Once Upon A Gene

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Built Ford Tough Facebook Group

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Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman Nov 02, 2023

Show notes

ONCE UPON A GENE - EPISODE 205

Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

Jennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network and joins us to share her approachable strategies for engaging with friends and acquaintances as a rare parent or caregiver.

EPISODE HIGHLIGHTS

What is the supermarket answer and what is the origin of it?

The questions we get out at the supermarket are often simple and common— like "How are you?", "How is your child?", "How can I help?" or "Do you want to grab dinner?". I would get a barrage of questions and comments from people I bumped into at the store and I would have to think each time how I would answer. It felt complicated and I created a strategy to help, called the supermarket answer. It's a mental list that I would go through in my head to determine if someone wanted and could handle the truth, or if they just wanted the supermarket answer. We live a life others find difficult to connect with and it makes us feel disconnected to give the supermarket response and state that everything is great when it's not. I found that because I became comfortable in the process of evaluating what someone was looking for in their question and, more importantly, comfortable with determining what I needed in that moment, I started asking people what answer they were looking for.

What is the strategy checklist?

Ask yourself: What am I up for emotionally? What is the other person up for emotionally? What truth do you feel like telling in that moment? Do you need to share a trial or triumph?

Are there situations where you feel more inclined to answer an honest and thorough answer over a supermarket answer?

If I go to a party where there are few people that would relate to my life, I often feel myself aligned with sharing only the supermarket answer. On the other hand, I find that I almost never give the supermarket answer when I'm within my disease organization or with other parents that understand me and they're able to receive my emotional baggage the same way I can receive theirs.

What is your advice for parents who are struggling to share their story?

It's your story to tell however you want to tell it and it will evolve over time. Owning it and knowing you can tell little truths or big truths, depending on the day, can be very empowering and make answering those uncomfortable questions more comfortable. Understanding your own capacity to hold your vulnerability will help you embrace your story and know when it's the right moment to let big truths out.

LINKS AND RESOURCES MENTIONED

ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

https://effieparks.com/podcast/episode-114-noah-siedman

ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

https://effieparks.com/podcast/episode-109-what-i-know-for-sure

ONCE UPON A GENE - Episode 100 - A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

https://effieparks.com/podcast/episode-100-rare-collection-because-of-you

Courageous Parents Network

https://courageousparentsnetwork.org/

Dante Labs

https://us.dantelabs.com/

CONNECT WITH JENNIFER

Email jennifer@courageosparentsnetwork.org

jennifer@courageosparentsnetwork.org

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/

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong Oct 26, 2023

Show notes

ONCE UPON A GENE - EPISODE 204

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong

When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn’t accept “there’s no hope and little help” as an answer. Pat immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but she continues to fight—in their honor and for all families affected by Duchenne.

EPISODE HIGHLIGHTS

How and when did you realize something was wrong?

While other children played energetically, her sons would engage in quieter activities like coloring. Initially, she believed she simply had well-mannered children. However, she soon realized that her children were hesitant to engage in certain physical activities, such as running. While other children played energetically, her sons would engage in quieter activities like coloring. Initially, she believed she simply had well-mannered children. However, she soon realized that her children were hesitant to engage in certain physical activities, such as running up and down stairs or jumping. Concerned, she sought advice from various individuals, including her physician husband and his colleagues. Despite her genuine worries, many dismissed her concerns, labeling her as an overly anxious mother. This dismissal set her on a path of determination to find out more about her children's condition

How did you begin?

The beginning of her journey was marked by a mix of determination and desperation. Shortly after receiving a diagnosis about her children, she took a bold step by borrowing $100,000 from the bank. In her mind, she believed this amount would be sufficient to find a cure for them. The figure, substantial for its time, might seem naive to professionals in the biopharma industry today. Eager to find solutions, she reached out to various laboratories that had limited data on the condition. However, when she introduced herself as a mother with two boys diagnosed with Duchenne, she was often turned away.

The birth of a gene therapy

Today, DMD patients have been given new hope. The U.S. Food and Drug Administration (FDA) has approved Elevidys, the first gene therapy for DMD, for patients with the disease between the ages of 4 and 5 years old. This newly approved gene therapy delivers a copy of a gene that encodes a shortened, functional form of dystrophin, the gene that is mutated in DMD patients. Dystrophin is like a shock absorber for muscles, and without it, muscle deteriorates.

What can others do to further rare disease research?

For those seeking to advocate for a cause, a key strategy is to actively engage with congressional representatives, whether in the United States or elsewhere. It's advisable to frequently contact the offices of Senators or Congress people, introducing oneself and expressing what is important to them. This shouldn't be a one-time conversation but rather a consistent dialogue, akin to building a relationship.

