Once Upon A Gene

Episode Highlights:

Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explains the importance of universal design, and discusses how sharing your story can be a catalyst for change.

Mindy also talks about her book, The Truth About Things That Suck, and the role of mindset in overcoming adversity. Packed with inspiration and actionable advice, this episode is a must-listen for anyone looking to make the world more accessible, one step—or one flight—at a time.

Links:

Get Involved and Take Action:

Tune in and join us in supporting accessible, inclusive travel!

Airplane Travel Tips from a One Million Mile Traveler

The recent passage of the FAA Reauthorization Act

ONCE UPON A GENE - EPISODE 133

The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber

Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt.

EPISODE HIGHLIGHTS

Where does your career in genetic counseling begin?

I was fortunate to get into the program at Sarah Lawrence College, where the field of genetic counseling originated. I wanted to be a medical provider with a focus on helping people understand genetics. I also enjoyed the counseling side and focused my early career in high-risk obstetrics. I opened my personal practice to provide ongoing supportive care to patients, parents and families who are experiencing something related to genetics, during pregnancy, in pediatric settings or as adults. 

How do you help a parent who feels an overwhelming guilt after their child is diagnosed?

I sit with them, I'm present and I listen. Guilt is self-imposed and it's easy to get stuck in guilt and the early stages of depression after a diagnosis. Sometimes it takes time, but my hope is that someone can eventually see that the guilt they feel isn't necessarily the appropriate emotion. I remind patients to be good to themselves and to journal about why they feel guilt so they can take the feelings from their heart and head, put it on the paper and expel or release it.

How is feeling ashamed different from guilt?

Parents sometimes feel ashamed as a result of thoughts they've had about their child. We're all human and we have faults. When we're tired or overwhelmed, we have negative thoughts. Feeling ashamed, just like feeling guilty, isn't justified when you're trying to do your best. 

What advice can you share for supporting someone who is going through a genetic diagnosis?

My patients often don't want to share their news because they don't want to be pitied and they don't want to get questioned, especially when they can't answer a lot of questions themselves. Just be there, listen, reflect on what they say, validate their feelings and try not to bombard them with questions.

LINKS & RESOURCES MENTIONED

Listening Reflecting Healing

listeningreflectinghealing.com

Varient App 

https://www.varientapp.com/

Once Upon a Gene TV

https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

https://effieparks.com/podcast/episode-114-noah-siedman

National Society of Genetic Counselors

nsgc.org

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7

Apple Podcasts

https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347

Stitcher

https://www.stitcher.com/podcast/once-upon-a-gene

Overcast

https://overcast.fm/itunes1485249347/once-upon-a-gene

ONCE UPON A GENE - EPISODE 245

Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie

Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recently, she's shifted her focus to community and established the Colorado Mama Tribe.

EPISODE HIGHLIGHTS

Can you tell us about the Colorado Mama Tribe?

It's been a passion project for me that came out of necessity. When I was new to raising children with rare disease, I was very alone and lost, desperate to find someone who shared a similar story to me. It started with a small group of moms getting together and we've now grown to 400 members. We have monthly meetups for moms, which serves as a social opportunity, but also an opportunity to share and be supported by a community who gets it. We also have a yearly respite retreat and we put together care packages for moms in the hospital with their kids. We recently started providing free group and individual therapy for moms and we've started a bereavement group.

How do you fundraise and support your programming?

As we've grown, we've assembled different committees and we have an amazing fundraising committee who is rocking it. As a board, we largely handle fundraising and logistics to keep events mostly free and subsidized to take the burden off moms so they feel supported and taken care of through our offerings.

What advice do you have for other parents who want to create something for their own community?

It only takes a few people to commit to setting a time and place and showing up. Month after month, more and more people will show up and it can grow naturally. Set up a Facebook group, communicate dates and times and people will come.

How has your self-care shifted through your pivot?

