ONCE UPON A GENE - EPISODE 154

A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis

Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their programs. Learn more by visiting Terry's website, cureSPG50.org or by connecting with him on social media.

EPISODE HIGHLIGHTS

Can you share a little bit about Michael's diagnosis?

Michael was born healthy, but wasn't hitting milestones like my other children. We learned through testing that he had a disease called Spastic Paraplegia Type 50 (SPG50). Shortly after the diagnosis, we began researching and reading articles, we flew to meet with experts in gene therapy and signed a contract a month later to start a gene therapy program which kicked off our journey.

Is there a point where it's too late for gene therapy?

I don't think it's ever too late for gene therapy. My perspective is that if children can get it from 1-6 months old, gene therapy can be a cure. After that, gene therapy becomes less of a cure and more of a treatment. Unfortunately for Michael, gene therapy is a treatment and not a cure, but our goal is to cure kids by getting SPG50 on the newborn screening panel so we can cure kids- not treat them. 

What is your advice for other families who are on a journey to fund gene therapy and drug development?

Families have to understand that a lot of money has to be raised and they have to be willing to give up a lot to get the money you need. You have to have a solid family and the right team. Get your community involved, get friends and family involved and think outside the box to spread awareness about your disease. I encourage families to take my classes and reach out to me throughout the gene therapy and drug development journey.

CONNECT WITH TERRY

Website

https://www.curespg50.org/

Facebook

https://www.facebook.com/CureSPG50

Instagram

https://www.instagram.com/cure_spg50/

Twitter

https://twitter.com/CureSPG50

Email

[email protected]

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ONCE UPON A GENE - EPISODE 153

Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi

Bre Gastaldi is known as the Inclusive Educator and she teaches school districts how to implement inclusive practices. She's also a special education teacher. She joins me for a discussion on diversity and inclusion in all aspects of education and the school setting. 

EPISODE HIGHLIGHTS

Can you tell us about yourself and your work as an inclusion expert?

I got into special education by way of my own neurodivergence. I was diagnosed with ADHD in middle school, studied psychology as an undergrad and I started understanding myself better and fell in love with psychology and working with kids. I got my masters degree and began teaching, eventually becoming an inclusion specialist. I was also looking for ways to include my students in a variety of activities. My students excelled because of it, the school culture shifted and I began working with other teachers and administrators to improve inclusion practices. I have since branched off and became the Inclusive Educator. 

What is the biggest misconception around inclusion?

Inclusion isn't a program because true inclusion exists within your child's general education classroom- it's not a class they go to. If only certain students can be in an inclusion program, it isn't inclusive. Inclusion is an undeniable sense of belonging from the time a child walks into a classroom. It's a feeling of belonging and being valued and celebrated. 

How does inclusion affect a general education student?

A 2008 analysis of several studies found that inclusion had a neutral to positive impact on neurotypical students in 81% percent of studies. When there's an inclusive classroom and culture, all students are learning more. School districts doing a good job being inclusive reveals an increase of graduation rates. Inclusion impacts general education students in that they improve in academics, but they're also socializing with a reduced sense of fear, they generally have a stronger self esteem and better sense of self.

What are your top tips for inclusion?

Let your child lead because they will tell you one way or another when they're ready to participate more. As a parent, be intentional about making positive connections with the multidisciplinary team. If your child isn't being included, start slowly with focusing on what their interests are.

LINKS & RESOURCES MENTIONED

The Inclusive Educator Website

https://www.theinclusiveeducator.com/

Connect with Bre on Instagram

https://www.instagram.com/the_inclusive_educator/

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Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 152

A Rare Collection - Underestimated

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

Ryan Sheedy, Dad to Reynolds

When I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the University of Notre Dame. Rudy was too small, didn't have the grades to go to college and he was dyslexic. Now that I'm a dad, I love this movie even more because my son Reynolds is a real-life Rudy. He was diagnosed with an ultra rare disease called Costello Syndrome at 18 months old. Reynolds has spent 103 days in the hospital, has undergone countless surgeries, his medical team consists of 30 doctors and with an ultra rare disease, he is incredibly complex and medically fragile.  Reynolds never quits, he inspires many and reminds me to never underestimate the power of determination. 

Stephen Hager, Dad to Emma

When we were pregnant with our daughter, we underestimated how she would completely define who I was. When a neurologist explained her condition to us and said she would only live a few more months, we underestimated how resilient she would be. We underestimated the bureaucratic red tape we would encounter to get equipment and services. When we got services, we underestimated how draining it would be to take her to therapy five days a week. I underestimated how hard this life would be and how often I would need support. I also underestimated how readily people would offer support. 

