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
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.”