ONCE UPON A GENE - EPISODE 174

A Rare Collection - To the Moon and Back

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

Nicole Wright

After many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, seizures and developmental delays have worsened and multiple hospitalizations led to long recoveries. We have grieved McCall's initial diagnosis and we try to allow ourselves room to grieve the life we had envisioned for McCall. She can't enjoy simple things like school and gatherings. We will love and celebrate her no matter what, but we can see pieces of her fade without return. We will never stop fighting to get those pieces back through therapy and eventual life-changing treatments we know will come.

Kevin Alexander

Until I produced a documentary called My PKU Life, I was completely cut off from the PKU and rare disease communities. I was isolated. I knew no one like me and few people understood the challenges I faced. When I engaged with the community, a new world opened up to me. Life was different than before, and I knew it would never be the same after. It's been incredible to meet so many parents in our community. It's humbling to hear how they discovered my film after receiving their child's diagnosis and how it gave them hope. I still get messages like that and one of the best parts is seeing the love that parents have for their children with a rare disease— they sacrifice every day. Some have left their careers behind, created amazing organizations, held fundraisers and raised incredible amounts of money for research. On behalf of all of us, the children and adults living with a rare disease, thank you. 

Rhonda Thorington

I never fully comprehended my capacity to love until I had children of my own. One of my three children was four years old when she got sick and was diagnosed with mixed connective tissue. Raya loves to dance and has taken lessons since she could walk. When the disease impacted her mobility, she required high doses of steroids and one of the side effects was a 25 pound weight gain. She had greater mobility, but she was unrecognizable. Dance costumes that were ordered in the fall didn't fit by the time they arrived for the spring recital, and she had missed months of dance classes because she was too sick to go. I thought this disease robbed my daughter of her love for dancing, but I couldn't be more wrong, thanks to everyone else who loves Raya too. 

Rachel Heilmann

It is often said that grief is caused because you love someone so much, it hurts when they leave. When Rory was born, I knew she was different, exceptional, that her life would change our lives forever. I didn't know why or how deep that transformation would be. When she died from NARS1 disease, the gaping wound left by her worldly exit was indescribable. Charlie had to understand death at six. I had to understand it at 38, and we are both still learning how to live in love with the same fearlessness as we had before Rory died. The love and memories between Charlie and I continue to flood the emptiness left by the grief of Rory's death. For these precious moments, I’m so grateful, to the moon and back.

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ONCE UPON A GENE - EPISODE 173

Honoring a Husband’s Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter

Sarah Potter's husband Scott got sick and passed away while he was in the middle of creating a documentary about a rare disease called Acute Flaccid Myelitis and the families affected by it. Sarah has immersed herself into film making to finish Scott's documentary, all while working through her grief. The film is called When The Lotus Blooms and it will be released in Fall 2023.

EPISODE HIGHLIGHTS

Can you tell us about your rare disease and grief journey?

My husband was working on a film about a rare disease called Acute Flaccid Myelitis (AFM), sharing the stories of affected families not having answers about the cause or treatment. We experienced something similar when my husband had a medical event and was hospitalized for several months before we lost him in July 2020. Because he was so passionate, I knew the story had to continue to be told. It's been a wonderful way for me to honor his legacy and do the good in the rare disease community that he set out to do. 

What is your husband's connection to the AFM community?

He was active in our local live storytelling community where there were monthly storytelling events and that's where he met a professor with an expertise in epidemiology. When she learned my husband was a filmmaker, she approached him with a story of a mom in her network who had a little boy with AFM and she asked for his thoughts on how to create a film to make an impact and create change around the disease. He was hooked and worked for the better part of a year to gain funding and do research before the filming began.

How does your grief align with families in the rare disease community?

There are a lot of parallels and I have the ability to connect with them, understanding what it's like to be going along with your day-to-day and suddenly something changes in a split second that your world is different. 

What advice do you have for families who want to make a film?

If you have a desire to tell your story, think about your takeaway, audience, how you want them to feel and what you want them to do. Everyone in the rare disease community has two elements of a wonderful story-- something unique and something inspiring. If you have an engaged patient advocacy community, I would recommend crowdfunding to fund the film production.

