In 2014, parents Pam and Chris Andrews noticed their oldest daughter, Belle, was showing some developmental delays in her gross and fine motor skills. Because she was only 3 years old, the delays were subtle and it was hard to know what was normal development and what was cause for concern. But Pam and Chris sensed that something was wrong with their daughter. They sought answers from a multitude of specialists, including speech therapists, vision therapists, physical therapists, neurologists, oncologists, ENTs, nephrologists and endocrinologists. Their search culminated with Drs. Amy White and Mary Elizabeth Parker, who advised them to have Belle’s genome analyzed by Whole Exome Sequencing in order look for potential genetic diseases.

The family was crushed when the test results revealed that 5 year-old Belle had Niemann-Pick Disease Type C1, a genetic disease so rare that Pam and Chris had never heard of it. There are only 500 diagnosed cases of NPC1 in the world and only 100 in the US.

Shortly after receiving Belle’s results, their geneticist Dr. James Gibson suggested that the Andrews have their two-year-old daughter, Abby, tested. They were devastated again when Dr. Gibson confirmed that Abby also had NPC1.

NPC1 is a progressive, neurodegenerative disease where the lysosomes of all cells of the body accumulate toxic amounts of cholesterol…
NPC1 is a progressive, neurodegenerative disease where the lysosomes of all cells of the body accumulate toxic amounts of cholesterol, causing progressive damage to the brain, spleen, liver, and other tissues. If left untreated, Belle and Abby would likely eventually suffer from seizures, dementia, ataxia, and cataplexy. As the disease progresses, children diagnosed with NPC1 require feeding tubes because of difficulty swallowing, are confined to wheelchairs, are unable to speak or recognize loved ones, and die in adolescence.

After pouring over the research and talking with other NPC1 families, the Andrews family found a bit of solace in a growing community of fellow NPC1 families who were able to share their journey. They also learned of a clinical trial being conducted by Vtesse, a rare disease pharmaceutical company, and the National Institute of Health (NIH), to evaluate a drug called VTS-270 for its effectiveness in treating NPC1. There is currently no FDA-approved drug to slow the progression of NPC1.

Through tireless efforts by Pam and Chris, Belle was admitted into the clinical trial and Abby was granted compassionate use of the drug. This meant the family would need to travel to Chicago every two weeks so the girls could receive treatment, which took an emotional, physical and financial toll.

Because the Andrews live in Austin, they reached out to everyone they knew who might have connections with Dell Children’s Hospital, a research hospital in Austin they felt would be a prime candidate for helping to administer VTS-270 for the Vtesse trial. Through their vigilant efforts, Dell Children’s heeded the call of these vulnerable children faster than any other hospital participating in this clinical trial in the world, and implemented a VTS-270 trial for all affected children in their region.

In October, just seven months after their initial diagnoses, Belle and Abby began receiving treatments of VTS-270 at Dell Children’s Hospital, just a ten minute drive from home.

In the meantime, the Andrews family continues to hope this clinical trial results in the FDA approval of VTS-270, so their daughters and other afflicted children can begin to get some relief from this insidious disease.