Podcast Update!
Today we recorded episode two of our podcast, The Mobility Mindset with Trexo Robotics. Effie Parks, host of Once Upon A Gene podcast and rare disease advocate, as well as Mom to Ford, who has a rare disease called CTNNB1 syndrome.
Learn about why Effie started her podcast, as well as some great insights, tips and resources when the episode drops on February 18, 2025. You can find details here.
Sara & Marc, Trexo Specialists and parents of kiddos that use the device, are the hosts of our podcast. They quickly got into some great conversation with Effie. I was there listening, off camera. As they discussed some of the things parents of kiddos with rare disease or disability, have to ensure they do, it was hard for me to stay quiet. I was moved by the conversation and the reactions they had to each other. Once again I was reminded why I love my job and the people I meet through it.
CTNNB1 Syndrome
I wanted to take a minute to share a little information that I learned about CTNNB1 syndrome. As we have guests on the podcast and learn about new things, I want to share the info with you so you have that context when you watch the episode.
CTNNB1 syndrome is a rare genetic disorder caused by changes in the CTNNB1 gene. It is classified as a neurodevelopmental disorder, which typically alters or impedes growth and development of the brain and central nervous system.
Common signs and symptoms include:
- cognitive impairment, to varying degrees
- delays in reaching developmental milestones
- delays in speaking
- abnormal muscle tonevision impairments
- distinct facial features
- behavioral problems
Some of the differences in appearance are including a bulbous nose, the indentation that runs up from the upper lip to the nose is longer. A thin upper lip is also common.
Stay tuned for more podcast episodes, and information on our guests.
Recent Comments