LINKS AND RESOURCES MENTIONED

Parent Project Muscular Dystrophy

https://www.parentprojectmd.org/

PPMD's Decode Duchenne Genetic Testing Program

https://www.parentprojectmd.org/about-duchenne/decode-duchenne/

CONNECT WITH EFFIE PARKS

https://www.instagram.com/onceuponagene.podcast/?hl=en

LinkedIn

https://www.linkedin.com/in/effie-parks-741013164/

Effisode - The Irony of it All Oct 24, 2023

Show notes

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/

These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio Oct 19, 2023

Show notes

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/

https://www.facebook.com/childlifeoncall

CONNECT WITH KATIE

Facebook

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

TikTok

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

CONNECT WITH EFFIE PARKS

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor Oct 12, 2023

Show notes

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/

https://www.facebook.com/childlifeoncall

CONNECT WITH KATIE

Facebook

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

TikTok

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

CONNECT WITH EFFIE PARKS

https://www.instagram.com/onceuponagene.podcast/?hl=en

Built Ford Tough Facebook Group

https://www.facebook.com/groups/1877643259173346/

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments Oct 05, 2023

Show notes

ONCE UPON A GENE - EPISODE 201

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

EPISODE HIGHLIGHTS

Melissa Hioco, STXBP1

DO:

Offer a family hospitality room where parents can see the broadcast and stay involved in the conference.
Provide sibling spaces and make them feel special.
Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food.
Ask for discounts on everything.
Find a local AV company who will work within your budget.
Create sponsorship tiers and ask for sponsorship.
Provided one-on-one genetic counseling to families at no cost.
Provide social opportunities for families to connect with researchers.
Utilize an event center with a hotel for accessibility.
Research if a city or state has incentives available when holding events there.

DON’T:

Offer childcare because it's a liability.
Provide a plated dinner because it's logistically complex.
Accept the initial quote you're provided without trying to negotiate costs.
Use the hotel's AV company because the cost will be higher.

Trish Flanagan, HNRNPH2

DO:

Invite not just impacted families to your event, but also the researchers carrying out studies about your rare disease.
Poll your community about event location, dates that work best, and discussion topics.
Provide speakers with plenty of notice when inviting them to a conference.
Make sure your event space adequately supports the patient and families' needs.
Be transparent about the cost, inclusions and exclusions of the event.

DON’T:

Don't leave the research team to organize and schedule patient assessments without your input.
Don't overlook having an interpreter and special equipment that may be needed.

Amy Fenton Parker, BDSRA

DO:

If your budget allows, utilize a professional conference planning team.
Include a family reunion reception or party so families can reconnect.
Schedule separate break-out sessions for moms, dads, siblings, and other caregivers.
Use a technology provider who will make suggestions for the best outcomes and to make your conference dynamic.
Explore pre-recorded sessions and livestreams.
Offer a breakfast buffet so guests start their day off right.
Provide trained professionals for childcare and make parents aware of the offering.
Take advantage of area professionals who can offer services at the conference.
Create a planning committee to brainstorm ideas and help on the day of the event.
Utilize your board to assist with speakers

Kara Kilroy, JdVS

DO:

Make space for families to connect and share.
Manage volunteers well, meeting with them in advance to communicate plans and coordination.
Spend money on AV to ensure you have the right set-up in-person and also capture recordings and/or livestreams.
Sit with families and take everything in, enjoying the moment and appreciating all your hard work.
Have a planning committee.

DON’T:

Don't expect perfection and be ready to roll with changes and pivot.
If you provide childcare, ensure you have options for different age groups and different needs so parents get the most out of their attendance.

Ashley Point, KdVS

DO:

Recruit volunteers.
Find a host family in the local area to accept shipments, recommend local services and companies and connect you with volunteers.
Work with an event site company who understands your needs and who can negotiate costs on your behalf.
Fundraise, fundraise, fundraise. Ask, ask, ask.
Set a budget early, but stay flexible.
Set a rough agenda based on what's important to your community.
Be sure to allow for time for families to gather together and add breaks during the event.

LINKS AND RESOURCES MENTIONED

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

Effisode - 2023 SynGAP Cannonball for a Cure Oct 03, 2023

Show notes

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/

Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens Sep 28, 2023

Show notes

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

lindsayannstevens@gmail.com

CTNNB1 Connect and Cure Podcast

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

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

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Built Ford Tough Facebook Group

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Navigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network Sep 21, 2023

Show notes

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