful circumstances
- The journey to writing Breath Taking
- Why Breath Taking is described as a love story
- Jessica’s hopes for her book
- Jessica’s learnings and advice for other rare mamas
LINKS & RESOURCES MENTIONED
Jessica Fein
jessicafeinstories.comhttps://www.instagram.com/feinjessica/
https://www.facebook.com/jessica.fein.92/
https://www.linkedin.com/in/jessica-fein-b643b09/
https://podcasts.apple.com/us/podcast/i-dont-know-how-you-do-it/id1668168226
Breath Taking
jessicafeinstories.com
https://www.goodreads.com/author/show/826590.Jessica_Fein
Mito Action
https://www.mitoaction.org
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
PODCAST INQUIRIES
podcast@raremamas.com
RARE MAMAS RISING- EPISODE 40
Preparing for a Planned Hospital Stay with Rare Mama Nikki McIntosh
In this episode of Rare Mamas Rising, host Nikki dives into the vital preparations for managing your child’s upcoming surgery or medical procedure. Nikki, sharing from her own experience with her son Miles, offers a comprehensive guide to help you navigate the emotional and logistical challenges of hospital stays. From educating yourself and organizing support to practical tips for during and after the hospital visit, this episode is packed with actionable advice to ease your anxiety and ensure both you and your child are as prepared as possible. Tune in for heartfelt support and practical strategies to make this challenging time a bit smoother.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 39
Blazing Trails to Cure and Care with The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease Founder Kristen Gray
Kristen Gray is an extraordinary mom of four incredible children: Charlotte, Gwenyth, Callan, and Gavin. From the moment her eldest two, Charlotte and Gwenyth, were diagnosed with Batten Disease, she embarked on a courageous journey blazing trails in rare disease advocacy. She founded The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease and established The Gray Academy, a beacon of hope and education for children facing complex neurological disorders. Her unwavering dedication and pioneering spirit have been a driving force behind groundbreaking initiatives to find treatments and support families in similar situations. Join us as we delve into her inspiring story of resilience, hope, and relentless determination to change the future for her children and others.
EPISODE HIGHLIGHTS
- The discovery of Charlotte and Gwenyth’s Batten Disease diagnoses
- Founding The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease
- Development of The Gray Academy and their approach to education
- Balancing advocacy and motherhood
- Kristen’s vision for the future of children and families affected by neurological disorders
- Kristen’s best learnings for other rare mamas
LINKS
The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease
Website: www.curebatten.org
Instagram: @curebatten Facebook: @curebatten
The Gray Academy
Website: www.thegrayacademy.org
Instagram: @thegrayacademy
Facebook: @thegrayacademy
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
RARE MAMAS RISING- EPISODE 38
Mother’s Day Episode: On Bonding & Being There
with Rare Mama Nikki McIntosh
Join host Nikki on a heartfelt journey of motherhood in a special Mother's Day episode. From grand visions of bonding through shared interests to the reality of simply being present through life's challenges, Nikki shares personal anecdotes and insights that illuminate the essence of maternal love and resilience. Reflecting on her own experiences with her sons and the impact of rare diseases on their journey, Nikki celebrates the power of unwavering support and trust in nurturing deep connections with our children. Tune in to this touching tribute to the enduring bond between mothers and children, where simplicity reigns supreme and the beauty of being there shines brightest, especially on Mother’s Day.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 38
Mother’s Day Episode: On Bonding & Being There
with Rare Mama Nikki McIntosh
Join host Nikki on a heartfelt journey of motherhood in a special Mother's Day episode. From grand visions of bonding through shared interests to the reality of simply being present through life's challenges, Nikki shares personal anecdotes and insights that illuminate the essence of maternal love and resilience. Reflecting on her own experiences with her sons and the impact of rare diseases on their journey, Nikki celebrates the power of unwavering support and trust in nurturing deep connections with our children. Tune in to this touching tribute to the enduring bond between mothers and children, where simplicity reigns supreme and the beauty of being there shines brightest, especially on Mother’s Day.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
Shelly Meitzler is the Director of Community Support & Outreach at TSC Alliance, an internationally recognized nonprofit dedicated to Tuberous Sclerosis Complex (TSC), a rare genetic disorder causing tumors in various organs. With a personal journey spanning over two decades, Shelly's dedication stems from her own family's experience with TSC. As a parent of two children with TSC, Ashlin, and Mason, as well as daughter Mikenna, Shelly draws from her firsthand experience to offer invaluable insight and assistance to families navigating similar paths. Having volunteered in the TSC community for 14 years before joining the Alliance in 2017, she's committed to empowering families with resources and support to advocate for themselves and their children. Her unwavering drive and passion make her a powerful advocate in the TSC community. In this episode, hear from this passionate advocate who offers sage wisdom for all parents navigating the rare disease road.
EPISODE HIGHLIGHTS
- Background about Shelly and her family
- All about Tuberous Sclerosis Complex
- Navigating the very different paths of two children with TSC
- How Shelly became involved with TSC Alliance and her role today
- Advice for parents interested in getting involved with a patient advocacy group or non-profit organization
- The importance of community building and involvement in rare disease advocacy
- Shelly’s learnings and advice for other rare parents
LINKS
TSC Alliance
https://www.tscalliance.org/
https://www.facebook.com/tscalliance
https://twitter.com/tscalliance
https://www.instagram.com/tscalliance/
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
RARE MAMAS RISING- EPISODE 36
Transforming Love Into Advocacy
with Rare Mama Nikki McIntosh
In honor of Rare Disease Day, we explore how a mother’s love transforms into impactful advocacy, empowering us to conquer challenges and ignite change. In this episode, discover the passionate spirit that fuels our fight and learn practical tips for channeling love into action. Don’t miss this episode as you gear up for advocating on Rare Disease Day and throughout the year!
