Once Upon A Gene

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Rare Patient Voice Website

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Effisode - There's No Crying In Baseball Apr 04, 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

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

Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael Mar 30, 2023

Show notes

ONCE UPON A GENE - EPISODE 180

Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael

Wes Michael is the Founder of Rare Patient Voice, which connects families and caregivers of rare and non-rare diseases with opportunities to share their stories and their opinions with companies and researchers by participating in all types of studies— surveys, phone interviews, bulletin boards, focus groups, clinical trials, and more.

EPISODE HIGHLIGHTS

Can you tell our friends listening a little about what you do?

I started a company called Rare Patient Voice almost 10 years ago now. What we do is invite patients and caregivers to take part in studies, phone or Zoom interviews, online surveys, or online focus groups for our clients, who typically are working on behalf of the pharma companies, device companies or academics. They want to know what patients are thinking and patients are compensated for their participation, currently at a rate of $100 / hour. We go out to patient events, walks, conferences and fundraisers and invite them to join. When we get a request that matches their condition or disease category, we'll send them an email and we serve as the matchmaker.

What inspired you to start Rare Patient Voice?

My background was not in healthcare. I was involved in market research for Wheaties and Cheerios. But then I moved into the healthcare field 30 or so years ago, and I was very excited because companies there were just learning to talk to patients. They started advertising drugs directly to the patients on TV. We were contacted by a company that was in the rare disease space— they worked in hemophilia. They explained there were very few patients, but they were very important to them and they wanted to learn from them through surveys and interviews. We were asked to build a panel, so we went to the National Hemophilia Foundation, had a booth and table, we talked to people and asked if they were interested in sharing their opinions. A couple years later, we were approached by a different company that also worked in hemophilia and they also wanted to access the patient panel. It got me thinking about creating a group of people that could be invited to studies for numerous companies and include different conditions and diseases. Now we represent 750+ diseases.

Do you help guide patients and caregivers from the beginning to help them tell their story?

Our clients are the moderators and they'll prep people and make sure they're comfortable. To prepare for an interview, you just bring your opinions. You don't have to do any special studying or research. The key is to be honest because you don't have to impress anybody. They just want to know the truth.

How can listeners sign up?

People can sign up on the website by providing specific information which is kept confidential. They'll get a double opt-in email and it's as simple as that.

LINKS & RESOURCES MENTIONED

https://rarepatientvoice.com/

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CONNECT WITH EFFIE PARKS

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https://take-part.org/warrior/

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Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados Mar 23, 2023

Show notes

ONCE UPON A GENE - EPISODE 179

Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados

Matt and Maria Granados are the parents of 4-year-old Natalie, who suffers from a rare form of muscular dystrophy called PYROXD-1. They are the founders of the Take Part Foundation which helps to fund research for rare pediatric conditions.

EPISODE HIGHLIGHTS

Can you tell us a little bit about yourselves and your family?

We are a family of four, almost five, with one on the way. Natalie is our oldest daughter and she has a very rare form of muscular dystrophy that is labeled by the gene called PYROXD-1. She has a little brother named Ziggy who just turned four. And I am pregnant with the next little brother. Matt and I have been married for almost eight years. We are entrepreneurs at heart, so we have owned our own businesses for quite some time. We started a foundation for our daughter when we found there wasn't much known about her condition, and we wanted to know more and do all we could.

Can you tell us a little bit about PYROXD-1?

To describe Natalie's condition, gravity is her worst enemy. She has complete movement, but can't stand, can't sit herself up and can't roll herself over. Nat's condition as a whole is a genetic mutation that's causing her muscles not to act the way they should. Very little is known about the PYROXD-1 gene, so much of the research our foundation funds is for Nat's gene. We're also focused on providing more genetic testing for people who can't afford it.

What was the initial funding focus and the first step you took that inspired the foundation?

When we were given the dollar amount that they needed, we knew we could help raise the money. When you're a parent of a child with a rare condition, you're hyper-focused on just their condition, so we never considered so many other people affected by rare disorders. When we realized that rare wasn't all that rare, we started thinking about how we could help more people. When we started Take Part, we also started Warrior Page to help parents tell their story no matter their technical background. We can't fund every single rare condition, but Warrior Pages can help every parent and it's completely free on our website.

What do families do and how do they take advantage of Take Part as a resource?

Our mission is to take existing medical research that's in infant stages, aimed at rare pediatric diseases, and we help fund it until it gets to the point where other major funding organizations can get involved. A huge part of what we do is to provide resources for families and parents to tell their story. We came up with these three ways that people can take part. If you're listening to this and you have a kid with a rare condition, go to our website and create a Warrior Page. If you don't have a rare condition, but know someone who does, share this resource with that family.