Self care looks different and there's no time for bubble baths or massages right now. Colorado Mama Tribe has been a huge part of my self-care, forcing me to get out of the house, take time for myself away from my family and meet up with friends. I spend time out and about to reset, commiserate and celebrate. Additionally, it makes me feel better connected to my daughters because I'm allowing myself balance.

LINKS & RESOURCES MENTIONED

Colorado Mama Tribe on Facebook

https://www.facebook.com/groups/coloradomamatribe

Lightning and Love

https://www.lightningandlove.org/

ONCE UPON A GENE - Episode 074 - Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation

https://effieparks.com/podcast/episode-074-lightning-and-love-foundation

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.

facebook.com/groups/1877643259173346/

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 243

Chasing Glimmers - Electric Love Disability Retreats

Chasing Glimmers is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We're sharing inspiring stories from the community, life lessons we've learned and exploring how glimmers light our way forward. In this episode, we're joined by Colleen Jendreas, the Founder of Electric Love. Electric Love is a nonprofit resource and support for caregivers, with a focus on adventure retreats, hiking, river rafting and extreme outdoor activities. In the rare disease world, she is sparking change, connecting families and helping them find the glimmers, even in the toughest of times. 

EPISODE HIGHLIGHTS

Can you tell us about yourself?

I am the Founder of Electric Love, a resource I developed for caregivers where we connect and go on adventure-style retreats. I'm also raising a kiddo, Owen, who has Lennox-Gastaut Syndrome (LGS), a severe form of Epilepsy. I was catapulted into this world in 2017 and I am out here trying to raise awareness and do something positive for the community that saved me when I was in a dark place.

What have you learned about serving others through raising Owen?

When you're getting a diagnosis, you go through an intense, emotional, traumatic journey and we realize things will be very different from what we imagined. When it happened to me, I was going through extreme depression and I couldn't even get out of bed. There were people I had met through various support networks who provided me guidance and encouragement and they were my lifeline. With their support, I climbed out of a horribly dark place and it changed a lot for me. I started reaching out to others who were going through the same things, and together, we built a connection that just grew from there.

Where did the idea come from to start Electric Love?

It started with me and a few other Epilepsy moms who I connected with on social media. We started video chatting and meeting up, realizing how healing it was to connect and build friendships. When we were talking about our shared interests, we talked about how healing it was to be in nature and how we missed having the time and ability to be outside. It all started with a small group of us going to Zion.

LINKS & RESOURCES MENTIONED

Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)

https://globalgenes.org/week-in-rare/

Electric Love Website

https://electric-love.org/

Electric Love on Instagram

https://www.instagram.com/electric.love.retreats/

Raising Owen on Instagram

https://www.instagram.com/raising_owen/

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 242

Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections

I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an important topic to touch on since so many of us face these friendship challenges. What do we do about it?

EPISODE HIGHLIGHTS

Find your people.

You don't have to let go of old friendships, but it's important to expand your circle to include people who get what life is like for you and your family. Find Facebook groups, explore blogs, reach out to former OUAG guests, or connect with other parents in the waiting room of the doctors offices. Use the power of the internet and social media to find your people.

Remember who you were before rare disease.

It is easy to forget who we were before we were a caretaker. Connecting with close friends to do activities you enjoyed before caretaking was at the center of your purpose can help you grow and keep your essence.

Be intentional.

Think about the friendships you want to cultivate and be very intentional about it. Find the people who get your life and know what it's like, then find the friends you'd connect with if it weren't for rare disease. Be intentional about finding meaningful connections with people you'd be friends with no matter what, even before rare disease.

LINKS & RESOURCES MENTIONED

Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)

https://globalgenes.org/week-in-rare/

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 241

Chasing Glimmers - What's Glimmering with Katie Lloyd

Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together!

EPISODE HIGHLIGHTS

Take a break

A break is important to transition away from difficult moments and help you to look back to where you were and where you are. A break and stepping away allows you to see all the wonderful things for what they are, but getting away isn't just taking a vacation or going somewhere. Small, frequent breaks can be really helpful too. Consider what's logistically possible and be realistic about how to take a break.

