Once Upon A Gene

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Kids & Family
**Once Upon A Gene**

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.

Latest Episodes:

Effisode - The Magic of Friendship at the North Pole Dec 14, 2021

Show notes

Intro music by Scott Holmes

Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay Dec 09, 2021

Show notes

ONCE UPON A GENE - EPISODE 112

Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay

Jessica Patay has three kids- one born with prader-willi syndrome. She joins me today to discuss the relationship and complexity of sibling's experiences and how she navigates the extra layer of parenting. She founded a nonprofit called We Are Brave Together, which hosts the Brave Together podcast. We Are Brave Together provides respite, community and mentoring for mothers raising children with disabilities and medical complexities.

EPISODE HIGHLIGHTS

Can you tell us about yourself and your family?

I've been married to my husband Chris for over 24 years and we have three kids. Luke is 21, Kate is 16, and Ryan is 18 and has prader-willi syndrome, a rare genetic disorder.

What was it like having a child with a rare genetic disorder before there was connection through social media?

I tried to keep up with email and chat groups, but I got overwhelmed with and would only pop in chats periodically to see what people were posting. I didn't know the beautiful connections I was missing like what you can form today. My husband and I joined prader-willi support groups, found our people very early in the journey, and we were able to create a tribe without the presence of social media.

What were your fears or hopes when having a third child?

Ryan was an easy baby and it left us wanting another child. We thought about Luke a lot and wondered if he'd grow up feeling like an only child. We wanted him to have another sibling and we wanted another child ourselves.

Have Luke and Kate had to grow up faster than most kids?

They've experienced crisis after crisis. They're amazing human beings who are resilient, wise, patient, loving and compassionate. It's really hard for siblings. We have tried, but there's no way of fully compensating for what they go through.

Do you discipline all of your kids equally?

Each kid is different, but Kate and Luke have been disciplined differently than Ryan because consequences don't work. I discipline on principle to demonstrate to Luke and Kate that Ryan does still have consequences despite them not changing his behavior.

Can you tell us about We Are Brave Together?

We are a 501c3 organization I launched in 2017 with the intent to combat the isolation and compassion fatigue that moms of children with disabilities or challenges face. Our focus is moms and we offer support groups, educational workshops, retreats and respite scholarships. We also launched a podcast, Brave Together.

LINKS & RESOURCES MENTIONED

We Are Brave Together Website

https://www.wearebravetogether.com/

Brave Together Podcast

https://www.wearebravetogether.com/podcast.html

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/

The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger Dec 02, 2021

Show notes

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

elisa@aldalliance.org

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/

Effisode - Grief and Joy are Mingling this Holiday Season Nov 30, 2021

Show notes

Intro music by Scott Holmes

Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey Beckett Nov 25, 2021

Show notes

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/

A Rare Collection - Rare Disease Storytelling - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins Nov 18, 2021

Show notes

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/

Effisode - Find the Connection Nov 16, 2021

Show notes

Intro music by Scott Holmes

Finding Hope From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe Nov 11, 2021

Show notes

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/

The Joy Doesn't Need to be Ambiguous Even Though The Grief is with Rare Merrf Disorder Mom - Jessica Fein Nov 04, 2021

Show notes

ONCE UPON A GENE - EPISODE 107

The Joy Doesn't Need to be Ambiguous Even Though The Grief Is - Rare MERRF Syndrome Mom Jessica Fein

Jessica Fein is the mom to three children. Her middle child, 15 year old Dalia, has MERRF Syndrome, a rare form of mitochondrial disease. This degenerative disease has affected her being able to talk, walk or eat like she was able to do when she was younger.

EPISODE HIGHLIGHTS

Can you share a little bit about your children?

We adopted three children from Guatamala— Jojo, Dalia and Theo. Dalia's birth mother is the only mother we've met. The first time we met her was when we went to adopt Dalia. A couple years later when we went back to Guatamala to adopt Theo, Dalia's birth mother wanted to meet with us. In just two years, her health had declined, but they weren't sure why. Years later when Dalia was diagnosed with MERRF Syndrome, we learned the condition is maternally inherited and what had made her birth mother so sick in such a short period of time.

What has Dalia's diagnostic journey been like?

At first, Dalia developed normally. At about two years old, her speech was delayed and her toddling was wobbly. I was reassured she was fine, I'd call for early intervention again and we repeated this cycle for a while. Finally a doctor agreed to do a hearing test, which showed mild to moderate hearing loss and Dalia had to get hearing aids. Since Dalia was adopted, we weren't sure of the root cause of her hearing loss, so we did genetic testing. With the blood work results, Dalia's disease was immediately identified as myoclonic epilepsy with ragged red fibers (MERRF).

When you imagined your family's future after adopting three children and then it changed so drastically with Dalia's diagnosis, what truths did you realize?

I re-imagined my dreams once when we weren't able to have biological children. I was able to embrace a new dream and realize that in many ways adopting would be more interesting and adventurous. The re-imagining still unfolds because things continue to change with a degenerative disease. There's a sadness that for a long time, I didn't give myself permission to feel. More recently I became familiar with the idea of ambiguous grief— when you're grieving someone who is still alive or you're grieving parts of a person who is no longer here. It was freeing for me to understand I was grieving what I thought her life was going to be and what our lives were going to be.

How has the experience of being Dalia's mom helped you find purpose?

I feel committed to sharing Dalia's story and our story. Doing that has given me a lot of perspective and purpose. Part of my purpose is talking about it, raising awareness, sharing what I've learned and helping those who aren't as far along in their diagnosis journey. Dalia is such an amazing person and I want people to know her story.

RESOURCES AND LINKS MENTIONED

Once Upon Gene TV - Disorder Channel

https://www.thedisordercollection.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