O’Connor Family: Sidney & International Day of Recognition for PTHS
International Day of Recognition for Pitt Hopkins, September 18, 2013
By Taylor Hammerl | September 18, 2013
Permalink – International Day of Recognition for Pitt Hopkins
Imagine a life in which your child is unable to walk or speak. A life in which you can’t begin to know what your child is thinking or feeling. Parents of children affected by Pitt Hopkins Syndrome live this life every day. But after years of uncertainty, scientists and researchers are providing hope to these families. And it all starts with awareness.
Today, September 18th, is the first International Day of Recognition for Pitt Hopkins Syndrome. Pitt Hopkins is a rare neurodevelopmental disorder caused by a spontaneous mutation on the 18th chromosome. While many of us can’t be sure exactly what that means, hundreds of families understand it all too well.
The Day of Recognition is supported by the Pitt Hopkins Research Foundation (PHRF).
Their mission is to support research dedicated to finding a treatment and eventually a cure for Pitt Hopkins and other similar disorders.
Quicken Loans team member, Jennifer O’Connor and her 13 year-old daughter are familiar with the effects of Pitt Hopkins. After years of failed diagnostics, Jennifer is finally getting some answers about her daughter’s potential diagnosis and she finally has hope for progressive therapy and treatment. Jennifer’s wish:
“All I want is for her to say I love you and give me a hug.”
To date, more than 250 people have been diagnosed with Pitt Hopkins. And with the recent discovery of the gene in 2007, there are likely many more that remain undiagnosed.
If you would like to join us in raising our level of awareness, check out www.pitthopkins.orgto learn more about living with Pitt Hopkins and ways to support the foundation!
