Rare Mamas Rising: A Rare Disease Mom Podcast

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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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

Facebook

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

Instagram

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

Website

https://raremamas.com/

Email

[email protected]

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]