CTNNB1 Connect and Cure

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...

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....

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 th...

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...

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 suppl...

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...

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 #syndrome

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.  MeganStanley...

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 Th...

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 deali...

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.  Hom...

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 s...

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 Epis...

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 a...

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 Educationa...

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 t...

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...

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...

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 t...

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...

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...

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. Wend...

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...

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 b...

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 be...