ALEXIA JOHNSTON

RARE CASE: Joanne Illingworth, 46, has NARP, a disease that attacks the nervous system. Despite its rarity, it is hereditary and her three siblings also contracted the disease.

Timaru woman Joanne Illingworth is likely to be one in a million, if not more.

Ms Illingworth, 46, suffers from neuropathy ataxia and retinitis pigmentosa (NARP), a disease that affects very few people in the world.

A report suggests the condition is so rare that its prevalence is unknown.

NARP, which is in the multiple sclerosis "family", attacks the nervous system, causing muscle weakness, numbness, tingling or pain in the arms and legs, and loss of balance and co-ordination.

Ms Illingworth had a normal start to life. As a young girl she would run around and play like other children.

However, at 13 all of that changed.

"I was sick in bed with the flu. I got out of bed and I collapsed on the ground because I couldn't feel anything." She was admitted to hospital, but then sent home without a diagnosis. It took another 17 years before she found out what she was suffering from.

Despite the rarity of NARP, it was to become a common condition in Ms Illingworth's family after her three younger siblings, including a half-sister, also contracted the disease, all within about three years of each other. Ms Illingworth was the first in the family to get the disease, a hereditary condition passed down by females.

Her brother has since died of NARP. Her two younger sisters live in Oamaru. The family does not know anyone else with the condition.

NARP affects people differently, depending on the severity of their case.

"It affects your eyes, your speech and I shake quite a lot," Ms Illingworth said.

Her life had been full of frustrations. People often assumed she was drunk because of the way she talked. Ms Illingworth had lost count of how many doctors she saw before getting a diagnosis, but she hoped her determination would inspire others.

Rare Disease Awareness Day will be marked tomorrow – leap day – one of the rarest days of the year. For more information about the day visit rarediseaseday.org.nz

- © Fairfax NZ News

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Rare disease strikes family