CTNNB1 Connect and Cure

Forward Together - 2026 Conference Update with Emily Amerson

Mon, 07 Sep 2026 09:00:00 -0500

In this episode Toni talks with CTNNB1 Connect & Cure President Emily Amerson about the upcoming conference in Boston. They discuss what to expect at this year's conference, including the Natural History Study, Biorepository samples, family activities, exciting research updates, and family connection. There is so much to look forward to as our community comes together to learn, connect and keep moving forward together!

https://www.curectnnb1.org/
#raredisease
#syndrome

Meet the Newest Board Members for CTNNB1 Connect & Cure

Sat, 01 Aug 2026 00:00:00 -0500

In this episode we get to know the newest members of the CTNNB1 Connect & Cure Board of Directors! Host Toni Paes talks with Ashley Hamic, Chief Operating Officer and Secretary, Anita Chang, Treasurer and Luke Dreckman, Co-Director of Fundraising. They discuss their families' CTNNB1 journeys, the professional experience they bring to the organization, and their vision for strengthening support, advancing research, and building an even stronger community together.

https://www.curectnnb1.org/
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Diana O'Mara - Fundraising for the Future of CTNNB1

Wed, 01 Jul 2026 00:00:00 -0500

In this episode, Toni talks with Diana O'Mara about how her desire to make a difference has grown into an incredible annual fundraising event. Diana shares the inspiration behind the fundraiser, practical tips for families interested in organizing their own events, and the impact that coming together can have—not only on research, but on the entire CTNNB1 community. This conversation provides hope, practical ideas and a reminder that every effort, big or small, helps move us closer to a cure.

https://www.curectnnb1.org/
#raredisease
#syndrome

Estate Planning for CTNNB1 Families with Brenton McWilliams

Mon, 01 Jun 2026 00:00:00 -0500

In this episode, host Toni Paes talks with estate planning attorney and CTNNB1 parent Brenton McWilliams about how families can begin planning for the future of their children with special needs. In this reassuring and practical conversation, they discuss where families should start, how to avoid common mistakes, and why having something in place is far better than waiting for the “perfect” plan.

Whether you are just beginning your journey or have been putting these conversations off for years, this episode offers practical guidance, encouragement, and peace of mind for CTNNB1 families planning beyond their lifetime.

https://brentonmcwilliams.com

SKDEAS Education Series: Beyond Your Lifetime: Estate Planning for Special Needs Parents/Caregivers

https://www.curectnnb1.org/
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Holiday Stress & Support with Stephanie Babcock

Fri, 12 Dec 2025 00:00:00 -0600

Surviving the Season: Holiday Stress, Support, and Strength in the CTNNB1 Community

In this episode, Toni sits down with licensed clinical social worker and CTNNB1 mom, Stephanie Babcock to talk about her family’s diagnosis journey, early intervention, and life with her son Jack. Stephanie shares practical, compassionate strategies for managing stress during the holidays, explains the “feelings thermometer,” and offers a look inside the first CTNNB1 caregiver support group series. This heartfelt conversation reminds every caregiver that they are capable, resilient, and not alone.

https://www.curectnnb1.org/
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A Lifetime of Love with Jana Brown

Sat, 01 Nov 2025 00:00:00 -0500

In this inspiring episode, host Toni Paes sits down with Jana Brown, mom to 29-year-old Jared —one of the oldest known individuals living with CTNNB1 syndrome. Jana shares her family’s decades-long journey from early misdiagnoses to finally finding answers, the power of persistence, and the lessons learned along the way. From the impact of deep brain stimulation and service dogs to the importance of advocating for your child and yourself, Jana’s story is filled with resilience, humor, and heart. Whether you’re a newly diagnosed family or a long-time member of the CTNNB1 community, this conversation is a powerful reminder that, as Jana’s mother once said, “They’re the same child they were before the diagnosis.”

https://www.curectnnb1.org/
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Integrative Health with Fraser Bridgeman - Methylene Blue, Red Light Therapy, and Beyond

