For four-time Paralympian Danelle Umstead, genetic testing has become a family affair
October 3, 2022
On the slopes or in her daily life, skier Danelle Umstead does everything with gusto—including supporting her family members as they consider getting their own genetic tests.
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Danelle with her son, Brocton (L), and her husband, Rob (R).
As its name suggests, an inherited retinal disease (IRD) is passed on genetically from one’s parents. For families with one member who lives with an IRD, other members may be at risk of inheriting it too. Genetic testing is the only way to definitively confirm a clinical diagnosis and potentially identify the specific gene mutation(s) causing vision loss. The decision for other family members to get a genetic test usually starts with a discussion, and, for Paralympian Danelle Umstead, these discussions have already begun.
Danelle’s path to getting her own genetic test was an unusual one. After experiencing vision loss starting at age two, it wasn’t until she was 13 that she received a clinical diagnosis of retinitis pigmentosa (RP). Fifteen years later, after she learned to ski, she had lost nearly all her vision.
Danelle stands with her skis.
At 38, Danelle was also diagnosed with multiple sclerosis (MS), a chronic neurological disease that, among other things, can affect a person’s eyesight. She began to wonder if her vision loss was being caused by MS, not RP; genetic testing for her inherited retinal disease was the only way to find out.
At the time, however, she thought that getting a genetic test was unnecessary—even a little intimidating. “Back then, when I heard the phrase ‘genetic testing,’ it was like, ‘Oh, that’s not for me,’” she remembers. “It sounded scary.” But then one of her teammates, another Paralympian, walked her through the process. “My husband Rob and I googled it, and that’s how we discovered the Eye Want 2 Know website and its educational resources,” she says. “I had never realized getting a genetic test could be as simple as providing a saliva sample or a simple cheek swab.”
In 2018, Danelle made the decision to get a genetic test. The results confirmed that she was indeed living with RP. Here’s how she remembers it: “Results confirmed that my vision loss wasn’t related to my MS, and I felt relief knowing that I could keep track of the progression and of treatment options that might be available in the future.”
Recently, Danelle has been discussing genetic testing with two of her closest family members. The first is her sister, Nicole, whose vision-loss symptoms have been making Danelle wonder if she might have RP, too. “She can’t see without her glasses anymore and has difficulty seeing at night. We facetime a lot, and she’s like, ‘I can’t see you!’ And I’m like, ‘Welcome to my world!’”
Although RP is often diagnosed in young adulthood, its age of onset can vary. With Danelle’s help, Nicole has agreed to get her own genetic test as long as Danelle comes with her for moral support.
The second family member is her son, Brocton, who at 14 has shown no signs of vision loss. “He’s about to start driving,” Danelle says nervously. “And while he’s doing great and has no vision problems right now, he knows it’s something that could affect him over time.”
Back when Danelle got her genetic test, she and Rob took Brocton along with them. “His dad and I had a conversation with him about the possibility that he could have RP because of me,” Danelle says. Now Brocton has decided he wants to get his own genetic test. “We’ve always left it up to him to decide whether or not to pursue genetic testing,” his mom adds, “so he can be prepared if he finds out he has the gene.”
Danelle (L) and her sister, Nicole.
It confirmed that my vision loss wasn’t related to my MS, and I felt relief knowing that I could keep track of the progression and of treatment options that might be available in the future.
These conversations among family members can be an essential part of living with an IRD. Discussing genetic testing is a way to provide data, dispel misconceptions, and empower family members to arm themselves with knowledge.
For Danelle, supporting Nicole and Brocton also demonstrates her passion for helping people. Last year, she launched the Sisters in Sports Foundation, which provides support for female athletes living with disabilities. “We already know women in sports have a hard time,” she says, “now think about women with a disability in sports. Our hope is to support them from the start of their athletic careers all the way to when they become Paralympians.” Fifteen young athletes are already participating in the program.
With Sisters in Sports gathering momentum and her family members taking their own steps towards genetic testing, Danelle is putting as much effort into supporting others’ choices as she has into her own. “Skiing is what makes me feel alive and strong,” she says, “but I also love connecting with people. I love the energy and excitement of helping them on their path.”
Her connections seem to be having an effect. As a way to potentially identify risk, shorten the time to diagnosis, and connect to support services, genetic testing offers important information to those who get tested—and to their families and caregivers. For Danelle, two more of the people that are closest to her are about to claim the power that comes with being informed.