Rare dis­ease hits fam­ily twice

The Riverine Herald - - GAME ON SUMMER - By Michael Mat­tingly

NI­COLE Tanner hadn’t heard of Gaucher dis­ease un­til it was right on her doorstep.

In fact, be­fore her first-born daugh­ter was di­ag­nosed with Gaucher, the Tongala mother didn’t even know it ex­isted. And not many peo­ple do. Gaucher dis­ease is an in­cred­i­bly rare ge­netic con­di­tion thought to af­fect one in 57,000 live births in Aus­tralia.

For those liv­ing with Gauch­ers, the en­zyme re­spon­si­ble for break­ing down fat cells in the body is ei­ther miss­ing or de­fi­cient.

If it isn’t treated accordingly, this can cause fat cells to build up in the liver, spleen and bone mar­row.

This can quickly re­sult in se­ri­ous health com­pli­ca­tions, and in ex­treme cases, death.

Ni­cole’s two daugh­ters, Lexi, 4, and Demi, 1, both live with type 1 Gaucher dis­ease.

Lexi was di­ag­nosed with the dis­ease when she was just two-and-a-half years old.

A reg­u­lar check-up at the GP for a ch­est in­fec­tion quickly turned so much more when the doc­tor no­ticed Lexi had a swollen stom­ach.

Things moved quickly and an ul­tra­sound later con­firmed her liver and spleen were en­larged.

Af­ter a re­fer­ral to a pae­di­a­tri­cian for im­me­di­ate ex­am­i­na­tion, it was con­firmed Lexi had Gaucher dis­ease.

At the time, Ni­cole was five months preg­nant with her sec­ond daugh­ter, Demi.

One day af­ter Demi’s birth, blood

DOU­BLE DOSE: Lexi and Demi Tin­ning both have Gaucher dis­ease but are for­tu­nate it is not the worst va­ri­ety.

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