Once Upon A Gene

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

https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7

A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff Jul 15, 2021

Show notes

ONCE UPON A GENE - EPISODE 091

Episode 091 - A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff

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. Patrick James Lynch, Michelle Morganoff and Anna Laurent share stories of re-runs.

EPISODE HIGHLIGHTS

Patrick James Lynch

Patrick shares a story of him and his brother growing up with hemophilia, going to summer camp every year and getting to meet kids affected by a range of illnesses. They later went on to be camp counselors. After Patrick's little brother died, he was devastated and spent years struggling to move forward. He went back to camp as a head counselor, to find himself, to feel productive, to recollect the memories of the summers he spent at camp with his brother. With the closing announcements at the end of summer camp, Patrick felt he had said his final goodbye and realized that no re-run is ever the same as it is the first time you watch it.

Michelle Morganoff

Special is a new comedy series on Netflix that has Michelle hooked. Special is about a young gay man with cerebral palsy, navigating his way into adulthood and dealing with the real issues that exist in our society. Michelle shares how certain episodes keep her coming back to watch the re-run time and time again. She reflects on how the story lines of each episode make her feel validated, feel seen and how her observations impact her as a mother to her two children- one neurotypical and one neurodiverse.

Anna Laurent

Anna shares a story about a small girl who can't be still, scratching her body, in discomfort, and mesmerized by Mulan on the TV. Night after night, the girl fixates on Mulan, she smiles and giggles and she's content with the movie's ending. She watches the movie over and over until her hands slow, her body relaxes and she's finally able to drift off to sleep. For years, the girl is affected by the symptoms of Alagille Syndrome and watching Mulan is her only ticket to a restful night's sleep. Anna shares how the movie offered comfort in difficult, medically complex times and how it still brings joy into her life as a young adult.

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Spotify

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

Freedman Counseling Associates Website

Effisode - Family Camp, Annoying Brothers, and the Doom of Packing Jul 13, 2021

Show notes

Intro music by Scott Holmes

Mental Health and living with chronic stress with Rare Disease Dad and Psychologist, Al Freedman, Ph.D Jul 08, 2021

Show notes

ONCE UPON A GENE - EPISODE 090

Rare Disease Dad and Psychologist Al Freedman, Ph.D

Al Freedman, Ph. D is a rare dad to a son with Spinal Muscular Atrophy (SMA), a psychologist who specializes in supporting families affected by rare disease and disability, a speaker, author and such a nice guy. There's a lot of wisdom to gain from his personal experience as a rare disease dad and his professional expertise.

EPISODE HIGHLIGHTS

Can you tell me about yourself and your son?

My son's name is Jack and he was born a healthy baby in 1995. Six months later he wasn't sitting up, rolling over or developing normally. The pediatrician advised us to take Jack to a pediatric neurologist. Jack was soon diagnosed with an untreatable condition called Spinal Muscular Atrophy (SMA) and that he wouldn't be with us for more than a year from his diagnosis. We were traumatized by the diagnosis and prospect of losing our baby, but 25 years later I'm blessed he's still with us. I'm lucky to be his dad and have him here to guide me to help other families facing similar challenges.

Were you a Psychologist at the time of Jack's Diagnosis?

I was finishing my doctorate in counseling psychology and in my year of internship, so I was just out of school. I planned on being a psychologist, but hadn't planned on needing one so acutely in the middle of my internship. I found myself on both sides of the therapy room.

What is the difference between trauma and PTSD?

PTSD stands for Post Traumatic Stress Disorder, so it's a form of trauma, but trauma can take on many forms. In working with many families facing rare disease diagnosis and the challenges that come with that, the first thing that's important to know is that they're not crazy but the symptoms can make you feel crazy. Trauma symptoms are real and normal- a normal reaction to very unusual stressors.

Does trauma or PTSD ever go away?

Most people at the beginning of a rare disease diagnosis journey are more fragile and have more pronounced symptoms due to their lives being flipped upside down and they're disoriented. After time, people are able to meet other people they relate to and get practice in the new world. Depending on the journey and experiences, some may have ongoing trauma responses to triggers.

What are the long term effects of living with chronic stress?

