KMBC 9: Kansas City parents become advocates for families dealing with rare diseases
By Donna Pitman
Patrick and Laura Sargent are members of a club no one joins by choice: The Rare Disease Community.
“Having that first diagnosis is life-changing for any parent,” Patrick Sargent said.
The parents both recall the moment things changed for the young family. Fifteen months after their daughter Maddie Sargent was born, they learned she had a rare condition called Angelman Syndrome.
She’s missing a specific gene which means speech, movement, sight and learning will be difficult.
The diagnosis was challenging but also isolating.
The Sargents are changing that now by helping fund The Angelman Syndrome Clinic at Children’s Mercy Hospital, led by Child Neurologist Dr. Jean-Baptiste Le Pichon.
“The child with Angelman Syndrome has specific needs, and unless you know the syndrome well, you may not be aware of it," The doctor said. "[The clinic] will address issues such as gastrointestinal issues, emotional issues, neurological issues, orthopedic issues."
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Children's Mercy Angelman Syndrome Clinic