Once Upon A Gene Effie Parks

ONCE UPON A GENE - EPISODE 236
Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

Charles River Labs is a rare disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer to talk about Charles River Labs’ support, rare disease research and how patient advocacy organizations can team up with them to make a big impact. 

EPISODE HIGHLIGHTS

What does Charles River Labs do?
We are a global research organization that supports biotech companies and pharmaceutical companies to get drugs in front of the FDA and other regulators so they can initiate clinical studies.  

What do patient advocacy groups need to have in place to contract with you?
When they come to us, we will need at least the genetic testing done already, but from there we can guide them and provide supporting resources. 

Are patient advocacy group roles in research and drug development evolving? 
I've clearly seen the power of the network and families reaching out to other families. They find each other, refer each other to stakeholders that can help them along the way and genetic diagnosis is happening sooner. 


LINKS AND RESOURCES MENTIONED
Charles River Labs
https://www.criver.com/

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 235
Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein

My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience. 

EPISODE HIGHLIGHTS

What has your diagnostic journey been like?
The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life. 

How did you connect with others in the NMOSD community?
I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis.

Do you have any advice for someone who's newly diagnosed?
It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others. 


LINKS AND RESOURCES MENTIONED
Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive
https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847
Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life
https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/
Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc.
https://www.youtube.com/watch?v=cfnE7cxfY3s
ONCE UPON A GENE - EPISODE 234 - Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd
https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-katie-lloyd


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 234
Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

This new series, Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together!

EPISODE HIGHLIGHTS

Katie, what is your vision for this series?
I think many caregivers to family members who have rare diseases, or perhaps they have a rare disease themselves, find themselves in a really dark place initially. It feels like you're in a deep trench where everything feels hopeless and scary. I'm not really in that place anymore, life has moved on a little bit, and I see things differently. I feel differently from how I did four years ago. But some of the narratives I see online tend to stay in that deep, dark place, surrounded by a lot of negativity. What I would love to see is people who change that narrative, who bring light and joy to their communities, despite all the terrible things that are happening.

Effie, can you talk about the stories we want to share and what we want to pull from the community?
I want to feature stories from the community about when someone inspires you to be brave, or stories about perspective changes and parent positivity. I believe we rise by lifting others and even celebrating someone's achievement or highlighting someone's inspiring content shifts the narrative. The bead doesn't need to be hidden, but the good needs to be highlighted. We'd love to hear stories of bravery and community connection, how positivity has affected you, how situations have manifested into new relationships and circumstances. We want to hear about the little Glimmers and the big ones too.

Effie, what is your advice for protecting yourself from negativity?
As a caregiver who was so sad, disconnected and deeply isolated, I reached out through podcasting and got everything I needed without giving anything, because I didn't have anything to give at the time. Through this, I found my community and my people. When you're in the thick of it, you need support and embrace, and that's what listening to other people's stories did for me. My advice is to seek out a space where you can just receive, like this podcast.

Katie, what would you like to leave our friends with today?
Please don't look at this as a crusade against all negativity, because sometimes things just aren't wonderful. Instead, start to take notice of glimmers that are happening in your life and see what happens if you turn your attention to it.

LINKS AND RESOURCES MENTIONED
HNRNP Family Foundation
https://www.hnrnp.org/
ONCE UPON A GENE - 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


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.fac
ebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 233
Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

LINKS AND RESOURCES MENTIONED
Project Findout
https://projectfindout.org/

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 232
Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports. 

EPISODE HIGHLIGHTS

What is genetic testing and what does the first appointment involve?
Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child. 

Why is it important for parents to consider doing genetic testing?
There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team. 

Can you talk about the barriers to genetic testing and how to overcome them?
The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria. 


LINKS AND RESOURCES MENTIONED
Project Findout
https://projectfindout.org/
Probably Genetic
https://www.probablygenetic.com/
CTNNB1 Connect & Cure
https://curectnnb1.org/
NSGC Find A Counselor Directory
https://findageneticcounselor.nsgc.org/
Follow Abby Turnwald on Instagram
https://www.instagram.com/pedsgcabby/


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/