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 - Grocery Store Answers Mar 22, 2022

Show notes

Intro music by Scott Holmes

A Rare Collection - Unexpected Findings Mar 17, 2022

Show notes

ONCE UPON A GENE - EPISODE 126

A Rare Collection - Unexpected Findings

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

Katheron Intson

Katheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected findings resulted in advances for GRIN1 patients. Her experience helped develop a skillset which helped in the development of an app that helps users discover what treatments are helpful according to other user's data. Variant's goal is to connect families with better medication and to be a liaison between pharma and rare disease patients by proving the benefit from the development of new medicines and cures.

Caitlin Nichols

Caitlin studied cancer biology in graduate school and investigated a potential strategy to treat cancer for her thesis. One of the challenges of chemotherapy is that it kills cancer cells, but also damages other tissue which leads to patient side effects. The ideal cancer treatment would target tumor cells specifically, leaving the rest of the body unaffected. Caitlin spent weeks preparing in the lab before testing an experiment. Despite ideal, expected data resulting from the experiment, there were some unexpected findings that came from her personal reflections.

Kim Aldinger

As a scientist, Kim appreciates unexpected results. As a parent of twins with special needs, unexpected findings have been devastating. Kim's twins were born early at 33 weeks and 3 days. Most premature babies have a lazy eye that can be easily treated. But when Kim's daughter was 8 months old, she underwent a series of tests that revealed her daughter was expected to be blind- an unexpected finding that changed her life.

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 Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd Mar 10, 2022

Show notes

ONCE UPON A GENE - EPISODE 125

A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd

Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she's joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure.

EPISODE HIGHLIGHTS

Can you tell us about Kasper?

Kasper is almost three years old and he has DeSanto-Shinawi syndrome. Kasper is most affected by hypotonia, he's non verbal, he has the dysmorphic facial features that are specific to the disease and developmental delays. Kasper had infantile spasms which aren't common for children with his syndrome, which makes him even more rare.

When did Kasper begin experiencing infantile spasms?

He was 9 months old when they started and we knew something wasn't right despite our pediatrician suggesting otherwise. We were able to record an episode and we sent it to the pediatrician who referred us to a neurologist. Following an EEG, he started anti-seizure medicine and the spasms went away within days.

What has the rare disease journey been like for you so far?

In the beginning, I became very exhausted due to a lack of sleep and being home all day with an unhappy baby. It was hard as a mom, not being able to solve the problem and knowing something wasn't right. I started feeling sad and crying all the time. Comparing experiences with my friends, I began wondering what I was doing wrong and thinking I wasn't made to be a mother. I can be gentler and more compassionate looking back now, but at the time it was very hard.

What has helped you have a sense of acceptance?

Getting the diagnosis helped because before it, I felt so lost. I was stuck thinking it must be me, I must be doing something wrong or I was to blame, so having answers helped me to rationalize that and free myself from blame.

What is your advice for parents who are feeling the symptoms of anxiety or depression and feel ashamed to speak out?

Don't hide it, find a friend or a support group to confide in. Talk to your doctor and seek out services. Just don't suffer in silence.

CONNECT WITH KATIE

Instagram @averyrareadventure

https://www.instagram.com/averyrareadventure/?hl=en

LINKS & RESOURCES MENTIONED

A Very Rare Adventure Website

https://averyrareadventure.com/

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

ONCE UPON A GENE - Episode 117 - A Rare Collection - New Beginnings

https://effieparks.com/podcast/episode-117-new-beginnings

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 - Moments Mar 08, 2022

Show notes

Intro music by Scott Holmes

Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere Mar 03, 2022

Show notes

ONCE UPON A GENE - EPISODE 124

Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere

Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b.

EPISODE HIGHLIGHTS

Tell us about Sophie's diagnosis and the foundation you started.

Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned 2 years old. We started Sophie's Hope Foundation a couple months after diagnosis with the intention of leveraging our network to raise money. CureGSD1b is a patient advocacy organization which was started to bring together doctors, patients, researchers and collaborators.

How do you balance fatherhood, marriage and business?

It's hard and there's no way around that. My wife Margot is an incredible teammate and best advocate for Sophie. Margot takes a lot of pressure off me and I try to do the same for her and the balance works despite it being a strain.

What has been a difficult experience on your journey to raise money and awareness for GSD1B?

Making the pivot to start CureGSD1b came with a realization that I was responsible for driving a research plan, building a GSD network, collecting data and making impactful decisions. I had to acknowledge my strengths and weaknesses and remind myself that I'm doing my best to make progress.

What is your fundraising strategy?

I don't enjoy fundraising, but the reason we're doing it is to cure my daughter and thousands of other kids. We do an annual golf tournament, which stabilizes us financially for the year. Having a lynchpin event is important because people will get burned out if you continually ask for money. The golf tournament will likely always be our flagship event and we can add other fundraising events throughout the year.

