Once Upon A Gene Effie Parks

ONCE UPON A GENE - EPISODE 229
Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to share about the collaboration.

EPISODE HIGHLIGHTS

What is a registry and why does a patient group need to have one?
A registry is a way to organize data as it relates to a particular disease. It's useful to bring the community together to learn where patients are in the world, aligning patients with clinical trials, and monitoring how a disease progresses over time. Sharing and publishing results collected in the registry also helps to bring awareness about the disease. 

What inspired the launch of a joint registry?
Our populations have an overlap in patients and we wanted to make it as easy as possible for patients and caregivers to participate in the registry. In addition to centralizing the registry overlap, we've made the process optimized for mobile, all in one place and as seamless as possible. 

What is the importance of participating in a registry and a natural history study?
Participating in a registry and natural history study are among the most important things you can do to contribute to the research of your disease. It doesn't cost anything but your time and there's no better way to get an accurate count of the patient population than through patient registries. This tool helps with having conversations with biotech companies and to prove that you're a commercially viable disease. 

What is next for the registry and what are your goals?
We still have a lot of work left to evangelize the registry and educate our community on the difference between a registry and natural history study, explaining how crucial they both are. The work we're doing with the registry combined with newborn screening advocacy and we won't be able to be ignored anymore. 

How can rare disease families start a registry?
There's a working group called Best Data Practices for Rare Disease Patient Foundations and Researchers on PHUSE with resources available on how to start a registry. The materials are easy to read and follow and they're available to everyone. 

LINKS AND RESOURCES MENTIONED
Global Genes Conference - Week in RARE
https://globalgenes.org/week-in-rare/
ONCE UPON A GENE - EPISODE 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
https://effieparks.com/podcast/episode-228-strength-in-unity
ONCE UPON A GENE - EPISODE 194 - A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
https://effieparks.com/podcast/episode-194-a-guide-for-rare-disease-patient-advocacy-groups
Patient registries: a practical guide for patient organizations
https://sophiazilber.gumroad.com/l/registries
Hope for PDCD Foundation
https://www.hopeforpdcd.org/
Cure Mito Foundation
https://www.curemito.org/
CoRDS
https://cords.sanfordresearch.org/account/login
Best Data Practices for Rare Disease Patient Foundations and Researchers
https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+Patient+Foundations+and+Researchers


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ONCE UPON A GENE - EPISODE 228
Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum

Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to discuss the critical role of unity among our rare disease patient advocacy organizations and why it's important to stick together. We'll also talk about the transformative potential of everycare initiative.

EPISODE HIGHLIGHTS

Why is it critical for rare disease advocacy organizations to strive for unity?
When there's splintering of fracturing among disease groups, there are less resources within each effort and there's a risk of duplicating efforts. There are also only so many experts to participate in a scientific advisory board and there may be competition for those experts among groups.

What is your best advice for organizations who may be experiencing competition or friction?
Friction happens because we care so much and we're driven to find treatments and solutions. When you want rapid solutions, it's important to recognize that the objectively best and fastest way to make an impact is working together collaboratively and consolidating resources.

What advice do you have for ultra-rare disease organizations that are worldwide and have a unique issue of centralizing patients and financial strength?
In the past I've seen this done well where existing organizations support new organizations starting in new regions of the world by sharing resources and materials and being a supportive partner. It's critical for disease organizations to work together on a global scale.

Can you tell us about Every Cure and how it aims to revolutionize treatments for rare diseases?
Every Cure is on a mission to unlock the full potential of every approved drug to treat every disease possible. When a drug is approved for one condition, there's often dozens of other diseases that the drug might be effective in. Every Cure was launched when learning that there was an incredible untapped opportunity to treat more diseases than approved drugs were originally intended for. There are also systemic barriers that prevent the untapped potential from being tapped into. I'm alive, along with thousands of other patients, because of drugs not intended for a disease that we re-purposed.


LINKS AND RESOURCES MENTIONED
Chasing My Cure: A Doctor's Race to Turn Hope into Action; A Memoir
https://chasingmycure.com/books/
Every Cure
https://everycure.org/
ONCE UPON A GENE - EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action
https://effieparks.com/podcast/episode-43-david-fajgenbaum
Share Your Drug Repurposing Insights
https://everycure.org/insights/


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ONCE UPON A GENE - EPISODE 226
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland

Jillian and Scott Copeland are husband and wife, advocates and pioneers who have transformed their personal journey of having a child diagnosed with epilepsy. They have taken off on a quest to create supportive and inclusive environments for kids with disabilities and founded a school, an inclusive living community and the Epilepsies Action Network. They're a force also shaping the policy landscape.