LINKS & RESOURCES MENTIONED
National Organization for Rare Disorders (NORD)
EveryLife Foundation
Global Genes
Rare Disease Legislative Advocates (RDLA)
Rare Action Network
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 35
Charting the Unknown: Navigating the New Year Amid Uncertainty
with Rare Mama Nikki McIntosh
The beginning of a new year provides a prime opportunity to establish goals, set intentions, and chart a course for the months ahead. However, the unpredictability of rare diseases can derail even the most thought-out plans. Navigating this delicate balance between planning and flexibility is a challenge. Join Nikki in this episode as she delves into strategies for navigating the uncharted territories of the new year. Through proactive approaches, practical tips, and personal stories, Nikki equips rare mamas to embrace uncertainties, allowing them to step into the new year with flexibility and openness.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 34
Navigating Grief and Healing with Normal Broken Author Kelly Cervantes
Kelly Cervantes is the author of Normal Broken: The Grief Companion for When it's Time to Heal But You're Not Sure You Want To. Kelly is an award-winning writer, speaker, and advocate best known for her blog Inchstones, where she shared the stress, love, and joy that came with parenting her medically complex daughter, Adelaide. Since Adelaide's passing, Kelly has continued to write candidly about her arduous and, at times, contradictory grief journey. She has been published in the Chicago Tribune, the Chicago Sun-Times, and Cosmopolitan, as well as quoted in the New York Times, CNN, and People. She is the current board chair for the nonprofit CURE Epilepsy and also hosts their biweekly podcast, Seizing Life, where she interviews scientists, doctors, and individuals affected by epilepsy. Kelly resides in Maplewood, NJ, with her husband, Miguel Cervantes currently starring in Hamilton on Broadway, their children, and their dogs. In this episode, Kelly holds our hands and compassionately guides us through grief and healing, allowing us to feel normal broken together.
EPISODE HIGHLIGHTS
- Background about Kelly and her family
- The journey to writing Normal Broken, and the impact of writing through pain
- Navigating anticipatory grief while parenting a medically complex child
- Managing comparative and competitive grief
- What to do when you're struggling to feel gratitude
- Communicating your needs to your partner and understanding your partner's needs when they are different than your own
- Taking steps to find and build a community
- Kelly's learnings and advice for other rare mamas
LINKS
Normal Broken
NormalBroken.com
Kelly Cervantes
Kellycervantes.com
Facebook.com/kellygc411
Instagram.com/kellygc411
Cure Epilepsy
https://www.cureepilepsy.org/
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
RARE MAMAS RISING- EPISODE 33
A Rare Adoption Story with Rare Mama Monica Poynter
In honor of November National Adoption Awareness Month, guest Monica Poynter shares her incredible rare adoption story. Monica is a proud mother to her sons Tag and Trey and daughter Ophelia. Tag and Trey live with a rare bleeding disorder called hemophilia A, in which the blood does not clot properly. With no family history of the condition, their biological son Tag's diagnosis in 2014 came as a complete shock. Fast-forward to 2020, Monica and her husband Josh grew their family by adopting Trey from an orphanage in China after being inspired by a magazine story about another family who had done the same. The brothers became instantly inseparable, bonded by adoption and their shared condition. Now, the family has another exciting addition with the birth of their daughter, Ophelia. In this episode, Monica shares her family's story of adoption, her journey caring for children living with the same rare condition, and words of inspiration for fellow rare mamas!
EPISODE HIGHLIGHTS
- Tag's Hemophilia A diagnosis
- How Monica and Josh rose to the challenge of rare parenting
- The road to Trey's adoption
- Caring for two children with rare diseases
- Tag and Trey's bond
- Advice for families interested in adoption
- The addition of daughter Ophelia and life today
- Monica's best learnings for other rare mamas
LINKS
Kentucky Hemophilia Foundation
https://www.kyhemo.org/index.php
Hemophilia Federation of America
https://www.hemophiliafed.org/
Hemlibra®
https://www.hemlibra.com/
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
Teri is a hard-working, rare mama fiercely fighting for her son Beau, who has a rare condition called Larsen Syndrome. When Beau was born, all of his major joints were dislocated, and his spine had a curvature. Beau’s had eight major surgeries over the last ten years, and Teri and her husband Dan have been advocating for him every step of the way. In this episode, Teri shares how she never stops showing up for Beau, how she’s learned to accept a life of uncertainty, and how she loves watching how bright Beau shines!
EPISODE HIGHLIGHTS
- All About Larsen Syndrome
- The ways Teri rises to meet the challenges of being a rare mama
- Teri’s favorite quote that inspires her to keep going
- Where Teri finds hope
- Teri’s best advice for other rare mamas
LINKS & RESOURCES MENTIONED
Teri Furey
https://www.instagram.com/terifurey/
Larsen Syndrome
https://rarediseases.org/rare-diseases/larsen-syndrome/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 031
Demystifying Differences with Author, Speaker, & Rare Mama Megan DeJarnett
Megan is an author, speaker, disability DEI educator, inclusion advocate, and mom to two boys. She was diagnosed with SMA at age two, but Megan didn't think much about her differences until she became the mother of a child with special needs. When Megan found herself having to answer questions about his differences, it sparked a passion in her to teach children the ways in which everyone is unique. Today, Megan is the organizational founder of No Such Thing, a company with a mission to help others redefine purpose by removing defining labels. She's the author of the children's books No Such Thing as Normal and Lovely as Can Be. In this episode, Megan shows us how she’s demystifying differences and spreading her life’s mission of living without limits!