LINKS & RESOURCES MENTIONED

Once Upon a Gene TV

https://www.thedisordercollection.com/

Courageous Parents Network

https://courageousparentsnetwork.org/

Sophie’s Hope Foundation

https://sophieshopefoundation.org/

CureGSD1b

https://curegsd1b.org/

Support Margot in the 2022 Boston Marathon

https://www.givengain.com/cc/sophieshope2022bostonmarathon/

ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia

https://effieparks.com/podcast/episode-094-mike-and-nasha

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 - The Unicorns - Random Acts of Kindness in the Rare Community Feb 22, 2022

Show notes

Intro music by Scott Holmes

A Rare Collection - This Is Us Feb 17, 2022

Show notes

ONCE UPON A GENE - EPISODE 122

A Rare Collection - This is Us

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

Because of You

Heather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown as they've learned to trust God more deeply and to let others help. Heather has learned to let go of her lifelong pursuit of perfection and the need to achieve. She's a better mother because she can let go of unrealistic expectations of herself. She's learned to be kinder to herself and how to define success differently. Kate's family is more grateful, more patient, more loving and more accepting of others. They have become part of a community who enriches their lives, supports them, and shows them how to advocate.

Reality Check

One moment you're cruising around town with your seasonal cold brew from Starbucks, and the next, you're crying in the frozen food section of the grocery store. Katie shares that she feels this way everyday as a special needs parent to Mary Kate. After witnessing another mother shopping with her children, Katie's reality hit hard. Mary Kate may never be able to grocery shop, walk independently through a store, be able to grab stuff and place it in the cart, or be independent enough to have the experience of shopping for her own food. With support from fellow moms, Katie realized that Mary Kate is going to do what she wants, when she wants. She will continue to hit milestones, and Katie will be there to help every step of the way.

All of Us

Brittany shares a story about her family and friends rallying around in support when her son Luca was hospitalized. Through a subsequent diagnosis, Brittany and her family have met therapists, specialists and doctors who serve as an amazing team and their community continues to grow. Their "us" is more than their family, more than their close friends— it includes the medical staff, therapy team and the other rare parents on the journey with them.

Our Village

Sophia's village extends beyond her husband and five children. The whole family, the grandparents and the family's church community has rallied around Sophia's son Davis who has CTNNB1. Their family and those close to them are a village dedicated to Davis' success and to finding a cure. They share tears, they share laughs and they're all on this journey together.

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/

How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor Ali Feb 10, 2022

Show notes

ONCE UPON A GENE - EPISODE 121

How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor Ali

Sehreen Noor Ali is the Co-Founder of Sleuth, a website that compiles stories and information from rare disease parents. It's a smart technology designed to identify resources, solutions and cures— a growing group of parents working together. Sehreen is talking with me about trauma resulting from medical uncertainty.

EPISODE HIGHLIGHTS

Can you share the medical trauma you've experienced?

My youngest daughter was hospitalized for over two months after surgery and went into inpatient rehabilitation afterwards. Then she was hospitalized again for a second surgery before she could go home. I cultivated tools and resources upon learning my daughter was going to need surgery and they served me well. But after we got home and I started to fray at the edges, I realized I was traumatized by the experience.

What most contributed to how you're feeling?

I was not prepared. My daughter also lost her swallow function and is now completely g-tube fed, which wasn't supposed to happen. Reconciling that while trying to act normal has contributed to my trauma.

What advice do you have for caregivers?

The thing I believe in most is that the caregiving you're doing means something really meaningful to other parents on similar journeys. I hope Sleuth is a place people will consider sharing their story because we know how powerful and helpful it can be to share your story.

LINKS & RESOURCES MENTIONED

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

Sleuth Website

https://hellosleuth.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/

Effisode - Bathroom Floor Moments Feb 08, 2022

Show notes

Intro music by Scott Holmes

What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander Feb 03, 2022

Show notes

ONCE UPON A GENE - EPISODE 120

What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander

Kathryn Alexander joins me for a part two segment to further discuss her unique rare disease experience. Through newborn screening, her son Connor was diagnosed with Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is among the youngest to receive it. She highlights the fear, isolation and guilt she feels as she moves beyond treatment.

EPISODE HIGHLIGHTS

How did Connor's diagnosis and cure affect you emotionally?

While you think you'd be relieved and thrilled to have a treatment so you could go on about your life, that wasn't my experience. He's living pre-symptomatically and he's able to do things that other children with his condition can't do, which is amazing. His therapy could last his whole life, but it also potentially couldn't. There are so many unknowns that it leaves me a nervous wreck and I don't have a sense of relief. I feel scared, confused and extremely isolated because no one else is in the position that I am. I also feel a lot of guilt that Connor received treatment when so many other children haven't.

What advice do you have for parents who feel separated from the rare disease community?

I like to practice the four A's- acknowledgement, acceptance, action and assessment. I think you have to abandon your definition of acceptance and redefine it for yourself. For me, acceptance is understanding something is true, it happened and it exists. Taking action helps me to feel like I'm making a difference, which helps me grieve, process and feel like I'm part of something even though I don't have a community of people around me who share my experience. This has helped me to make connections and has helped me in general.

LINKS & RESOURCES MENTIONED

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

https://effieparks.com/podcast/episode-119-kathryn-alexander

ONCE UPON A GENE - Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D

https://effieparks.com/podcast/episode-090-rare-disease-dad-and-psychologist-al-freedman

EveryLife Foundation

https://everylifefoundation.org/

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7