State recog­nises rare dis­ease

Stirling Times - - NEWS - Madeleine Stephens

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.

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