Pitt Hopkins Awareness Day Coming Sept 18th
September 3, 2014
Organization: Pitt Hopkins Research Foundation
The Pitt Hopkins Research Foundation (PHRF) is proud to announce the celebration of its second annual International Day of Recognition for Pitt Hopkins Syndrome, a rare neurodevelopmental disorder caused by a spontaneous mutation on the 18th chromosome.
To bring further awareness to the 18th chromosome, we have chosen the 18th of September as our annual awareness day. Families and friends around the globe will celebrate children affected by Pitt Hopkins Syndrome and begin to expand recognition for the disorder and help raise awareness and funding for research towards a cure.
GOALS FOR AWARENESS DAY
On Sept. 18th, as we celebrate our children and all they have achieved we want to take the opportunity to introduce more people to the beauty and trials of living with Pitt Hopkins.
We want medical professionals, in particular pediatricians, to learn more about the symptoms and features (see below) so that they can refer their patients for genetic testing in a timely manner.
We want families with undiagnosed, developmentally delayed children to perhaps see in the faces of our children, something familiar. We want them to know there is new testing available–Whole Exome Sequencing –that just might be able to help them find the answers they’ve been searching for.
We want other professionals that work with children and their families with special needs, eg kindergarten teachers, special needs teachers, OTs , physiotherapists to know the symptoms and features.
We want any families who have been diagnosed to find our support group at www.pitthopkins.org and join us!
Check us out on Facebook and Twitter to help us celebrate our 2nd Annual Pitt Hopkins Awareness Day!
Sign up for updates straight to your inbox.