EPISODE HIGHLIGHTS
- Megan's experience growing up with a rare disease
- How Megan's using her experience while parenting her sons
- What drove Megan to write a book and start a company
- The mission and goals of Megan’s company No Such Thing As Normal
- How we as parents can promote diversity, equity, and inclusion
- Megan's best advice for other rare mamas
LINKS & RESOURCES MENTIONED
Websites
nosuchthing.co
megandejarnett.co
@nosuchthing.co
@megandejarnett
CONNECT WITH NIKKI
Website
https://raremamas.com/
https://www.instagram.com/Rare_Mamas/
info@raremamas.com
RARE MAMAS RISING- EPISODE 30
Back-to-School Tips with Rare Mama Nikki McIntosh
Back-to-school is a busy time for any household, and for families of children with rare diseases, back-to-school may come with even more preparations and to-dos. We are doing all the typical things like getting school supplies and clothing ready to go, but we’re also communicating with care carriers and ensuring services and supports are in place. Over the years, Nikki’s figured out a few systems to help rare families prepare for a new school year. These tips are tried and true from one rare mama to another. Check out this episode, and get some practical advice and a little encouragement as you get ready for back to school!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 29
Mid-Year Reset with Rare Mama Nikki McIntosh
Join Nikki for a little mid-year check-in. In this episode, Nikki guides you through a step-by-step process to help you reflect on your “why,” review the last six months, and reset your path for the remainder of the year. This episode hopes to serve as a thought starter, a jumping-off point, and a catalyst to help you reflect on where you’ve been and recommit to where you’re going!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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: http://www.stiffperson.org/
Twitter: https://twitter.com/TheSPSRF
Instagram: https://www.instagram.com/stiff_person_syndrome/
Facebook: https://www.facebook.com/TheSPSRF
LinkedIn: https://www.linkedin.com/company/the-stiff-person-syndrome-research-foundation/
Chan Zuckerberg Rare As One Initiative
https://chanzuckerberg.com/science/programs-resources/rare-as-one/
Celine Dion Announces Stiff Person Syndrome Diagnosis
https://www.ctvnews.ca
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 27
Mother’s Day Episode - Enduring, Planting, and Blooming with Rare Mama Nikki McIntosh
In honor of Mother’s Day, pull up a chair and grab a cup of tea (or vodka) and join Nikki for a little heart-to-heart. She’s talking about motherhood and sharing a message that’s been on her heart. Sometimes in rare motherhood, there are seasons that feel like long winters. Nikki offers a few thoughts on how to approach these seasons as we await spring. Don’t miss this episode–it’s short and sweet but packed with an encouraging and meaningful message. Like a bouquet of freshly picked Mother’s Day flowers sent out to every single rare mama. Happy Mother’s Day from one rare mama to another!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.seattlechildrens.org/research/centers-programs/integrative-brain-research/our-labs/aldinger-lab/
Twitter: https://twitter.com/kaaldinger
MAST Genes Research Foundation
Website: https://mastgenes.org/
Facebook: https://www.facebook.com/groups/780432716601479
Twitter: https://twitter.com/mastgenes
Seattle Children’s Research Institute
https://www.seattlechildrens.org/research/
The University of Washington
https://www.peds.uw.edu/specialties/genetic-medicine
American Epilepsy Society
https://aesnet.org/
Global Genes
https://globalgenes.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 25
Rare Mamas Rising Reflections with Rare Mamas® Creator, Podcast Host & Rare Mama Nikki McIntosh
To mark the 25th episode of the Rare Mamas Rising podcast, Nikki takes over the mic, purposefully pausing to reflect on the compelling conversations in the previous episodes. From a rare memoir author to rare disease TV show creators and writers, a rare podcaster, rare disease organization founders and directors, a nurse, a nutrition coach, a wellness expert, a social worker, psychologists, countless advocates, a few rare dads, and lots of rare mamas, the Rare Mamas Rising podcast guests have shared their stories openly, lending their expertise and learnings for us all. Though these guests have different backgrounds and their children have different rare diagnoses, this special episode highlights key characteristics they share and the importance they hold for us all. Check out this episode that investigates meaningful takeaways we can all use on our rare walk!