Christopher Andrade, Dad to Logan

My wife Katie and I are raising three children. I always knew I wanted children, but underestimated how much I would love them. I love my children fiercely. Logan was diagnosed with Noonan Syndrome at a year old. Regardless of his condition, he was still my perfect son and nothing would change that. It was a struggle to get through the six months after Logan's diagnosis. I underestimated how painful it would be to be a parent. I remember the day the oncologist told us our son had cancer. I underestimated how painful it is to watch our children hurt and struggle, enduring things they shouldn't have to. It was brutally hard. When it came to his heart surgery, I underestimated what it would be like to see him after and the journey to recovery. When I started advocating online, I underestimated the toll it would take on me.

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Instagram

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ONCE UPON A GENE - EPISODE 151

Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson

Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy. 

EPISODE HIGHLIGHTS

Adam, what are some of your favorite quotes and why?

One that stands out in terms of transitioning into the rare disease space is from Daring Greatly and says, "What we know matters, but who we are matters more." This was impactful to me because when rare disease happened and I was losing my career, transitioning into survival mode, I had to find myself again and remember that who I was mattered more. 

Katie, can you share a quote that has impacted you?

It's very scary to be vulnerable and it reminds me of the quote, "Tell the story of who you are with your whole heart." Last time I was on the podcast, I shared vulnerable thoughts and feelings and later worried about who would hear them. This quote reminds me that it's important to open up and share and that it helps others feel they're not alone. Brene talks a lot about shame and says, "Shame is the fear of disconnection." When we are vulnerable, especially talking about rare disease, we connect and we feel more open and less ashamed.

LINKS & RESOURCES MENTIONED

Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd

https://effieparks.com/podcast/episode-125-katie-lloyd

Episode 052 - Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story

https://effieparks.com/podcast/episode-052-adam-johnson-mitochondrial-myopathy

Brené Brown, TEDxHouston: The power of vulnerability

https://www.ted.com/talks/brene_brown_the_power_of_vulnerability

Dare to Lead

https://brenebrown.com/book/dare-to-lead/

Atlas of the Heart

https://brenebrown.com/book/atlas-of-the-heart/

Brené Brown: Atlas Of The Heart on HBO Max

https://www.hbomax.com/series/urn:hbo:series:GYivWaAXEZMLDwwEAAACz

Daring Greatly: How the Courage to Be Vulnerable Transforms the Way We Live, Love, Parent, and Lead

https://www.amazon.com/Daring-Greatly-Courage-Vulnerable-Transforms/dp/1592408419

Parents As Rare Podcast

https://rarediseasedad.com/parents-as-rare-my-pod

A Very Rare Adventure Blog

https://averyrareadventure.com/

The Imaginary Dad Podcast on YouTube

https://www.youtube.com/channel/UCxSX6fMdpfcruG_Tt3JJ0TQ/featured

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CONNECT WITH EFFIE PARKS

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Built Ford Tough Facebook Group

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https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 150

Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi

Alok Tayi is a seasoned scientist and co-founder of Vibe Bio. Alok started Vibe Bio because the biggest obstacle in treating patients with overlooked diseases isn’t finding potential treatments — it’s funding them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Biosolutions, partnering with Vibe Bio to create Merlin Therapeutics, one of the first biotechs leveraging crypto's economic and coordination tools to fund research and drug development.

EPISODE HIGHLIGHTS

Nicole, can you introduce yourself? 

I am a physician and my 11 year-old son AJ was diagnosed with neurofibromatosis type two (NF2) when he was 6 years old. I realized very quickly that what was available for treatment was not what I wanted to be available for my son. I founded a 501c3 charity called NF2 BioSolutions, focused on accelerating gene therapy research for NF2.

Alok, can you introduce yourself? 

Last year my daughter was born very sick and spent a long time suffering in the hospital. The condition she has is common and the biology behind it is well understood, but there were no therapeutic options available to her. That’s what motivated me to create Vibe Bio, which will give patients more ownership over the drug development process and a community to support them along the way. 

Vibe Bio is considered a DAO, what does this mean? 

A decentralized autonomous organization (DAO) is a digital collective of individuals focused on a common mission, and the actions of this collective are mediated by voting and governance through a token that we all hold. Vibe Bio is building a community of patients, scientists and partners to help identify and vet potential treatments in the rare disease space. We then actually fund the drug development activities from those programs using cryptocurrency token sales. 

Can you tell us about your partnership between NF2 Biosolutions and Vibe Bio? 

We’re excited to announce two partnerships with NF2 Biosolutions and Chelsea’s Hope, which are focused on NF2 and Lafora. These patient groups have developed a community of patients, caregivers and scientific leaders in the space. The challenge is that they’re able to show that medicines work in a pre-clinical context, but they lack the capital to get them into a clinical trial. There’s a lot of excitement around the work that we’re doing because we’re hoping to show how the patient and community driven model allows us to advance medicines and unlock the development of candidate treatments.

