At just over 2 years old, time is fleeting for Lincoln girl Cenzy Thornton.
Shortly before her first birthday, and after a long string of testing to determine why she wasn’t hitting her developmental milestones, Cenzy was diagnosed with Tay-Sachs disease, a genetic condition that is both rare and terminal.
As their daughter’s condition continues to progress, her parents, Kristopher and Kristen Thornton, agreed they hope her story will encourage others of Irish descent and other high-risk groups such as Ashkenazi Jews, Cajun and Amish populations to invest in genetic testing.
“It’s such a rare disease, her neurologist had never even seen it,” Kristen said. “As a nurse, I know the outcome. Although it was shocking, it was a relief to know what was causing the symptoms, and why she wasn’t hitting her milestones.”
Tay-Sachs disease is a progressive neurological disorder that destroys nerve cells in the brain and spinal cord. According to the National Institutes of Health, infants with the disorder typically appear normal until sometime between the age of 3 to 6 months, when development slows and muscles used for movement weaken. Typically, children with Tay-Sachs lose motor skills such as turning over and sitting, and develop an exaggerated startle response, along with seizures in later stages.
Life expectancy for infants diagnosed with the disease is usually between two and three years.
As the disease continues to dismantle Cenzy’s neurological system, Kristen said the family’s savings account has been slowly depleted. While her job at Beebe Healthcare has been accommodating, she said balancing the progression of Tay-Sachs and the family’s budget has been nearly impossible at times. Cenzy sometimes requires more than 10 medications, has low muscle tone, and cannot support her own weight. If she comes down with a common cold, it requires a trip to the hospital, Kristen said.
“There are hard and sad moments, but there is research, and we are trying to find out more about clinical trials,” she said. “There is no cure, but there are treatments and measures to slow the progression.”
Kristopher said he remembers a baby who loved to smile and laugh before the disease stopped Cenzy’s normal development. For now, every moment with their daughter counts.
“We’re not going to stop living,” he said. “And we’re not going to put her in a bubble, either.”
“Wherever we go, she goes,” Kristen said.
The Thornton family has established a youcaring account to raise funds for their expenses, but Kristopher said he also hoped to share the word in time for Rare Disease Day, Wednesday, Feb. 28.
For more information about Cenzy Thornton’s battle with Tay-Sachs, visit her Facebook page at Cenzy’s Corner or go to the fundraising page at www.youcaring.com/cenzythornton-1067590.