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.thedisordercollection.com/danieldefabiospeaker
Menkes Syndrome
https://themenkesfoundation.org/research
DISORDER
https://www.thedisorderchannel.com
https://www.linkedin.com/company/disorder-the-rare-disease-film-festival
https://www.instagram.com/disorderrarediseasefilms/
https://www.facebook.com/rarediseasefilmfestival
Global Genes
https://globalgenes.org/
Courageous Parents Network
https://courageousparentsnetwork.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 23
Modeling Rare Advocacy with Thalassemia Advocate & Rare Mama Maria Hadjidemetriou
Maria was born with a rare genetic blood disease called Thalassemia, also known as Cooley’s Anemia. Since the age of two, Maria has received two pints of blood every fourteen days. Today, Maria is a mother, a real estate professional, and a fierce Thalassemia advocate speaking around the world and inspiring patients to live their best lives. Maria is a published author in the American Journal of Hematology and currently serves as an Executive Board Member for Cooley’s Anemia Foundation and as an Expert Patient Advisor for The Thalassemia International Federation. Most recently, Maria partnered with the global iconic beauty brand Maybelline as a model in the “We Speak” campaign for Disability Month. Maria is a model advocate, and in this episode, she speaks with strength, passion, and faith. She gives valuable insights about growing up with a rare disorder, learning to champion your disease, and living life without limitations or boundaries. She passionately shares ideas on how we can encourage our rare children to do the same!
EPISODE HIGHLIGHTS
- Maria’s childhood and growing up with a rare disease
- The wisdom Maria’s mother passed along to her at a young age
- How Maria learned to love her disease
- Maria’s goal of turning Thalassemia into a household name
- Maria’s advocacy work and fighting for access and equality
- Maria’s strong faith and God’s hand in her life
- Maria’s best advice for other rare mamas
LINKS & RESOURCES MENTIONED
Maria Hadjidemetriou
https://www.instagram.com/downtownmomnyc/
Cooley’s Anemia Foundation
https://www.thalassemia.org/
Thalassemia International Federation
https://thalassaemia.org.cy/
American Journal of Hematology
https://onlinelibrary.wiley.com/
The Disorder Channel
https://www.thedisordercollection.com/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 22
Finding Meaning & Purpose with STXBP1 Foundation Director of Development & Rare Mama Melissa Hioco
After discovering her son Alex had STXBP1, a rare neuro-developmental disorder, and finding there was little information known about the disorder, Melissa Hioco found an online STXBP1 parent community and got involved. Today, she is a founding member and the Director of Development for the STXBP1 Foundation, a parent-led nonprofit leading the charge for a cure for STXBP1 disorders. Within this new world, through the pain and struggle, she has realized her purpose and has evolved into an unrelenting advocate for the STXBP1 community, supporting her fellow rare disease mamas and often turning to her faith for strength and inspiration. In this episode, Melissa exudes courage and grace as she discusses shifting perspectives, embracing this life, making the most of it, and finding meaning and purpose along the way.
EPISODE HIGHLIGHTS
- Alex’s diagnosis and their family’s entry into the world of rare disease
- How Melissa forged forward after Alex’s diagnosis
- The ways Melissa rises to the challenge of being a rare mama
- The work Melissa does as the Director of Development for The STXBP1 Foundation
- Finding her purpose working with the STXBP1 Foundation
- Teaching others that every life is valuable
- Finding the gifts in rare life
- Melissa’s best advice for other rare mamas
LINKS & RESOURCES MENTIONED
STXBP1
Website: https://www.stxbp1disorders.org/
Instagram: https://www.instagram.com/stxbp1_foundation/
Facebook: https://www.facebook.com/stxdisorders
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 020
10 Minutes With A Rare Mama- Amanda Brundage, UFC Fighter & ALG13 Mom
Amanda is a former UFC fighter, a current self-defense instructor, and mother to Kingsley, who has a rare condition called ALG13 that has only thirty-seven known cases worldwide. A true fighter in every sense of the word, Amanda shares how she uses her background and training to help her daughter in a fight she never expected. Amanda’s learned to trust the process, and through it, she’s found a new calling. This episode packs a punch!
EPISODE HIGHLIGHTS
- The ways Amanda rises to meet the challenge of being a rare mama
- The surprising new career Amanda discovered through her journey
- How Amanda’s using her influence and voice to spread ALG13 awareness
- Amanda’s best advice for other rare mamas
- What Amanda loves about Kingsley
LINKS & RESOURCES MENTIONED
Amanda Brundage
@ABCNation115
Cody Brundage
@Cody_Brundage
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 019
A Big Reason to Be Here with FOXG1 Research Foundation Co-Founder, Executive Director, and Rare Mama- Nicole Johnson
Nicole Johnson is the co-founder of the FOXG1 Research Foundation and mother to Josie, who has a severe mutation of the FOXG1 gene. The FOXG1 Research Foundation is not only accelerating research to cure FOXG1 Syndrome and brain disorders but also driving change in the rare disease landscape. Bringing more than two decades of experience in media and communications, Nicole currently serves as FOXG1 Research Foundation’s Executive Director overseeing every vertical across the organization. In this episode, Nicole’s strength of purpose blazes bright, and she speaks with firsthand knowledge about the powerful combination of science and hope. She’s a 2022 Global Genes Champion of Hope Award nominee, and she believes we are all here for a really big reason. After listening to this hope-inducing conversation, you’re sure to understand why!
