In March 2024, Kayla Gonzalez started having an odd sensation behind her right kneecap. At first, she didn鈥檛 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鈥檛 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 麻豆学生精品版. She had just turned 32 years old, her daughter was 3, and her son was 1.
鈥淢y head was spinning...I was just thinking I鈥檓 going to die, and my kids are going to see me in a state where I can鈥檛 talk or move.鈥
Gonzalez met with the clinic鈥檚 genetic counselor, Emily Spoth, MS, CGC, soon after she was diagnosed. While most ALS patients have a sporadic form that can鈥檛 be pinned on a specific explanation or cause, about 20% end up having a genetic component associated with disease onset.
鈥淚t鈥檚 becoming more important to do genetic testing because of the treatment options that are available,鈥 Spoth said. 鈥淜ayla鈥檚 dad was diagnosed with ALS in 2022, but even if that wasn鈥檛 the case, it鈥檚 important for us to understand each patient鈥檚 unique genetic makeup when treating ALS.鈥
Testing showed that Gonzalez鈥 ALS was caused by a mutation in the SOD1 gene (Super Oxide Dismutase 1), which meant she was eligible for a relatively new, . 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.
鈥淲hen I got the news about the medication, my whole head changed,鈥 Gonzalez said. 鈥淚 don鈥檛 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.鈥
Gonzalez described it as winning the lottery.
鈥淔or me, it felt like a miracle that there was a treatment that could help my specific gene mutation,鈥 she said. 鈥淚 can see my kids, hear them, see them, touch them, and you almost feel guilty because there鈥檚 so many people with genetic mutations who don鈥檛 have this treatment option.鈥
Gonzalez is the first patient to receive this new treatment at U of U Health鈥檚 ALS Clinic, which is where she meets with her care team for regular checkups.
鈥淭his is one-stop shopping,鈥 said neurologist Mark Bromberg, MD, PhD. 鈥淧atients are saving time and effort when they come and see us, and that鈥檚 our goal鈥攖o make things a little easier for them.鈥
Bromberg was instrumental in formalizing U of U Health鈥檚 ALS Clinic in the 1990s. Since that time, he has watched the clinic grow into what it is today.
鈥淲e are the only ALS clinic in the Mountain west that is certified through the ALS Association,鈥 said Cassie Kuhn, APRN, DNP. 鈥淥ur 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.鈥
Kuhn is Gonzalez鈥 ALS provider . She has been a part of the ALS Clinic for eight years鈥攆irst 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.
鈥淲hen 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.鈥
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.
鈥淚 used to have an uncomfortable, tingly feeling in my muscles, in small patches all over my body鈥攁lmost like when your foot falls asleep,鈥 Gonzalez said.
鈥淪ince I got the first shot, I haven鈥檛 had that feeling since. That鈥檚 huge because that sensation was one of the biggest things that would bother me.鈥
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.
鈥淢y daughter Natalia has been an absolute angel with it all,鈥 Gonzalez said. 鈥淪he loves helping me, bringing me food to eat, and making sure I have everything I need.鈥
Gonzalez has advice for anyone else who may be facing their own ALS diagnosis.
鈥淚f you know someone with ALS, don鈥檛 think that their journey is going to be your journey,鈥 she said. 鈥淓very ALS journey is completely different. Stay positive.鈥
鈥淭his is my life now,鈥 she said. 鈥淚鈥檓 making the most of it. Some things take me longer, but that鈥檚 life. I can breathe and see my kids and I am so grateful.鈥
While the medication continues to decrease the severity of Gonzalez鈥 symptoms, it鈥檚 also doing something even more important.
鈥淚t鈥檚 giving me hope,鈥 she said. 鈥淚t鈥檚 not just, 鈥榊ou have a terminal illness, you鈥檙e dying.鈥 Now it鈥檚, 鈥業 have this shot, and I am going to make it.鈥欌
U of U Health鈥檚 ALS Clinic
At 麻豆学生精品版鈥檚 ALS Clinic, specialists from across disciplines work together to provide leading-edge care in one place.