Small scale, big impact

Take a nap during the day, and if you can't, lay on a yoga mat and just rest. Distract your kids in a way that carves out time to exercise. Take off your shoes and socks and go outside. Get grounded with Mother Earth and be in nature. Using breathing exercises can help to calm your nervous system and allow you a moment to re-group. Tap into the network of those you trust to give you a break from caregiving.

The generous rare disease network

I became friends with someone in the US and she made a beautiful baby blanket for me. Shipping the blanket was going to be really expensive and my friend didn't know how to get it to me. Another friend of mine happened to be visiting the US and has since brought the blanket back with her to Switzerland for me. I'm so grateful for beautiful people doing wonderful things.

For the love of focaccia

In the last year, I've been making bread, trying to perfect focaccia. I nailed it the other day and I was so proud of myself. It was the crispiest, fluffiest, most beautiful focaccia I have ever made and I now I want to make it for everyone on my street.

LINKS & RESOURCES MENTIONED

Learn More and Register for Week in RARE (use code FRIENDOFEFFIE)

https://globalgenes.org/week-in-rare/

ONCE UPON A GENE - EPISODE 237 - Join Us for The Global Genes Week In Rare

https://effieparks.com/podcast/episode-237-week-in-rare-2024

Look Again: The Power of Noticing What Was Always There

https://www.amazon.com/Look-Again-Power-Noticing-Always/dp/1668008203

Tender

https://www.amazon.com/Tender/dp/1529331218

Do Walk: Navigate earth, mind and body

https://www.amazon.com/Do-Walk-Navigate-earth-body/dp/1907974962

Marco Polo

https://www.marcopolo.me/

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https:

//www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 240

A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She

Yiwei She is a powerhouse mom to little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary. 

EPISODE HIGHLIGHTS

Can you tell us about Leo's diagnostic journey and how that inspired you to start the TNP02 Foundation?

Leo's head circumference wasn't what it should have been and then he had a seizure at two months old. Sequencing pointed to a mutation in a gene and we hit the ground running right away, tapping into our scientific backgrounds. At first, our world came crashing down, but we also had a very fortunate set of circumstances where we could maybe change Leo's outcome if we did the right things. We were thrown into the deep end, but we looked to others and learned a lot from the people who had already paved the way.

What is the process for developing an ASO therapy and how do you make the connections to launch it?

We had a friend that was in the biotech industry which proved to be a key link for us. We had other friends and parents that helped to connect us as well. Networking is really important because people can help guide you and advise on the best labs to work with. 

Can you tell us about Project Baby Lion?

The idea behind Project Baby Lion is to take what I've learned and do it again better, in a more sustainable and systematic way. The first phase is to do diagnostics better, combining sustainability with urgency, starting with NICU whole genome sequencing. We hope to prove with data, the potential sustainability of personalized therapeutics within the ultra-rare populations. As early as possible, we want to connect patients and families with their advocacy groups, and where there isn't yet a community, we will try to put together a rapid program to develop a therapeutic plan.

What are the goals for Project Baby Lion and Leo's ASO therapy in the future?

The most helpful thing to come from Leo's trial will be the sharing of the data and clinical protocol so other families and foundations have a blueprint and recognize that it's possible. We want to put our data where our mouth is and share it out to catalyze a culture of sharing. For Project Baby Lion, I hope to attract investment and interest from the biomedical industry because we can solve the hard problems for our kids, and they're worth it. 

LINKS & RESOURCES MENTIONED

TNP02 Foundation

https://www.tnpo2.org/

Project Baby Lion

https://www.tnpo2.org/project-baby-lion

Learn More and Register for Week in RARE

https://globalgenes.org/week-in-rare/

Creyon Bio

https://creyonbio.com/

Charles River Laboratory

https://www.criver.com/

Combined Brain

https://combinedbrain.org/

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/