A lot of the most complicated things I see as a practicing psychologist are solved by looking at three basic things- how you are sleeping, how you are eating and if you can exercise. We can't function well without sleep, proper nutrition and exercise. Long term chronic stress can impact your mental health and eventually your physical health so it's important to care for the caregiver.

What message would you like to share with everyone listening?

Never give up and keep your hope alive for yourself, your kids, your family. I never imagined back in 1995 that Jack would live this long and be so vibrant. I never imagined something so positive could come from something so painful. Have hope that you'll find meaning in your experience.

CONNECT WITH AL FREEDMAN

https://www.freedmancounseling.com/

Freedman Counseling Associates Facebook

https://www.facebook.com/freedmancounselingassociates/

Al Freedman Email

al@freedmancounseling.com

Al Freedman Linkedin

https://www.linkedin.com/in/albertfreedman/

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

Once Upon Gene TV - Disorder Channel

Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle Jul 01, 2021

Show notes

ONCE UPON A GENE - EPISODE 089

Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle

Exposed first hand to research of genetic diseases and the lack of information known, my guest quickly realized the need to streamline the process of translating genetic data into therapeutic discoveries. James Doyle is the Co-Founder and CEO of Modelis whose mission is to rapidly advance personalized drug discovery for rare genetic diseases.

EPISODE HIGHLIGHTS

What is your background and what drew you to this field of research?

I'm a scientist by training, but an entrepreneur by spirit. My background is in molecular genetics and I like to understand how genes work, what they do and how mutations of genes influence function and lead to a disease. Along with a couple of colleagues, Modelis was founded which is a biotech company that does drug screening and translational drug discovery for rare genetic disorders using small animal models to accelerate the process.

What is translational drug discovery?

It's the bench to bedside approach of taking findings from a lab to a clinical, real world setting where they can have a real world impact.

What is the process for a patient organization or advocacy group who is seeking research?

An initial feasibility study is conducted on small animal models to see if the gene is a good candidate for the models. Genetic avatars of the patients are created with worms using genetic engineering techniques. The animals are used to better study the disorder, the underlying causes of the disease and drug screening. The worms are used to rapidly discover drugs with a high translational potential. The next step is to validate the findings in zebra fish and then potentially a rodent model to further validate drugs.

How does Modelis help to accelerate research?

For a lot of disorders, it's rarely a one-size-fits-all equation. Research can be accelerated through leveraging different approaches in a complimentary manner, like exploring drug repurposing with small animal models while also pursuing gene therapy.

What is the cost for a patient organization who is seeking drug research?

It depends, but it's a customized approach based on each specific disorder. We work with groups through venture philanthropy or social impact investing and strive for collaborative wins that can be shared back with the community who initiated the research.

LINKS AND RESOURCES MENTIONED

https://www.thedisordercollection.com/

CONNECT WITH MODELIS

Modelis Website

https://modelis.ca/

Modelis on Twitter

https://twitter.com/ModelisLabs

Modelis on Facebook

https://www.facebook.com/ModelisLabs/

Modelis on LinkedIn

https://ca.linkedin.com/company/modelis-inc

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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

Once Upon Gene TV - Disorder Channel

Effisode - Heatwaves and a Happy Birthday Jun 29, 2021

Show notes

Intro Music by Scott Holmes

Living with Persistent Uncertainty without a Rare Disease Diagnosis with Meghan Halley Jun 24, 2021

Show notes

ONCE UPON A GENE - EPISODE 088

Living with Persistent Uncertainty Without a Rare Disease Diagnosis - Meghan Halley

I met Meghan Halley on the NORD Living Rare Living Stronger planning committee. She co-chairs the patient and family support group for the Undiagnosed Diseases Network. She's a Stanford research scholar and a mom to her undiagnosed son Philip.

EPISODE HIGHLIGHTS

Can you share about yourself?

I'm the mom of three kids and my middle son Philip, who is six years old, is undiagnosed with a rare condition. I've become more involved in advocacy as it relates to access to diagnosis for individuals with rare disease, particularly ultra rare. Because Philip is a patient in the Undiagnosed Diseases Network, I became involved in advocating UDN as a resource for the rare disease community. I am a medical anthropologist and a research scholar at the Center for Biomedical Ethics (SCBE) at Stanford University. I do research on the experiences of patients and families with ultra rare and undiagnosed diseases, with a particular focus on how stakeholders involved in providing sequencing have different values and how that determines who has access. Philip is at the core of everything because after three years, he still doesn't have a diagnosis.

