How a rare genetic disease changed all her plans

Tiffany Fransen was having a good time with her cousins at a Taylor Swift concert in Glendale, Arizona, in 2023 when a police officer confronted her to ask if she was drunk.

She wasn’t, but it wouldn’t be the last time she’d be asked that question. The same thing happened with another officer months after that. And a flight attendant asked her that question when she was boarding an airplane for a family vacation.

Tiffany, now 27, staggers, stumbles and sometimes falls. If she’s tired, she may slur her words. So she spends a fair amount of time explaining a neurodegenerative disease she’d never even heard of growing up, but which now plays a large role in not only her life, but that of her family.

Always a clumsy child and teenager, Tiffany, a wife and mom who now lives in Highland, Utah, spent years trying to figure out if she could do something to conquer what she thought of as her klutziness. She wasn’t coordinated enough to play sports. But she most often just shrugged it off.

Five years ago, she learned she has a neurological disease that is projected to get much worse as the years go on.

That disease, called Friedreich’s ataxia, is rare enough that most of the doctors she consulted, including neurologists, know little to nothing about it. “Ataxia” refers to a lack of muscle control and coordination, so people with Friedreich’s ataxia have clumsy movements that impact how they walk, their balance, their speech, fine motor skills like using their hands and even swallowing, as the Friedreich’s Ataxia Research Alliance explains.

Friedreich’s is just one type of ataxia. It’s rare.

It affects about 5,000 people in the U.S. Only 1% of people carry the gene mutation and both parents have to be carriers for a child to inherit the condition and develop symptoms. It’s likely most carriers don’t ever learn they carry it. Tiffany’s mom, Pam Nash, said neither she nor her husband had even heard the name, yet Tiffany and one of her younger sisters both have the neurodegenerative disorder. Tiffany’s two brothers and another sister do not. When both parents have a copy of the gene mutation, each offspring has a 25% chance of having Friedreich’s ataxia.

Tiffany was diagnosed by way of a genetic test, which is the only way to know for sure.

At the time, five years ago, she and her husband Alex had been married for just three weeks.

Gene mutation creates ‘energy crisis’

Dr. Susan Perlman, a neurologist at UCLA Medical Center, follows about 130 patients who have Friedreich’s. People who study, treat or live with the disease usually shorthand the disease name to FA.

The genetic mutation that creates FA is in a gene responsible for producing a protein called frataxin, involved with energy production in nerves, muscles and heart muscles. When protein levels are low because of the mutation, energy production is sluggish. Free radicals also build, ultimately killing nerve and muscle cells.

Perlman said the balance center and its pathways in the spinal cord are very sensitive to what she calls an “internal energy crisis.” Skeletal muscles can do OK for a while, but eventually run out of energy-generating potential and become weak and tired. The heart is also sensitive to lack of appropriate energy production, so people with FA are very vulnerable to heart problems like cardiomyopathy. Some might develop scoliosis. Diabetes, hearing and vision problems can be part of the disease. At some point, those with FA typically need a wheelchair.

The disease can shorten lives, particularly for those with heart complications. Tiffany doesn’t have any, but said she’s been told they could develop.

Perlman knows that doctors who are unfamiliar with FA, which she first saw in the 1980s before it even had a name or test, may brush it off with something like, “You’re clumsy. I was a clumsy kid, too.” When over time the clumsiness proves progressive, rather than being outgrown, a doctor may finally make referrals to a specialist who will order a genetic test. When symptoms don’t show up in childhood — they often do around age 7 or 8 — the search for answers can take a lot longer. For many adults, there are years of doctor appointments that yield nothing on the way to finding out, a journey often littered with misdiagnosis and delay after delay, Perlman said.

For those with later onset or at least recognition that something’s off, FA’s timing typically catches young people as they’re socially interactive in school, trying to launch careers and forming relationships, she said. “It’s tremendously stressful.”

Tiffany’s search for answers took six years and certainly wasn’t what she expected.

A changed but not scaled-down life

When they got engaged, Alex knew that Tiffany was trying to figure out why she stumbled so often and sometimes fell. He’d even picked her up a few times after she tumbled. “She still falls slow enough to get to her butt or back and not be hurt,” he said matter-of-factly.

