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/

ONCE UPON A GENE - EPISODE 239

Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster

Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope.

EPISODE HIGHLIGHTS

How does chronic stress affect us physically?

The muscle tissue is our body represents our emotional holding and our bone structure represents our thinking mind. Muscle tissue holds us up and helps us move and stay flexible. When there's stress or trauma, pain can happen and without attention, the body will become significant. When we're in pain, it's difficult to care for kids, sleep, and go to work. Things compound and things start spinning, leading to a flight or fight response. It's important to be able to recognize when that pattern shows up and what to do about it before it consumes you, so that you're affected physically less often.

What techniques can help with jaw tension and pain?

The jaw holds our teeth, moves up and down to chew, and somatically, the joint of the jaw represents flexibility and adaptability. When joints become rigid, there's a pattern of resistance to change and emotional inflexibility. Keeping your mouth shut when you're experiencing strong emotions, like anger, can cause jaw pain because of bearing down and swallowing, creating tension in the muscles and joint over time. Expressing to the degree that you can is healing because the emotion comes up and out. 

As a long-term caregiver, how do you build resiliency?

Connection will help support your nervous system and will help you to better regulate. It's important to have connection with someone who isn't going to fix you, who will be there when you need to release and vent, that you can talk to about your emotions around grief, rage, sadness or shame, because it takes the edge off and it softens the hit.

How do we take notice of our pain and tension and take action?

We all have access to nature, whether it's a plant in your home or a backyard area. At least once a day, notice nature— the color, sound, feeling. This helps to get in the visceral sense of feeling versus surviving and being in the mind and thinking. Connect with your people to create a sense of safety and understanding. When our systems feel safe, they can relax. Get rest and, if needed, get the help you need to make time for rest. Any type of meditation or breath work that are mind-body geared are helpful, even if uncomfortable, because feeling the feeling helps to move that energy out of you. Exercise in any way possible to get you into your body, which will help you come out of your mind and the emotional looping that can happen. Self-care is essential, even in little pieces of time. Put your hand on your heart and connect to the feeling of love, compassion and gratitude. Research shows this act of mindfulness and experiencing gratitude helps the body settle into a more regulated state. 

LINKS & RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 029 - Put Your Own Oxygen Mask on First

https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68

My Intuitive Body Website

https://christyfoster.co/

Christy Foster on Instagram

https://www.instagram.com/christy.f13/

Sinéad Quinn

https://www.instagram.com/sineadquinnofficial/

Rare Breathing Room

https://www.facebook.com/p/Annie-Lambert-True-You-with-Neora-100070644768526/?_rdr

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 238

Where the Glimmers Can Surface

We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but also has big black swinging doors at the rear of the store, where the employees pass back and forth as they restock the store. It was a slow time of day and the doors weren't swinging back and forth. Ford was determined, running his wheelchair into them, but the doors still were not swinging. At my suggestion that we go to the front of the store to watch the automatic doors, Ford had the ultimate meltdown, biting his arm and making himself bleed. He was screaming, holding onto his wheelchair tire so I couldn't move it and I felt like every eye was watching me as I tried to get him out of the store. We returned to the playground and his little sister approached him, asking him questions, and offering a special leaf bandaid. She returns with a stick and a leaf and she put the leaf on his arm, gently rolling the stick across it. Ford immediately stopped crying and began smiling. I immediately took my phone from my bag because I never want to forget that moment. I've always worried that my kids weren't connecting, but my daughter seems aware enough to nurture Ford in the way he needs. It was a beautiful moment, it was growth, it was a glimmer in our favorite park. In the rare disease life, especially in the really annoying moments, that's where the glimmers can surface— so keep chasing glimmers my friends!

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 237

Join Us for The Global Genes Week In Rare

The 2024 Global Genes Week in RARE is happening in Kansas City, MO from September 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy Summit and the Rare Champions of Hope Awards ceremony. Why attend? This will be four days of community, capacity building, empowering rare disease patients, advocates and caregivers, and helps organizations become research-ready and promote equity in healthcare. It's an opportunity to connect with fellow advocates and friends, to learn from the top experts and revel in meaningful connections. You'll find friends that will feel like family and leave feeling inspired, empowered and ready to take on the world. There's something for everyone! 

LINKS AND RESOURCES MENTIONED

Learn More and Register for Week in RARE

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 236

Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

Charles River Labs is a rare disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer to talk about Charles River Labs’ support, rare disease research and how patient advocacy organizations can team up with them to make a big impact. 

EPISODE HIGHLIGHTS

What does Charles River Labs do?

We are a global research organization that supports biotech companies and pharmaceutical companies to get drugs in front of the FDA and other regulators so they can initiate clinical studies.  

What do patient advocacy groups need to have in place to contract with you?

When they come to us, we will need at least the genetic testing done already, but from there we can guide them and provide supporting resources. 

Are patient advocacy group roles in research and drug development evolving? 

I've clearly seen the power of the network and families reaching out to other families. They find each other, refer each other to stakeholders that can help them along the way and genetic diagnosis is happening sooner. 

LINKS AND RESOURCES MENTIONED

Charles River Labs

https://www.criver.com/

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 235

Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein

My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience. 

EPISODE HIGHLIGHTS

What has your diagnostic journey been like?

The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life. 

How did you connect with others in the NMOSD community?

I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis.

Do you have any advice for someone who's newly diagnosed?

It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others. 

LINKS AND RESOURCES MENTIONED

Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive

https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847

Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life

https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/

Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc.

https://www.youtube.com/watch?v=cfnE7cxfY3s

ONCE UPON A GENE - EPISODE 234 - Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-katie-lloyd

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 234

Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

This new series, 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

Katie, what is your vision for this series?

I think many caregivers to family members who have rare diseases, or perhaps they have a rare disease themselves, find themselves in a really dark place initially. It feels like you're in a deep trench where everything feels hopeless and scary. I'm not really in that place anymore, life has moved on a little bit, and I see things differently. I feel differently from how I did four years ago. But some of the narratives I see online tend to stay in that deep, dark place, surrounded by a lot of negativity. What I would love to see is people who change that narrative, who bring light and joy to their communities, despite all the terrible things that are happening.

Effie, can you talk about the stories we want to share and what we want to pull from the community?

I want to feature stories from the community about when someone inspires you to be brave, or stories about perspective changes and parent positivity. I believe we rise by lifting others and even celebrating someone's achievement or highlighting someone's inspiring content shifts the narrative. The bead doesn't need to be hidden, but the good needs to be highlighted. We'd love to hear stories of bravery and community connection, how positivity has affected you, how situations have manifested into new relationships and circumstances. We want to hear about the little Glimmers and the big ones too.

Effie, what is your advice for protecting yourself from negativity?

As a caregiver who was so sad, disconnected and deeply isolated, I reached out through podcasting and got everything I needed without giving anything, because I didn't have anything to give at the time. Through this, I found my community and my people. When you're in the thick of it, you need support and embrace, and that's what listening to other people's stories did for me. My advice is to seek out a space where you can just receive, like this podcast.

Katie, what would you like to leave our friends with today?

Please don't look at this as a crusade against all negativity, because sometimes things just aren't wonderful. Instead, start to take notice of glimmers that are happening in your life and see what happens if you turn your attention to it.

LINKS AND RESOURCES MENTIONED

HNRNP Family Foundation

https://www.hnrnp.org/

ONCE UPON A GENE - Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd

https://effieparks.com/podcast/episode-125-katie-lloyd

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.fac

ebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 233

Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

LINKS AND RESOURCES MENTIONED

Project Findout

https://projectfindout.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/