Mon, 15 Sep 2025 00:00:00 -0500

In this episode of the CTNNB1 Connect & Cure podcast, host Toni Paes welcomes back Fraser Bridgeman to delve into discussions about Methylene Blue and its potential benefits for individuals with CTNNB1-related conditions. Fraser shares insights from her personal experience as a parent and Integrative Health Practitioner, highlighting how various therapies, including red light therapy and supplements, can support mitochondrial function and alleviate some symptoms. The conversation also touches on crucial topics such as managing constipation and digestive issues, advocating for children's health, and the importance of personalized approaches. Parents are encouraged to explore these strategies while working closely with their healthcare providers to find the best solutions for their unique circumstances.

https://www.curectnnb1.org/
#raredisease
#syndrome

2025 Conference Update with Emily Amerson

Sun, 01 Jun 2025 00:00:00 -0500

President of CTNNB1 Connect & Cure, Emily Amerson and Toni sat down to discuss all the details of the 2025 CTNNB1 Connect & Cure Conference in Boston, Massachusetts happening on July 10 - 12. Listen in to hear all the information on what to expect at the conference. They discuss the agenda, childcare, activities, meals, research opportunities and where to get more information.

Conference Website:

2025 CTNNB1 Conference – CTNNB1 Connect & Cure

Research Website:

Participate in Research – CTNNB1 Connect & Cure

Natural History Study Questions:

Jessica.Waxler@childrens.havard.edu

https://www.curectnnb1.org/
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Introducing Director of Fundraising Crawford McWilliams

Thu, 15 May 2025 12:00:00 -0500

Welcome Crawford McWilliams, our new CTNNB1 Connect & Cure Director of Fundraising. In this episode we get to know Crawford and her family, including her dragonfly Shreve. We discuss her fundraising efforts so far with CTNNB1, as well as some great ideas she has for future endeavors.

https://www.curectnnb1.org/
#raredisease
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Speech Therapy with Megan Stanley

Thu, 01 May 2025 00:00:00 -0500

Megan Stanley is a Pediatric Speech and Language Pathologist, as well as mom to dragonfly Lilliana. With her unique perspective as both a clinician and a parent, Megan brings a heartfelt and informed voice to our community. In this episode, she shares her family’s journey with CTNNB1, and how her professional background in speech therapy has shaped her approach to care and advocacy.

MeganStanley392@gmail.com

https://youtu.be/b8lCCPP_s1Y?si=eURpndBKux_zuIu1

https://www.curectnnb1.org/
#raredisease
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Intensive Therapy at Jd McCarty Center with Dan & Toni

Tue, 15 Apr 2025 00:00:00 -0500

Bella recently completed a 3-week Intensive Therapy session at the JD McCarty Center in Norman, Oklahoma. Dan and Toni discuss the experience and what it was like for anyone else who may be interested. They also discuss some additional resources for therapies.

Intensive Therapy Links

Private Facebook Group: Pediatric Therapies Intensive Connections

Therapy Intensives in the USA - Google Drive

Therapy Intensive Funding Organizations in the USA

Therapy Intensive Housing in the USA - Google Drive

Find DMI Therapy Near Me - MyProviders

NAPA Center I World-Renowned Pediatric Therapy

Welcome to the J.D. McCarty Center | J. D. McCarty Center

https://www.curectnnb1.org/
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ABA Therapy with Caitlin Powderly

Tue, 01 Apr 2025 11:00:00 -0500

Caitlin Powderly is a Board-Certified Behavior Analyst (BCBA) and mom to Tyler, who has CTNNB1 syndrome. She and I talked about how Tyler came into her life, and the impact that has had on her professional life. She explained what types of things to look for in Applied Behavior Analysis (ABA) Therapy and red flags to look for. Caitlin also provided some helpful resources for families who are dealing with self-injurious behaviors in their children. If you have questions, Caitlin is happy to help answer them!