EPISODE HIGHLIGHTS
- The journey to a FOXG1 diagnosis for Nicole’s daughter Josie
- How Nicole co-founded the FOXG1 Research Foundation and the work she’s doing as the Executive Director
- The progress the FOXG1 Research Foundation has made, and its impact on the way natural history studies are conducted
- Why we are living in a “science renaissance”
- Nicole’s concept of “Happiness Hacks” to keep from living inside the gloom
LINKS & RESOURCES MENTIONED
FOXG1 Research Foundation
www.foxg1research.org
Nicole Johnson
Meet Nicole & Josie: https://youtu.be/NRT7lVuBTJ4
LinkedIn: https://www.linkedin.com/in/nicole-johnson-foxg1/
Email: nicole@foxg1research.org
Global Genes
https://globalgenes.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 019
A Big Reason to Be Here with FOXG1 Research Foundation Co-Founder, Executive Director, and Rare Mama- Nicole Johnson
Nicole Johnson is the co-founder of the FOXG1 Research Foundation and mother to Josie, who has a severe mutation of the FOXG1 gene. The FOXG1 Research Foundation is not only accelerating research to cure FOXG1 Syndrome and brain disorders but also driving change in the rare disease landscape. Bringing more than two decades of experience in media and communications, Nicole currently serves as FOXG1 Research Foundation’s Executive Director overseeing every vertical across the organization. In this episode, Nicole’s strength of purpose blazes bright, and she speaks with firsthand knowledge about the powerful combination of science and hope. She’s a 2022 Global Genes Champion of Hope Award nominee, and she believes we are all here for a really big reason. After listening to this hope-inducing conversation, you’re sure to understand why!
EPISODE HIGHLIGHTS
- The journey to a FOXG1 diagnosis for Nicole’s daughter Josie
- How Nicole co-founded the FOXG1 Research Foundation and the work she’s doing as the Executive Director
- The progress the FOXG1 Research Foundation has made, and its impact on the way natural history studies are conducted
- Why we are living in a “science renaissance”
- Nicole’s concept of “Happiness Hacks” to keep from living inside the gloom
LINKS & RESOURCES MENTIONED
FOXG1 Research Foundation
www.foxg1research.org
Nicole Johnson
Meet Nicole & Josie: https://youtu.be/NRT7lVuBTJ4
LinkedIn: https://www.linkedin.com/in/nicole-johnson-foxg1/
Email: nicole@foxg1research.org
Global Genes
https://globalgenes.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 018
Elevating Our Advocacy with Rare Action Network State Ambassador, Cure SMA Social Work Manager, & Rare Mama Danyelle Sun
August is spinal muscular atrophy awareness (SMA) month, and in honor, my guest is SMA mom Danyelle Sun. Danyelle has served Cure SMA as a board member and Wisconsin chapter officer, building community and championing a better future for people living with SMA. Currently, she works as the Cure SMA Social Work Manager, providing support to families, educating elected officials about SMA, and advocating for newborn screening. Not only is Danyelle a passionate advocate for the SMA community, but she’s also a dedicated advocate for the entire rare disease community. She serves as the Wisconsin Rare Action Network® Volunteer State Ambassador and has successfully built a strong network of over 280 advocates throughout Wisconsin. She works tirelessly with state legislators and their staff on numerous policy initiatives affecting the rare disease community. Danyelle is making such an impact on the rare disease community that in 2021 she received the NORD Rare impact award. Danyelle is a dedicated awareness-builder, a hard-working advocate, and a true changemaker. In this episode, Danyelle uses her ten years of experience to help us grow as advocates and elevate our advocacy.
EPISODE HIGHLIGHTS
- The journey to an SMA diagnosis for Danyelle’s two children, Ruby and Landon
- Tips on how to become stronger awareness builders
- Resources and action ideas on how to engage in state advocacy
- How to effectively utilize a social worker’s support and resources
- Expecting and awaiting goodness
LINKS & RESOURCES MENTIONED
https://www.curesma.org/
https://rareaction.org/
https://everylifefoundation.org/
https://globalgenes.org/
https://rarediseases.org/
https://www.rarediseaseday.org/
https://familyvoices.org/
https://www.ndrn.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 017
Turning Pain Into Purpose with President of The Avalon Foundation, Hypophosphatasia Advocate, Life Coach & Rare Mama Deb Ayres
Deb Ayres, rare mama to Avalon, is a certified life coach and wellness practitioner with a degree in psychology. When Avalon was getting a crucial yet incredibly painful treatment for the rare condition Hypophosphatasia, Avalon’s grandmother gave her a pain box to support her through treatment. Avalon strongly felt that supporting children who are enduring painful treatment was vital, and the idea for The Avalon Foundation was born. Deb and Avalon built The Avalon Foundation to promote youth leadership through offering support to kids receiving life-altering treatment for rare diseases. In this episode, Deb offers not-to-be-missed ideas and insights from both her professional and personal experiences. She’s a sage shepherd guiding and leading with both wisdom and heart!
EPISODE HIGHLIGHTS
- The journey to Avalon’s rare diagnosis
- Advocating for school inclusion and pivoting to find alternative avenues
- Avalon’s resilience and rise to advocate for herself
- How The Avalon Foundation got started
- The new mindset Deb adopted and how she became empowered
- Savvy tips for navigating rare life from a certified life coach
- Deb’s best advice for other rare mamas (it’s one of my favorites!)
LINKS & RESOURCES MENTIONED
Deb Ayres
DebAyres@KidsCaringForKids.org
The Avalon Foundation
https://kidscaringforkids.org/
https://www.facebook.com/theavalonfoundation
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
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/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
catherine@catherineoh.com
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
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/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING- EPISODE 006
Raising Awareness with Cure SMA Advisory Committee Member & SMA Mom Advocate Mary McHale
In this special spinal muscular atrophy (SMA) awareness episode, SMA mom Mary McHale shares learnings from her 20+ years of being a rare disease parent, awareness builder, fundraiser, and advocate. Mary's son Danny was diagnosed with SMA at six months old, and Mary was told that he wouldn't see his first birthday. Today, Danny is a junior in college. Mary has become a fierce SMA advocate, having sat on the Cure SMA Board of Directors for twelve years and now serving on the Adults with SMA advisory committee. She's also an event leader who has raised over $2 million towards SMA research. In this episode, Mary gives insights into the significance of advocacy and awareness-building efforts, how parents can plug into disease organizations, and the importance of finding hope.
