I have this feel­ing that a lot of peo­ple haven’t been di­ag­nosed with Gaucher. It def­i­nitely was the first we had heard of it. We’ve got no fam­ily his­tory, we don’t know where it’s come from. It could hap­pen to any­one

The Riverine Herald - - GAME ON SUMMER -

tests con­firmed she also had Gaucher dis­ease.

De­spite all this, Ni­cole still man­ages to find some strength and pos­i­tiv­ity.

“We are for­tu­nate enough that the girls live with type 1 Gauch­ers, which means they aren’t re­stricted too much,” she said.

“As our girls have type 1, their week is the ex­act same as ev­ery­one else’s.

“Some­times they can get a bit more tired than usual and do seem to get a few more com­mon colds than nor­mal, but other than that they are just like any other four- and one-year-old.”

Oc­to­ber is Gaucher Aware­ness Month, and it was only fit­ting Ni­cole and the girls re­ceived some good news.

Last week, 15-year-old rare dis­ease cam­paigner and ac­tivist Gi­don Good­man and his mother, Karen Good­man, of­fi­cially launched a new pa­tient sup­port or­gan­i­sa­tion to the com­mu­nity, called the Gaucher As­so­ci­a­tion of Aus­tralia and New Zealand.

Karen hopes the launch of the new or­gan­i­sa­tion will im­prove ac­cess to ser­vices and care for those im­pacted by the rare dis­ease, and pro­vide a plat­form to share lo­cal per­spec­tives, sup­port and re­sources.

“The foun­da­tion Gi­don has launched will be a great source of in­for­ma­tion for me and the girls in the fu­ture, so we can keep up­dated with new re­search and find­ings as Gauch­ers be­comes more known,” Ni­cole said.

While the girls aren’t let­ting the dis­ease dampen their spir­its, Lexi and Ni­cole have to make fort­nightly trips to the Royal Chil­dren’s Hospi­tal in Melbourne.

They head down on a Tues­day and back to Tongala again on Wed­nes­day so Lexi can re­ceive in­fu­sions of en­zyme re­place­ment ther­apy.

Demi is still too young to re­ceive treat­ment but once her lev­els peak she will tran­si­tion onto the med­i­ca­tion.

“I have this feel­ing that a lot of peo­ple haven’t been di­ag­nosed with Gaucher,” Ni­cole said. “It def­i­nitely was the first we had heard of it.

“We’ve got no fam­ily his­tory, we don’t know where it’s come from. It could hap­pen to any­one.”

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