In March 2024, Kayla Gonzalez started having an odd sensation behind her right kneecap. At first, she didn’t think much of it. Then, the feeling started to spread.
Soon, she had weakness in her calf, shin, foot, and hip. Eventually, Gonzalez lost all movement in her right leg. She had back surgery to help address the issues in her right leg. Unfortunately, surgery didn’t help, and her symptoms kept progressing.
Gonzalez is now wheelchair bound. She also lost movement in her shoulders, although she does have movement from elbow to hand in both arms. In less than a year, she went from walking fine, then feeling an odd sensation in her knee, to being diagnosed with amyotrophic lateral sclerosis (ALS), a rare motor neuron disorder. She was officially diagnosed in January 2025 in the ALS Clinic at University of Utah Health. She had just turned 32 years old, her daughter was 3, and her son was 1.
“My head was spinning...I was just thinking I’m going to die, and my kids are going to see me in a state where I can’t talk or move.”
Gonzalez met with the clinic’s genetic counselor, Emily Spoth, MS, CGC, soon after she was diagnosed. While most ALS patients have a sporadic form that can’t be pinned on a specific explanation or cause, about 20% end up having a genetic component associated with disease onset.
“It’s becoming more important to do genetic testing because of the treatment options that are available,” Spoth said. “Kayla’s dad was diagnosed with ALS in 2022, but even if that wasn’t the case, it’s important for us to understand each patient’s unique genetic makeup when treating ALS.”
Testing showed that Gonzalez’ ALS was caused by a mutation in the SOD1 gene (Super Oxide Dismutase 1), which meant she was eligible for a relatively new, FDA-approved medication called Qalsody. Qalsody is the only gene-specific therapy for ALS patients with a mutation in this particular gene, and it has only been available to patients since 2023.
Right now, over 30 genes with mutations are linked to ALS, but the majority of patients with ALS have no known gene mutations. While the understanding of genetic contributions to ALS is growing, the SOD1 gene is the first to have a specific treatment. Gene-specific therapies take years to create and test in clinical trials, and the hope is that eventually there will be more of these interventions for other gene mutations in the coming years.
“When I got the news about the medication, my whole head changed,” Gonzalez said. “I don’t even sit and think I have ALS or a terminal illness. If anything, I have more hope to see where I will be in the next four or five months when I get more medicine in my body. Who knows what it can bring? Maybe I could get some movement back in places. You never know, in 20 years I could be running that marathon. I have a lot of hope.”
Gonzalez described it as winning the lottery.
“For me, it felt like a miracle that there was a treatment that could help my specific gene mutation,” she said. “I can see my kids, hear them, see them, touch them, and you almost feel guilty because there’s so many people with genetic mutations who don’t have this treatment option.”
Gonzalez is the first patient to receive this new treatment at U of U Health’s ALS Clinic, which is where she meets with her care team for regular checkups.
“This is one-stop shopping,” said neurologist Mark Bromberg, MD, PhD. “Patients are saving time and effort when they come and see us, and that’s our goal—to make things a little easier for them.”
Bromberg was instrumental in formalizing U of U Health’s ALS Clinic in the 1990s. Since that time, he has watched the clinic grow into what it is today.
“We are the only ALS clinic in the Mountain west that is certified through the ALS Association,” said Cassie Kuhn, APRN, DNP. “Our multidisciplinary team really helps patients to have the best experience when they come in for appointments, because they are able to see multiple providers on the same day and in the same location.”
Kuhn is Gonzalez’ ALS provider . She has been a part of the ALS Clinic for eight years—first as a nurse and now as a nurse practitioner. In addition to Kuhn, Gonzalez meets with a respiratory therapist, a physical/occupational therapist, a dietitian, a speech therapist, a pharmacist, a case manager, a genetic counselor, and a social worker at her quarterly checkups.
“When we got the news that Kayla qualified for this medication, we were so excited....It has also been amazing to watch the entire team come together to ensure that we have the right protocols in place to safely store and administer this medication.”
The medication is administered via injection into the spine. The first six weeks of treatment involve one shot every two weeks, followed by one shot every 28 days. Gonzalez has had five injections so far, and she has already noticed a significant improvement in some of her symptoms.
“I used to have an uncomfortable, tingly feeling in my muscles, in small patches all over my body—almost like when your foot falls asleep,” Gonzalez said.
“Since I got the first shot, I haven’t had that feeling since. That’s huge because that sensation was one of the biggest things that would bother me.”
Gonzalez receives around-the-clock care from her husband and his family, who live nearby. She also has great support from her two kids: Natalia, who is now 4 years old, and Remy, who is 2.
“My daughter Natalia has been an absolute angel with it all,” Gonzalez said. “She loves helping me, bringing me food to eat, and making sure I have everything I need.”
Gonzalez has advice for anyone else who may be facing their own ALS diagnosis.
“If you know someone with ALS, don’t think that their journey is going to be your journey,” she said. “Every ALS journey is completely different. Stay positive.”
“This is my life now,” she said. “I’m making the most of it. Some things take me longer, but that’s life. I can breathe and see my kids and I am so grateful.”
While the medication continues to decrease the severity of Gonzalez’ symptoms, it’s also doing something even more important.
“It’s giving me hope,” she said. “It’s not just, ‘You have a terminal illness, you’re dying.’ Now it’s, ‘I have this shot, and I am going to make it.’”
U of U Health’s ALS Clinic
At University of Utah Health’s ALS Clinic, specialists from across disciplines work together to provide leading-edge care in one place.