Caitlin.Powderly@gmail.com

Helpful Links:

Trauma Informed Care, Restraint Free Approach - Ukeru Systems®

*Caitlin recommends Ukeru first, as it is Trauma-Informed & Restraint-Free*

Create a Safer Workplace with De-escalation Training | CPI

Safety-Care Crisis Prevention Training for PBIS & ABA Environments | QBS

Safety Crisis Management Training-Professional Crisis Management

Training that Emphasizes Safety, Consistency, and Restraints as a Last Resort | Crisis Prevention Institute (CPI)

https://www.curectnnb1.org/
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#syndrome

NORD Breakthrough Summit Recap with Ashley Swift

Sat, 08 Mar 2025 13:00:00 -0600

Ashley Swift is the Chief Communications Officer for CTNNB1 Connect & Cure, as well as mom to dragonfly Evelyn. In October of 2024, Ashley was able to attend the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, DC. She shared with me her experience at the conference, as well as the impact families make when they provide data for our Natural History Study.

Home - NORD Rare Summit

https://www.curectnnb1.org/
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Life with Multiple Diagnosis

Thu, 30 Jan 2025 12:00:00 -0600

So many of our kids have a common connection, CTNNB1, but many of our kids have more than just CTNNB1. I interview Kelley Merwin about her son's multiple diagnosis and what she does for self-care. Kelley talks about the process she went through to find her son's diagnosis and also how his other diagnosis have come into play with caring for her son. Take a listen as Kelley shares the story of how she manages her son's needs and also her own.

https://www.curectnnb1.org/
#raredisease
#syndrome

Thanksgiving Episode

Mon, 25 Nov 2024 21:00:00 -0600

Annie, Dan and I were able to take a little time to catch up before the holidays start. We reflect on what makes Thanksgiving different with our CTNNB1 children and how we navigate that. We also spent some time talking about what we are thankful for this year. Our kids allow for a unique view of the world around us and we feel grateful to experience it with them. Please enjoy our Thanksgiving Episode.

https://www.curectnnb1.org/
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Global Genes Week in RARE Recap with Ashley Hamic

Fri, 15 Nov 2024 14:00:00 -0600

Every year Global Genes hosts a Week in RARE, which combines the RARE Health Equity Forum and RARE Advocacy Summit. This conference gathers and engage rare disease advocates and leaders in the same space for conversation. This year's conference was in Kansas City, MO.

I had the privilege of volunteering at the CTNNB1 Connect & Cure booth, to share information about CTNNB1 syndrome with attendees. Also attending this year was Ashley Hamic. Ashley is a CTNNB1 mom, an advocate and founder of Wish Wear Accessories. She agreed to come on the podcast to tell us about her experience and the most impactful sessions she attended. We hope you will enjoy hearing about her time at Week in Rare.

https://www.curectnnb1.org/
#raredisease
#syndrome

IEPs with Keely Ward

Tue, 15 Oct 2024 09:00:00 -0500

Many of us with children in the US school system have probably heard the term IEP. This Individualized Education Program (IEP), regulated by the US Department of Education, is for each public-school child who receives special education and related services.
IEPs can be intimidating, and it can be difficult to know all of our rights as caregivers. I sat down to talk with CTNNB1 mom and Educational Diagnostician, Keely Ward to learn more. She dives into the process of requesting and reevaluating an IEP, what goes into them, as well as some tips that can be helpful for parents and guardians navigating the system. We hope in this conversation you will learn something new and feel more confident going into your next IEP meeting!

https://www.curectnnb1.org/
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Welcome to new host Dan Stevens and Toni Paes

Mon, 16 Sep 2024 07:00:00 -0500

Welcome back to the Connect and Cure Podcast! I’m thrilled to have you here today. Producing this podcast has been a deeply rewarding journey, however it’s a lot to do alone. To make sure I’m bringing you the best content and perspectives, I’ve spent the past few months reaching out to parents in our community who can bring their valuable insights to the show.

I’m beyond excited to introduce you to our two new team members today. Toni and Dan are both passionate, dedicated, and ready to share their experiences and knowledge with you.

