Newsletter
Once Upon A Gene

Once Upon A Gene

True stories of raising rare kiddos

Latest From Series

The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger

ONCE UPON A GENE - EPISODE 111 The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger Elisa Seeger lost her son Aidan as a result of Adrenoleukodystrophy (ALD) disease. As she was sitting next to his hospital bed researching this awful disease, she learned of a newborn screening test for ALD which wasn't being utilized. Since Aidan has passed away, Elisa has been determined to ensure the ALD newborn screening test is used in every state. Thanks to her advocacy, New York and 24 other states are now testing. Now her efforts extend beyond ALD and she's working to get all diseases with a viable treatment available to be on newborn screening tests across the country. EPISODE HIGHLIGHTS Can you tell us about Aidan? Aidan was born in 2004, perfectly healthy, giant blue eyes, full of life, and we had no reason to believe anything was wrong with him. He was walking at 10 months old, did well in school and played sports. In first grade, he started having some vision problems which prompted a diagnostic odyssey going from ophthalmologists to pediatric ophthalmologist to retina specialists and back to his pediatrician who recommended we see a neurologist. The neurologist didn't think anything was wrong, but ordered an MRI, and when the results of the MRI came back, Aidan was diagnosed with Adrenoleukodystrophy (ALD). ALD is an X-linked inherited metabolic condition, which most severely affects boys and men. Aidan was diagnosed with a cerebral form of ALD, which is the most severe. We began our mission to try to save his life, but he lost his life on April 29, of 2012.  Where is the gap of having a screening test for ALD and the fact that not one state in the country was using it on newborns? That's what I've been working on and putting all of my efforts into. There are currently four conditions on the federal recommended uniform screening panel that are not being screened for nationwide. Those include MPS-1, Pompe, ALD and SMA. I've realized the primary reason why states don’t move forward is because they don't have the funding to do so. There are currently only 17 states testing for all the conditions. My efforts have been focused on trying to get appropriations from the federal government to go directly to the states so this problem can be fixed. We're asking for  $15 million a year for every state to become Recommended Uniform Screening Panel (RUSP) compliant by 2025.  How has leading this crusade helped in the grieving process? I'm grateful to have so many families in my life that I've met along the way and I feel they've all been touched by Aidan.  How can people help in these efforts and what can they do in their own states? If anyone is interested, please reach out to me and I can share a one pager that explains what we're doing and where all the states stand. I need all the help I can get.  What has been a moment in your work over the last several years that's made you feel the closest to Aidan's memory? The signing of his law which was 11 months to the day of his passing and was very spiritual for me. I know he had his hand in that. I get frustrated at times, but little signs from Aidan keep me going. CONNECT WITH ELISA Email  [email protected] ALD Alliance Website https://www.aldalliance.org/ LINKS & RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.clubhouse.com/club/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/
December 2, 2021

Effisode – Grief and Joy are Mingling this Holiday Season

Intro music by Scott Holmes
November 30, 2021

Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey Beckett

ONCE UPON A GENE - EPISODE 110 Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives In this special Thanksgiving episode, Tyra Skibington and Tracey Beckett share stories of rare unicorns— people who go above and beyond in the rare disease community. Sam's Day A story of a Christmas tree farmer named Ted who makes it possible for kids to spend a day on the farm with their families, enjoying wheelchair accessible hayrides, hot chocolate, and choosing their special Christmas tree. A Beautiful Gift A friend offered a stay at her ski resort condo over the New Year holiday. It was a beautiful gift and was just what the family needed to slow down, recharge, heal and connect.  Craig When a family is blessed with a vehicle when they need it most, a chain of giving follows, bringing this story of generosity and kindness full circle. A Lesson in Friendship When a new girl moves into the neighborhood, her mother shows her the value and importance of being a good friend.  Our Daughter Harper A story of Dr. Harper, who went above and beyond when a couple received an in-utero diagnosis. She helped them through their early diagnosis with kindness, empathy and respect. A Little Goes a Long Way Surrounded by medical staff, two in particular go above and beyond and stand out among the rest. It's the little things like good coffee and a special visit that make a hospital stay a little better for Jordan and her mom. Darby's Birthday Every year, a Certified Education Assistant delivers a custom jacket to Darby on her birthday which has been modified to be easily worn.  A New Bike A story of angels gifting money to build a bike made especially for Ford. The donated bike makes Ford happy, but has also helped Ford to build muscles in his legs. Abby's Blessings A true unicorn friend, Abby's thoughtfulness, wisdom, kind and energetic spirit blesses those around her. LINKS & RESOURCES MENTIONED Move 2 Advocate https://move2advocate.com/ Freedom Concepts https://www.freedomconcepts.com 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/
November 25, 2021

A Rare Collection – Rare Disease Storytelling – What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

