Once Upon A Gene

https://www.joinclubhouse.com/club/once-upon-a-gene

Optime Care

https://www.optimecare.com/

Donovan Quill Linkedin

https://www.linkedin.com/in/donovan-quill-428a9211

Rare Voices Podcast

https://www.optimecare.com/rare-voices/

Effisode - Ford Goes to Kindergarten Sep 07, 2021

Show notes

Intro music by Scott Holmes

Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein Sep 02, 2021

Show notes

ONCE UPON A GENE - EPISODE 098

Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein

Ethan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club.

EPISODE HIGHLIGHTS

What inspired your work as an entrepreneurial scientist at Perlara?

It started at a professional crossroads when my sister received a rare disease diagnosis and it opened my eyes to the rare disease world. With a new personal connection to rare disease, having heard from patient groups on Twitter and being a professional crossroad, Perlara was born.

Talk about the relaunch of Perlara 2.0.

Originally Perlara 1.0 set out to be the first biotech public benefit company (PBC) with a patient-centered model, finding families and foundations to be drug co-developers. Perlara 2.0 revolves around cure sherpas and guided cures. Guided cures is the process of finding medicines for ultra-rare disease with cure sherpas- scientists who devote time to a family or foundation on their rare disease journey. At Perlara, we are acting as a marketplace to match up cure sherpas with families and foundations that need a guided cure.

How can patient groups create a self-sustaining financial model?

Crypto technology is being applied in the world of financing and there's over a trillion dollars of value sitting in crypto assets, mostly bitcoin. This could be put to work through communities staking liquidity pools and putting crypto to work. Communities could also issue coins in stock as a way to fund raise. Small communities can find creative ways to bypass traditional funding gatekeepers and access potential market value and put it to work. Pioneers are needed to explore crypto enabled crowd-funding. Taxes and pharma profits are another way to raise funds.

Funding follows the plan, not the other way around. What do you mean by that?

With a focus on a deliverable, project, tangible goal- something to fundraise around with a crowd-funding campaign. It's great energy, but the challenge is when you've spent the funds and didn't get the desired outcome. The temptation in the beginning is to take any action, but energy should be thrown into more than one project and have a bigger plan so you can fundraise for contingencies and access additional funding partners.

Where should parents seek out resources to begin fundraising and building a plan?

Perlara, along with other organizations, offers resources to start. The first resource should be the scientist who has dedicated their career to the gene responsible for the rare disease. Identify who the scientists are in the beginning and make those connections.

RESOURCES MENTIONED

https://www.joinclubhouse.com/club/once-upon-a-gene

Gene Fixers Club

https://www.joinclubhouse.com/club/thegenefixers

Perlara

https://www.perlara.com/

Ethan Perlstein on Twitter

https://twitter.com/eperlste

CONNECT WITH EFFIE PARKS

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

https://www.joinclubhouse.com/club/once-upon-a-gene

A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos Aug 26, 2021

Show notes

ONCE UPON A GENE - EPISODE 097

A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos

Carole Bakhos' eight year old daughter Yara was diagnosed with Jordan's Syndrome five years ago. She shares how being Yara's mom has been an enabling journey of love, fear, joy and hope. Carol is the Project Manager for Jordan's Guardian Angels.

EPISODE HIGHLIGHTS

Can you tell us about your family?

We started on the rare disease journey when my daughter was two years old, diagnosed with a rare disease in the gene PPP2R5D, now known as Jordan's Syndrome. At the time, there were six children in the world who were known to have the disease, so we weren't given a lot of information. Our journey started as one of fear of the unknown and isolation. The diagnosis wasn't the end of our journey, but the start of a world of self-educating, learning and connecting. Now we have a global family that understand our experience.

How did meeting others help you take action and accept Yara's diagnosis?

You realize it's not just about your child, but it's much bigger than that and the impact becomes that much bigger, more powerful and rewarding.

Were you able to keep working or did you stay home to care for Yara full time?

The first three years, I tried to do it all— working and focusing on my career, meeting with Yara's therapists at lunch, coming home to work with Yara, staying up all night reading and researching, creating activities for her and obsessing over it all. I got used to this routine and one day I knew I had to stop. I took six months off to focus on Yara, getting research started, collecting data and organizing the group. It was a tough decision and I struggled with it. Fate was kind to me and I'm now able to channel my skill and passion into my work with Jordan's Guardian Angels, connect with other families and make a difference.

What are your tips for changing your perspective and mindset in these circumstances?

I remember a moment of sulking and I thought about Yara and realized I was letting a beautiful thing that came into my life be a source of pain. I didn't want her to bring me anything but joy. I decided to love and celebrate Yara and give her a chance to make me happy. While thinking of the future can sometimes feel overwhelming, I want to ensure I give Yara the opportunity to continue filling my heart with joy.

