“We Need a Cure”: Eimear McAndrew’s Fight Against SCA7

For a young woman who once seemed almost unstoppable on the sports field, the progression of SCA7 has forced Eimear McAndrew to confront a future she never imagined for herself.

Eimear McAndrew is a 27-year-old actuarial trainee from Crosshaven. Since being diagnosed with the rare genetic neurological condition spinocerebellar ataxia type 7 (SCA7) at 25, Eimear’s life has changed dramatically. Her eyesight has been severely affected. Her mobility is becoming increasingly difficult. The sport she once loved is no longer possible in the way it was, and activities that once filled her downtime, painting, cooking, Lego, have also been affected.

But despite everything, her mother Kim says she has never heard Eimear ask: “Why did it happen to me?”

Instead, she keeps going.

When I spoke to Eimear’s mother, Kim, about the past two years, one word kept coming up: determination.

“She kind of has a hyper kind of focus,” her mother says. “If she wanted something, she was going after it.”

That determination has been part of Eimear’s character for as long as her family can remember.

She was a gifted athlete who played football and camogie and excelled at almost every sport she tried. Eimear won three All-Ireland football medals for Cork, and even competed on her school’s all-male Sciath na Scol team.

“She was super at sport, any sport she could pick up,” Kim recalls.

She was also an accomplished violin player, although, her mother laughs, “she really wasn’t musical”. What she had was coordination.

“She went to grade seven on the violin with all coordination.”

It is perhaps difficult to reconcile that image of Eimear, running onto a pitch, playing sport, constantly on the move, with the reality she faces now.

But her strength has not disappeared. If anything, her family says it has become more important than ever.

“She’ll push, push, push, push.”

For Eimear and her family, the diagnosis came as a shock. 

Around the age of 19, she began having problems with her eyesight. She thought she might need glasses because of the amount of time she spent looking at screens.

She went for an eye test and was told there was nothing wrong.

After college, Eimear moved to London to pursue a graduate programme in the Bank of England. It was there, a colleague noticed her squinting and sent Eimear for another eye test.

This time she was referred to a consultant, who began carrying out extensive investigations.

Still, there was no obvious explanation.

Kim began looking back at small details that had seemed insignificant at the time. Eimear had sometimes struggled with colours. She had a slight tremor in her hand. There were perhaps changes in her sporting performance.

But none of these things seemed serious enough to raise the alarm.

“She was the last person to fit that kind of a profile,” Kim says.

Then, after months of uncertainty, the family decided to pursue whole-genome sequencing.

The result changed everything.

“It just jumped off the page.”

Eimear had SCA7.

SCA7 is a rare inherited neurodegenerative condition. It can affect coordination and movement, but unlike many other forms of ataxia, progressive visual problems are a defining feature. In people who develop symptoms at a younger age, vision problems can be among the first signs.

For Eimear’s family, however, the diagnosis was far more than a medical explanation.

“It was such a shock.” 

The worry had been that Eimear might lose her eyesight. They had not understood that there could be a much wider neurological condition behind it.

Yet while her parents were struggling to process the diagnosis, Eimear was already showing the resilience that would become one of the defining features of her story.

She had exams to do, and she sat them without hesitation

Kim remembers the family being devastated while Eimear continued studying. She even refused her mother’s offer to fly over to London to be with her immediately.

“She was going to be studying,” she recalls.

“And she went in Monday morning and sat the exam.”

For Kim, it’s moments like those that show how strong Eimear is.

The cruel irony of SCA7 is that the condition began to take away the very things that had always come most naturally to Eimear.

Sport had been central to her identity.

Eimear was a champion. While in school she competed in the Primary Games, in City Sports, and the Sciath na Scol.

Kim is a teacher in Gaelscoil na Dúglaise, the school Eimear attended, where her daughter’s sporting achievements remain part of the fabric of the place.

“Eimear is on the walls a lot in the school,” she says. “A lot of pictures of her in sport.” 

For Kim, those photographs preserve an image of Eimear that feels increasingly distant from the reality she faces today.

“She misses sport hugely.” 

Other things have disappeared too.

Eimear used to paint. She liked decorating shoes and icing cakes. She loved Lego. She was always doing something.

The progression of SCA7 has made many of those things difficult or impossible.

But instead of stopping, Eimear has found new ways to challenge herself.

She exercises intensely and works with a physiotherapist. When Eimear is given a physical goal, she will work relentlessly towards it.

While Eimear is focusing on completing her actuarial studies, her family is fighting for something bigger: more time, better treatments and ultimately a cure.

There is currently no cure for SCA7, and treatment is largely focused on managing symptoms and maintaining function. Research into therapies that target the underlying genetic cause is ongoing.

Eimear has accessed medication through an expanded-access programme in the United States, and Kim is exploring other treatments and intensive exercise.

Kim has begun campaigning for greater awareness of SCA7 and better access to genetic testing.

She has connected with other families affected by the disease and with people who have spent years living with unexplained neurological symptoms.

She believes genetic testing should be more accessible, particularly for families where an inherited condition has already been identified.

But her focus remains Eimear.

“I would do anything to get some kind of treatment out there,” she says.

She is working towards establishing a charity and raising money for research, Kim is currently raising money that will go directly to Leiden University for research.

At the moment, the largest barrier in the way of treatment is funding.

For rare diseases, funding can determine whether an idea remains in a laboratory or progresses towards a clinical trial.

Kim believes that the science is moving quickly enough to offer genuine hope.

“There are things that they couldn’t even conceive of five years ago,” she says. “And AI is really helping in these situations.”

But for Eimear, the future cannot wait indefinitely.

It would be easy to tell Eimear’s story through everything she has lost. Kim, however, sees something else: everything she continues to fight for.

Eimear’s story is really about a person refusing to let a disease define her.

“She’s very tough mentally,” her mother says.

She is still working. She is still exercising. She still sets herself goals.

Even walking ten miles to work once a week is something she has taken on.

“She’d always push herself.”

For Kim, that resilience is the thing that makes her proudest.

“Her coping with everything, her determination… her resilience really.”

There is no pretending that life is easy.

“The thing is, our whole lives have changed completely and radically,” Kim says. “There’s no escaping this.”

But Eimear continues to move forward.

Kim remembers how she approached challenges as a child: if she decided she was going to learn something, she just kept trying until she could do it.

That same determination is now being applied to something far more difficult.

For Eimear, there may be no finish line yet. There may not even be a clear road ahead.

But she is still moving.

Kim McAndrew is currently raising money for SCA7 research, work has already begun in Leiden University in the Netherlands and they urgently need donations. To make a donation see here.