Intro Music:

Title: Storybook

Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 203

These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio

Rare disease parents, Kim Gilsdorf and Daniel DeFabio, join me for a deeply emotional and thought-provoking conversation about grief. They both lost their sons, both named Lucas and they've shared much of the same rare disease journey with countless moments of emotions, challenges and unexpected moments of strength. We'll discuss their grief, exploring how they've managed to hold onto anger and tenderness simultaneously. We'll also talk about the complexities of supporting those who are grieving and how the term "ritualized chronic compassion" plays a role in their healing. 

EPISODE HIGHLIGHTS

When it comes to the death of a child, how can contradictory feelings co-exist post-death?

Positive feelings and negative feelings take turns, one giving way to another. Being a parent after you've lost a child is both beauty and terror. The hardest part is accepting where you are. There's a sense of relief no longer having the burden of care-giving, but that comes with a feeling of betraying your child because the price you paid for not doing the work is not having your child anymore, which is an unbearable price to pay. 

In the context of grief and parents who have lost a child, how have you navigated and managed your anger and held onto tenderness?

Anger is looked at as a negative emotion we shouldn't have, but the feeling is just like any other feeling and is sometimes a necessary, healthy response. Considering the purpose of each emotion, acknowledge and make space for it, followed by the work of each. Tenderness helps me to listen intentionally where anger acts as an energy. You can't just be angry or stay in a state of anger, but anger can fuel advocacy and drive your actions for good. While it's tempting to place blame, it helps to resist taking anger into blame, acknowledging that sometimes there's not a reason for things happening and there's no one or nothing to blame. Safety is an illusion and the absence of safety, we can be so angry, but what we can give our children and ourselves is tenderness. It's a great paradox, being in the face of injustice, having the response of being tender and angry. 

What do you want to leave grieving parents with?

Grief starts for many on diagnosis day and ritualized chronic compassion can start then, even if death isn't on the horizon. Sadness isn't scary when you stay present in grief, because when you make time for it, with sadness comes love. 

LINKS AND RESOURCES MENTIONED

Grief

https://grief.com/

Healing through the Dark Emotions: The Wisdom of Grief, Fear, and Despair

https://www.amazon.com/Healing-Through-Dark-Emotions-Despair/dp/1590301013

We Need to Ritualize Chronic Compassion - August 26, 2023

https://www.rarediseasefilmfestival.com/blog

Kimberly Gilsdorf on CPN

https://courageousparentsnetwork.org/blog/author/kimberly-gilsdorf/

Daniel DeFabio on CPN

https://courageousparentsnetwork.org/blog/author/daniel-defabio/

The Disorder Channel

https://www.thedisordercollection.com/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH KATIE

Facebook

https://www.facebook.com/childlifeoncall

Instagram

https://www.instagram.com/childlifeoncall/

TikTok

https://www.tiktok.com/@childlifeoncall

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 - EPISODE 202

Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor

Katie Taylor is a child life specialist and Founder of Child Life On Call, who is working to close the resource gap through the intersection of child life services and technology. Her mission is to educate, empower and bring rare disease families the support they never knew they needed. We're talking about how to harness the power and magic of your child life specialist's expertise and about the immense value they can bring to your rare disease journey.

EPISODE HIGHLIGHTS

What is a child life specialist?

We are psychosocial care and child development experts who work in healthcare and our job is to look at the whole family system with a child development lens and determine how we can best support families, equip them with tools and coping skills and make them feel like confident advocates in challenging situations. 

What inspired the inception of Child Life On Call?

I was a child life specialist working at a small hospital with little resources for connecting parents. I first started the podcast to serve as a tool to connect parents and a platform for parents to share their experience and resources. With more apparent gaps, I knew I had to continue striving to fill it.

What do child life specialists do in a hospital and what gaps exist?

Typically we're procedure or diagnosis based and we're there to help prepare and support children and families during diagnosis and equip them with the education, tools and resources necessary in those situations. We also have non-clinical responsibilities such as training other staff and teaching child development and how to serve families. We also sit on pain management and bereavement committees and weigh in with a family-centered focus. Unfortunately, there are more families in need of support than there are child life specialists and there are multiple demands of our jobs, clinical and non-clinical. Through Child Life On Call, I'm trying to ensure families come to the hospital and have access to the Child Life On Call App and they can easily access resources they may need. 