What work is Jordan's Guardian Angels doing?

Jordan's Guardian Angels was started by the Lang family after their daughter Jordan was diagnosed with what is now called Jordan's Syndrome. The foundation has put together a research team from ten institutions and we meet every other month to share updates on the work and treatments path. We were able to get a grant that launched our work forward and we continue to open doors and turn stones over. Jordan's Syndrome has now been connected to Epilepsy, Autism, Alzheimer's, Parkinson's and the work we're doing can potentially bring answers to all these sub groups too.

RESOURCES MENTIONED

https://www.joinclubhouse.com/club/once-upon-a-gene

Jordan's Guardian Angels

https://jordansguardianangels.org/

A Rare Reality: the JGA Podcast

https://jordansguardianangels.org/a-rare-reality/

CONNECT WITH EFFIE PARKS

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

https://www.joinclubhouse.com/club/once-upon-a-gene

Effisode - From the Sidelines Aug 24, 2021

Show notes

Intro music by Scott Holmes

Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short Aug 19, 2021

Show notes

ONCE UPON A GENE - EPISODE 096

Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short

Billie Short is the mom of a 20 year old daughter that has an undiagnosed rare disease. She shares what it's like to be a caregiver with chronic stress.

EPISODE HIGHLIGHTS

Share a bit about yourself and your daughter.

I've been caring for my adult daughter Emily for 20 years. She was a typical baby when she was born and I had an easy birth. At about three months old, I noticed she wasn't meeting milestones and we started testing. We've continued testing and determined she has some sort of genetic anomaly and we don't know what it is. Emily is non-verbal and non-ambulatory and has a lot of the same symptoms of Rett Syndrome.

How do you embrace not having a diagnosis?

I'm at peace right now. If Emily never got a diagnosis, I would be okay. She is physically healthy and she's outgrown a lot of issues and I'm grateful for that. Recently, I've become more curious to seek answers as testing has changed, but not having a diagnosis offers some comfort in ignorance because I'm present focused and not diagnosis focused.

How have you managed your stress as a caretaker?

The first 18 years, I was bitter and angry. In the last 2 years, I've learned to find the calm in the chaos and the zen in the zoo. It's been a mind change because this is our life and it's a beautiful life. I embrace the chaos and roll with it. My husband has depression which was brought on in part when Emily was born. When Emily was 18, he was able to get the resources he needed and we were able to break through that. So many parents don't take time to take care of their own health because they're focused on their children and when something forces you to face it, you have to re-evaluate everything.

How do you feel healthier as a caregiver?

I started out trying to lose weight I gained over the years and I learned a lot about self-care and caregiver burnout. I learned to focus on my physical and mental well-being so that I could continue caring for Emily in the future. I also shifted my thinking of caring for Emily as a gift, not a burden. Changing the way I thought about caring for Emily really changed things. I'm a caregiver of myself first and ensure I'm rested, eating well and getting help from my resources so that I can be a caregiver to my daughter with an open heart, not resentment.

How did you implement better self-care?

I started turning the tv off and going to bed earlier so I could get up earlier and journal. I have an accountability group, I plan meals and plan as much as I can with my superpower- pivot and adapt. I know my plans may get interrupted, but I will figure out how to block time out later for it so it still happens. Part of my self-care has also been listening to podcasts which is getting me connected and helps me feel like I have the bandwidth to support other moms.

RESOURCES MENTIONED

https://www.joinclubhouse.com/club/once-upon-a-gene

Conversation for Change

https://conversation4change.com/

CONNECT WITH EFFIE PARKS

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

https://www.joinclubhouse.com/club/once-upon-a-gene

A Rare Collection - Rare Disease Storytelling - Skin In the Game with Adam Johnson, Nathan Peck and Marni Cartelli Aug 12, 2021

Show notes

ONCE UPON A GENE - EPISODE 095

A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli

There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Adam Johnson, Nathan Peck and Marni Cartelli share stories of having skin in the game.

EPISODE HIGHLIGHTS

Adam Johnson, DadVocate

Adam made his way through the gates and into his field of dreams- Wrigley Field, home of the Chicago Cubs. He felt at home among forty thousand strangers, all his people coming together in one place, at one time for a common love and in support of a common hope. As the song "Take Me Out to the Ballgame" goes in Wrigleyville, fans root for the Cubs and if they don't win, it's a shame, but through dedication and persistence, Cub fans are still loyal fans through thick and thin. Adam shares that just as the Cubs have had bad days, he's too had bad days since he was diagnosed with a rare disease. Some days it seems he'll never win and some days the wins are among days of painful losses. The Cubs made it to the World Series in 2016 and won their first championship in 108 years. He holds on to hope that he'll step foot back in Wrigley Field with his children one day and that his rare disease will be cured. It's supposed to be hard. If it wasn't, everyone would do it. The hard is what makes it great. In spite of the losses, the victories along the way is what makes the hard great.