LINKS & RESOURCES MENTIONED

Sarah Potter on Twitter

https://mobile.twitter.com/storyofthelotus/with_replies

How to Carry What Can't Be Fixed: A Journal for Grief

https://www.amazon.com/How-Carry-What-Cant-Fixed/dp/1683643704

It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand

https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=&sr=

Megan Devine on Facebook

https://www.facebook.com/refugeingrief

Megan Devine on Instagram

https://www.instagram.com/refugeingrief/

Becky Sansbury on Twitter

https://twitter.com/AftrTheShock

After the Shock: Getting You Back On the Road to Resilience When Crisis Hits You Head On

https://www.amazon.com/After-Shock-Getting-Resilience-Crisis/dp/0692447571

The Rare Disease Film Festival 

https://www.rarediseasefilmfestival.com/

Follow the AFM Documentary 

https://afmfilm.com

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Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 172

From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts

Madeleine Oudin is a scientist and Tiampo Family Assistant Professor at Tufts University. Her daughter Margo has two de novo mutations in the SCN8A gene, which causes epilepsy. She's navigating life as a rare, working mom and sharing her knowledge in an understandable and accessible way for other rare parents. 

EPISODE HIGHLIGHTS

Can you tell us about the epilepsy conference you just attended?

The SCN8 community organizes the conference for clinicians, researchers and families every year at the American Epilepsy Society meeting. There were over 35 families in attendance who have children with SCN8A and it was amazing to meet everyone in real life.

What advice do you have for parents who aren't sure about attending a conference?

Meeting other people has made a big difference for me and I encourage others to find their people. Going to gatherings can lead to finding resources and there's value in connecting to others and learning more about a disease. Community is everything.

As a scientist and now a rare parent, how do you look through the microscope differently?

The impact of genetic testing surprised me in how vital it is when it comes to rare genetic diseases. When Margo had her first seizure and had genetic testing, the results helped to connect us to community. Genetic testing is vital for families to connect them to resources.

What work have you done in the SCN8A community to help other families understand the disease and advance the treatment progress?

Science communication is something I'm passionate about. Since becoming a rare mom, I started an Instagram account where I explain the science of the diagnosis and break it down so the information is accessible to everyone. I recently did a webinar breaking down the different treatment strategies for SCN8A. 

Can you talk about Margo's acceptance to n-Lorem?

We applied with our neurologist and were accepted into the foundation to develop custom Antisense oligonucleotide (ASO) treatments. In parallel, we're doing treatments in my lab on a mouse and mouse cells, testing out different ASOs to see if we can gain any additional insights.

LINKS & RESOURCES MENTIONED

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

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

Margot_thebrave on Instagram

https://www.instagram.com/margot_thebrave/

SCN8A Alliance  

https://scn8aalliance.org/

American Epilepsy Society

https://www.ilae.org/

The n-lorem Foundation

https://www.nlorem.org/

SCN8A Unraveled

https://www.youtube.com/playlist?list=PL-RngxzecxdLsaJFQyerqqfGLarDe9MUt

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ONCE UPON A GENE - EPISODE 171

Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella

Julia Taravella is a mom to two adult children, Alexander and Daniel, and she's the founder of the Rare Trait Hope Fund. Julia's sons didn't have a diagnosis for 16 years until she went above and beyond to seek out answers and use the genetic data available to her to reveal a diagnosis of Aspartylglucosaminuria (AGU), a rare, fatal, lysosomal storage disorder. 

EPISODE HIGHLIGHTS

Can you tell us about your sons and their diagnosis journey?

