Whangārei girl with rare genetic condition Friedreich ataxia helps fundraise for her treatment

Carrie, 12, pictured on an adaptive bike from Parafed Northland, has the debilitating condition atypical Friedreich ataxia, but she and her family are determined to fundraise for ongoing medical costs. Photo / Michael Cunningham

Carrie has a rare genetic disorder, atypical Friedreich ataxia, a degenerative condition that leaves her with muscle spasms, neurological pain, low iron, and vision limited to about 1m with glasses on.

The bubbly Kokopu School student finds her mobility changes depending on how well she is feeling.

Some days, she is able to walk a short distance without any aid, although her crutches are always nearby.

Other days, Carrie has to use a wheelchair and the comedian-in-waiting is already practising jokes about the situation.

Mum Laura, who asked their family name be withheld for security reasons, said Carrie was a great kid who liked pop star Pink, performing and dancing when she can — often while kneeling down.

“She just gets upset because her friends are all into gymnastics and it really frustrates her. At playtimes, she hangs out in the school library,” Laura said.

Carrie hoped to run a hotel designed for people with disabilities, Laura said.

Though her symptoms began when she was 18 months, Carrie was about 8 when diagnosed with Friedreich ataxia — and the diagnosis came about only because her UK-based grandmother, who also has the condition, insisted she be genetically tested.

Laura said the atypical side of the condition meant Carrie’s strain was extremely rare, with only two other people in New Zealand having the same strain.

Because of the rarity of her condition, Melbourne doctors specialising in Friedreich ataxia hope to do more testing on Carrie, with the aim of treating some of her symptoms.

The team, led by Professor Martin Delatycki, of the Murdoch Children’s Research Institute, need Carrie to come to Melbourne for about a week for testing.

As well as the cost of getting to Melbourne, Laura has to pay for Carrie’s medicinal CBD oil, plus hydrotherapy at Whangārei Aquatic Centre that is partly funded by a Wilson Home Trust grant.

Laura, who is a sole parent after the death of her husband, works casually for an accounting firm, but sometimes has to take time off work when Carrie is sick.

To help cover the costs, Carrie’s 10-year-old brother, Keifer, suggested the family sell boxes of kindling as a fundraiser.

After posting the fundraiser on social media, it had attracted so much interest the three of them had struggled to keep up, Laura said.

They have run a small conveyor belt to fill the orders, with Carrie helping pack the boxes.

But so many people have offered money or donations that Laura was convinced to also start a Givealittle page for Carrie.

Laura set a goal of $4000 to cover all the costs and is pleasantly surprised to see people have already donated more than $400.

“I’m not a crier, but when one person donated $200 it nearly brought tears to my eyes. People are sharing it all over Facebook.”

Carrie has also received free membership from Community Leisure Management, which runs the aquatic centre, plus voluntary support from her swim instructor.

Laura said Carrie felt overwhelmed that people cared.

Denise Piper is a news reporter for the Northern Advocate focusing on health and business. She has more than 20 years in journalism and is passionate about covering stories that make a difference.