LINKS & RESOURCES MENTIONED

Take Part Foundation

https://take-part.org/

Warrior Page

Life Date Guide(use code ONCEUPONAGENE)

https://www.lifepulseinc.com/personal-resources/lifedate/

Life Pulse Planner(use code WARRIORFAM)*

https://www.lifepulseinc.com/personal-resources/the-executive-lp-planner/

*Email Matt@LifePulseinc.com with the subject ONCE UPON A GENE for planner tips

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

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Stitcher

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Overcast

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CONNECT WITH EFFIE PARKS

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

https://theewefoundation.org/about/

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Effisode - Wheelchairs and Walls Mar 21, 2023

Show notes

Intro music by Scott Holmes

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/

A Rare Collection - Exhausted and Energized Mar 16, 2023

Show notes

ONCE UPON A GENE - EPISODE 178

A Rare Collection - Exhausted and Energized

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

Annie Kennedy, Rare disease advocate with the EveryLife Foundation

I have a quote in my office that says "she took her power back without permission". As I stood in the back of the legislative conference during Rare Disease Week, the opening speaker asked a room full of more than 600 advocates to, by a show of hands, show who was in Washington for the very first time for Rare Disease Week to advocate on Capitol Hill. I realized that more than 50% of the room was raising their hands and I immediately thought of that quote. More than 50% of that room was taking their power back for the very first time. That was exhilarating. There were many other exhilarating moments throughout the week. While the week was absolutely exhausting, full of meetings, documentary screenings and conferences, it was exhilarating. More than 600 advocates traveled and came together for an exhilarating week during Rare Disease Week, advocated together and shared stories. We took our power back and changed the rare disease landscape forever.

Sarita Edwards, Rare mama and co-founder of The E.WE Foundation

Our son, Elijah, was diagnosed in utero with the rare disease Edwards Syndrome, or Trisomy 18. Events like Rare Disease Week are important to me because it's an opportunity to raise awareness about Elijah's diagnosis and champion legislation we believe can help families like ours. Several weeks ago, I celebrated Rare Disease Week, alongside 600 rare disease advocates and 300 patient organizations in Washington, DC. To say I was energized is an understatement. The days were long and full of content and conversations, and though I was energized, I was also exhausted. I was exhausted watching advocates push themselves to limits on behalf of the rare community. It was exhausting walking from building to building, speaking with legislators who are in charge of the decisions that affect our day-to-day lives. I was exhausted thinking about how much we believe all of this makes a difference, and hopeful it actually does. Exhaustion is the evidence of my energy being used properly. I was exhausted, but I'm energized and I'm just getting started as a rare disease advocate.

Abbey Hauser, Ehlers-Danlos patient and Rare Disease Advocate and Board Member with Team Telomere

There were two versions of me that existed in Washington, DC last week. There was the excited, engaged, educated and enthusiastic patient advocate. There was also the rare disease patient who laid alone on their hotel room floor at the end of each night, taking extra pain medications, hoping that the next day would go better for their body. Both versions are equal and valid to my story, yet most people only see the excited and engaged advocate that I am. I know the quiet moments that I laid on my hotel room floor are part of what makes me such a powerful patient advocate. I left Washington, DC exhausted beyond words and my body was pushed to its limits. Being a patient is hard, but being energized is worth the exhaustion.

LINKS & RESOURCES MENTIONED

The E.WE Foundation

Team Telomere

https://teamtelomere.org/

EveryLife Foundation

https://everylifefoundation.org/

CONNECT WITH EFFIE PARKS

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

ONCE UPON A GENE - Episode 139 - Remember Who You Are

Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom Mar 09, 2023

Show notes

ONCE UPON A GENE - EPISODE 177

Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom

Alyssa Poskarbiewicz is a mom to a daughter Lenny, who has CHARGE syndrome. I actually got to meet her in person last spring and she's beautiful inside and out. I think you'll enjoy our conversation, but also go on to listen to all the past Once Upon a Gene episodes, especially the once-monthly storytelling episodes, which Alyssa has contributed to.

EPISODE HIGHLIGHTS

What are your concerns and how do you decide what to share about Lenny online?

It's personal for everybody. There are times that I feel a need to share personally and times when I pull back. Interestingly, people will often reach out when I'm not sharing to make sure everything is okay. I wasn't someone to share personal things before, but I needed a different level of support and this journey looked different than it did when I had my first child. I didn't have friends with children in the NICU or born with serious medical concerns. I didn't know anyone with a personal experience with a rare genetic disease. I used social media to seek out resources, podcasts and communities, which has been helpful to me and allowed me to open up more.

How do you move through situations or moments when people make comments that bother you?

This is a practice and it takes time to get here. I started trauma and processing therapy last fall and I've found it to be tremendously helpful because I was very easily triggered by hurtful comments before. I have made a lot of progress in letting comments slide, but I'm still working towards this practice that really depends on whether or not I'm in a good place and how my daughter is doing at the time. Sometimes I can brush things off and sometimes things strike me and I need to vent and talk through my feelings.

Can you talk more about the type of trauma therapy you do and what you've taken away from it?

When we were in the NICU, we were assigned a therapist and I first connected with her. She would come in casually to talk through the diagnosis and things coming up in the hospital. She would also come in to talk with us at subsequent hospital stays. She recommended trauma therapy to me, so I found a therapist. We started with EMDR- reprocessing because I was experiencing a lot of PTSD. We did several sessions of EMDR, which I found to be helpful. Then we moved on to general processing, talking through things, processing emotions and moving forward.

LINKS & RESOURCES MENTIONED

https://effieparks.com/podcast/139-remember-who-you-are

Courageous Parents Network

https://courageousparentsnetwork.org/

Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life

https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490

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

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