Once Upon A Gene

10/31/2024

💜💜💜

10/25/2024

Thank you, Kelly 💜💜💜💜
So grateful for you

10/19/2024

We’re gearing up for our Wellness Day Revival event on January 25th, and we want to add some extra joy for our incredible caregivers. So, we’re putting together giveaways to make this experience even more special, and we need your help!

If you or your company can donate something for our giveaways - whether it’s wellness products, services, or something fun - we’d love to feature your contributions during the event!

✨ Let’s give back to those who give so much. ✨

Also, don’t miss out - save your spot now and register ASAP! You won’t want to miss the fun, the community, or the epic expert lineup.

Head to https://effieparks.com/events to register

10/06/2024

💪🏽 Uplifting Athletes is a community unified under the idea that no person should ever feel alone. We harness the power of sport to invest in the lives of people impacted by rare disease so that everyone has hope for the future.

📆 Here are some upcoming events that they’re having this month. Is there one close to you?

•October 4th: Virtual Bingo with Notre Dame Women's Basketball- Nationwide

•October 6th: Davidson Women's Soccer Gameday- Davidson, NC

•October 13th: University of Incarnate Word Women's Soccer Gameday- San Antonio, TX

•October 16th: Virtual Bingo with Notre Dame Men's Basketball- Nationwide

•October 19th: Northwestern Football Gameday- Chicago, IL

•October 30th: Halloween with Mississippi State University Football- Starkville, MS

09/30/2024

Please join me in congratulating and celebrating our Ctnnb1 Connect & Cure@followers leader, Emily Amerson. She has elevated our organization with her kindness, transparency, and relentless drive to our cause. Emily leads with love (her soft-spoken southern accent might help, but don’t be fooled - she’s a force!), and her impact has been nothing short of incredible. 💙 💛
Like any authentic leader, she’s questioned this path - wondering if she’s good enough, smart enough and probably muttering a few choice swear words. But those qualities are exactly what make her so effective and relatable.
I couldn’t be prouder of her, and we’re beyond lucky to have her guiding us. Rare disease players, if you haven’t met Emily yet, please introduce yourself!
is on 🔥 all around the world and we are so proud to be united with one another in our efforts.
Terry Jo Vetters Bichell Anna PfalzerTaylor Morris Global Genes Taylor Morris Rachel Forest Heilmann Kristin Little Hatcher

09/11/2024

Today is such a monumental day, and it's incredible to see how much effort has gone into getting to this moment!
Dr. Wendy Chung will be presenting our case in front of the
CDC and Prevention Coordination and Maintenance Committee at 3:30 pm EST, arguing for an -10 code to be granted for . This code is more than just a formality - it’s the critical key to unlocking so much for our community. Without it, our patients remain invisible, scattered across different medical systems, and uncounted. This lack of recognition leads to a cascade of issues - underreported data, lack of funding, missed opportunities for research, and, most critically, no clear path to better treatments.
Having a code means being counted, and being counted means access to better care, more precise treatments, and the attention that
CTNNB1 patients deserve. It means we can finally build a clearer picture of the prevalence and impact of this rare disease, making the journey less lonely for each family. And we couldn’t have done this without the incredible support of COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental
, who helped push this mission forward.

How will it go today?
I believe we’ve done everything we can, and I am choosing to be hopeful - though I know how impossible this process has been for my fellow rare diseases.
We’ve got brilliant minds and passionate advocates on our side. Send all the good vibes!!!
Listen to this episode to understand:

Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and treatment of so many rare diseases.

09/10/2024

I’m beyond excited to see your faces at the Global Genes Summit in just a couple of weeks! Whether you're a seasoned pro or brand new to this incredible rare disease community, come find me! As always, I can’t wait to hug the familiar faces, meet new friends, learn, celebrate, brainstorm, and soak up every bit of this experience.

I’m especially honored to moderate a panel on one of my absolute favorite topics - community. It's going to be packed with insights, inspiration, and ideas you won't want to miss.

Still on the fence about attending? Go ahead and climb down, head to your computer, and register! Trust me, you’ll never regret it - and it just might be life-changing.

Use code FriendOfEffie for 15% off, and I'll see you in Kansas City!

09/09/2024

Amber Freed: Advocate, rare mom, and Founder of Slc6a1 Connect

In this episode she shares the roadblocks and the importance of ICD-10 codes for rare diseases.
Hear some of her personal struggles and the broader challenges faced by the rare disease community in navigating the healthcare system's reliance on these codes for diagnosis, treatment, and insurance billing.

Amber highlights the urgent and critical need for COMMON-SENSE reforms to facilitate research, recognition, and treatment of rare diseases. Our space needs accurate coding. Period.

