Feb 28, 2019, 9:52 AM

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.

Evie, together with Preston, Sarah and Jethro are four unique New Zealanders sharing their stories to raise awareness about rare diseases and the impact they have on patients and families as part of international Rare Disease Day on 28 February.

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.”

This diversity is reflected in our Rare Disease Day families and their stories: rugby-loving six-year-old Preston from Greymouth lives with Fragile X syndrome; Sarah from Auckland who is studying at university while dealing with the challenges of a rare neurological disorder; and teenager Jethro from Balclutha who shares a rare condition called hereditary angioedema with his dad.

“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.”

Read Evie, Preston, Sarah and Jethro’s stories and find out what you can do to help at rarediseaseday.org.nz

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