Alexander and Daniel are 22 and 27. In kindergarten and first grade, Daniel was doing below average. Daniel was 5 years old when his brother Alexander was born. Alexander started early intervention, but started to have the same delays as Daniel. Having two children presenting the same developmental delays, I suspected it was genetic, but it was difficult to get genetic testing at that time. I sought consultations with physicians and specialists, the boys underwent testing, and all results revealed they were within the expected range. A direct-to-consumer genetic test came out on the market and I bought two of them for my husband and I, figuring there may be something uncovered through our DNA. We went on to test both kids and close relatives too and the results were inconclusive. I dug deeper by downloading all of the data from the testing website and went back to doctors with it, but I wasn't taken seriously. I found a person in bioinformatics who agreed to analyze and clean up the data. When the data was returned, I took genetics classes for 6 months, wrote a program to analyze the data and determined my sons had AGU. The diagnosis was confirmed by doctors through further blood and urine testing.

What did you do after getting a diagnosis? 

I attended a conference and connected with new families with other glycoprotein lysosomal diseases and it helped to meet them. I had hope that something could be done and I frantically started writing emails to anyone I could find in the published AGU literature. I wrote about 200 emails and through those emails I connected with a Finnish doctor who invited me to go to Finland to meet with her. We stopped in Germany on the way and connected with a biochemist to discuss potential treatment options. 

What should everyone watch out for when developing gene therapy programs?

It's important to have a signed sponsorship agreement about how research and funding is handled without knowing what you'll get in return. Take small steps and don't invest everything you've raised at once to test if you'll receive the results you want within the time frame you've set. Step-by-step developments will help develop a rapport with your researcher to develop trust and gain understanding about where funding goes. Also be sure to understand who is working on what and maintain open lines of communication with everyone.

LINKS & RESOURCES MENTIONED

Rare Trait Hope Fund

https://www.raretrait.com/

23andMe

https://www.23andme.com/

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

https://effieparks.com/podcast/episode-154-terry-pirovolakis-groundbreaking-gene-therapy

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Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 170

A Rare Collection - New Beginnings

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

Noelle

When your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive and fatal disorder that causes mental and physical deterioration. Children lose the ability to perform skills such as walking, talking and swallowing. There's not currently a treatment or cure. The day Logan was diagnosed, I learned life doesn't always go as planned. The picture perfect future planned in my head was gone. I grieved my child and the future I thought we would have. I was scared of the new future and I closed myself off emotionally. I can't change what the future holds for Logan, but I don't want to miss up on feeling the love, joy, and even the sadness that comes along with this new beginning. I live in the moment and when something goes wrong in life, I yell "plot twist" and move on. 

Frances

In Emily Rapp Black's memoir, The Still Point of the Turning World, she describes parents of terminally ill children as dragon parents. Like medieval map makers inscribing unknown regions of the world, we represent a parent's worst fear- the grief of receiving a death sentence for their child. My daughter Violet passed all of her newborn screenings in the hospital, but I soon became concerned with how sleepy she was and how difficult she was to feed. Our pediatrician referred us to a neurologist who ordered a brain ultrasound and genetic testing, but the results didn't offer any answers. With more symptoms developing, I sought out more opinions and Violet was finally diagnosed with a rare and fatal mitochondrial disease called pyruvate dehydrogenase complex deficiency (PDCD). My transition and new beginning as a dragon mom had already begun as I flew around every last corner of the internet hunting for answers, ready to breathe fire upon anyone who tried to harm my daughter. Violet is a powerful unicorn teacher and I am her fierce and loyal dragon.

Patrick

My son Calum has rare chromosome abnormalities. His first seizure was scary and opened a chapter full of new beginnings. As his dad, this chapter taught me to be grateful and to have a perspective that allows me to celebrate every moment I can. Calum's first seizure was an awakening. I realized that I needed more opportunities and experiences with my kids and to focus more on them and less on myself and my work. We celebrate every day like the new day it is and Calum has given me that perspective.

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ONCE UPON A GENE - EPISODE 169

Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO dadvocate Andrés Treviño

Andrés Treviño is a dadvocate, author and storyteller. His story is full of twists and turns and even moving across countries to save his child. I had the pleasure of meeting him in person at the Global Genes Patient Advocacy Summit and I'm thrilled that you get to meet him too, because happiness is meant to be shared.

EPISODE HIGHLIGHTS

Can you tell us where your story begins?

