Once Upon A Gene

Latest Episodes:

Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl Oct 28, 2021

Show notes

ONCE UPON A GENE - EPISODE 106

Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl

Fellow rare moms, Patti Hall and Heather Lanier have shared their journeys in their memoirs. Patti is the author of Loving Large, a story about her experience raising her son who was diagnosed with a rare disease called acromegaly, also known as gigantism. Heather is the author of Raising a Rare Girl, about her daughter who has Wolf-Hirschhorn syndrome.

EPISODE HIGHLIGHTS

What is the synopsis of the book, Raising a Rare Girl?

I start the book talking about a phenomenon called super baby, which is a pressure in pregnancy culture to make a superbaby— a totally healthy prenatal environment encouraged by medicine and the culture at large. Fiona was born full term, but really small at 4 lbs.10oz and no one initially knew why. Three months later it was discovered that Fiona had an ultra-rare syndrome known as Wolf-Hirschhorn. I talk in the book about how I processed the diagnosis and what it meant to have a child with questionable development, how to advocate for Fiona and how to help her carve her way into the world.

How did you arrive at beautiful acceptance?

When someone would say something or make me feel like Fiona was broken, I looked to her and I saw that she was the most miraculous being in my life. Despite the noise around her, I knew Fiona was amazing. I returned to what I knew to be true of her and allowed her to be the light she is.

Did you receive responses from anyone outside of the rare community who read your book?

I get notes and emails from parents who thank me because they're early in their diagnosis journey and it serves as a roadmap. I appreciate the reviews from readers who are outside the world of parenting a disabled kid, like a teacher who said she thought she was open to her students, but realized she had a lot of work to do.

Did you have a moment when you realized the experts were asking you for advice?

I write about a time when Fiona had a fever and I thought we may need to see an immunologist. I'm waiting for the doctor, who was a very good doctor, to make the same conclusion. He turned to medical literature, struggling to spell Wolf-Hirschhorn, looking for anything about the immune system as it relates to the malformation. I knew kids with the syndrome often needed immune support and that was the moment when he started to trust me more.

RESOURCES AND LINKS MENTIONED

Episode 033 - Loving Large: A Mother's Rare Disease Memoir

https://effieparks.com/podcast/episode-33-loving-large

Loving Large: A Mother's Rare Disease Memoir

https://www.amazon.com/Loving-Large-Mothers-Disease-Memoir/dp/1459746368

Raising a Rare Girl

https://www.amazon.com/Raising-Rare-Girl-Heather-Lanier/dp/0525559639

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Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona Oct 21, 2021

Show notes

ONCE UPON A GENE - EPISODE 105

Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona

Christopher Velona is a rare dad on a mission, driving the goals of Project Sebastian. He joins me to share open, honest and vulnerable experiences from his life since his son Sebastian was diagnosed with Battens disease.

EPISODE HIGHLIGHTS

Can you tell us about your family?

I have two boys, ages 16 and 18, Gage and Sebastian. Sebastian has a rare disease called Batten disease variant CLN8. As a result of seizures, we were misdiagnosed with epilepsy. When Sebastian later had an onset of issues unrelated to epilepsy such as tripping, speaking, difficulty seeing and fine motor skill loss, we were referred for genetic testing and the diagnosis of Batten disease was confirmed.

What did you do with the diagnosis?

I did everything the doctor said not to do. I went to WebMD and Google, scouring the internet for Batten disease and reading all the horrible stories online. I was also going through a divorce at the time and I was very angry, sad, resentful and lost. As the diagnosis only further drove us apart, I didn't have the support of a partner.

What has helped you transition into being a single dad and managing Sebastian's diagnosis?

I had the support of my family and friends. I'm sober from drugs and alcohol for almost 26 years and I believe in Alcoholics Anonymous, applying the twelve steps to my daily life. With life-changing news, I had to really rely on my tools or face depression. I didn't want to believe it and it was challenging, which led to depression. I used the steps, went to meetings and was able to pull myself out of the depression. I found a mom that gave it to me straight- Kristen Gray from Charlotte and Gwenyth Gray Foundation. She has two children with Batten disease CLN6. She's been a great friend and great support system.

Can you tell us about Project Sebastian?

Currently, there's no cure for Batten disease, but there are treatments available to prolong the life of the child. Project Sebastian makes a lot of noise, attacking advocacy and research efforts from all sides. I called my government officials and we co-authored Senate Joint Resolution 25 for Batten Disease Awareness Weekend, which went through the California State Senate and House and unanimously passed. As a result, the first weekend in June is Batten Disease Awareness Weekend for the state of California.

