Natalie

Fabry Disease

Natalie, Age 31, Los Angeles, CA

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“It’s not the end of the world. I don’t let it break me.” Natalie strives to stay in the present. “Things can always get worse,” she relates. “So be thankful for where you are today and keep moving forward.”

It’s 6:00 pm on a Friday afternoon and Natalie is in her office, working late in preparation for a legal trial next week. A successful employer-defense attorney, she enjoys her work and it keeps her busy. “I love being aggressive and fighting,” explains Natalie. This is an approach she knows all too well living with Fabry disease, a rare lysosomal disorder where an enzyme deficiency leads to the buildup of disease substrate globotriaosylceramide (GL-3) in vital organs.

Growing up in Yuma, Arizona, Natalie recalls a childhood where neuropathic pain was commonplace: each “episode” included burning sensations in her hands and feet. The sweltering days of desert heat amplified the pain; summertime temperatures in Yuma could top 120°F. As a result, she missed many days of school and could never participate in sports or physical education classes. “I never cared much about sports,” Natalie says. “So it was okay for me.”

Natalie’s family is quite familiar with Fabry. Her father, Raul, an indigenous Mexican-Californian, also lives with the disease. Her paternal grandmother succumbed to Fabry when Raul was just 13 years old, back when it was not well known and women were not considered affected by the disease. Raul was one of the first to participate in early clinical trials, granting him access to therapy.

Raul suffered from a stroke when he was 38 and lost some of his motor skills. “I think about my father’s stroke a lot now that I’m in my 30s. I’m getting to that age myself, and I have a stressful job.”

At the same time, Natalie’s parents instilled in her the belief that her condition did not make her a victim. “My mother has always been very supportive,” says Natalie, acknowledging that her mom acted as caregiver to both her and her father—not a small feat. In time, Fabry has become a unique father-daughter bond for Natalie and Raul. “We always reach out to each other when we are having a [pain] crisis or not feeling well,” she says. Raul also stays on top of Fabry-related research and talks to Natalie about her health and treatment options.

It took Natalie quite a while to tell her long-time boyfriend and now fiancé, Nardo, about her disease. He says, “We were friends for years before she told me anything about Fabry. I didn’t know. I can understand the difficulty of revealing something like that and then needing to explain it.”

A fellow lawyer, Nardo has become a supportive partner to Natalie. “Once I got to know her, I was able to learn about Fabry symptoms and to ask ‘What’s wrong?’” Together, the couple attended a patient conference held in San Diego. “That’s when it really hit home for me,” says Nardo. “There are issues associated with Fabry that she may not exhibit, but are things to look out for.” Nardo remains involved and travels with Natalie to the hospital for her disease management.

At home, Nardo helps calm Natalie after a hard day at work. “He’s the chill one,” she explains. “Sometimes when I’m hyper stressed from working long hours, I think about taking a step back, to do some yoga, and let off some steam.”

Natalie remains stoic in her determination not to let Fabry get in the way of fulfilling her goals. “It’s not the end of the world. I don’t let it break me.” Natalie strives to stay in the present. “Things can always get worse,” she relates. “So be thankful for where you are today and keep moving forward.”

On the weekends, Natalie often unwinds with Nardo. They love to go out and enjoy the incredible variety that living in a place like Los Angeles has to offer—fresh seafood, trendy restaurants, and diverse cuisine from all over the world. “We’re foodies,” says Natalie, with a shimmer in her eye. Together, they are able to lead a rich and full life, allowing the circumstances and complexities of Fabry to remain a side-dish, while they enjoy their entrée.