**EPISODE HIGHLIGHTS**
Can you give us some background on your family and your son Danny?
A neurologist looked at our happy gurgling baby and said, "sit down; he has a condition, it's terminal, and there is no hope." The doctor did give us some information about Cure SMA. We called them that day, and they said, "No, there is hope," and that was the turning point for us on this journey. I've learned you need to ask questions, challenge, and advocate. Learn the law, learn your child's rights, the systems, and the processes so that you can fight for them. Never accept no for an answer.
How did you decide to start building awareness and advocating?
I reached out to Cure SMA and got names and numbers of parents to talk to. I spent hours talking, learning, and tapping into everyone who could help. But it was really hard having to do it all on my own. There wasn't content available. The more I spoke to other people, the more I could feel that I was less alone and less rare. After that, I became the mom that people were referred to talk to. We can make a difference together, and you do that in community. I'm very proud that today all of this information about care protocols, the condition, and support is easily accessed on the Cure SMA website. I'm so proud to make this path easier for everyone.
What advice would you give to other parents about plugging into disease organizations and how to best work with organizations?
It will be your lifeline but do your research, make sure the organizations are legitimate. What is their main focus, how do they spend their money, and are they an organization that will help your child achieve the goals you want for them? Gain help from others. Be specific and tell them how they can help. Provide your community the facts about the progress you're making.
Can you talk about the importance of hope?
It's really been the hallmark of our journey; it's what's fueled us. What we learned was that hope fueled us, but anything else drained and destroyed us. So I do believe that you have to consciously focus on hope. I learned to take things day by day. Enjoy the good moments with your child.
LINKS & RESOURCES MENTIONED
Mary McHale
https://www.linkedin.com/in/marydigginsmchale/
https://www.facebook.com/mary.diggins.mchale
Cure SMA
https://www.curesma.org/
Ionis
https://www.ionispharma.com/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING - EPISODE 5
Lighting the Way with Once Upon Gene Podcast Host & Rare Mom Effie Parks
When Effie’s son Ford was born with an extremely rare genetic condition called CTNNB1 syndrome, not only did she dive into the world of advocacy, but she launched the Once Upon a Gene podcast, a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie also hosts the Once Upon a Gene TV show on the Disorder Channel. In this episode, we discuss the challenges parents face on the rare disease road and Effie offers ideas and tips to light the way.
EPISODE HIGHLIGHTS
Can you tell us about your son Ford and tell us a bit of your story?
When Ford was born, he had a really low birth weight and feeding issues. After 3 months, our pediatrician said, “I’m worried about Ford; you need to take him to Children’s.” We heard words like failure to thrive, hypotonia, microcephaly, and we left with an NG tube. We got connected with a geneticist. They said it was CTNNB1, and there were 30 kids in the world with it.
How did your experience lead you to create the Once Upon a Gene podcast?
In the beginning, feeling like nobody knew what I was going through and feeling so isolated. I found some comfort in a couple of podcasts, The Two Disabled Dudes being my main one. I was so inspired by what they were doing, and I noticed it was healing me and relaxing me, and it was giving me so much hope. I was so incredibly thankful, and ultimately, I wanted to do the same thing for someone else. I knew it was a piece of my purpose.
What are some of the common challenges you hear people up against?
Self-care is such a big one. It can be confusing, intimidating, and overwhelming. I draw four oxygen tanks and put something in each one that I have to do each day, no matter what. I learned box breathing, and that was life-changing to learn. Check out Rose Reif, a therapist for people who have disabilities and their caregivers. She teaches that self-care is the small, consistent things that you make habits that you do every single day no matter what.
What is another pain point you hear from parents?
Feeling alone, feeling isolated, feeling misunderstood. That’s when people start to look for books, podcasts, blogs, and following advocates to feel less alone. Find what makes you feel warm and gives you energy. Go find your people. We can’t do this alone.
What about Inclusion? What tips do you have to help others include our children?
You have to create boundaries for yourself. It’s a muscle that we have to work. We should come at it with the intention of grace and educating, and just being kind. I’m always trying to get Ford involved. There’s a resource called the Friendship Circle that is all over the country, and I highly recommend it.
What other pain points?
We are talking about money a lot and how expensive our life is. The Disorder Channel and I just did an episode on the financial stuff. There are groups on Facebook in your neighborhood, and there are sites for parents like you who swap equipment or give away extra supplies or old equipment. I highly recommend finding those groups to take a little bit of the burden of paying for some of this stuff off your shoulders.
Any parting words to our listeners, mama to mama?
Accept all of your emotions. They’re valid. Notice them. Work through them and let them go. Keep moving and find hope anywhere you can. Find whatever your purpose can be from this to help someone else. Once you can find a glimmer of hope, don’t let go of it and find out what you can do with it because there is nothing that can stop a rare disease parent.
