Rare disease hits family twice
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.