What are your future goals for Child Life On Call?

It's not health equity when one family gets a child life specialist and another family doesn't. We are working to sell the app to hospitals, which doesn't replace child life specialists, but it gives parents the resources they need. We're currently in one hospital and we'll be in three by the end of the year.

LINKS AND RESOURCES MENTIONED

Child Life on Call

https://childlifeoncall.com/

Child Life On Call Podcast

https://childlifeoncall.com/podcast/

My Mejo App

https://app.mymejo.com/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH KATIE

Facebook

https://www.facebook.com/childlifeoncall

Instagram

https://www.instagram.com/childlifeoncall/

TikTok

https://www.tiktok.com/@childlifeoncall

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 - EPISODE 201

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

EPISODE HIGHLIGHTS

Melissa Hioco, STXBP1

DO:

DON’T:

Trish Flanagan, HNRNPH2

DO:

DON’T:

Amy Fenton Parker, BDSRA 

DO:

Kara Kilroy, JdVS

DO:

DON’T:

Ashley Point, KdVS

DO:

LINKS AND RESOURCES MENTIONED

STXBP1

HNRNPH2

BDSRA

JdVS

KdVS

ONCE UPON A GENE - EPISODE 200 - Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

  https://www.syngapresearchfund.org/cannonball

  https://www.youtube.com/c/ufdtech 

Music credits:

Title: Storybook

Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 200

Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

Lindsay Stevens is a CTNNB1 mom and a skilled fundraiser who has harnessed her passion and expertise to rally support for CTNNB1 research initiatives. She joins me for a discussion about the art of fundraising and how the smallest efforts can spark profound change.

EPISODE HIGHLIGHTS

Can you share about yourself and your family?

I'm a mom of three children, two typical children and my youngest who was diagnosed with CTNNB1 at about two and a half years old. In my work life, I work for a nonprofit and I'm well-versed in all things fundraising.

Why is fundraising crucial for advancing medical research and why is it important for families to get involved?

It's up to us as parents to make a grassroots movement and if we're going to approach researchers to find treatments for our kids, they need the financial support to do that.

What can parents do to contribute to fundraising goals and maximize contributions?

Think about what your skills are and how you can contribute and make a change— writing letters to people you know, advocating, coordinating fundraising events, or something else. Parents need to think about who they know in their personal network where fundraising can come from. If someone is making a gift, it's possible that the company they work for will match the gift. Grandparents want to help and if they're at the age that they need to take disbursements from their IRA's, they can gift it to a nonprofit and avoid tax penalties. Parents can write a letter outlining fundraising goals and make an appeal to people they are sending holiday cards to. Communicate within your network at different milestones throughout the year like at the end of the school year or when the school year resumes, provide updates about your child and ask for a contribution. If someone makes a gift, take the time to write a hand-written thank you note, because acknowledging a gift is just as important as asking for one.

LINKS & RESOURCES MENTIONED

Dante Labs

https://us.dantelabs.com/

Email Lindsay

[email protected]

CTNNB1 Connect and Cure Podcast

https://www.curectnnb1.org/podcast/

TUNE INTO THE ONCE UPON A GENE PODCAST

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Stitcher

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Overcast

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CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene

Instagram

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Built Ford Tough Facebook Group

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Interested in advertising on Once Upon a Gene? Email advertisi

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ONCE UPON A GENE - EPISODE 199

Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network

Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families. 

EPISODE HIGHLIGHTS

How do parents approach planning for their children's future when things feel so uncertain?

If you don't have the capacity to think about it, the first thing to do is to figure out what you can do to create space and capacity. Triage anything that's causing a lot of stress so you can move from caregiver mode to parent mode. 

What's the importance of planning when you have a child with disabilities or rare disease?

The importance is that if a child is on any type of state or federal benefit, we want to ensure they keep those benefits. When they turn 18, they're legally an adult and they can only have a certain amount of assets in their name. There's only a couple places we can put money to help them save and not have funds count against their asset limits. It's important to also be able to supplement financial care when you're no longer around. The importance is keeping your child benefit-eligible and to ensure your child is cared for. 