In this episode, we’ll be diving into how the new school year is shaping up for our families, the challenges we’re facing, and the triumphs we're celebrating. We hope our stories resonate with you and that you find connections on the journey we're sharing.

https://www.curectnnb1.org/
#raredisease
#syndrome

CTNNB1 Sibshop with Abby Turnwald

Wed, 20 Mar 2024 14:00:00 -0500

Shortly after Preston’s diagnosis I learned about Sibshops. Sibshops are in person or virtual events where special needs siblings will meet other sibs, have fun, laugh, talk about the good and not-so-good parts of having a sib with special needs, play some great games, learn something about the services their brothers and sister receive, and have some more fun.
During Covid I had the opportunity to take the facilitator training and have since started Sibshops in our area locally. It's a dream of mine to bring them to our CTNNB1 community virtually. Abby Turnwald, genetic counselor at Cincinnati Children's, reached out wanting to get involved within our community by volunteering her time. She too is a trained Sibshops facilitator and is bringing Sibshops to our community next month! Listen in today to meet her and watch for a link to get your children signed up!

https://www.curectnnb1.org/
#raredisease
#syndrome

NAPA Intensive Therapy Program with Chrissy Johnston

Sun, 15 Oct 2023 10:00:00 -0500

If you are on Facebook or Instagram I am sure you have seen many of our CTNNB1 children at NAPA, but if any of you are like me you’ve wondered what is it? What do they do there? How do I get my child there?

NAPA stands for Neurological and Physical Abilitation Center. They have several locations across the US in Los Angeles, Boston, Austin, Denver, and Chicago. They also have locations in Sydney, Melbourne, Brisbane, and London. If you check out their website, you’ll learn NAPA is dedicated to delivering innovative intensive therapy services to children with a variety of neurological and developmental needs. They embrace each child’s differences and work with them to overcome their unique challenges. They do this by designing individualized intensive therapy programs with unique combinations of speech, physical, occupational and other innovative therapies.

We have had several CTNNB1 families attend NAPA and today I sat down with my long time friend and CTNNB1 mom, Chrissy, to learn more.

https://napacenter.org/

https://www.curectnnb1.org/
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Building an accessible home with Jenny Schroer

Wed, 30 Aug 2023 07:00:00 -0500

Today I sat down to talk with Jenny, CTNNB1 mom of Miles. They were given the opportunity to build not only an accessible home for their son, but a forever home for themselves. I think this is incredible because I’ve recently learned, according to the CDC, 27% of Americans alone live with a disability, a majority requiring the use of a wheelchair or other mobility device. How amazing would it be to build a home where everyone is welcome? But where would you start? If you can’t build, could you add some accommodations? Jenny shares their building journey with us and gives many ideas and tips. Maybe someday you’ll have a similar opportunity, if so, after hearing from her you’ll know where to start.

https://www.curectnnb1.org/
#raredisease
#syndrome

Fundraising with Lindsay Stevens

Thu, 03 Aug 2023 13:00:00 -0500

We all know we won’t be able to keep pushing forward without funding, but it’s not always something fun or easy to talk about. If you are looking to start a fundraiser, listen in for some ideas. If it’s not your time, don’t worry, we understand. And if you have already done a fundraiser or donated to someone else's', thank you!

Lindsay Stevens, CTNNB1 mom of Lark, shares her fundraising expertise with us today. Please reach out to her directly for any questions or help lindsayannstevens@gmail.com

https://www.curectnnb1.org/
#raredisease
#syndrome

Diet and Exercise with Tony and Natasha King

Mon, 10 Jul 2023 22:00:00 -0500

Tony and Natasha King spoke at our CTNNB1 conference last month. One of the topics that piqued a lot of interest was Tony Jr.’s diet and exercise program. In this episode, the Kings share how they took Tony Jr. to an Integrated Medicine doctor to get some help with his diet.

We are lucky to have Fraser Bridgeman, CTNNB1 mom and Health Recovery Coach, in our community. She has offered to help our CTNNB1 families with food sensitivity testing. It is done at home with a finger prick, and it will show you which foods you should avoid. She is also able to provide a mineral and vitamin level lab at cost for CTNNB1 children. You can reach out to her via Facebook or at fraserbridgeman.com for more information.

