RARE MAMAS RISING- EPISODE 21 

Lifting Her Voice & Envisioning Change with “Through Evely’s Eyes” Founder & Rare Mama Tameka Diaz

Tameka Diaz is a mother of three, a homeschool teacher, a full-time caregiver to her daughter, who has multiple disabilities, an advocate, and a singer. In 2015, Tameka’s daughter Evely was born and diagnosed with bilateral anophthalmia, a rare condition causing her to be born without eyes. Evely has received several diagnoses since birth, though her underlying rare genetic disorder is still unknown. Tameka started “Through Evely's Eyes” in honor of her daughter to advocate and assist other medical families. She pushes her local government for accessibility of braille and sensory books in libraries, consults and advises other caregivers, and organizes medical supplies and equipment donations. Tameka dreams of an accessible and inclusive tomorrow, and in this episode, you’ll see that she’s not just dreaming; she’s doing!

EPISODE HIGHLIGHTS

• Tameka & Evely’s story 
• How Tameka created Through Evely’s Eyes to advocate for Evely and others   
• The ways Tameka rises to the challenge of being a rare mama
• Tameka’s mantra
• How Tameka and Evely use music and singing to help them through challenging times
• Tameka’s best advice for other rare mamas

LINKS & RESOURCES MENTIONED

Tameka Diaz

Instagram: www.instagram.com/thediazgirls 

Facebook: vwww.facebook.com/throughEvelysEyes

CONNECT WITH NIKKI

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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: [email protected]

Global Genes

https://globalgenes.org/

CONNECT WITH NIKKI

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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

[email protected]

The Avalon Foundation

https://kidscaringforkids.org/

https://www.facebook.com/theavalonfoundation

CONNECT WITH NIKKI

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 16

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

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

CONNECT WITH NIKKI

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

RARE MAMAS RISING- EPISODE 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

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

A North Star in a Rare Universe with CURE Founder and Rare Mom Caroline Cheung-Yiu  

For over 12 years, a cruel and debilitating disease slowly robbed Caroline’s son Alex of his abilities. Countless medical and genetic tests and some of the best physicians, scientists, and researchers in the world were perplexed by Alex’s condition. Then in 2018, through miraculous intervention, Alex’s genetic data was reanalyzed, and he was found to have a newly discovered, rare, non-inherited, spontaneous genetic disease called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) or IRF2BPL related disorder. During the time Caroline was relentlessly seeking answers for her son’s constantly shifting illness, she created a community called Complex, Undiagnosed, Rare, and Extraordinary (CURE). CURE connects families lacking a diagnosis for their child and empowers them with local resources to forge ahead in their diagnostic odyssey. Caroline believes we are all stars lighting up the sky in the rare universe, and once you meet Caroline, you’ll undoubtedly see why for those in the undiagnosed community, she’s a “North Star!” 

EPISODE HIGHLIGHTS 

• The unlikely way Alex's diagnosis was ultimately discovered (you won’t believe it) 
• How Caroline maintained hope as years passed without answers 
• Caroline's best resources and insights for parents whose children are still on a diagnostic journey  

LINKS & RESOURCES MENTIONED 

Caroline Cheung-Yiu 

www.cureundx.com 

www.alexsodyssey.com 

Undiagnosed Disease Network - NIH 

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

Rare Genomes Project - The Broad Institute 

https://raregenomes.org/ 

Center for Rare Childhood Disorders - TGen 

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

Precision Medicine Clinic - Rady Children's Genomic Institute 

https://radygenomics.org/families/ 

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

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

iHope Genetic Health - Illumina and Genetic Alliance 

https://ihopegenetichealth.org/ 

CONNECT WITH NIKKI 

Facebook 

https://www.facebook.com/RareMamas1/ 

Instagram 

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

Website 

https://raremamas.com/ 

Email 

[email protected] 

RARE MAMAS RISING- EPISODE 013  

10 Minutes with a Rare Mama  

Catherine Oh - Congenital Nephrotic Syndrome Mom 

Introducing "10 Minutes with a Rare Mama!" 

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

LINKS & RESOURCES MENTIONED 

Catherine Oh 

www.catherineoh.com  

[email protected] 

CONNECT WITH NIKKI 

Facebook 

https://www.facebook.com/RareMamas1/ 

Instagram 

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

Website 

https://raremamas.com/ 

Email 

[email protected] 

RARE MAMAS RISING- EPISODE 012  

The Passion Behind, Behind the Mystery with Co-Creator & Rare Mom Carri Levy & Writer/Producer Brittany Cocilova 

Carri Levy had been chasing a diagnosis for her daughter Ilana for years when she found The National Organization for Rare Disorders (NORD) and learned over 7,000 rare diseases exist. Carri’s colleague Molly Mager’s life was also impacted by a rare disease when her twin brother was diagnosed with Acinar Cell Cystadenoma, a rare pancreatic tumor. On a quest to find a diagnosis for Ilana and bring more awareness to rare diseases, Carri and Molly pitched an idea for a short series on rare and genetic diseases. What started as a six-part series has turned into a recurring segment airing on Lifetime TV’s morning show The Balancing Act. Brittany Cocilova joined the show as the writer/producer/director for the series. Her own personal health struggles have enabled her to relate to patients to help them tell their captivating and emotional stories. With over 100 segments to date, Behind the Mystery has been a lighthouse for rare patients and their families, helping them get a diagnosis or learn more about their disease, find specialists, tertiary centers, clinical trials, organizations, community, and more. In this episode of Rare Mamas Rising, Carri and Brittany share their inspiring personal stories, their dedication to making the show, and why they decided to dedicate the 2022 Behind the Mystery Rare Disease Day Special to rare moms. Take a listen and hear the passion behind, Behind the Mystery. 

EPISODE HIGHLIGHTS 

• Carri’s story navigating an undiagnosed illness for her daughter Ilana until eventually receiving the diagnoses of primary immune deficiency disease, dysautonomia, and postural orthostatic tachycardia syndrome (POTS) 

• Carri’s continual pursuit of a diagnosis for Ilana’s unanswered symptoms  
• Ilana’s book Surviving and Thriving with an Invisible Chronic Illness  
• Brittany’s health struggles including undergoing two kidney transplants  
• The purpose Brittany’s found working on the show 
• The meaningful reason for creating Behind the Mystery and goals for the show’s future 

• The powerful connections that have been made for rare patients as a result of the show 
• Collaborations with partners and organizations and their investment into improving the lives of rare patients  
• Ways patients and caregivers can help spread rare awareness  
• Advice and learnings for patients and parents navigating a rare disease diagnosis  
• Highlights from The 2022 Rare Disease Day Special featuring Tracy Dixon Salazar, Caroline Cheung-Yiu, Nikki McIntosh, and The National Organization for Rare Disorders (NORD 

LINKS & RESOURCES MENTIONED 

Behind the Mystery 

TheBalancingAct.com/rare 

https://www.instagram.com/behind_the_mystery 

https://twitter.com/btmcaresforrare 

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

The Balancing Act  

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

https://twitter.com/BalancingActTV 

https://www.facebook.com/TheBalancingActFans 

Carri Levy 

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

Brittany Cocilova 

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

National Organization for Rare Disorders (NORD) 

https://www.rarediseases.org 

Surviving & Thriving With An Invisible Chronic Illness  

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

CONNECT WITH NIKKI 

Facebook 

https://www.facebook.com/RareMamas1/ 

Instagram 

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

Website 

https://raremamas.com/ 

Email 

[email protected]