LINKS & RESOURCES MENTIONED
https://effieparks.com/
https://www.thedisordercollection.com/
https://rosereif.com/
https://www.friendshipcircle.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING - EPISODE 4
Best Case Scenarios with Special Education Community Advisory Committee Chair & Rare Mama Rachel Niemeyer-Sutherland
When Rachel's daughter Sophia was diagnosed with Anophthalmia, the absence of a fully formed eye in her right eye, and Microphthalmia or small eye in her left, Rachel left her opera performing career to care for Sophia. At the age of seven, Sophia received the genetic diagnosis of RARB, a gene alteration in her Retinoic Acid Receptor Beta gene. At that time, Sophia was the only known person in the world with her specific mutation. Since then, Rachel has learned how to work with both researchers and other rare parents to advance treatment options. Rachel is also the chair of one of California's largest school district's Special Education Community Advisory Committees. Rachel offers up ways to work with researchers, tips for collaborating with special education administrators, and how she's learned to focus on best-case scenarios.
EPISODE HIGHLIGHTS
Can you tell me about Sophia?
At two days old, I was told Sophia was blind and that her cognitive and motor functions would be limited. A few weeks later, it was confirmed that she had sight in one eye. A year later, we received a cerebral palsy diagnosis and eventually she was diagnosed with RARB. Sophia is now 13 years old, rides a horse, and walks with assistance.
Any advice about how to keep pushing for answers?
Journal and keep notes and data to give to doctors. Try your best to learn to speak the doctor's language and learn as much as you can about your child's diagnosis.
How do you move forward with a diagnosis where there aren't a lot of other known cases?
The first thing I did was research. The next thing I did was widen my network to potentially find other patients. I looked at papers published and connected with the authors. I posted on Facebook about Sophia's RARB diagnosis and my network continued to grow. When you begin connecting with others, share information and knowledge to refine the possibilities.
What have you learned about how to work with researchers?
I learned about the National Institutes of Health (NIH), learned how to submit to clinical trials, how to do research, and about repurposed medications. Global Genes was a huge resource, and they have a Rare Patient Advocacy Summit each year that is very helpful. In addition, I take notes and share them with researchers and doctors as giving them specifics is critical.
What is your role in your school district's Special Education Community Advisory Committee?
The Community Advisory Committee is made up of parents, educators, and community members who work collaboratively to improve programs, services, and communications for students with special needs. We discuss concerns, identify how to support parents, and advise the district and educational specialists.
What are some learnings for navigating special education?
Create a document that tells everything about your child and share this information. Go to your school district and ask for the organization that serves as the liaison between special education administration and parents and plug into that organization. Build a relationship with your child’s case carrier.
What advice do you have for mothers who have a child with a newly diagnosed rare disease?
Breathe and realize that a diagnosis is a starting place. It's essential to have hope because you don't know what your child will be capable of. It's important to assess parameters and know the worst-case scenario, but always ask for the best-case scenario. Knowledge is power and will help you navigate through. No matter how bleak the situation, realize the possibilities. Never give up.
RESOURCES MENTIONED
Global Genes
https://globalgenes.org/
National Institutes of Health
https://www.nih.gov/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING - EPISODE 3
Happy, But Different with Boston Children's Epilepsy Center Coordinator & Rare Mom Colleen Gagnon
Colleen Gagnon is the Clinical Coordinator of the Epilepsy Center at Boston Children’s Hospital, a nurse, and a rare disease mom herself. Her daughter Niamh was diagnosed with a rare genetic mutation of the brain called Subcortical Band Heterotopia. That diagnosis came with a myriad of other diagnoses, including epilepsy, cerebral palsy, and autism. In this episode, Colleen shares valuable insights from her perspective as both a medical professional and a mother. From the importance of allowing yourself to grieve your child’s diagnosis to how parents can effectively collaborate with their child’s care team and how life with a rare disease is often different but can be happy—Colleen shares it all!
EPISODE HIGHLIGHTS
How did you enter the world of rare disease?
My daughter was born prematurely at 34 weeks, was healthy but small. From the beginning, I had an instinct that something was different. She woke up fussy and crying and then began having seizures. The MRI results were shared with us at the hospital, and we found that Niamh had a brain malfunction called Subcortical Band Heterotopia.
What advice do you have for parents to effectively collaborate with their care team?
Find a good nurse because they can coordinate things and get things done for you. I always appreciate parents who are asking questions and want to know more as long as it’s not adversarial, too intense, or confrontational when approaching the care team. Be an advocate, be honest, be open, and be transparent. Have a realistic sense that you don't have 24-hour access to your healthcare team, and they're doing their best to tend to everyone. I think many nurses and physicians go into this field because they do have a deep sense of wanting to help people and make a difference. So you’re working with people who came into this field for that reason, so really, we’re more allies.
What have you learned through parenting Niamh that has helped you professionally?
When your child has a chronic illness, challenging behaviors, and a significant intellectual disability, it’s hard to talk about, and sometimes there’s a stigma. I see parents struggle with it. I want to tell them that I know how you feel, it’s okay, you’re not alone. I can give those parents the advice that they need to be part of a group and community. They need that support. Because of my experiences, I have an extra sense of knowing what parents need and what I can offer.
What advice do you have for parents who have a new diagnosis?
