In the span of one dark month in 2016, Pam and Chris Andrews’ world was shattered.
Last March, they learned both of their daughters have Niemann-Pick disease type C1 (NPC1) — a rare, fatal genetic disorder sometimes referred to as “childhood Alzheimer’s.” Most children diagnosed with the disease are dead within 10 years of diagnosis, Dr. James Gibson, a geneticist at Ascension’s Dell Children’s Medical Center in Austin, Texas, told them.
NPC1 is an extremely rare genetic disease where harmful amounts of cholesterol accumulate in cells membranes throughout the body, affecting the brain, spleen, liver, among many other things. This accumulation of cholesterol impairs normal brain function and results in neurological degeneration. If left untreated, Belle could suffer from seizures, dementia, ataxia, and cataplexy. Eventually, sufferers of NPC end up in wheelchairs, unable to speak, and unable to recognize their loved ones.
Only 500 children have NPC1 in the world and there only 100 diagnosed cases in the United States. The average life-span of children who go untreated is between 12 and 20 years of age. Most children with NPC1 will die in their mid-teens.
Six-year-old Belle was diagnosed on March 10, 2016. Three weeks later, Abby, now 2, was diagnosed. Both Chris and Pam inherited an autosomal recessive gene and both girls inherited the genes from them. The girls had a 25 percent chance of inheriting both genes from their parents.
The Austin, Texas, couple had been holding out hope that at least Abby would be spared.
“We were facing losing our entire family,” says Pam, 44, a senior director for business development at an international consulting firm.
“There was no more normal,” says Chris, 45, an attorney. “Nothing was ever going to be normal again…We were crushed.”
Though devastated, the Andrews quickly rallied and found a promising clinical trial for the disease. The drug VTS-270, made by Vtesse, Inc., is not a cure but treats the symptoms of the disease, which include gradually losing the ability to think, hear, walk, talk and eat on their own. They also decided to start the Firefly Fund, a foundation to find a cure for this and other rare, neurodegenerative diseases that affect children.
“We will not let them die,” vows Pam.
Adds Chris: “No matter what we have to do, no matter who we have to call, no matter how much money we have to raise — whatever it takes — nobody’s going to take my kids.”
On Feb. 28, they will officially launch their foundation at an event in Austin, Texas. Former CBS anchor Dan Rather is hosting the event.
Friends and family also started a GoFundMe campaign to help the family with medical costs insurance won’t cover and other expenses related to their care. The family was traveling to Rush University Medical Center in Chicago every two weeks for the first six months of treatment, but Pam successfully got Vtesse, Inc. to launch a clinical trial site in Austin last December.
Abby got a “compassionate use” exemption from the FDA, which has allowed her to receive the drug since last May. Belle was enrolled in the clinical trial and is either receiving a placebo or the drug for the first year. In May, she will start getting the drug.