Episodi
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A collection of voicemails from rare disease parents who relate to you situation.
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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/ -
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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/ -
ONCE UPON A GENE - EPISODE 232
Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC
Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports.
EPISODE HIGHLIGHTS
What is genetic testing and what does the first appointment involve?
Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child.
Why is it important for parents to consider doing genetic testing?
There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team.
Can you talk about the barriers to genetic testing and how to overcome them?
The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria.
LINKS AND RESOURCES MENTIONED
Project Findout
https://projectfindout.org/
Probably Genetic
https://www.probablygenetic.com/
CTNNB1 Connect & Cure
https://curectnnb1.org/
NSGC Find A Counselor Directory
https://findageneticcounselor.nsgc.org/
Follow Abby Turnwald on Instagram
https://www.instagram.com/pedsgcabby/
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 230
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick
Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a break.
EPISODE HIGHLIGHTS
Can you tell us about yourself and your diagnostic journey?
I am a mom of three children and my oldest, Theo, was diagnosed a month after his first birthday with a rare condition called TBCK Syndrome. We started a foundation to build a community. Then, four years later, we found out that one of the genetic mutations offered a different diagnosis. With the misdiagnosis, we have been at a crossroads because we have built and grew a community for the initial diagnosis, but our advocacy efforts need to shift. We have been working to put the right people in place to carry the foundation forward and I'm still figuring out at what level I want to stay engaged.
How do you navigate and find balance between spending time with family and also your advocacy efforts?
When Theo was diagnosed, I jumped into advocacy to heal and cope and that's how I've learned to channel my emotions into something tangible and taking action helped me. In the last two years, I've felt like I am missing out on time with my kids and I've had to take a step back from advocacy a bit to just be a mom. I have no regrets for outsourcing care to do advocacy work and I'm grateful to be a part of the community, but I want to be clear on what makes sense for this chapter of our lives and what my goals are. I'm figuring it all out as I move through it.
Have you felt societal pressures about how to balance family and advocacy and how do you validate your advocacy commitments?
I feel lucky that everyone around us is supportive and has shown up for us in many ways. If anything, I've been my harshest critic. I push when I can and I don't beat myself up when I have low energy or high emotion days.
What advice do you have for parents trying to balance family and advocacy?
Listen to the touchstones you come back to, your inner voice, because that's your truth. Have self-compassion and don't beat yourself up as you find balance and determine what your family needs are.
LINKS AND RESOURCES MENTIONED
Librarey
https://www.librarey.com/
The TBCK Foundation
https://www.tbckfoundation.org/
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
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ONCE UPON A GENE - EPISODE 229
Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber
Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to share about the collaboration.
EPISODE HIGHLIGHTS
What is a registry and why does a patient group need to have one?
A registry is a way to organize data as it relates to a particular disease. It's useful to bring the community together to learn where patients are in the world, aligning patients with clinical trials, and monitoring how a disease progresses over time. Sharing and publishing results collected in the registry also helps to bring awareness about the disease.
What inspired the launch of a joint registry?
Our populations have an overlap in patients and we wanted to make it as easy as possible for patients and caregivers to participate in the registry. In addition to centralizing the registry overlap, we've made the process optimized for mobile, all in one place and as seamless as possible.
What is the importance of participating in a registry and a natural history study?
Participating in a registry and natural history study are among the most important things you can do to contribute to the research of your disease. It doesn't cost anything but your time and there's no better way to get an accurate count of the patient population than through patient registries. This tool helps with having conversations with biotech companies and to prove that you're a commercially viable disease.
What is next for the registry and what are your goals?
We still have a lot of work left to evangelize the registry and educate our community on the difference between a registry and natural history study, explaining how crucial they both are. The work we're doing with the registry combined with newborn screening advocacy and we won't be able to be ignored anymore.
How can rare disease families start a registry?
There's a working group called Best Data Practices for Rare Disease Patient Foundations and Researchers on PHUSE with resources available on how to start a registry. The materials are easy to read and follow and they're available to everyone.
LINKS AND RESOURCES MENTIONED
Global Genes Conference - Week in RARE
https://globalgenes.org/week-in-rare/
ONCE UPON A GENE - EPISODE 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
https://effieparks.com/podcast/episode-228-strength-in-unity
ONCE UPON A GENE - EPISODE 194 - A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
https://effieparks.com/podcast/episode-194-a-guide-for-rare-disease-patient-advocacy-groups
Patient registries: a practical guide for patient organizations
https://sophiazilber.gumroad.com/l/registries
Hope for PDCD Foundation
https://www.hopeforpdcd.org/
Cure Mito Foundation
https://www.curemito.org/
CoRDS
https://cords.sanfordresearch.org/account/login
Best Data Practices for Rare Disease Patient Foundations and Researchers
https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+Patient+Foundations+and+Researchers
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ONCE UPON A GENE - EPISODE 228
Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to discuss the critical role of unity among our rare disease patient advocacy organizations and why it's important to stick together. We'll also talk about the transformative potential of everycare initiative.
EPISODE HIGHLIGHTS
Why is it critical for rare disease advocacy organizations to strive for unity?