Nathan Peck, CureVCP

Nathan tells a story about being JV basketball in high school, having his front tooth broken off by another player. He was so angry that he threw the broken piece of tooth under the bleachers. But he got back in and finished out practice. Advocacy is about the skin in the game- having dedication, the want and desire to get it done together.

Marni Cartelli, CRPS Patient and Advocate

Marni credits football with saving her life. Marni was naturally loud as a child and her mom often said if she were the first born, she wouldn't have siblings. Her dad introduced her to football and she loved it. Marni and her husband share their love of football and have gone to an NFL game every year from the year they met until her rare disease symptoms onset. It's been six years since she's been able to carry on that tradition, four years since she tried to kill herself and three and a half years since her husband used her connection to football to help her back from the edge. Marni shares that her disease symptoms started and progressed very quickly. For months, she isolated herself, only seeing her specialists and husband. The disease progressed, leading to deeper depression. Marni's husband pushed to reconnect with her over football and it worked. Sundays eventually became less focused on the losses and treatment costs and all about dropped passes and crazy plays.

LINKS AND RESOURCES

Cure VCP Disease

https://www.curevcp.org/

DadVocate

https://rarediseasedad.com/about

Cure Mito Foundation

https://www.curemito.org/

Uplifting Athletes

https://www.upliftingathletes.org/

CONNECT WITH EFFIE PARKS

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

ONCE UPON A GENE - EPISODE 047 - Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

Effisode - Rare and Relatable - Rare Disease Stories on Clubhouse with Effie Parks and Bo Bigelow Aug 10, 2021

Show notes

Intro music by Scott Holmes

The 12 Commandments to guide you when you're starting a rare disease patient advocacy group - With Nasha Fitter and Mike Graglia Aug 05, 2021

Show notes

ONCE UPON A GENE - EPISODE 094

With The Mike and Nasha Part II

FOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure.

EPISODE HIGHLIGHTS

Where do you start?

The first thing to do is to build your team. If you've just been diagnosed and realized there isn't a patient group for your disease, build your team of other parents and recruit friends and family to help you. The next step is to build a scientific advisory board to go to for advice and guidance.

How do you make connections with parents and experts?

You'll have to do a lot with little knowledge or resources. As you build your team, encourage others to engage with their network and invite others to join the group. Strive to get roles filled for every category- clinician, geneticist, biotech and translational therapy.

How do you engage parents?

Repeat your message again and again and realize that getting to a cure isn't a race. Act as a lighthouse to get researchers, clinicians, diagnosed and un-diagnosed families to gather around a common goal. Use the tools within reach- podcasts, newsletters and social media as a digital lighthouse, sending signals out to the community. Get on every platform and engage patients.

What is a registry and how do you build one?

It's a legal entity that allows you to collect patient information and disease symptom data. The registry platform should be Institutional Review Board (IRB) approved, which means patients and caregivers have consented to information sharing so they can be counted as a patient and share their information with researchers. Once the registry platform is set up, use social media to explain the benefits and invite patients to join.

How do you develop a path to a cure?

Search for publications and contact the authors to discuss the research and inquire about developing a treatment. Understand the biology of the disease. If you don't have assets, think about the assets that mimic the core of the disease, making models of the disease for testing treatments and drugs and ensure finding are on open access. While you wait for biotech companies to test on your assets, you can create proof of concepts that make sense and are along your path to a cure.

How do you get the money you need?

It takes money and you'll need to raise money. You'll never know how much you can raise unless you ask. Invigorate the patient community to raise money and think big.

RESOURCES MENTIONED

https://effieparks.com/podcast/episode-47-ciitizen-nasha-fitter

What is FOXG1 Syndrome? https://foxg1research.org/foxg1syndrome

ONCE UPON A GENE - EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia

https://effieparks.com/podcast/episode-41-syngap-research-fund

SynGAP10 Podcast

https://www.syngapresearchfund.org/syngap10-podcast

PubMed

https://pubmed.ncbi.nlm.nih.gov/

Global Genes

https://globalgenes.org/

COMBINEDBrain

https://www.combinedbrain.org/

SLC6A1 Connect - Amber Freed

https://slc6a1connect.org/

CONNECT WITH EFFIE PARKS

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