ONCE UPON A GENE - EPISODE 109 A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins 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. Big brothers Noah Siedman, Grayson Skibington and Nash Hawkins share their sibling stories.  EPISODE HIGHLIGHTS Noah Siedman I'm afraid of losing my memories with my brother as I grow older. I'm afraid of letting his importance to me diminish in light of all of the new experiences that I get to have in his absence. My brother was a brilliant soul. His life meant growth,  understanding and love for everyone. My name is Noah Seidman. My brother Ben had a rare genetic disorder called Sanfilippo syndrome and passed away seven years ago. I know for sure that I love my brother. And I know that I'm slowly figuring out how to be okay despite not knowing a lot else for sure.  Grayson Skibington My sister Darby is two years younger than me and her diagnosis of Pallister-Killian syndrome is all I've ever known. For the first few years of my life, I was in the hospital a lot as the brother of a medically complex sister. I don't remember those days of course, but I have a scrapbook of pictures of me licking popsicles at the hospital. What I knew for sure back then, was patience equals popsicles. At age 17, I adapted to our family life by helping the best way I could. I stayed out of trouble, I did as I was asked, and I was positive and cheerful when the house needed it. Being a rare disease sibling can be complicated and messy. It can also be easy and wonderful. I don't take much for granted. I appreciate a helping hand and I will always be grateful for popsicles. Nash Hawkins Other homes don't have revolving doors of therapists. Other families go to restaurants and movies. We don't. However, my friends don't have a sister like mine who finds wonder in the mundane and whose belly laughs fills the room with joy, or a nonverbal brother who speaks volumes with his hugs and soul piercing stairs. Life with my siblings can be complicated and chaotic. Life with my unique family has taught me great things. I'm adaptable and resilient. Change, challenge and chaos do not faze me. I'm patient and empathetic. Because of my siblings, I recognize that disability is a diversity that colors our world in beautiful ways. RESOURCES AND LINKS MENTIONED https://courageousparentsnetwork.org/ https://curesanfilippofoundation.org/what-is-sanfilippo/ https://www.fam177a1.com https://siblingsupport.org/sibshops/ https://pkskids.net/ 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/
November 18, 2021

Effisode – Find the Connection

Intro music by Scott Holmes
November 16, 2021

Finding Hope From Diagnosis to Action – LMNA Related Congenital Muscular Dystrophy – Hannah Lowe

ONCE UPON A GENE - EPISODE 108 Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe Hannah Lowe is the President and Co-Founder of the L-CMD Research Foundation. Her son Austin has a rare form of muscular dystrophy (L-CMD) caused by a genetic mutation and she's urgently working to find a cure for her son and other kids like him.  EPISODE HIGHLIGHTS Can you tell us about your children? I have two sons— Ean who is four and Austin who is two. Last year, Austin was diagnosed with a rare disease resulting from a randomly occurring genetic mutation. He was about 6 months old when he was diagnosed. Austin wasn't gaining weight, so after 6 months he was admitted to the hospital to get a feeding tube to aid in nutrition. He was in the hospital for three weeks while they ran a series of tests to find the underlying cause of his low weight. Every test came back clear until the genetic tests came back. That's when it was discovered that Austin has a single point mutation on the LMNA gene which results in L-CMD, which is a rare form of muscular dystrophy. What did you do after you got Austin's diagnosis? After getting a new routine worked out, we turned our attention to figuring out what we can do. We started making connections, talking to everyone and gathering information. L-CMD has a fair amount of research happening for the gene itself because genetic mutations of the gene cause about 12 other diseases. Through networking, we connected with a group of other rare disease families working on treatments and cures for their own rare diseases. With some helpful connections, we took baby steps to start a nonprofit. What roadblocks have you hit and what would you do differently? The biggest roadblock is expectation versus reality. When we first started, researchers told us the pace of research is slower than the progression of the disease. We didn't accept that, but it has been a big mindset shift to know this is in fact the case. CONNECT WITH THE L-CMD RESEARCH FOUNDATION L-CMD Research Foundation Website https://www.lcmdresearch.org/ L-CMD Research Foundation on Instagram https://www.instagram.com/lcmd.foundation/ L-CMD Research Foundation on Facebook https://www.facebook.com/LCMD.foundation L-CMD Research Foundation on Twitter https://twitter.com/foundationlcmd RESOURCES AND LINKS MENTIONED Discord Chat https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 104 - A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt https://effieparks.com/podcast/episode-104-rare-collection-courage Givebutter https://givebutter.com/ 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/
November 11, 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.
View All Episodes

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.

You may also like

Top Health Podcasts. Delivered to Your Inbox and Eardrums.

Join Our Newsletter

Proudly supported by:

cover
Reporting Powers: Insights in Action Moved by the unprecedented stress and strain on nurses and our health systems, Johnson & Johnson, in partnership with the American Nurses Association and the American Organization for Nursing Leadership, set out to understand the various ways that the nursing profession evolved amidst the pandemic.