RESOURCES AND LINKS MENTIONED

Charlotte and Gwenyth Gray Foundation

https://www.curebatten.org/

Neurogene

https://www.neurogene.com/

Project Sebastian Website

https://www.projectsebastian.org/

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Effisode - Two Disabled Dudes Oct 19, 2021

Show notes

Intro music by Scott Holmes

A Rare Collection - Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlin Oct 14, 2021

Show notes

ONCE UPON A GENE - EPISODE 104

A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt

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. Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt share stories of courage.

EPISODE HIGHLIGHTS

Felix Townsin

The day his sister lost her life to Blau Syndrome, Felix thought his world was over. Courage is the ability to do something that scares you or to have strength in the face of grief and pain. Felix knows he's learned to be courageous from Lexi, and he's learned that courage is moving through the pain with no shortcuts.

Erica Jolene Stearns

Erica learned courage at a young age. As she grew, having courage meant going to the swimming pool with trach tape covering her trach, assuming the risk of diving into the water, and answering inquiries about her scars. She frequently found courage in herself when confronted by bullies. It took courage to ignore them and strength to persevere through the pain, facing the bullies again and again every day. In adulthood, courage was wrong with her child and saying it over and over again when she felt no one was listening.

Mahrynn McLaughlin

Mahrynn shares a lesson from improv class. Leaning into living with her disability, Mahrynn sometimes feels too much or too little. In living with and not despite disability, she's learning to live courageously.

Brianna Colquitt

Brianna used her training in CPR when she found her neighbor unconscious. She researched the heart, the signs and symptoms of a heart attack, which later helped her to quickly notice the signs in her dad. Through these experiences, she began working with the American Heart Association and has pursued a career in nursing.

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How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose Reif Oct 07, 2021

Show notes

ONCE UPON A GENE - EPISODE 103

How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose Reif

Rose Reif is a therapist with over 20 years experience specifically tailored to those with disabilities and caregivers and she's back to share her knowledge about the three types of fatigue we face and how we can find more balance.

EPISODE HIGHLIGHTS

What can we do as caregivers when the things we're doing for ourselves aren't enough?

Ask someone devoted to you and ask what they see you doing that could be delegated to someone else. Usually it's not the things you're doing for yourself that's a problem, but it's the things you're doing to maintain everyone else. While we as humans like routine, we also get bored easily, so consider if the things you're doing for yourself aren't fulfilling or valuable anymore.

How do you handle potentially negative feedback if you get it?

I encourage people to think of their lives as a compelling story where they're the hero. If we think of all the heroes we love, the characters have a guide and every hero needs a guide and truths along the way. Remember there's a reason you've gotten to the point you are where you're burned out and tired and acknowledge the greatness of having people in your life who speak honestly and make suggestions.

Can you explain what self care is?

It's not the weekend mountain retreat doing yoga. Self care is boring. Self care is sitting down and doing a budget at the beginning of the month so you have accountability, can make wise decisions for yourself and avoid money stress through the month. Self care is brushing your teeth, making yourself doctor's appointments and committing to little acts through the day to care for yourself.

What is compassion fatigue?

Compassion fatigue is when you experience a secondary traumatization, spending so much time with people who have gone through traumatic events that a person inherits the trauma experience. Compassion fatigue has physical ramifications in overall health and has a physical drain on the body. Compassion fatigue leads to an experience of trauma responses, dis-associating and going numb, losing the ability to care. Compassion fatigue is being newly studied in parents raising disabled kids.

Can you describe Decision Fatigue?

It has more to do with the decision maker and their wellbeing than the decision at hand. I encourage people to pre-make decisions and find ways to cut down on how many decisions you have to make in a day, especially where big decisions may be ahead.

RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 027 - Therapy Check-in with Rose Reif

Taking Care with Rose Reif on The Disorder Channel

Reif Counseling Services

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Effisode - The Kids Do NAPA Center in Los Angeles Oct 05, 2021

Show notes

Intro music by Scott Holmes

Strength - How We View It, Define It and Move Through Life with Rare Disease and Chronic Illness with Marni Cartelli Sep 30, 2021

Show notes

ONCE UPON A GENE - EPISODE 102

Strength: How We View It, Define It and How It Changes As We Move Through Life With Rare Disease and Chronic Illness - Marni Cartelli

At a time in her life that everything felt out of control, Marni Cartelli took action. She is making changes for herself and our entire community, like the upcoming October 29th #Press4Hope Challenge.

EPISODE HIGHLIGHTS

How did you come into the world of rare disease and chronic illness?

I entered the rare disease community in 2015 when I had an accident at my job as an OR Scrub. My shoulder dislocated and the pain was more severe than it should have been, even after my shoulder was back in place. Over the next year, we searched for answers for why the pain was increasing and why my shoulder repeatedly dislocated. One day my arm went blue and cold and my doctor knew what it was- a rare condition called sympathetic dystrophy (RSD) or complex regional pain syndrome (CRPS).