When they were dating, she told him that when she was serving a Spanish-speaking mission for The Church of Jesus Christ of Latter-day Saints in Washington, D.C., it had become difficult to walk down stairs unless there was a rail she could grasp.

She’d even heard of Friedreich’s ataxia. That happened back when she was 20. She’d struggled to come out of anesthesia after an operation. The nurses were concerned, but clueless. One of the doctors mentioned that it might be FA, but said it was no big deal. So she didn’t even look it up online.

Alex and Tiffany had planned to start a family “in a year or three” after they married. They wanted to grow as a couple first. Her diagnosis changed that. He got genetic testing to make sure he wasn’t an FA carrier and they moved up the timeline. They had Robbie three years ago, then Andy, who is now 1½. They both wanted children and were not sure how fast the disease would progress; she longed for time to enjoy them and motherhood in the most healthy way possible.

But the muscle weakness has progressed quickly. Alex, who was a welder, had to change career direction so he could be home with Tiffany and the boys most of the time. She can’t lift Andy to change his diaper or help the boys with their baths. Her hands shake, so Alex took care of feeding their babies even early on. Once, he was taking a shower and one of the boys fell down the stairs; she yelled and he rushed out of the shower to pick up and soothe him.

If he wants to go hunting — something he used to really enjoy — he has to arrange for someone to stay with his family. For a trip to the store, he takes the boys along or makes arrangements, so life’s a bit more complicated than it is spontaneous.

Alex works from home, doing customer service for a heart monitoring company. Tiffany, who got her degree in accounting, does the books for the company. Her brain is — and will remain — intact, so though her fingers are slower than she’d like when she types on her computer, she has a job and can manage it well.

If someone puts Andy or Robbie on her lap, she’ll happily snuggle them and read them a book. But she can’t lift them there. If they wake and cry at night, Alex goes. She points out that when the kids need something, they seek their dad. She calls him “Mr. Mom,” but there’s a bit of wistfulness in her voice.

That’s not the only thing that makes her feel sad.

When someone has a visible disability like she does, she said, people assume things about what they can and can’t do or about their circumstance, like the questions about alcohol consumption.

“It’s not that I don’t need help. I do,” she said, adding that she’s grateful when someone holds the door for her, but less so when they don’t know how to behave so they pretend she isn’t there. Or when they act like she can’t do anything at all. She can do lots of things.

“I have a happy life,” she said. “I have a family and a job. I feel fulfilled. I am a whole person.”

A couple’s wish list

Still, she wishes FA was better known, in part so people would be more comfortable around it. Familiarity could explain some of the disease’s challenges and maybe people would even push for more research to try to solve it. Right now, there are several treatments in the pipeline but only one that’s approved by the Food and Drug Administration. That medication, Skyclarys by Biogen, is a daily pill that reduces symptoms and slows disease progression. It’s a blessing, but it’s not a cure.

Among her challenges is keeping the muscle tone she can. She has physical therapy, including both muscle building and balance, four times a week. That will go on indefinitely to work on keeping her strong.

Alex’s wish is closer to home and probably more attainable: “I wish people would let Tiffany tell them the things she can and can’t do. Sometimes she gets discouraged that she’s not included” when friends decide for her that she won’t be able to participate in activities. She might say she can’t, but it’s nice to be asked.

She usually uses a walker now. One advantage to using a walker, she said wryly, is people have stopped asking if she’s drunk. Because she — like virtually everyone with FA — gets exhausted, she sometimes uses a wheelchair. Her walker is the type that can convert to meet either need.

She worries that one day she won’t be able to communicate well, that her increasingly slurred speech will be hard to understand. She doesn’t want to stop being funny and witty and amusing others.

Meanwhile, the Fransens are blessed with nearby relatives who are very supportive and this little family is far from homebound. She still drives, though if someone else is available, Tiffany prefers they do it. She has a minivan that has room for the walker/wheelchair, while he drives a truck. They love to take their boys to the aquarium. They went to Disneyland not too long ago.

Their home is a rambler with space on one floor that Tiffany can manage well. This month, their house is dressed up for Christmas, three cheerful snowmen in the front yard and a beautifully decorated Christmas tree in the living room.

She smiles when she says that Robbie told her “Mom, you can’t run.” He’s right.

But she can do other, far more important things, like read and tickle and treasure. For now, life is full and it’s enough.