State recognises rare disease
ZACHARY Conway (4) and his family hope acknowledgment of Pitt-Hopkins Syndrome Awareness Day in WA will lead to a faster and more accurate diagnoses of the rare disease.
Mt Lawley MLA Simon Millman and Health Minister Roger Cook acknowledged the day in State Parliament on September 18.
Zachary’s mother Kassie Conway said it was great to have the syndrome recognised to increase awareness of the disease.
“We found it really hard to get Zachary diagnosed because he could fit under a few different things and so I just think the more people are aware of it, it’ll make it a little easier for the next person to get diagnosed,” she said.
Pitt-Hopkins syndrome is a genetic condition characterised by developmental delay, breathing problems, seizures, gastrointestinal issues, lack of speech and distinctive facial features.
Mrs Conway said the syndrome was discovered by two Australian scientists in the 1970s, but they could not diagnose the disease with a blood test until 2007.
“It’s really new and that’s why I think some kids are probably misdiagnosed or undiagnosed,” she said.
According to the Pitt Hopkins Research Foundation, there are about 1000 diagnosed cases worldwide.
Mrs Conway said the diagnosis helped them know what to expect medically and to access the right funding.