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Once Upon A Gene

Once Upon A Gene

True stories of raising rare kiddos

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A Rare Collection – Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point 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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s Ataxia Kyle was diagnosed with Friedreich’s Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. 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/
September 16, 2021

Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care – Donovan Quill

ONCE UPON A GENE - EPISODE 099 Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill Donovan Quill has made it his personal mission to help patients who suffer from an orphan disorder that has affected his entire family, Alpha-1 Antitrypsin Deficiency. His advocacy efforts have led to his role as the CEO and President of Optime Care, a nationally recognized pharmacy, distribution and patient management organization. Donovan is also the host of the Rare Voices podcast.  EPISODE HIGHLIGHTS Can you tell us about the Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency is a genetic disorder where the body doesn't make a protein that protects your lungs or liver from deterioration. Most of my family suffers from the lung effects of the disease, but my father had both the lung and liver related effects of the disease and passed away from liver failure. Most of my aunts and uncles passed away in their 40's from lung and liver components of Alpha-1 and my father passed away at 69 because of his treatment and the care model he managed and lived. What was the defining moment that shaped how you run Optime Care? My father had a bright light about him, was education focused and always wanting to learn and that rubbed off on me, learning as much as possible about the patients we serve and the disorders we work with. My parents instilled traits in me to do the right thing, make sure people are cared for, and treat everyone with respect. Diagnosis day is something my family experienced several times and it helps me to think about how patients react to and experience diagnosis and all that they go through. What rare patients go through on a daily basis has shaped what we are as a company, how we develop care plans and treat patients. What is the most meaningful thing that has happened since starting your company? I say the greatest metric we have is the relationships with our patients and the success of the company. The individuals who support the mission get letters from patients, invites to personal events like birthdays, holiday dinners and celebratory milestones. Patients stop in to see us when they're traveling in the area to meet their care coordinators and pharmacists. That's what has been the most rewarding for me, seeing the impact the care coordinators, pharmacists and nurses have on patients. It's a special, magical experience. Can you talk about the Rare Voices Podcast? Everyone has a voice and to really understand the rare disease world, you have to look at the patient perspective and also understand there's a lot that goes into bringing a drug to market, getting a drug covered or building a care program. So many people become their own advocates and push to bring about change in the world of rare disease, so we've found people to tell their story on the podcast. People aren't running away from their story, they're not hiding their story- they want to tell it and there's a mission behind it. The more we can get people to tell their story, the more awareness we can get around disorders and diseases that affect only a small number of patients. We want people to be aware of rare diseases that need more attention so we can get research, development and resources for finding treatments and cures. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Optime Care https://www.optimecare.com/ Donovan Quill Linkedin https://www.linkedin.com/in/donovan-quill-428a9211 Rare Voices Podcast https://www.optimecare.com/rare-voices/
September 9, 2021

