Media release: Rare Disease Day 2019 - Rare is Everywhere

Evie was diagnosed with a recessive autosomal genetic condition named Infantile Hypotonia Psychomotor Retardation Facies Type 1 (IHPRF Type 1). As one of only 12 people globally with this rare genetic condition, Evie’s life path is different to most children her age. Without much information available on her condition, Evie’s family are unsure of what to expect for her future.

“Whilst life isn’t what we expected it would be for Evie, we (and a lot of other people), love her just the way she is,” says Evie’s Mum Polly.

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Chief Executive of the New Zealand Organisation for Rare Disorders (NZORD), Dr Collette Bromhead says that more than 377,000 Kiwis are affected by a rare disorder.

“The number of New Zealanders who have a rare disease is higher than those with diabetes. There are between 5,000-8,000 different rare conditions known, and while individually these disorders are uncommon, collectively they affect 8% of our population. This is the paradox of rarity.”

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“NZORD advocates for and supports families like these every day,” says Dr Bromhead. “We help patients negotiate the many common challenges they face from difficulty in getting a diagnosis to campaigning for specialist medicines and treatments.

“There needs to be greater recognition of rare diseases as one of the significant health challenges of our time, and a focus on ensuring patients receive access to timely treatments to ensure they not only survive but can enjoy a better quality of life.”

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