Our Members - Their Stories

MDANZ members share their personal stories of living with a Muscular Dystrophy condition. 

Rolling with the punches and dancing to her own trumpet

12 January 2021
Melanie Louden

When Freda Evans was diagnosed with Pompe disease more than 30 years ago she decided then and there that the condition would not rule her life. Anything people said she couldn’t do, she has done – including travelling the world alone.

By Melanie Louden

Freda Evans was, when diagnosed, the only person with Pompe disease in New Zealand.

When Freda Evans was diagnosed with Pompe disease her reaction was a mix of happiness, sadness and determination.

After suffering bad headaches and weakness in her legs for a couple of years, tests and biopsies were carried out. When the doctor told the then 33-year-old she had Pompe disease, she said: “Okay, so what’s the cure?”

“Back then there was nothing, and there’s still nothing to this day,” says the now 65-year-old, who lives in Auckland.

“I went from being a normal person to being a unique person because I was the only one in New Zealand with Pompe.”

Pompe disease is a rare disease that damages muscle and nerve cells throughout the body. It leads to progressive muscle weakness, wheelchair dependence and breathing assistance.

“I felt happy that I had a diagnosis, but sad that I was probably going to die from it, and sad that there was nothing they could do for me, other than keep me comfortable."

Keeping Freda comfortable involved her being put on overnight ventilation via a Bi Pap machine “from day dot as my lungs were proving to be very unreliable”.

However, Freda was not going to let the rare disease take over her life.

“I took the bull by the horns way back then and said ‘you’re not going to rule my life. I’m going to rule my life. I will dance to my own trumpet’.

“Anything people said I couldn’t do, I did. I’ve travelled around the world alone. I chose to not let it rule my life. But in saying that, it wasn’t always easy.”

But there is plenty to keep Freda smiling – she has been working as a kōhanga reo administrator since around the time she was diagnosed 32 years ago, and says it is an absolute joy to come to the South Auckland centre each day and see the smiling faces of the children. She is also a Justice of the Peace and is involved in the marae and kura.

Freda is one of eight siblings, she has two sons and three granddaughters, and says one of her proudest achievements in life is being a mum.

“I’m proud of everything. I just get on with life.”

Freda says it was hard, at that time, being the only person in the country with Pompe disease.

“It was lonely. You have no idea. No one knew anything about it. No one could help me. I have some idea of what it’s like to be an orphan now.”

It was 13 years before another Kiwi was diagnosed. There are now 12 people in New Zealand with Pompe disease, including two of Freda’s whānau, and the NZ Pompe Association was set up to help people with the condition keep in touch, to offer support, advice and help.

Freda, and the association are also heavily involved in lobbying the Government to fund Myozyme for late-onset Pompe disease. A small number of New Zealanders, including Freda, receive the drug as a result of a compassionate fund – but the association wants to see the drug fully funded.

The enzyme replacement therapy is not a cure, but it does give recipients a better quality of life. It can stabilise the disease and prevent deterioration.

The drug is funded for all ages in more than 75 countries and New Zealand is one of just three countries in the OECD that don’t fund it for all ages. However, Pharmac does provide funding for New Zealand infants with Pompe disease – despite the fact no infants in the country have been diagnosed.

Lobbying from the group was fairly quiet this year because of Covid-19 and the elections, but Freda says they will get back into it next year.

“We’ve just got to keep chipping away at it.” Freda has been “very mindful” of how Covid-19 could affect her health and was in isolation for 12 weeks by herself, except for caregivers who came in to shower her.

She says it was hard, and lonely, but lots of Facetime calls and drive-by visits from whānau helped brighten her days.

Freda says the key to living with Pompe disease is taking life one day at a time.

“If you are a strong person in yourself, you just have to roll with the punches.

“People ask me what I miss. I used to miss wearing high heel shoes. But not anymore. Actually, I don’t miss anything. I don’t miss playing sports – I get to sit in my chair and watch it on my big TV instead.”

* This story was originally published in the Summer 2020 edition of In Touch magazine. 

For more information please contact:       
Melanie Louden 
Communications and Marketing Advisor 
Muscular Dystrophy Association of New Zealand 
027 509 8774 
[email protected]