What experiences left you feeling the most hopeless and defeated?

Soon after I finally had a diagnosis, I lost my job because of it. The other was through the course of fighting for treatments I needed, appeal after appeal. Going head first into advocacy was a wonderful way to connect to the rare disease community, but I did it without addressing the physical or mental challenges I was dealing with. When the pandemic hit and all my activities shut down which resulted in tremors, sweating, swelling, I couldn't dress and struggled to feed myself. I realized I never addressed my emotions, but buried them under things to do until I started on my journey of self-reflection that I never took the time to do after being diagnosed.

What led you to choose a course of self-reflection?

I was in a place to receive the message. Sometimes we hear things and we're not ready to hear them or take action, especially in the rare disease face. I realized I was done living my life in fear.

What is the #Press4Hope Challenge?

The #Press4Hope Challenge will be taking place on October 29th at TCBOOST Sports Performance in Chicago. It's a fundraising event for Uplifting Athletes where I will be lifting my max amount of weight as many times as possible in ten minutes with a goal of breaking Northwestern's record of 6,525 pounds. I want to press over 7,000 pounds for the more than 7,000 rare diseases identified in the community.

RESOURCES MENTIONED

ONCE UPON A GENE - Episode 095 - A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli

https://effieparks.com/podcast/episode-095-rare-collection-skin-in-the-game

Barby Ingle

http://barbyingle.com/

Uplifting Athletes

https://www.upliftingathletes.org/

TCBOOST Sports Performance

https://tcboost.com/

CONNECT WITH MARNI CARTELLI

Marni on Instagram

https://www.instagram.com/purrr_fectlyrare/

Marni on Twitter

https://twitter.com/Purrfectly_Rare

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

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Instagram

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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

Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special - Antidotes to the Obsessions that Come with a Child's Disability Sep 23, 2021

Show notes

ONCE UPON A GENE - EPISODE 101

Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special: Antidotes to the Obsessions that Come with a Child's Disability

Author Melanie Dimmit received her son's cerebral palsy (CP) diagnosis and she scoured the world for hope, stories, insight and companionship- desperate to know what she was up against and that everything was going to be okay. The result is her book, Special: Antidotes to the Obsessions that Come with a Child's Disability.

EPISODE HIGHLIGHTS

When you say not to feel ashamed of your feelings, what does that mean?

At the beginning, it's hard because you have thoughts and feelings that make you feel like a terrible person because most of us come to disability with no experience or knowledge. I thought my son having a cerebral palsy diagnosis was the worst thing that could ever happen to me or him and it felt like the end of the world. You think terrible things, you feel like you can't talk to anyone about how you're feeling, and you have layers and layers of guilt. Getting a diagnosis and learning that your child's life won't be how you imagined is a form of grief. All of this is normal. Give yourself time and don't beat yourself up as you process through the thoughts and feelings you initially have.

Were you good at processing your feelings and moving on?

I was good at being in denial and I didn't accept Arlo's disability for about six months. I began to see a psychologist who helped me to feel anger and sadness, to acknowledge how hard it is and that it's okay to feel how I feel. Professional help and connecting with other parents while writing my book helped me feel less alone.

What moments with Odie do you savor because of Arlo?

Everything. As she was growing up, it blew our minds how easily things came to her as we were working so hard with Arlo. Arlo is nonverbal, he doesn't roll, he doesn't sit and left to his own devices lies on the floor with a big smile on his face. He needs a lot of support, nothing comes easy and he's worked incredibly hard for head control, core strength and fine motor skills. There's a bitter-sweetness to Odie growing and hitting milestones, but having Arlo has made us more relaxed and better parents to Odie.

If you were asked to submit a story to your book today, what would it be?

Special is a gaping wound for me, though I'm glad it's there for parents just starting their journey. I feel entirely different now. The old me wouldn't want to hear the new me saying it's fine. I'd say to old me that I know I think people are pretending it's okay when it's not, and they're making the best of the scenario, but I promise that's not true. I promise you that you'll never wish this away. It's hard, unfair at times, times that Arlo is unwell and it's awful, but I wouldn't change any of it. Arlo is a phenomenal person, he's so much cooler than you can imagine. You are happier and more fulfilled than you ever would have been without Arlo.

RESOURCES MENTIONED

Special: Antidotes to the obsessions that come with a child's disability

https://www.amazon.com/Special-Antidotes-obsessions-childs-disability-ebook/dp/B07QPDQC27

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Stitcher

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Overcast

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Effisode - Road Trip to NAPA Center Sep 21, 2021

Show notes

Intro music by Scott Holmes

A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point Sep 16, 2021

Show notes

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.

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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/