How do we fix the process for obtaining ICD-10 codes for new diseases, and what are the collective efforts needed to drive change in this pivotal area of clinical medicine?

Once Upon A Gene 🎧Link to full episode in comments.

Leave a comment/share this post/listen and subscribe and help lift this message so rare disease is heard.

COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental
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Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and treatment of so many rare diseases.

08/22/2024

If you are on the fence about joining us at the 2024 Global Genes Week in RARE - head over to Once Upon A Gene podcast and listen to episode #237 for a quick pep talk!

Use discount code: FriendOfEffie for a discount on registration.

The 2024 Global Genes Genes Week in RARE is happening in Kansas City, MO from September 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy Summit and the Rare Champions of Hope Awards ceremony. Why attend? This will be four days of community, capacity building, empowering rare disease patients, advocates and caregivers, and helps organizations become research-ready and promote equity in healthcare. It's an opportunity to connect with fellow advocates and friends, to learn from the top experts and revel in meaningful connections. You'll find friends that will feel like family and leave feeling inspired, empowered and ready to take on the world. There's something for everyone!
Also, a COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental Meeting on Saturday!

Who is already registered??

08/19/2024

Families are done with hearing "wait and see," "they'll catch up," or "it's too expensive." These dismissive phrases undermine the urgency and power of early diagnosis. The reality is, families deserve to know - because knowledge is power. A diagnosis isn't just a label - it’s a beaming gateway to understanding, treatment, community and a world of possibilities.

Read this new publication about a fellow CTNNB1 mom who, instead of waiting for the system, took matters into her own hands with direct-to-consumer genetic testing. The result? She unlocked crucial intensive therapies for her daughter at the most critical time, securing mobility that many of our kids never get to experience. Her daughter was checked for FEVR before blindness could set in and checked for tethered cords before severe complications arose. Her proactive approach didn't stop there - she attended our international conference, learned about gene therapy, connected with families, and has raised funds for research - all in a matter of months.
This is why a diagnosis matters. It’s why parents are no longer willing to be passive. They're informed, they're capable, and they can handle anything that comes their way. That's one of the things that Once Upon a Gene is all about - empowering families with the knowledge they need to take control and change the status quo.
Sequencing
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.32108?domain=author&token=ZTDPMBPZNDMV67FZH8AI

07/31/2024

Our RAREcast podcast has officially hit 500 episodes! That’s 500 opportunities to:
🔊 learn more about the intersection of rare disease with business, science, and policy.
🔊 hear about others experiences with rare disease
🔊 think about your everyday involvement and understanding of the rare disease community and beyond

And this is a special episode! Joining us is Effie Parks, host of the Once Upon A Gene podcast, to talk about her journey as a mother of a child with a rare disease, recent efforts to navigate the experience, and her effort to map the journey with “Effie’s Roadmap.”

Listen now wherever you get your podcasts! 🎙️

07/26/2024

Don't miss this one!!!!!!

Finding resources and organizing information are two common strug

06/28/2024

Help our friends and cast a quick bite please !

Urgent 🚨Only 2 Hours Left to Vote!🚨

Help Manisha Win $20,000 to help Kids with INAD!

Manisha pledges to donate the $20,000 prize to the INADcure Foundation's gene therapy program if she wins.

VOTE NOW: https://mshealthandfit.com/2024/manisha-panwala

📣 PLEASE SHARE THIS POST and ask your friends to vote too!

Thank you for your support!

06/25/2024

It is the time of year when we have the opportunity to celebrate the heroes among us. Global Genes has nominated a humbling group of individuals that have made this world a better place for the 2024 RARE Champion of Hope Award.

Rachel Forest Heilmann is a bereaved mother that channeled the crippling grief of losing a child into helping others with rare disease.

Effie Parks is a walking dose of serotonin. It takes serious effort not to smile around her or while listening to her Once Upon A Gene podcast.

Cure Gaba A Variants is a “newly” formed nonprofit and I use the quotations because of their lightning progress. Monica Elnekaveh and Agustina Fernández Giambruno know each patient by name and need. They have built a powerhouse of innovation.

The Rare Village and Kasey Will Woleben. Kasey’s passion is to ensure every rare disease family has the chance to fight. Rare Village provides all non-profit infrastructure so families can focus on their loved ones and mobilizing to advance research.

Lastly, Terry Jo Vetters Bichell is the person I am trying to grow up and become.

Congratulations nominees!

05/01/2024

Exciting news—our anthology, We Are Brave Together, is out now! Treat yourself this Mother's Day to a collection of heartfelt stories from moms of medically complex kids. These powerful stories will resonate deeply, making you feel instantly connected to new best friends—those who've been there for late-night texts, laughs, and tears. Grab your copy today! 📘

https://a.co/d/795A8QE