Andy and Sophia are the reason I got into advocacy. Andy was born in Mexico City with a condition called NEMO in 1999. Within 48 hours of birth, he developed a life-threatening infection and he wasn't able to fight the infection without IV antibiotics. My wife and I quickly became experts in extreme parenting, living in the hospital for almost 1000 days with Andy, battling infections of his nervous system, bones, GI tract, sinus and skin. We found a hopeful solution in moving to Boston. In Mexico City, we received a diagnosis of bad luck, but after a couple months at Boston Children's Hospital, we got a real diagnosis and real answers. In 2004, our daughter Sophia was born. Cells were gathered from her umbilical cord and at a couple months old, additional blood was taken from her bone marrow. The bone marrow and umbilical cord stem cells were used in a complex procedure to replace Andy's affected cells. 

How are Andy and Sophia now?

Andy is 23 and graduating college in December. He is studying Communications. Sophia just recently started college. They have a very special bond. We also have a third daughter Tanya who is 13 and a blessing. 

What motivated your decision to do the work you're doing?

My career was originally in professional communications, but after what we lived through, I wanted to help others facing similar situations and facing rare disease. I get to meet so many people in the rare disease community that inspire me with their resiliency. 

What are your tips for someone who wants to tell their story?

Think of six words that explain your story, like "happiness is meant to be shared", which is what I use to share my story. This gives you a starting point. Canned stories, or those that are read from a script, doesn't convey a story told from the heart. A raw story is sharing something very difficult and emotional which makes listeners feel bad for you, but it doesn't leave them compelled to do something. A well-told story is crafted, moments are selected to connect with the audience and practiced instead of read. Positive stories move people and make others feel hope. 

LINKS & RESOURCES MENTIONED

The Disorder Channel

https://www.thedisordercollection.com/

Andy & Sofia: Stem cells, scientific miracles and one fit savior

https://www.amazon.com/Andy-Sofia-scientific-miracles-savior/dp/0615422373

Living Proof Advocacy 

https://www.livingproofadvocacy.com/

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Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 168

Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel

I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom. 

EPISODE HIGHLIGHTS

What led up to your attendance at the Global Genes conference last year?

My daughter was diagnosed with a rare disease in July 2022. I had just met another mom whose child had a mutation on the same gene and she mentioned the Global Genes conference. I decided to go, but upon arrival, I felt really out of place not knowing anyone there. I didn't know what to do and I wasn't confident in putting myself out there to network. I told my husband that I was going to fly home and he convinced me to stay and see what happened, and I'm glad I stayed. It was a magical three days of networking, learning and meeting mentors. 

How did you find the courage to go to the Global Genes summit after getting a diagnosis only a couple months earlier?

When I got the diagnosis, I wasn't in a good head space, but the idea of doing nothing scared me more than taking the leap of going to the conference. It was a good starting point to go and see what others were doing for their kids and it was the best decision I made. I made so many connections with rare disease advocates that have helped me to get to where I am. 

How did you teach yourself about DLG4 and determine your next steps?

A month after diagnosis, I shared the information within my network on Facebook and asked for help. I asked specifically for scientists, doctors and geneticists to help and so many people stepped up. A friend invited me to visit her in the lab to explain the science around how proteins work. Another friend who is a genetics counselor met with me. I attended the Global Genes summit, but I also kept researching and figuring out what to do next. I read blogs, listen to podcasts, talk to patient advocacy groups, network and ask questions. 

What are you planning for right now?

I feel strongly after talking to doctors and patient advocacy groups, that I want to do a drug repurposing screen for our gene. I'm taking things one step at a time-- the most obvious is a drug repurposing screen that isn't going to cost an amount of money I can't raise and it'll be impactful in the short-term for anyone impacted by DLG4. Looking at the big picture, my confidence takes a hit, so I'm taking things one day at a time, understanding that I can't control the variables of the future.

LINKS & RESOURCES MENTIONED

ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group. With Nasha Fitter and Mike Graglia

https://effieparks.com/podcast/episode-094-mike-and-nasha

Save the Date for the 2023 RARE Patient Advocacy Summit

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

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