Be patient, especially through therapies. Look at things over time instead of day-by-day to see improvements because they're not going to be instant. Don't give up on something too soon. Don't let your child's rare disease overtake your life. Find joy in your family, in your other children, and with your partner. Move on and find your place beyond the disease. You'll have great moments in life; it's not all sad. With patience and time, you'll find joy. You can lead a very happy life. It might look different, but it can still be happy.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING - EPISODE 2
Mother's Day Episode with A Rare Mama's Mama
I once heard someone say that motherhood is the hardest thing they've ever done and the greatest privilege they've ever known. In this special Mother's Day episode we'll talk about the hardest things and the greatest privileges. My mother, Myrna Liepold, studied child development, is a trained counselor and she has many years of motherhood experience. She is a truly remarkable woman, a force of strength, a beacon of light and an extraordinary mother. From one rare mama to another, happy Mother's Day.
EPISODE HIGHLIGHTS
What mindset is important to have for motherhood?
A capable mindset because you're going to need to learn new things and realize that you are capable. Each day brings new opportunities for growth and learning a s a mother. It's an opportunity to think of the new possibilities that learning can bring.
What are the most important qualities you think are essential for motherhood?
Endurance and perseverance. Things are going to come up to throw you off balance and you'll be faced with challenges. You need to learn to persevere and be resilient to push through the pain and move forward. Patience with your child and yourself is important. You're human and you're learning, so don't beat yourself up when things go wrong. Give yourself some grace.
Can you talk about building a foundation of love?
Love makes a child feel secure in knowing that no matter what happens, they're loved. It provides comfort and warmth in the midst of whatever they experience and builds their confidence knowing they're heard and seen. Home is love.
What are the best things you can do to prepare your children for life?
Teaching them to handle the ups and downs- to enjoy life and how to handle hard times. There's going to be hardships and if you can instill the value of optimism and hard work, that's going to carry them through and will help them throughout their life.
How do you find hope?
Through my faith. I turn to scripture. I hope and expect that tomorrow will be a new day and that this too shall pass.
How do you maintain a sense of joy in hard times?
I think it's a choice. You can be frozen in pain and experiences or decide to move past the pain and be joyful. You have to feel the pain and face it, don't deny it. But then don't stay there. It's not healthy. Find a way to get up, move forward, find your sense of humor and joy despite the circumstances.
How have you maintained the woman you've wanted to be through motherhood?
It doesn't come easy and you have to struggle through it. It's important to remember that you can always start again even when you take a step back.
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com
RARE MAMAS RISING - EPISODE 001
The Sunshine in the Storm with Rare Cancer Mom & Advocate Stacey Walthers Naffah
Stacey Walthers Naffah is a rare mama of a daughter diagnosed with ewing's sarcoma, an extremely rare cancer with fewer than 1000 cases per year worldwide. Stacey has risen up from her daughter's difficult diagnosis to become a childhood cancer advocate and a Director of the Children's Wisconsin Foundation board.
EPISODE HIGHLIGHTS
How did your rare disease journey start?
Our story started when my daughter was 8 years old. She was complaining of pain in her calf and was having a hard time sleeping. The pediatrician referred us to a sport's medicine provider for two weeks of PT. Very soon into the PT, the pain worsened and began travelling up her leg, over her back and down the other leg. After two weeks, we had x-rays which showed a lightning bolt in her sacrum and we went on to have an MRI. We learned from the doctors that they saw a cancerous process occurring. She went through two challenging surgeries and confirmed she had a very rare cancer called ewing sarcoma.
How have you had to push beyond your fears and capabilities through this journey?
It's a series of instances, big and small. One instance that comes to mind is in the beginning when we were pushed to start treatment almost immediately while we were in a surgery to put my daughter's chemo port in. We thought we'd get the port placed, talk to our doctors to lay out the plan and have a couple weeks to regroup before we started treatment. During the port surgery, we had to decide on starting treatment right away. We moved straight from surgery recovery to cancer treatment. It was shocking and it left us wondering if we had made the right decision to start treatment right away or if we should have explored the clinical trial.
Where do you find hope?
One of the places I found the most hope was in the way my daughter looked at me. She looked at me like I knew what I was doing, with such hope in her eyes that I was going to figure this out. I found so much hope in my daughter's resilience and fighting spirit. My faith is also important to me and knowing there was something to be learned from the journey was powerful for me personally. Other families and other moms like me provided a lot of hope through hearing their stories and how they were evidence that I was capable of more than I thought I was. Honestly, I looked for hope wherever I could find it— the sunshine in the storm.
How are you using your experience to help other parents on similar journeys?
I think it's important and powerful to have one-on-one conversations, listening, to give advice and talk through the fears, concerns and lessons learned. I have an unbelievable network of people around me and we all help each other. We started a charity called the Sunshine Squad, which creates hospital room decorating kits and other fun things. We create drives and deliver the kits to Children's Hospital of Wisconsin, where my daughter was treated. Through advocacy, I was invited to be part of the Children's Wisconsin Foundation board and I'm really proud of the work being done.
What's the best piece of advice you have for a mom with a child who has been newly diagnosed with a rare disease?
Take a deep breath, center yourself and know that you're indeed capable of so much more than you think. Take help from others, articulate your needs, shield yourself from unproductive people and emotions and find your people. Focus on taking care of yourself so your own health doesn't suffer, both physical and mental wellness. Trust your gut- you know your kid.
LINKS & RESOURCES MENTIONED
The Sunshine Squad
https://www.thesunshinesquad.org/
Children’s Wisconsin Foundation
https://giving.childrenswi.org/
CONNECT WITH NIKKI
https://www.facebook.com/RareMamas1/
https://www.instagram.com/Rare_Mamas/
Website
https://raremamas.com/
info@raremamas.com