For as long as she can remember, 20-year-old Olivia Ames has taken multiple baths daily to try to relieve her itchy, scaly skin that can’t be soothed with creams, and even after undergoing two leg surgeries to improve her movement, she still must use canes to walk. Ames, who was born with the genetic disease Sjögren-Larsson Syndrome (SLS), is uncomfortable, but statistically, her individual case is unique in and of itself.
While the severity and variety of SLS symptoms varies, most patients also suffer from some degree of intellectual disability, said Dr. William Rizzo, a professor of pediatrics at the University of Nebraska Medical Center, who is thought to be a leading SLS expert in the United States. Although Ames copes with ichthyosis, the rare condition that causes her skin discomfort, as well as limb spasticity— another common SLS symptom— she attends college and suffers from no mental problems.
“I am an optimistic person,” Ames, who attends Regis College in Weston, Massachusetts, told FoxNews.com. “I always look on the bright side of life, and even though there are obstacles in my life, I don’t let them slow me down or stop me.”
SLS affects an estimated 1 in 200,000 patients worldwide, making it a rare disease by the National Institute of Health’s (NIH) definition, and thus few studies have been conducted to identify treatment or a cure.
Ames recently enrolled in a randomized controlled clinical trial for a possible SLS treatment to help treat ichthyosis, and the small study appears to have promising results, Dr. Todd C. Brady, president and CEO of Aldeyra Therapeutics, which funded the trial, told FoxNews.com. But Rizzo, the lead author, and also a physician at Children’s Hospital of Omaha, said the findings are early and “very tentative.” Ames also believes she received the placebo because her symptoms didn’t improve from the drug.
“I just hope that in the future there will be a cream or a pill that will help my itching completely,” Ames said. The itching is the worst at night, when she’s lying down to go to sleep and her mind tends to wander. “It would be so nice to not have to think about the itching.”
Rizzo began studying SLS in the 1980s, when he became interested in its biochemical properties— namely the accumulation of fatty aldehydes, a lipid found in low levels in the bodies of healthy individuals, but a substance that accumulates in SLS patients. SLS is marked by several inherited mutations in the ALDH3A2 gene, which causes a fatty aldehyde dehydrogenase deficiency. This deficiency prevents fatty aldehydes from being oxidized into fatty acids, thus causing problems in molecules and leading to SLS symptoms.
“We think [the cause of SLS] is the accumulation of that fatty aldehyde harming the function of other molecules in the cell,” said Rizzo, who was among the researchers who discovered SLS’s enzyme defect in 1987, and was the first to clone the gene and describe its mutations in 1995.
In his years of treating patients like Ames, Rizzo has most commonly seen doctors misdiagnose SLS as cerebral palsy (CP), a catch-all diagnosis for patients who suffer with limb spasticity. But it’s the ichthyosis, which patients are sometimes diagnosed with singularly, that often differentiates SLS from CP, he said.
SLS patients typically go to the dermatologist to address skin itchiness, only to realize later that common creams and topical treatments are ineffective. They also often undergo surgery to improve movement.
Ames has tried both to no avail.
Her mother, Stephanie Ames, of Watertown, Massachusetts, said Olivia underwent her first leg surgery at age 7. The procedure involved bilateral femoral osteotomies wherein surgeons rotated, cut and re-angled her femurs, and a couple of tenotomies, wherein her tendons were surgically cut to loosen the muscles. At age 11, Ames had another surgery to further loosen her muscles, including the adductors and the calves. While the first procedure helped Ames walk better, the second appeared to do more harm than good.
“After the one in second grade, I could not walk perfectly, but I could walk for myself,” Ames said. “But after the surgery in fifth grade, I was in my wheelchair immediately after the surgery then I graduated to a walker, and now I’m still using the canes, so I can’t really walk unassisted.”
However, Ames said she considers ichthyosis the most uncomfortable symptom of SLS.
“I have tried all kinds of creams, and taking baths and long soaks, and nothing really helps. They help with the look of my skin, but they don’t really help with the itching,” she said.
Sometimes, Ames’ physical appearance causes other people to discriminate.
Stephanie recounted a family trip to Paris when Olivia was 11 and the waiter at a restaurant handed everyone at the table a menu except for Olivia.
“So I said to him in French, ‘She reads,’ and he gave her a menu as well,” Stephanie said.
Despite what can be often severe symptoms, SLS patients seem to have a relatively normal life span. That’s the first question Stephanie asked the doctor when Ames was diagnosed with the disease around age 2, after Ames showed noticeable delays in some motor skills such as walking. Even then, Ames had itchy skin, which prompted her mother to give her several daily baths. After seeing multiple specialists, when she was a toddler Ames met a neurologist who began piecing her symptoms together and sent her to see Rizzo. Rizzo conducted the testing on Ames and officially diagnosed her when she was 2 years and 4 months old, Stephanie said. Ever since, the family has stayed in touch.
As Rizzo continues to study SLS, families like the Ameses who are coping with the disease firsthand also keep looking for a solution.
Stephanie said Olivia has also begun meeting with a new dermatologist who they hope will be able to offer a remedy. Meantime, they’re awaiting results of the clinical trial Ames participated in.
“We’re really interested in anything that moves SLS forward,” Stephanie said.
Ames, meanwhile, plans to continue busying herself to distract from the itchiness. At school, she is part of a Bible study group, and she has signed up for gospel choir and glee club. She’s leaning toward studying early childhood education.
“I really want to work with kids with disabilities because I think I could really help them because I know what they’re going through,” she said.