208 episodes

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

Once Upon A Gene Effie Parks

    • Society & Culture
    • 5.0 • 3 Ratings

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

    A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis

    A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis

    ONCE UPON A GENE - EPISODE 154
    A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis

    Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their programs. Learn more by visiting Terry's website, cureSPG50.org or by connecting with him on social media.

    EPISODE HIGHLIGHTS

    Can you share a little bit about Michael's diagnosis?
    Michael was born healthy, but wasn't hitting milestones like my other children. We learned through testing that he had a disease called Spastic Paraplegia Type 50 (SPG50). Shortly after the diagnosis, we began researching and reading articles, we flew to meet with experts in gene therapy and signed a contract a month later to start a gene therapy program which kicked off our journey.

    Is there a point where it's too late for gene therapy?
    I don't think it's ever too late for gene therapy. My perspective is that if children can get it from 1-6 months old, gene therapy can be a cure. After that, gene therapy becomes less of a cure and more of a treatment. Unfortunately for Michael, gene therapy is a treatment and not a cure, but our goal is to cure kids by getting SPG50 on the newborn screening panel so we can cure kids- not treat them. 

    What is your advice for other families who are on a journey to fund gene therapy and drug development?
    Families have to understand that a lot of money has to be raised and they have to be willing to give up a lot to get the money you need. You have to have a solid family and the right team. Get your community involved, get friends and family involved and think outside the box to spread awareness about your disease. I encourage families to take my classes and reach out to me throughout the gene therapy and drug development journey.

    CONNECT WITH TERRY
    Website
    https://www.curespg50.org/
    Facebook
    https://www.facebook.com/CureSPG50
    Instagram
    https://www.instagram.com/cure_spg50/
    Twitter
    https://twitter.com/CureSPG50
    Email
    info@CureSPG50.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

    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 TV
    https://www.thedisordercollection.com/

    • 30 min
    Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi

    Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi

    ONCE UPON A GENE - EPISODE 153
    Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi

    Bre Gastaldi is known as the Inclusive Educator and she teaches school districts how to implement inclusive practices. She's also a special education teacher. She joins me for a discussion on diversity and inclusion in all aspects of education and the school setting. 

    EPISODE HIGHLIGHTS

    Can you tell us about yourself and your work as an inclusion expert?
    I got into special education by way of my own neurodivergence. I was diagnosed with ADHD in middle school, studied psychology as an undergrad and I started understanding myself better and fell in love with psychology and working with kids. I got my masters degree and began teaching, eventually becoming an inclusion specialist. I was also looking for ways to include my students in a variety of activities. My students excelled because of it, the school culture shifted and I began working with other teachers and administrators to improve inclusion practices. I have since branched off and became the Inclusive Educator. 

    What is the biggest misconception around inclusion?
    Inclusion isn't a program because true inclusion exists within your child's general education classroom- it's not a class they go to. If only certain students can be in an inclusion program, it isn't inclusive. Inclusion is an undeniable sense of belonging from the time a child walks into a classroom. It's a feeling of belonging and being valued and celebrated. 

    How does inclusion affect a general education student?
    A 2008 analysis of several studies found that inclusion had a neutral to positive impact on neurotypical students in 81% percent of studies. When there's an inclusive classroom and culture, all students are learning more. School districts doing a good job being inclusive reveals an increase of graduation rates. Inclusion impacts general education students in that they improve in academics, but they're also socializing with a reduced sense of fear, they generally have a stronger self esteem and better sense of self.

    What are your top tips for inclusion?
    Let your child lead because they will tell you one way or another when they're ready to participate more. As a parent, be intentional about making positive connections with the multidisciplinary team. If your child isn't being included, start slowly with focusing on what their interests are.

    LINKS & RESOURCES MENTIONED
    The Inclusive Educator Website
    https://www.theinclusiveeducator.com/
    Connect with Bre on Instagram
    https://www.instagram.com/the_inclusive_educator/

    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

    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 TV
    https://www.thedisordercollection.com/

    • 37 min
    Effisode - Shake It Off

    Effisode - Shake It Off

    Intro music by Scott Holmes

    • 6 min
    A Rare Collection - Underestimated

    A Rare Collection - Underestimated

    ONCE UPON A GENE - EPISODE 152
    A Rare Collection - Underestimated

    There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. 

