**Encore Episode in honor of Rare Diseases Day** Introduction to PTEN Hamartoma Tumor Syndrome (PHTS)

I’m doing a little something different this week.  Monday is the last day in February, and whether it is a 28-day February or a 29-day February, the last day is recognized world wide as Rare Disease Day, the globally-coordinated movement on rare diseases, focused on working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.  A disease is considered rare if it affects fewer than one in 2000 people.  Collectively though, there are 7,000 rare diseases that impact over 300 million people globally. 
https://www.rarediseaseday.org/

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So welcome to an encore presentation of "Introduction to PHTS."

You just never know where a slice of pizza will take you.
For me, and today's guest, it was the beginning of a beautiful friendship.
Join me as I introduce you to one of the best humans around, Carla McDonald.  This is a conversation between two moms about parenting, advocating, learning, laughing, and more.

Carla's younger son is autistic and also has PTEN Hamartoma Tumor syndrome (PHTS), which is a rare genetic condition that causes an increased risk for certain cancers, benign growths, and neurodevelopmental disorders.  As many as 20% of patients with PHTS are also autistic.  By talking about this rare genetic condition, Carla hopes to spread awareness and knowledge so that children (and adults) can get the screenings needed to help  improve their well being.

For more information about PHTS visit:
https://ptenfoundation.org/

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