EPISODE HIGHLIGHTS

Can you first tell us about yourselves and your family?
Our journey started about 30 years ago and we've had four sons. Our third son, Nicol, is about to turn 25 years old and when he was 8 months old, he had a prolonged seizure for over two hours and it took us on a different parenting journey than we expected. Since then, we've raised our children together and explored opportunities and possibilities for Nicol, which took us down the path that brings us to today. Our journey with Nicol has given our family a lot of meaning and purpose and it's been an amazing journey.

Given that genetic testing hasn't revealed answers for what has caused his epilepsy, how have you managed to navigate the uncertainty and maintained such positivity and strength?
Nicol is the lead, the model and we follow his example. Nicol is a wonderful model and he shares a lot of love and joy. He will have a terrible seizure, have to be medicated, feel awful after and wake up the next day with joy. We've had to manage fear and worry, but we take on Nicol's "the sky's the limit" and "can-do" attitude. We don't have the power to control or change a lot, but we do have a choice in how we see it and how we live life. We're both controlling people, but we had to come to terms with what we couldn't control. We'll keep living to the fullest and sharing and feeling love the best we can.

Can you tell us about The Diener School?
When Nicol was six, he was attending a school that wasn't the best fit for him and we decided to start a school. We found great partners and professionals to help us and we started The Diener School in 2007. The school is a multi-sensory experiential approach with very talented educators, therapists and behavior specialists who work with the kids and with each other. There are elements of the connection of movement and learning, social thinking and other essential curricula and strategies needed for kids who don't learn traditionally and learn through the senses.

What is Main Street all about?
Main Street is a 70 unit building in Rockville, Maryland where 25% of the units are set aside for individuals with disabilities and 75% of the units are affordable, serving households at 60% or less of the area's median income. On the ground floor, there's a 10,000 square foot community space and it's an inclusive environment open to anybody through membership. It's a place for people to find their happy, to be a part of a community and feel like they belong.

What is the Epilepsies Action Network?
Epilepsies Action Network brings together a widespread community of epilepsies in one unified voice to lobby the federal government for funds for the epilepsies because it's an under-funded disease, and as a result, there haven't been a lot of treatment advances or breakthroughs.


LINKS AND RESOURCES MENTIONED
ONCE UPON A GENE - EPISODE 224 - The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
Epilepsies Action Network
https://www.epilepsiesactionnetwork.org/
Rare Epilepsy Network
https://www.rareepilepsynetwork.org/
The Diener School
https://thedienerschool.org/
Main Street
https://mainstreetconnect.org/

ONCE UPON A GENE - EPISODE 225
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief.

EPISODE HIGHLIGHTS

As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing?
It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned. 

What coping mechanisms help you to write and talk about your experience?
I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield. 

What would you say to the young person who is living the same life you were living and what questions should people ask that person?
The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy. 

What are the misconceptions people have about death?
The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it.

How has your relationship with your sister changed?
Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other. 

As a parent, how do you help siblings to have a better experience?
Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it.

LINKS & RESOURCES MENTIONED
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

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 224
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed

Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and treatment of so many rare diseases. 

EPISODE HIGHLIGHTS

What are ICD-10 codes?
In 1999, the ICD-10 code was developed by the World Health Organization and it was used to track mortality coding from death certificates. It was the way people were tracked when they died, but it also became the way people were diagnosed and treated for conditions. Today, they drive so much in clinical medicine. When you go to the doctor, they will input a code of the flu, strep throat, or whatever ailment you're affected by. In a practical sense, it is how the doctor bills insurance. 

How do misused ICD-10 codes affect our kids?
They are the bones of our healthcare system and it impacts rare disease because when we go to the doctor and describe our children's symptoms, we need a code to represent diseases so we can be recognized as a legitimate disease and population and so that patients can be tracked in our healthcare system. 

What does an organization need to know and what is the process for applying for an ICD-10 code?
There are two chances per year to obtain an ICD-10 code. You submit a formal application and if you're selected, you can present before a committee and then it'll be a year to be issued a code. The application is pretty straightforward, with a scientific component and a clinical component. With a medical board of advisors, it's not hard to complete the application and gather materials. 

How can we as a rare disease community fight to help make changes around ICD-10 code use and issuing. 
As a community, we need to get the Rare Disease Legislative Caucus involved, get the White House involved, talk to our senators and congressmen. We need to all apply for ICD-10 codes and get loud, tweet about it, talk about it, get noticed. 


LINKS AND RESOURCES MENTIONED
ICD-10 Code PAG Action Plan
Combined Brain
https://combinedbrain.org/
EveryLife
https://everylife.com/
NORD
https://rarediseases.org/
Global Genes
https://globalgenes.org/
SLC6A1 Connect
https://slc6a1connect.org/
Email Amber
afreed@SLC6A1Connect.org 


CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
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Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/