Mentioned in episode: Tony and Natasha did a training called interactive metronome. It's an auditory sensory training that is typically handled through occupational therapy. They did it at Nemours Children’s Hospital in Delaware.

https://www.curectnnb1.org/
#raredisease
#syndrome

CTNNB1 Connect and Cure Research Conference Update with Lauren Cochran

Sat, 17 Jun 2023 20:00:00 -0500

We are just a few short days away from the CTNNB1 Connect and Cure Research Conference at Drew University in Madison, New Jersey. So today I checked in with organizer Lauren Cochran to get any last minute details. All the information you need can be found HERE so make sure you check it out. This includes the agenda for the day- let me just say, our speaker line up is phenomenal, including Dr. Wendy Chung, from Columbia, and Dr. Michele Jacob from Tufts University. Also provided are maps, information on meals, transportation, parking, and kid activities. This is sure to be the most memorable three days together. Please enjoy this episode and conference information with Lauren Cochran.

https://www.curectnnb1.org/
#raredisease
#syndrome

Community update with Emily Amerson

Tue, 30 May 2023 14:00:00 -0500

There are so many things going on in our CTNNB1 community. Board member, Emily Amerson, discusses many things she has been working on and involved with. I don't think there is one thing this momma can't do. She has pushed us forward with our website and social media, and she's working on so many different projects and ideas- a welcome letter, brochure, Ciitizen, and Probably Genetic, just to name a few. You can definitely tell serving our CTNNB1 community is her new found passion and purpose, it's shining through with her work on the board. We are so blessed to have her as part of our team.

emily@curectnnb1.org
https://www.probablygenetic.com/
https://www.ciitizen.com/rarenetwork/CTNNB1Connect

https://www.curectnnb1.org/
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Tackling tough topics with Renee Cunningham

Sun, 07 May 2023 22:00:00 -0500

CTNNB1 mom Renee Cunningham tackles some tough topics. Renee shares why they decided to put her daughter on medicine and about puberty with her daughter. We are not giving medical advice, just sharing one parent’s struggle to make difficult decisions for her child. As we wrapped up we talked about summer plans. I think this is a stressor for many of our families. Our children are used to keeping busy with routines and structures and summer can be overwhelming for many of us. My own fear has always kept me from sending Preston to camp. After hearing Renee talk so passionately about summer camp she has inspired me to look into it for Preston. I hope everyone hearing her story today, will be inspired too.

https://www.curectnnb1.org/
#raredisease
#syndrome

To travel or not to travel with Julie Anderson

Thu, 27 Apr 2023 21:00:00 -0500

To travel or not to travel has been the question lately on our family Facebook page. Many families understandably decide not to travel, it’s just not worth the stress. In March there was the first international CTNNB1 conference in Madrid, Spain. When I saw Julie Anderson was attending, flying in from New Jersey, I knew I had to hear about her adventure there. Her passion for traveling has long been a part of her life. She knows they’ve had to adapt, and it’s not easy as it used to be, however she is still determined to keep it a part of her life.

https://www.curectnnb1.org/
#raredisease
#syndrome

Marriage and Special Needs Parenting with Jessica and Jason Robinson and Chad Wood

Mon, 17 Apr 2023 22:00:00 -0500

I am excited to have my husband Chad joining me for the first time on today’s episode. We sat down with CTNNB1 parents Jason and Jessica Robinson to discuss marriage with a child that has special needs. If you were to google special needs parenting and marriage statistics it could really scare you. First of all, the numbers are not consistent, and are all over the place. However some sites and studies will tell you that the divorce rate of parents with special needs children is as high as 80%. I don’t think we need a study to validate that marriage is hard, and raising a child with needs that are special adds to the difficulty. If I were a young couple who just gave birth to a child that has needs that were special I would be very concerned and nervous about the future. We are here to tell you today, it doesn’t have to be that way. Give each other grace, say you're sorry, and forgive as soon as possible.

https://www.curectnnb1.org/
#raredisease
#syndrome

The power of a diagnosis with Ashley Swift

Mon, 03 Apr 2023 18:00:00 -0500

CTNNB1 mom, Ashley Swift, shares the incredible story of how her daughter was misdiagnosed with Cerebral Palsy. She even went against one doctor's recommendation and got her daughter, Evelyn, genetic testing. Hear about the power of finding the right diagnosis and how it has helped her daughter in so many ways.

