ZACHARY Conway (4) and his family are hoping the acknowledgment of Pitt Hopkins Syndrome Awareness Day in WA will lead to 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 Australia scientists in the 1970s, but they couldn’t 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 because a lot of people just aren’t aware of it,” 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.
“Medically, we know what to expect and things that he could be subject to like Pitt Hopkins comes with seizures, breathing problems and obviously intellectual disability and global development delay but then the other side of it is definitely funding and getting the right support,” she said.
“Most kids or adults with Pitt Hopkins don’t talk so communication is a huge barrier for them so knowing that beforehand we can really throw a lot of speech therapy at him and get an AAC (Augmentative and Alternative Communication) device.”
Mrs Conway also said the diagnoses also allowed them to form support networks with other families.
“I think just knowing and having that sense of community and being in touch with families living the same experience,” she said.
“You can’t pay money for that.”