When there's splintering of fracturing among disease groups, there are less resources within each effort and there's a risk of duplicating efforts. There are also only so many experts to participate in a scientific advisory board and there may be competition for those experts among groups.
What is your best advice for organizations who may be experiencing competition or friction?
Friction happens because we care so much and we're driven to find treatments and solutions. When you want rapid solutions, it's important to recognize that the objectively best and fastest way to make an impact is working together collaboratively and consolidating resources.
What advice do you have for ultra-rare disease organizations that are worldwide and have a unique issue of centralizing patients and financial strength?
In the past I've seen this done well where existing organizations support new organizations starting in new regions of the world by sharing resources and materials and being a supportive partner. It's critical for disease organizations to work together on a global scale.
Can you tell us about Every Cure and how it aims to revolutionize treatments for rare diseases?
Every Cure is on a mission to unlock the full potential of every approved drug to treat every disease possible. When a drug is approved for one condition, there's often dozens of other diseases that the drug might be effective in. Every Cure was launched when learning that there was an incredible untapped opportunity to treat more diseases than approved drugs were originally intended for. There are also systemic barriers that prevent the untapped potential from being tapped into. I'm alive, along with thousands of other patients, because of drugs not intended for a disease that we re-purposed.
LINKS AND RESOURCES MENTIONED
Chasing My Cure: A Doctor's Race to Turn Hope into Action; A Memoir
https://chasingmycure.com/books/
Every Cure
https://everycure.org/
ONCE UPON A GENE - EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action
https://effieparks.com/podcast/episode-43-david-fajgenbaum
Share Your Drug Repurposing Insights
https://everycure.org/insights/
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ONCE UPON A GENE - EPISODE 226
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland
Jillian and Scott Copeland are husband and wife, advocates and pioneers who have transformed their personal journey of having a child diagnosed with epilepsy. They have taken off on a quest to create supportive and inclusive environments for kids with disabilities and founded a school, an inclusive living community and the Epilepsies Action Network. They're a force also shaping the policy landscape.
EPISODE HIGHLIGHTS
Can you first tell us about yourselves and your family?
Our journey started about 30 years ago and we've had four sons. Our third son, Nicol, is about to turn 25 years old and when he was 8 months old, he had a prolonged seizure for over two hours and it took us on a different parenting journey than we expected. Since then, we've raised our children together and explored opportunities and possibilities for Nicol, which took us down the path that brings us to today. Our journey with Nicol has given our family a lot of meaning and purpose and it's been an amazing journey.
Given that genetic testing hasn't revealed answers for what has caused his epilepsy, how have you managed to navigate the uncertainty and maintained such positivity and strength?
Nicol is the lead, the model and we follow his example. Nicol is a wonderful model and he shares a lot of love and joy. He will have a terrible seizure, have to be medicated, feel awful after and wake up the next day with joy. We've had to manage fear and worry, but we take on Nicol's "the sky's the limit" and "can-do" attitude. We don't have the power to control or change a lot, but we do have a choice in how we see it and how we live life. We're both controlling people, but we had to come to terms with what we couldn't control. We'll keep living to the fullest and sharing and feeling love the best we can.
Can you tell us about The Diener School?
When Nicol was six, he was attending a school that wasn't the best fit for him and we decided to start a school. We found great partners and professionals to help us and we started The Diener School in 2007. The school is a multi-sensory experiential approach with very talented educators, therapists and behavior specialists who work with the kids and with each other. There are elements of the connection of movement and learning, social thinking and other essential curricula and strategies needed for kids who don't learn traditionally and learn through the senses.
What is Main Street all about?
Main Street is a 70 unit building in Rockville, Maryland where 25% of the units are set aside for individuals with disabilities and 75% of the units are affordable, serving households at 60% or less of the area's median income. On the ground floor, there's a 10,000 square foot community space and it's an inclusive environment open to anybody through membership. It's a place for people to find their happy, to be a part of a community and feel like they belong.
What is the Epilepsies Action Network?
Epilepsies Action Network brings together a widespread community of epilepsies in one unified voice to lobby the federal government for funds for the epilepsies because it's an under-funded disease, and as a result, there haven't been a lot of treatment advances or breakthroughs.
LINKS AND RESOURCES MENTIONED
ONCE UPON A GENE - EPISODE 224 - The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
Epilepsies Action Network
https://www.epilepsiesactionnetwork.org/
Rare Epilepsy Network
https://www.rareepilepsynetwork.org/
The Diener School
https://thedienerschool.org/
Main Street
https://mainstreetconnect.org/ -
ONCE UPON A GENE - EPISODE 225
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief.
EPISODE HIGHLIGHTS
As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing?
It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.
What coping mechanisms help you to write and talk about your experience?
I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.
What would you say to the young person who is living the same life you were living and what questions should people ask that person?
The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.
What are the misconceptions people have about death?
The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it.
How has your relationship with your sister changed?
Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.
As a parent, how do you help siblings to have a better experience?
Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it.
LINKS & RESOURCES MENTIONED
ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins
https://effieparks.com/podcast/episode-109-what-i-know-for-sure
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