Effisode – Ford Goes to Kindergarten

Intro music by Scott Holmes
September 7, 2021

Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO – Ethan Perlstein

ONCE UPON A GENE - EPISODE 098 Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein Ethan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club.  EPISODE HIGHLIGHTS What inspired your work as an entrepreneurial scientist at Perlara? It started at a professional crossroads when my sister received a rare disease diagnosis and it opened my eyes to the rare disease world. With a new personal connection to rare disease, having heard from patient groups on Twitter and being a professional crossroad, Perlara was born.  Talk about the relaunch of Perlara 2.0. Originally Perlara 1.0 set out to be the first biotech public benefit company (PBC) with a patient-centered model, finding families and foundations to be drug co-developers. Perlara 2.0 revolves around cure sherpas and guided cures. Guided cures is the process of finding medicines for ultra-rare disease with cure sherpas- scientists who devote time to a family or foundation on their rare disease journey. At Perlara, we are acting as a marketplace to match up cure sherpas with families and foundations that need a guided cure.  How can patient groups create a self-sustaining financial model? Crypto technology is being applied in the world of financing and there's over a trillion dollars of value sitting in crypto assets, mostly bitcoin. This could be put to work through communities staking liquidity pools and putting crypto to work. Communities could also issue coins in stock as a way to fund raise. Small communities can find creative ways to bypass traditional funding gatekeepers and access potential market value and put it to work. Pioneers are needed to explore crypto enabled crowd-funding. Taxes and pharma profits are another way to raise funds. Funding follows the plan, not the other way around. What do you mean by that? With a focus on a deliverable, project, tangible goal- something to fundraise around with a crowd-funding campaign. It's great energy, but the challenge is when you've spent the funds and didn't get the desired outcome. The temptation in the beginning is to take any action, but energy should be thrown into more than one project and have a bigger plan so you can fundraise for contingencies and access additional funding partners. Where should parents seek out resources to begin fundraising and building a plan? Perlara, along with other organizations, offers resources to start. The first resource should be the scientist who has dedicated their career to the gene responsible for the rare disease. Identify who the scientists are in the beginning and make those connections. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Gene Fixers Club  https://www.joinclubhouse.com/club/thegenefixers Perlara https://www.perlara.com/ Ethan Perlstein on Twitter https://twitter.com/eperlste 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
September 2, 2021

A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom – Carole Bakhos

ONCE UPON A GENE - EPISODE 097 A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos Carole Bakhos' eight year old daughter Yara was diagnosed with Jordan's Syndrome five years ago. She shares how being Yara's mom has been an enabling journey of love, fear, joy and hope. Carol is the Project Manager for Jordan's Guardian Angels.  EPISODE HIGHLIGHTS Can you tell us about your family? We started on the rare disease journey when my daughter was two years old, diagnosed with a rare disease in the gene PPP2R5D, now known as Jordan's Syndrome. At the time, there were six children in the world who were known to have the disease, so we weren't given a lot of information. Our journey started as one of fear of the unknown and isolation. The diagnosis wasn't the end of our journey, but the start of a world of self-educating, learning and connecting. Now we have a global family that understand our experience. How did meeting others help you take action and accept Yara's diagnosis? You realize it's not just about your child, but it's much bigger than that and the impact becomes that much bigger, more powerful and rewarding.  Were you able to keep working or did you stay home to care for Yara full time? The first three years, I tried to do it all— working and focusing on my career, meeting with Yara's therapists at lunch, coming home to work with Yara, staying up all night reading and researching, creating activities for her and obsessing over it all. I got used to this routine and one day I knew I had to stop. I took six months off to focus on Yara, getting research started, collecting data and organizing the group. It was a tough decision and I struggled with it. Fate was kind to me and I'm now able to channel my skill and passion into my work with Jordan's Guardian Angels, connect with other families and make a difference. What are your tips for changing your perspective and mindset in these circumstances? I remember a moment of sulking and I thought about Yara and realized I was letting a beautiful thing that came into my life be a source of pain. I didn't want her to bring me anything but joy. I decided to love and celebrate Yara and give her a chance to make me happy. While thinking of the future can sometimes feel overwhelming, I want to ensure I give Yara the opportunity to continue filling my heart with joy. What work is Jordan's Guardian Angels doing? Jordan's Guardian Angels was started by the Lang family after their daughter Jordan was diagnosed with what is now called Jordan's Syndrome. The foundation has put together a research team from ten institutions and we meet every other month to share updates on the work and treatments path. We were able to get a grant that launched our work forward and we continue to open doors and turn stones over. Jordan's Syndrome has now been connected to Epilepsy, Autism, Alzheimer's, Parkinson's and the work we're doing can potentially bring answers to all these sub groups too. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Jordan's Guardian Angels https://jordansguardianangels.org/ A Rare Reality: the JGA Podcast https://jordansguardianangels.org/a-rare-reality/ 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 on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
August 26, 2021

Effisode – From the Sidelines

Intro music by Scott Holmes
August 24, 2021

Once Upon A Gene

This is a space I created to share the stories of our not so typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can find others who 'get it,' we can find a lot more laughter, a lot more hope and feel a lot less alone.
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Host

Effie Parks

Effie Parks

Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease.

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