Mix of rare diseases takes toll on family

A Whangarei woman said it took hundreds of doctors nearly 30 years to diagnose her daughter with a combination of rare diseases thought to have never been seen in New Zealand before.

Christine Sharp said her daughter Joanne Sharp suffers from 22q11.2 deletion syndrome, a disorder meaning part of her chromosome 22 is missing, Bernard-Soulier syndrome, a blood disorder, and polycystic syndrome, which causes cysts to grow on her organs.

Today is international Rare Disease Day and Mrs Sharp is hoping it will give her the opportunity to connect with other carers of people with rare diseases.

Joanne's 22q11.2 deletion syndrome is thought to be the cause of the other syndromes.

She's 38 years old and was only diagnosed with 22q11.2 deletion syndrome five years ago.

Mrs Sharp has cared full-time for her daughter's whole life, and said now, at 63 years old, it is catching up with her.

"It's the daily grind that gets you down. We can't seem to get ahead," she said.

Mrs Sharp and her husband Morris have had to sell their home after mortgage repayments as well as medical bills became too much for the retired couple.

Bernard-Soulier syndrome causes bleeding, and Ms Sharp suffered a major bleeding on the brain in May. It has been a long road back to recovery and many trips to Auckland Hospital.

Mrs Sharp receives the caregiver benefit and her husband gets the pension.

She thinks because her daughter's condition is so rare their case falls through the system when they apply for additional help.

"There are huge strains on the financial side and the social side. But we try to remain positive. She has had to fight to live since the word go. We felt like terrible parents not being able to afford anything for her at Christmas."

A New York-based specialist on 22q11.2 deletion syndrome holds Skype calls with sufferers and their families and Mrs Sharp said she would love to be able to talk to him but can't afford a computer.

"I'd like to know what lies ahead."

- Northern Advocate

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