(A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that ONE-QUARTER of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of all diagnoses) in a group of 1345 individuals analyzed.)

https://www.curectnnb1.org/
#raredisease
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Moving Mountains with CTNNB1 mom Megan Hieb

Tue, 21 Mar 2023 10:00:00 -0500

Meet CTNNB1 mom, Megan Hieb. For her daughter Lucy's first birthday she decided to do a GoFundMe page that has made over $112,000 for CTNNB1. See her video at https://www.youtube.com/watch?v=ei3uEtG5n-M.

Megan mentions in our podcast that she donated her fundraising money to the CTNNB1 Foundation. The CTNNB1 Foundation is based out of Slovenia, and was started by Špela, mother of Urban, who has CTNNB1. The goal of this foundation is to develop a gene therapy to cure CTNNB1 Syndrome. In just a few short days Špela is hosting the very first CTNNB1 International Conference in Spain. If you aren’t able to make the trip, you can join her conference virtually by registering online. https://ctnnb1-conference.org/register.php

CTNNB1 Connect and Cure is a United States 501c3 non-profit. We are the product of joining two US based CTNNB1 organizations, CTNNB1 Syndrome Awareness Worldwide or CSAW and Advancing CTNNB1 Cures and Treatments or ACCT. We are focusing on a small molecule intervention for CTNNB1, as well as raising awareness and connecting affected families. CTNNB1 Connect and Cure is sponsoring the natural history study with Columbia University and hosting a research conference this June in New Jersey.
https://www.curectnnb1.org/get-involved/events/

Read more about CTNNB1 Connect and Cure here → https://www.curectnnb1.org/

Read more about the CTNNB1 Foundation here → https://ctnnb1-foundation.org/

https://www.curectnnb1.org/
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Mini episode with guest host Preston, age 12

Tue, 07 Mar 2023 07:00:00 -0600

This is what this is all about, our children. Please enjoy this mini episode as Preston, age 12, shares some of his feelings about having CTNNB1.

https://www.curectnnb1.org/
#raredisease
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Sometimes I feel like an imposter with Toni Paes

Mon, 06 Mar 2023 07:00:00 -0600

Toni Paes is a mother of four from Oklahoma. Her youngest Bella has CTNNB1. Even with all the experience and success she has had parenting her children, she still has days where she feels like an imposter. It's easy to feel this way when you're encouraging and supporting others, but struggling yourself. We've all been there. Please enjoy her honesty and vulnerability as she shares her parenting journey today.

https://www.curectnnb1.org/
#raredisease
#syndrome

Navigating the tough school years with Patrice Bradley

Thu, 23 Feb 2023 07:00:00 -0600

Patrice Bradley joins me today to share about her daughter Alyssa. Alyssa wasn't diagnosed with CTNNB1 until she was 13 years old. She is now 18 years old and a senior in high school. Patrice shares some real moments and advice about getting your child through the tough school years.

https://www.curectnnb1.org/
#raredisease
#syndrome

Single Parenting with Heather Murphy

Thu, 09 Feb 2023 19:00:00 -0600

CTNNB1 mom Heather Murphy joins me today to talk about parenting a rare child with special needs as a single mother: the difficulties it brings and tips on what has helped her.

https://www.curectnnb1.org/
#raredisease
#syndrome

Self care with Fraser Bridgeman

Tue, 07 Feb 2023 06:00:00 -0600

I’m excited to have another CTNNB1 mom on with me today. Fraser, mom of Makayla, is a Health Recovery Coach, Integrative Health Practitioner & has a Kids Natural health Podcast. Follow Fraser Bridgeman on Facebook for many tips and information on living a healthy life.

https://www.curectnnb1.org/
#raredisease
#syndrome

CTNNB1 Connect and Cure Board Update

Mon, 30 Jan 2023 21:00:00 -0600

https://www.curectnnb1.org/
#raredisease
#syndrome

June 2023 Research Conference Information with Lauren Cochran

Sat, 21 Jan 2023 09:00:00 -0600

https://www.curectnnb1.org/
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Connections

Mon, 16 Jan 2023 22:00:00 -0600

https://www.curectnnb1.org/
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Meet Your Host

Sun, 08 Jan 2023 22:00:00 -0600

https://www.curectnnb1.org/
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CTNNB1 Connect and Cure Trailer

Sat, 24 Dec 2022 12:00:00 -0600

https://www.curectnnb1.org/
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