LINKS & RESOURCES MENTIONED

Global Genes Patient Advocacy Summit

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

Vibe Bio

https://www.vibebio.com/

NF2 Biosolutions

https://nf2biosolutions.org/

Merlin Therapeutics

https://merlintherapeutics.com

Chelsea’s Hope

https://chelseashope.org/

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Built Ford Tough Facebook Group

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ONCE UPON A GENE - EPISODE 149

Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman

Zachary and Geri Landman are the parents of Lucy, who was born with PGAP3 during the pandemic. They're brilliant and driven, seeking treatments through their nonprofit, Moonshot for Unicorns. 

EPISODE HIGHLIGHTS

Can you share a little bit about Lucy?

Lucy is our adorable 14 month old daughter, born during the pandemic. Initially she was growing and developing like our two older daughters. When we began introducing food in a baby chair, Lucy would slump over. We weren't too concerned, but our pediatrician later referred us to a neurologist who recommended physical therapy. Lucy later underwent MRIs, a nerve conduction study, EEG to look for seizures and a spinal tap to look for potential infections or neurotransmitter deficiencies. After a final genetic test returned results, we were notified that Lucy had two bad copies of her PGAP3 gene. Because it was an ultra-rare diagnosis, there were no treatments, no therapies and no research around potential clinical trials. 

What inspired you to start Moonshot for Unicorns?

We didn't want any rare disease parents to go to bed the night of their diagnosis feeling the way we did- that there were no treatments and cures. A week after Lucy was diagnosed, we went into action mode, read every scientific paper available, emailed every author of every paper, learned all the details we could and started making connections with other families. We started Moonshot for Unicorns with a focus on PGAP3, but the goal is to develop therapies for the other single gene disorders that don't currently have treatments. Today, gene therapy is underway for PGAP3 and we're also doing drug repurposing work. 

What has been your experience with drug repurposing so far?

The labs are independent companies, some academic and some for profit, and you put your experiment in the queue and they give you a cost and timelines, which can vary and stretch out over months. We were told it could be up to 9 months until the lab would get to our experiment, so we started exploring the idea of a pop up lab. Going this route has given us a hands-on ability, we get regular updates and the possibilities are endless.

LINKS & RESOURCES MENTIONED

Moonshots for Unicorns

https://www.moonshotsforunicorns.org/

@lucythepgap3goose on Instagram

https://www.instagram.com/lucythepgap3goose/

Little Zebra Fund

https://littlezebrafund.org/

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Built Ford Tough Facebook Group

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Once Upon a Gene TV

https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 148

Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman

August is Spinal Muscular Atrophy (SMA) Awareness Month and sibling Cara Freedman joins me to discuss her experience growing up with her older brother Jack.

EPISODE HIGHLIGHTS

Can you tell us about your family?

I'm 22 years old and just graduated college with a degree in biochemistry and molecular biology. My older brother passed away in October from SMA Type 1. He was wonderful, always had a smile on his face and acted like he didn't have a care in the world. 

What was it like to be the sibling to Jack growing up?

Before I went to school, I didn't know that having a brother like Jack was out of the norm. Attending school changed everything when I realized my peers noticed Jack in a way I hadn't before. It made me feel different and I isolated myself for a bit. If 22 year old me went back to elementary school, I'd do something and stand up for myself. I treated Jack like a normal older brother, he teased me, I ignored him, he'd run me over with his wheelchair, and we did the typical sibling things. 

What helped you cope when you were growing up?

When I met people, it helped me feel normal to withhold that I had a brother with a rare disorder so they could get to know me first. It helped me to gain power back. I also spent a lot of time by myself, learning who I was and learning that I didn't rely heavily on anyone else. 

What boundaries did you have growing up to protect your mental health?

Something that helped was accepting that it was okay to want to get away to be alone and separate myself from chaos. It was also common for me to reserve medical talk for only when it was necessary. I did my best to remind myself that it was okay not to fit into a sibling mold and feel what I needed to feel.

What effect has growing up with Jack had on you as an adult?

I gained patience for myself and others and empathy through caring for other people. I find myself to be an empath and feel a lot of what other people feel, mostly because I could never feel what Jack and I always want to get into other people's shoes and understand who they are. I still care too much about what others think about me.

LINKS & RESOURCES MENTIONED

Global Genes Patient Advocacy Summit

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

Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D

https://www.bloodstreammedia.com/once-upon-a-gene-episodes/episode-090-mental-health-and-chronic-stress-with-rare-disease-dad-and-psychologist-al-freedman-phd

NORD

https://rarediseases.org/

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CONNECT WITH EFFIE PARKS

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