Dis­ease re­lief

Pinjarra Murray Times - - NEWS -

New oral medicine for patients with the rare con­di­tion Fabry dis­ease an­nounced.

FED­ERAL Health Min­is­ter Greg Hunt has an­nounced a new oral medicine for patients with the ul­tra-rare con­di­tion Fabry dis­ease.

Fabry dis­ease is a rare, ge­netic and po­ten­tially lifethreat­en­ing dis­ease in which peo­ple are miss­ing or do not have enough of a spe­cific en­zyme re­spon­si­ble for break­ing down fatty sub­stances.

The build-up can af­fect key or­gans such as the kid­neys and heart, po­ten­tially lead­ing to multi-or­gan fail­ure in­clud­ing kid­ney fail­ure, heart at­tack and stroke.

Halls Head’s Ta­nia McDon­ald has been re­ceiv­ing treat­ment through a clin­i­cal trial for seven years.

The 57-year-old was di­ag­nosed with Fabry dis­ease at 32, just af­ter her daugh­ter Cara, now 37, was di­ag­nosed.

Cara was just 12 years old when she de­vel­oped symptoms and, thanks to the only doc­tor in WA who knew of the dis­ease, she was di­ag­nosed, as was her mother soon af­ter.

Since child­hood, Mrs McDon­ald ex­pe­ri­enced burn­ing sen­sa­tions in her hands and feet and had al­ways felt there was some­thing wrong.

But as time passed her symptoms wors­ened, in­volv­ing prob­lems with her kid­ney and heart, in­tense pain, burn­ing sen­sa­tions, and an in­abil­ity to sweat, al­though she also ex­pe­ri­enced ex­ces­sive sweat­ing from her head.

In 2011, Mrs McDon­ald heard about a clin­i­cal trial for a new oral treat­ment for Fabry dis­ease and was de­ter­mined to be part of the trial and make her daugh­ter’s life sim­pler.

At the time, Cara could not take part but Mrs McDon­ald was ac­cepted, trav­el­ling to Ade­laide nine times in the first year for blood tests, kid­ney biop­sies and on­go­ing mon­i­tor­ing.

Mrs McDon­ald said Fabry dis­ease could be iso­lat­ing.

“Ev­ery­one says you look so well and they can’t be­lieve there is any­thing wrong with me,’’ she said.

Her hus­band Don­ald also acts as her carer.

“He’s my rock, he’s amaz­ing,” she said.

“I don’t know how any­one could do it with­out a part­ner.”

Ta­nia McDon­ald and grand­daugh­ter Luna.

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