Why are you advocating for the UDN as a resource?

Philip had several complex medical issues which didn't fit together and we were introduced to the UDN. It was developed and expanded as the tools of exome and genome sequencing for diagnosis of rare disease was better understood. With the expansion they identified clinical sites and scientists interested in advancing the science of rare disease diagnosis through a case study approach where they worked with patients and families who had clinical indicators, but no genetic diagnosis. I became more involved to support patients and families, but I've learned the program will eventually be de-funded and the operation and support of families and patients from the UDN for will be at risk.

How do you embrace the uncertainty of having an undiagnosed child?

I definitely live with uncertainty having a child with complex medical needs with no data to guide us. Managing decision making is the hardest aspect, as well as not knowing what the future holds. Without a diagnosis, we can't even begin to think about therapies and we don't have the benefit of connecting with others on research and advancement that others can take advantage of. Being a mom, it's difficult to maintain normalcy for my other children, find balance and take care of myself through daily life.

What advocacy outcomes are you most proud of?

My husband and I are still a team, my children are happy and thriving. I began by advocating for Philip, but as I've forged, pathways have stayed open for other families. I'm proud of what I've been able to achieve in getting services for Philip and he's thriving above and beyond what would probably be expected. I'm still learning from others how to navigate advocacy and I'm excited to keep learning from others who do this work so effectively in the rare disease community. I'm proud to be a part of this community and I'm grateful for the relationships I've formed.

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https://www.thedisordercollection.com/

Undiagnosed Diseases Network

https://undiagnosed.hms.harvard.edu/

Undiagnosed Diseases Network - Facebook

https://www.facebook.com/udnconnect/

UDN Families - Facebook

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

When All You Have Is Quality of Life — Making Medical Decisions in the Face of Uncertainty

https://www.nejm.org/doi/full/10.1056/NEJMp2001574

CONNECT WITH EFFIE PARKS

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

A Rare Collection - Superheroes Jun 17, 2021

Show notes

ONCE UPON A GENE - EPISODE 087

A Rare Collection - Superheroes

This is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes.

EPISODE HIGHLIGHTS

Casey Parks, Father to Ford with CTNNB1

Casey shares a story from when he was little, going to the comic book store with his dad and brother. His favorite comic was Captain America. As he grew, he still loved superheroes and looked forward to introducing his kids to the world of super heroes in the same way his dad did for him. He hoped his son would love Captain America as much as he did. Casey shares about his son Ford, born with a rare genetic condition called CTNNB1, and how the things he remembers from his childhood, the things he wanted to share with Ford, probably won't be a part of their father-son journey the way he imagined. But what it's taught him instead is that Ford is his real life Captain America.

Bo Bigelow, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Tess with Hao-Fountain Syndrome

Bo tells a story about a boy he met, a 7 year old superhero. He shares about his 11 year old daughter Tess who has Hao-Fountain Syndrome. She doesn't talk, she has autism, seizures and intellectual disability. At a picnic on a hot summer day, Tess was overheating and miserable. The picnic where Bo was hoping to connect with other parents and other children like Tess had left him feeling isolated and disappointed. Departing the picnic gathering, Bo took Tess to the beach to cool off in the water. A 7 year old boy stood by in the water watching Tess. He asked about her. He asked how old she was. He asked why she didn't talk. He was interested and curious about Tess. When Bo told the boy that Tess didn't speak, the boy reacted with a heroic statement. The boy saved the day. He was a superhero.

Daniel DeFabio, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Lucas with Menkes

Daniel compares the strengths of superheroes and the often opposite comparison of kids with rare disease- that they can do less than others and there's a lot they cannot do. Daniel's son Lucas needed a wheelchair and needed a food tube. Instead of focusing on Lucas' lack in ability to speak, he focused on his expressions, how infectious his grin was and laugh were. People found his gifts remarkable. With all his challenges, he found and exuded joy and inspired others to do the same. Lucas used the superpowers he had to do good and spread good to those around him. What would you do if you had superpowers?

CONNECT WITH EFFIE PARKS

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