Media release: Family hopeful of receiving rare disease drug available all over the world

14 August 2018

Elizabeth’s family has Fabry disease, a rare genetic disorder that leads to a shortage of an essential enzyme, which then causes damage to the heart, lungs, kidneys, skin, stomach and brain.

Two of her sons live in Australia and are eligible for Enzyme Replacement Therapy (ERT), while Elizabeth’s other son in Auckland is unable to access this life-changing medication.

“The disparity between countries means that my two sons in Australia have access to treatment, while my son James, like other Kiwis, does not,” says Elizabeth.

Now Elizabeth is hopeful that PHARMAC will finally fund suitable treatment for the estimated 35 Fabry patients in New Zealand. ERT has been available in Australia since 2004, and can also be accessed by patients in the UK and around 30 other countries.

PHARMAC is inviting pharmaceutical suppliers to submit funding applications for medicines for rare disorders. Applications close on Monday 3 September 2018 and will be considered by the Subcommittee in November.

“There are more than 7,000 rare disorders impacting over 377,000 New Zealanders all over the country,” says Chief Executive of New Zealand Organisation for Rare Disorders (NZORD) Dr Collette Bromhead.

“New Zealand is falling behind Australia and many other countries on treatment for these rare conditions, so we are very pleased that PHARMAC has initiated this invitation for medicines.”

Elizabeth has set up a Fabry Support Group to connect with other New Zealand families with the same condition.