Once Upon A Gene Effie Parks

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
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Instagram
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ONCE UPON A GENE - EPISODE 230
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a break.

EPISODE HIGHLIGHTS

Can you tell us about yourself and your diagnostic journey?
I am a mom of three children and my oldest, Theo, was diagnosed a month after his first birthday with a rare condition called TBCK Syndrome. We started a foundation to build a community. Then, four years later, we found out that one of the genetic mutations offered a different diagnosis. With the misdiagnosis, we have been at a crossroads because we have built and grew a community for the initial diagnosis, but our advocacy efforts need to shift. We have been working to put the right people in place to carry the foundation forward and I'm still figuring out at what level I want to stay engaged.

How do you navigate and find balance between spending time with family and also your advocacy efforts?
When Theo was diagnosed, I jumped into advocacy to heal and cope and that's how I've learned to channel my emotions into something tangible and taking action helped me. In the last two years, I've felt like I am missing out on time with my kids and I've had to take a step back from advocacy a bit to just be a mom. I have no regrets for outsourcing care to do advocacy work and I'm grateful to be a part of the community, but I want to be clear on what makes sense for this chapter of our lives and what my goals are. I'm figuring it all out as I move through it.

Have you felt societal pressures about how to balance family and advocacy and how do you validate your advocacy commitments?
I feel lucky that everyone around us is supportive and has shown up for us in many ways. If anything, I've been my harshest critic. I push when I can and I don't beat myself up when I have low energy or high emotion days.

What advice do you have for parents trying to balance family and advocacy?
Listen to the touchstones you come back to, your inner voice, because that's your truth. Have self-compassion and don't beat yourself up as you find balance and determine what your family needs are.

LINKS AND RESOURCES MENTIONED
Librarey
https://www.librarey.com/
The TBCK Foundation
https://www.tbckfoundation.org/


CONNECT WITH EFFIE PARKS
Website
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Twitter
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ebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 229
Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to share about the collaboration.

EPISODE HIGHLIGHTS

What is a registry and why does a patient group need to have one?
A registry is a way to organize data as it relates to a particular disease. It's useful to bring the community together to learn where patients are in the world, aligning patients with clinical trials, and monitoring how a disease progresses over time. Sharing and publishing results collected in the registry also helps to bring awareness about the disease. 

What inspired the launch of a joint registry?
Our populations have an overlap in patients and we wanted to make it as easy as possible for patients and caregivers to participate in the registry. In addition to centralizing the registry overlap, we've made the process optimized for mobile, all in one place and as seamless as possible. 

What is the importance of participating in a registry and a natural history study?
Participating in a registry and natural history study are among the most important things you can do to contribute to the research of your disease. It doesn't cost anything but your time and there's no better way to get an accurate count of the patient population than through patient registries. This tool helps with having conversations with biotech companies and to prove that you're a commercially viable disease. 

What is next for the registry and what are your goals?
We still have a lot of work left to evangelize the registry and educate our community on the difference between a registry and natural history study, explaining how crucial they both are. The work we're doing with the registry combined with newborn screening advocacy and we won't be able to be ignored anymore. 

How can rare disease families start a registry?
There's a working group called Best Data Practices for Rare Disease Patient Foundations and Researchers on PHUSE with resources available on how to start a registry. The materials are easy to read and follow and they're available to everyone. 

LINKS AND RESOURCES MENTIONED
Global Genes Conference - Week in RARE
https://globalgenes.org/week-in-rare/
ONCE UPON A GENE - EPISODE 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
https://effieparks.com/podcast/episode-228-strength-in-unity
ONCE UPON A GENE - EPISODE 194 - A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
https://effieparks.com/podcast/episode-194-a-guide-for-rare-disease-patient-advocacy-groups
Patient registries: a practical guide for patient organizations
https://sophiazilber.gumroad.com/l/registries
Hope for PDCD Foundation
https://www.hopeforpdcd.org/
Cure Mito Foundation
https://www.curemito.org/
CoRDS
https://cords.sanfordresearch.org/account/login
Best Data Practices for Rare Disease Patient Foundations and Researchers
https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+Patient+Foundations+and+Researchers


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
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ONCE UPON A GENE - EPISODE 228
Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum

Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to discuss the critical role of unity among our rare disease patient advocacy organizations and why it's important to stick together. We'll also talk about the transformative potential of everycare initiative.

EPISODE HIGHLIGHTS

Why is it critical for rare disease advocacy organizations to strive for unity?
When there's splintering of fracturing among disease groups, there are less resources within each effort and there's a risk of duplicating efforts. There are also only so many experts to participate in a scientific advisory board and there may be competition for those experts among groups.

What is your best advice for organizations who may be experiencing competition or friction?
Friction happens because we care so much and we're driven to find treatments and solutions. When you want rapid solutions, it's important to recognize that the objectively best and fastest way to make an impact is working together collaboratively and consolidating resources.

What advice do you have for ultra-rare disease organizations that are worldwide and have a unique issue of centralizing patients and financial strength?
In the past I've seen this done well where existing organizations support new organizations starting in new regions of the world by sharing resources and materials and being a supportive partner. It's critical for disease organizations to work together on a global scale.

Can you tell us about Every Cure and how it aims to revolutionize treatments for rare diseases?
Every Cure is on a mission to unlock the full potential of every approved drug to treat every disease possible. When a drug is approved for one condition, there's often dozens of other diseases that the drug might be effective in. Every Cure was launched when learning that there was an incredible untapped opportunity to treat more diseases than approved drugs were originally intended for. There are also systemic barriers that prevent the untapped potential from being tapped into. I'm alive, along with thousands of other patients, because of drugs not intended for a disease that we re-purposed.


LINKS AND RESOURCES MENTIONED
Chasing My Cure: A Doctor's Race to Turn Hope into Action; A Memoir
https://chasingmycure.com/books/
Every Cure
https://everycure.org/
ONCE UPON A GENE - EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action
https://effieparks.com/podcast/episode-43-david-fajgenbaum
Share Your Drug Repurposing Insights
https://everycure.org/insights/


CONNECT WITH EFFIE PARKS
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