By Sherida Mock
A few years ago, Pam and Chris Andrews had a lively 3-year-old girl, another on the way and little knowledge of the intricacies of rare, genetic diseases. All that was about to change.
At first, Pam noticed Belle’s tendency to trip and fall, so she enrolled Belle in occupational therapy. The therapist detected a slight speech problem, so Pam added speech therapy to the schedule. Belle’s preschool suggested she might have hip dysplasia, so Pam consulted a pediatric orthopedist, who ruled out that condition, but recommended a neurologist. The chain of specialists continued: nephrologist, endocrinologist, oncologist.
For a time, all this activity seemed unnecessary to Chris. “Belle’s problems were very subtle and gradual,” he says. “A lot of parents would not have even been concerned. But Pam really stayed on this.”
After years of doctor visits, therapy, tests and blind alleys, a genetic test changed everything. The diagnosis: Belle has Niemann-Pick Disease Type C1 (NPC1), a genetic mutation that means her body can’t metabolize cholesterol properly. It’s rare—affecting only about 500 people in the world—and fatal.
With determination, Pam and Chris promptly sought information and treatment, including Belle’s participation in a clinical trial of a drug called VTS-270 by Vtesse. It means that every two weeks, the whole family flies to Chicago.
Enter Dell Children’s Medical Center. At the urging of Pam and a group of friends, the organization is working with Vtesse to set up a clinical trial site in Austin, which may begin as soon as the week of Thanksgiving. This will mean less travel for Belle and other children in this part of the country—including Belle’s little sister Abby, who was also recently diagnosed with NPC1.
Pam and Chris recently took time to tell us about their complicated, exhausting and emotional journey.
AF: Tell us about your daughters.
Pam: Belle is 6 years old, and Abby is 2. Belle is a real softy. She loves social activity. She loves to paint and draw and do art projects.
Chris: She’s that kid that, if you give her a big cookie and a small one, she’s going to give the big one to her friend.
Pam: Abby is … the opposite [laughs]. She’s mischievous, climbing on furniture, taking Belle’s clothes and hiding them.
Chris: She’s spirited.
AF: When did you first notice symptoms in Belle?
Pam: In gymnastics class, between age 2 and 3, she kept up with her peers. Between 3 and 4, she started to trip and fall a lot.
AF: How hard was it to get a diagnosis?
Chris: There were multiple visits. This is a very common story with NPC. It’s what Dr. Denny Porter at the National Institutes of Health [NIH] calls “the diagnostic odyssey” because it’s so hard to diagnose.
Pam: Both girls went in for their well child visits in March 2015, when Belle was turning 5 and Abby was almost 1. Our original pediatrician was not in the office that day, so we had his backup. When she felt Belle’s spleen, she looked at me and said, “Has it always been like this?” And I said, “Yeah, ever since she was born. You know, we have a physical therapist, and she suggested we get genetic testing.” She said, “I absolutely think you need to do that.”
It took about 6 months to get an appointment. Dr. James Gibson [a geneticist] did a whole exome sequence (WES) the day before Thanksgiving, and they told me they would call in 5 to 6 months. On March 9, 2016, his assistant called and said, “Mrs. Andrews, the test is back and the doctor has cleared his calendar for tomorrow morning.” So we didn’t sleep that night.
Chris: Essentially, Dr. Gibson explained to us, cholesterol accumulates around the major organs. The first real sign of it is accumulation in the brain. This accumulation causes neurological decline, which looks a lot like Alzheimer’s, Parkinson’s and ALS. Eventually, patients lose the ability to eat, walk, talk, hear.
Pam: He said she would live to between the ages of 12 and 20. And he said, “Your other daughter has a 25 percent chance of having this. We need to get her tested immediately.”
Chris: Pretty much the most hopeless I’ve ever felt in my entire life was that 30-minute drive home from Dell Children’s. But within 24 hours of our diagnosis, we received phone calls from families in the NPC community.
Pam: The other families said, “You need to be on some version of cyclodextrin.” So we started looking, and we made the very methodical decision to go into the Vtesse trial.
Chris: Essentially, VTS-270 binds with cholesterol and removes it from the body. It’s not a cure, and it’s experimental. It has to be injected into the spinal fluid at the base of the spine.
AF: So you travel to Chicago every 2 weeks?
Chris: It’s very stressful; it’s very fast-paced. The travel actually has an effect on the progression of the disease.
Pam: The way Belle perseveres and pushes forward and walks through the O’Hare airport, it would break your heart. She has an awkward gait. She tires easily. I don’t want any more added stress on her body that’s going to make her decline any faster.
AF: And you asked Dell Children’s to help you get treatment closer to home. How did that happen?
Pam: My mom and friends were helping out immediately. They created a GoFundMe page and a Facebook page called Saving Belle and Abby. My mom made a call to somebody she knew at Dell Children’s, and they called me and said, “You don’t have to worry. We’re going to do the trial for you.” I just burst into tears on the phone.
Chris: We are so incredibly grateful. Dr. Gibson, who had no obligation to be in this trial, has really stepped up to the plate. And just as easily as Dell could have said, “We’re not interested in a clinical trial,” Vtesse could have said, “We’re not interested in putting anything in Austin.”
Pam: There are two people for sure that I’m grateful for: Dr. Amy White, the girls’ pediatrician, and Dr. Mary Elizabeth Parker, our physical therapist. They were pushing us to get genetic testing. I’m most grateful to Seton Healthcare Family and Dell Children’s. They have the vision of treating the most vulnerable in Central Texas, and they are proving that with everything they’re doing.
We will find a cure. Some days are better than others, but I have a very strong conviction and belief—especially in my 2 year old—that she’s going to be just fine. I believe that my 6 year old is going to live. I don’t know what her normal is going to be, because her disease is a little bit more progressed. But I know that she’s going to be a happy person and that she’s going to live a good life.