What is your advice for parents who don't have the financial resources to save for their child's future?

Apply for state benefits and leverage those resources to find funds. Think about other resources such as family members who can contribute. Examine how your family is spending money  and reflect on your personal spending habits to see if there's somewhere to save.  

How can families advocate for change around policy and providing better care for our kids?

If you're up for the fight, you have the time, and you have the capacity, think about what you want to achieve, be clear in your ask and be prepared to follow up. If you're considering taking something on, ask yourself if the project benefits from your special skill or expertise, if it serves the community you represent, and what / who you want to be held accountable to. 

LINKS & RESOURCES MENTIONED

Dante Labs

https://us.dantelabs.com/

Special Abilities Network

https://specialabilitiesnetwork.com/

TSC Alliance

https://www.tscalliance.org/

State Disability Resource Guides

https://truenorthdisabilityplanning.com/idd-roadmaps

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

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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/

Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Music Credits:

Title: Storybook

Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music

Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 198

Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody

Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shines. 

EPISODE HIGHLIGHTS

Can you share about your connection to the rare disease world?

Our journey in the rare disease world started about 18 years ago with the birth of our third daughter, Valerie Marie. At three months old, she started having seizures and she was quickly diagnosed with RING14 Chromosome. We had the opportunity to attend an international family conference and it set us on a path to what it was like to be part of the rare disease community. I was inspired by the research and the idea that I could contribute to the community. 

Can you tell us about Valerie Marie and why you're so intentional about differentiating between Valerie and Marie separately?

My daughter's full name is Valerie Marie. My family refers to my daughter as Marie. Doctors always referred to her as Valerie. In time, it personified different aspects of my daughter where Marie was my daughter and her personality, her likes and dislikes. Valerie took on the more clinical presentation of her symptoms. If someone called my daughter Valerie, I knew they knew her in a medical sense and I had to create value around her by informing them who she was as a person. 

What is your advice for families who want to share their stories effectively with a balance of objectivity and emotion?

Whether it's at an IEP meeting at your child's school, a fundraising talk, or a speech at a large conference, it's best to start in the emotional realm with a hook that draws people in. Start with a personal story that invites the audience into your world in a personal way. Transition into a more scripted conversation guided by organized thoughts, clear ideas and a clear ask. It helps to have a clear outline in advance and know what you want out of it. 

Can you share why you donated Valerie's brain to research and what the potential impact is on the rare disease community?

At a research workshop, several experts emphasized the importance of brain donation in the event of a tragedy. There are so many critical questions with RING Chromosomes that might be answered from Valerie's brain donation. As a leader of the foundation with a heart for research, we chose to honor her life and continue her legacy in a way that could impact the community and inform research strategies. 

LINKS & RESOURCES MENTIONED

Dante Labs

https://us.dantelabs.com/

RING14 USA

https://ring14usa.com/

https://www.autismbrainnet.org/overview/

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

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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/

Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 197

Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy

Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad. 

EPISODE HIGHLIGHTS

Can you tell us about your journey as a rare disease dad?

My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests. 

What was the motivation for starting the My Mejo platform?

During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country. 

How does the My Mejo platform work?

My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use.

Exciting News! We've partnered with Dante Labs, the global leader in genomics, for a series of podcast episodes on "Once upon a gene". Discover their Rare Disease Health Package offering comprehensive Whole Genome Sequencing for rare disease patients. Uncover the mysteries of your genetic makeup and find potential treatment options. Learn more at us.dantelabs.com #Genomics #RareDiseaseHealth #DanteLabs #OnceUponAGene"

LINKS & RESOURCES MENTIONED

Mejo

https://www.mymejo.com/

Global Genes 2023 RARE Advocacy Summit

https://globalgenes.org/event/rare-advocacy-summit/

Costello Syndrome Family Network 

https://costellosyndromeusa.org/

Dante Labs

https://us.dantelabs.com/

International Rett Syndrome Foundation

https://www.rettsyndrome.org/

My Rett Ally

https://myrettally.mymejo.com/

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

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Apple Podcasts

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Stitcher

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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/

Interested in advertising on Once Upon a Gene? Email [email protected] for more information!