    EPISODE HIGHLIGHTS

    Ryan Sheedy, Dad to Reynolds
    When I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the University of Notre Dame. Rudy was too small, didn't have the grades to go to college and he was dyslexic. Now that I'm a dad, I love this movie even more because my son Reynolds is a real-life Rudy. He was diagnosed with an ultra rare disease called Costello Syndrome at 18 months old. Reynolds has spent 103 days in the hospital, has undergone countless surgeries, his medical team consists of 30 doctors and with an ultra rare disease, he is incredibly complex and medically fragile.  Reynolds never quits, he inspires many and reminds me to never underestimate the power of determination. 

    Stephen Hager, Dad to Emma
    When we were pregnant with our daughter, we underestimated how she would completely define who I was. When a neurologist explained her condition to us and said she would only live a few more months, we underestimated how resilient she would be. We underestimated the bureaucratic red tape we would encounter to get equipment and services. When we got services, we underestimated how draining it would be to take her to therapy five days a week. I underestimated how hard this life would be and how often I would need support. I also underestimated how readily people would offer support. 

    Christopher Andrade, Dad to Logan
    My wife Katie and I are raising three children. I always knew I wanted children, but underestimated how much I would love them. I love my children fiercely. Logan was diagnosed with Noonan Syndrome at a year old. Regardless of his condition, he was still my perfect son and nothing would change that. It was a struggle to get through the six months after Logan's diagnosis. I underestimated how painful it would be to be a parent. I remember the day the oncologist told us our son had cancer. I underestimated how painful it is to watch our children hurt and struggle, enduring things they shouldn't have to. It was brutally hard. When it came to his heart surgery, I underestimated what it would be like to see him after and the journey to recovery. When I started advocating online, I underestimated the toll it would take on 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/

    • 18 min
    Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

    Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

    ONCE UPON A GENE - EPISODE 151
    Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

    Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy. 

    EPISODE HIGHLIGHTS

    Adam, what are some of your favorite quotes and why?
    One that stands out in terms of transitioning into the rare disease space is from Daring Greatly and says, "What we know matters, but who we are matters more." This was impactful to me because when rare disease happened and I was losing my career, transitioning into survival mode, I had to find myself again and remember that who I was mattered more. 

    Katie, can you share a quote that has impacted you?
    It's very scary to be vulnerable and it reminds me of the quote, "Tell the story of who you are with your whole heart." Last time I was on the podcast, I shared vulnerable thoughts and feelings and later worried about who would hear them. This quote reminds me that it's important to open up and share and that it helps others feel they're not alone. Brene talks a lot about shame and says, "Shame is the fear of disconnection." When we are vulnerable, especially talking about rare disease, we connect and we feel more open and less ashamed.

    LINKS & RESOURCES MENTIONED
    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
    Episode 052 - Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story
    https://effieparks.com/podcast/episode-052-adam-johnson-mitochondrial-myopathy
    Brené Brown, TEDxHouston: The power of vulnerability
    https://www.ted.com/talks/brene_brown_the_power_of_vulnerability
    Dare to Lead
    https://brenebrown.com/book/dare-to-lead/
    Atlas of the Heart
    https://brenebrown.com/book/atlas-of-the-heart/
    Brené Brown: Atlas Of The Heart on HBO Max
    https://www.hbomax.com/series/urn:hbo:series:GYivWaAXEZMLDwwEAAACz
    Daring Greatly: How the Courage to Be Vulnerable Transforms the Way We Live, Love, Parent, and Lead
    https://www.amazon.com/Daring-Greatly-Courage-Vulnerable-Transforms/dp/1592408419
    Parents As Rare Podcast
    https://rarediseasedad.com/parents-as-rare-my-pod
    A Very Rare Adventure Blog
    https://averyrareadventure.com/
    The Imaginary Dad Podcast on YouTube
    https://www.youtube.com/channel/UCxSX6fMdpfcruG_Tt3JJ0TQ/featured

    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

    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 TV
    https://www.thedisordercollection.com/

    • 39 min
    Effisode - Inclusion Revolution

    Effisode - Inclusion Revolution

    Intro music by Scott Holmes

    • 2 min

Customer Reviews

5.0 out of 5
3 Ratings

3 Ratings

lucy275478 ,

Great podcast!

Such a great podcast. As a trainee genetic counsellor I have learned so much from listening to ‘once upon a gene’ and gaining insights from families who have been directly affected by many different genetic conditions. Thanks so much Effie for this, I look forwards to hearing the next episode ☺️

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