RARE Diagnosis: Angelman Syndrome, Episode 02

Join us today as we continue our conversation with Chelsea.  She provides us with information about Angelman Syndrome from a parent perspective and shares with us some wonderful resources which have been extremely helpful to/and for her and her family.

 

We also hear from Chelsea about some unique to Kenna health concerns that have plagued her for several months.  Chelsea describes what it was like trying to be the advocate Kenna needed.

 

Resources Mentioned:

FAST: Foundation for Angelman Syndrome Therapeutics:   (https://cureangelman.org/)

Angelman Syndrome Foundation: (https://www.angelman.org/)

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What is Angelman Syndrome?

Angelman syndrome (AS) is a rare disorder caused by the loss of function of a single gene and affects approximately 500,000 people worldwide.

Symptoms typically become noticeable around the age of 6-12 months and may include difficulty suckling and eating, gastrointestinal issues, delayed crawling and babbling, balance and motor impairment, and seizures. Some individuals never walk, and most do not speak. And while they require continuous care, they have a normal life expectancy and a distinctly happy demeanor, characterized by frequent laughing, smiling and excitability.

 

#AngelmanSyndrome #FAST #ASF #Genetics #RARE