Dianne Linnehan, Director of Operations of the Phelan-McDermid Syndrome Foundation is also the parent of a person with Phelan-McDermid syndrome, and as she explains in this interview, her daughter provides her with immeasurable strength and joy, despite the rare disease that afflicts her.

Phelan-McDermid syndrome is a rare genetic condition due to mutations in chromosome 22. In most cases, the mutations are de novo and the variety of mutations leads to a large array of symptoms and their severity. A common set of symptoms, however, are intellectual and behavioural patterns that can mimic those seen in autism.

Linnehan said, “It is very very challenging for families to take care of them – we can’t forget that – but they are also delightful, and they are the most pure human beings on the face of the earth.”

Linnehan, added, “When I look at how much work the families do and just the sheer love that comes within the family units,  the brothers and sisters, become incredible human beings.”

For more information, visit www.pmsf.org/

 

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