When Angelica Sandoval was diagnosed with a rare and fatal hereditary disease in her mid-30s, she had an unexpected response: a sense of relief.
For years, Sandoval endured stroke-like symptoms, uncontrollable pain, memory loss, and tremors that worsened over time. Dozens of doctors and specialists tried – and failed – to find the cause, until a genetic test came back positive for Huntington’s disease, an incurable and progressive brain disorder causing the death of brain cells involved in movement, intellect, and emotions.
Despite the grim diagnosis, Sandoval was happy to finally have an answer.
“The worst part of this journey was not knowing,” she said. “I did every procedure trying to figure out what it was and received many wrong diagnoses, to the point where I began to feel helpless or like maybe it was all in my head.
“I succumbed to depression, and at a certain point wanted to will myself to die, because I thought there wasn’t going to be an answer.”
During May, the San Antonio resident has released a series of videos on Facebook in which the mother of four and her husband discuss the symptoms and progression of the disease and the impact her diagnosis has had on her family. It’s part of Huntington’s disease awareness month, which aims to educate the public about the disease and its impact.
“At the end of the day I had two hopes for my campaign: To get the community to pay attention and start talking [about Huntington’s disease] so we can all help move the baton forward and support research to find a cure, and to remind people that we all struggle and we can all get through much more than we think we can,” she said.
Huntington’s disease is rare, affecting one in every 10,000 people, according to the Huntington’s Disease Society of America. Another 15,000 people are at risk of developing the condition, which is known as the quintessential family disease, because every child of a parent with the disease has a fifty-fifty chance of inheriting the faulty gene.
Today, there are approximately 30,000 people in the U.S. with Huntington’s symptoms and more than 200,000 at risk of inheriting the disease.
Even after Sandoval was diagnosed, her case continued to puzzle doctors. She had no family history of the disease, and the results of her genetic test were not clear-cut. The genetic test for Huntington’s disease involves counting the number of repetitions of a DNA segment at the start of the gene for the disease. If someone has over 36 repeats, he or she is considered to have a more severe case, according to the Huntington’s Disease Society of America.
Sandoval’s results fell into a gray area – more DNA segment repetitions than normal but fewer than the range that causes full-blown Huntington’s disease, which is where current medical research is focused. But Sandoval, 40, continues to see rapid progression in her symptoms.
“According to science, I am not supposed to be feeling this way,” she said. “And because people on my end of the diagnostic spectrum have less symptoms generally, there is little to no research” that can help her.
George Yohrling, senior director of mission and scientific affairs at the Huntington’s Disease Society of America, said that nearly three decades after researchers first pinpointed the gene behind Huntington’s disease, the disease is still largely untreatable.
“While we can treat some of the symptoms, whether they are behavioral or psychiatric, because symptoms are different for all people, there is no standardization of treatment or care,” Yohrling said. “There are currently two drugs approved by the Food and Drug Administration to treat uncontrollable movements, but when it comes to the loss of cognitive abilities and executive function – things that can make someone lose their identity – we have nothing for them.”
On a recent day, Sandoval was leaving early from her job as a digital media manager for a San Antonio nonprofit because she was in debilitating pain, a common symptom. She said she felt as if there were “thousands of needles inside her body that were trying to push their way out of her skin.”
Sandoval tries to manage her pain, including limiting stress and external stimulants like light
s and sound. She also finds respite in advocating for more awareness about the disease in hopes of furthering research that might one day help her children, ages 15, 13, 9, and 1.
“I know from personal experience just how misunderstood this disease is,” she said. “I am under no misgivings that there will ever be a cure within my lifetime, but I would like for there to be awareness so my kids can have a chance.”
Yohrling said current advances in technology have made it possible for researchers to specifically target the Huntington’s gene and “lower the bad protein that is the root cause of the disease.”
“For the last 25 years, science and technology were not quite [capable] of helping us exploit the fact that we know exactly what gene causes this disease,” he said. “But in 2019 we can, and we are getting there.”
Sandoval compares her experience battling Huntington’s disease to that of people fighting cancer.
“Think about how long is has taken us to understand the mechanisms behind cancer and how it grows and affects the body, and we still do not have an outright cure,” she said. “Those people have a lot of information and are struggling, too. And I hope science advances for us all, because everyone deserves hope.”