Saša Zorović first learned his son Anders’ had fragile X syndrome when he was four years old. The diagnosis hadn’t come easily. Anders had been tested for fragile X a year earlier and the results were negative. “We are not sure to this day why that happened. His geneticist suspected fragile X and ordered the test, but it came back negative. We continued seeing other doctors and specialists, trying to get an understanding of what Anders had,” Saša said. A year later, another geneticist took a look at Anders and said with certainty, “He has fragile X.” After a thorough examination of Anders and sorting through previous reports, another test was ordered. This time it came back positive. Anders had fragile X after all.
Anders showed symptoms of fragile X early on. At 9 months, his very low muscle tone prevented him from sitting up straight and turning around easily in his crib. He started walking at 18 months and his speech was quite delayed. Anders did not show much interest in other children; his play was very simple and repetitive. His dad says that his early fascination with vacuum cleaners and leaf-blowers is still going strong.
Anders was eleven years old when a unique opportunity in the form of a drug trial presented itself. What was most appealing about this trial, Sasa says, was that the trial medication, arbaclofen, was very similar to baclofen, which had been in wide use and information about its profile readily available. Knowing that the drug was intended to target anxiety was a huge benefit.
“Anders had been on medication prior to the trial, but with minimal benefits,” Saša told me. “We were quite comfortable going into the trial. The drug seemed to have a good safety profile, and we were going to be vigilant and stop if something was not right.”
The trial was supposed to run for just a few months. It was not known whether Anders was going to be on the actual drug, or on a placebo.
“We were hoping, of course, that he would be on the drug and that we would see great benefits.” He added, “We wanted arbaclofen to be this wonder drug that would alleviate most, if not all, of his symptoms. We certainly knew that such high expectations were probably not realistic, but, hey, would it not be great?”
Very quickly it became apparent that Anders was much calmer, much more focused, and more comfortable in his skin. He became less rigid in his choices and behaviors. “Before then he would have only hot dogs for dinner (and anything else would provoke a tantrum). Now all of a sudden, he was open to having either hot dogs or chicken nuggets. Both were fine by him,” Saša explained.
A visit to the dentist helped confirm that the drug indeed was having a great effect on Anders. Previously, someone would need to sit in the chair with Anders and hold him tightly while the dentist opened his mouth and peeked inside.
“But this time,” Saša remembered, “Anders sat in the chair by himself, opened his mouth, let the dentist not only look inside, but also brush his teeth with that spinning brush that used to scare the living daylights out of him — and he smiled after the dentist was done!”
Anders was able to take arbaclofen for nearly a year before the trial was discontinued. During that time Anders was calmer, more focused, more flexible, laughed more, and handled public settings (the dentist, doctor office and barber) with far more ease.
When finally the company sponsoring arbaclofen went out of business and the trial was discontinued, Anders began to slide backwards in just a few weeks. “It was painful to watch,” recalls Saša. “All the benefits he had enjoyed were disappearing. His anxieties, restlessness, and moodiness all resurfaced. We thought that these were gone, once and for all, but now they were back — and he, and we, were helpless.”
Thankfully, arbaclofen was similar to baclofen, an available drug. Knowing that in advance was a precursor for wanting to jump into the trial. “We trusted that the safety profile of arbaclofen would be similar to that of baclofen,” says Saša.
Anders’ developmental pediatrician knew about the trial and was willing to give baclofen a try.
“In the beginning, while the dose was low, we saw no significant improvement, but also no adverse effects. We continued to increase the dose,” Saša said. “Then, gradually, his anxieties started to lessen, his flexibility in his choices and behaviors started to increase — and he was able to go to the dentist again! We were thrilled! And this was on an available drug, a drug that was not going away.”
Anders is now 15 years old and attends New England Center for Children, a school for children on the Autism spectrum. He continues to take baclofen and the benefits are still measurable.
“He is far from cured, of course. If I had to pin down the percent of improvement overall, from where he was before baclofen (or arbaclofen), I would say about 30% or so. But that is a lot. A lot of anxiety and stress went away. He is able to focus much more, and learn as a result, and to feel comfortable in his skin,”Saša says with a smile.
Ander is very social; he greets people readily, remembers faces and names. He has a few friends, but he is not able to sustain joint play for long. But that has also improved with baclofen/arbaclofen. Prior to that, he only engaged in a form of parallel play.
“We have not seen increased improvement over time, with baclofen,” said Saša, “the benefit seems to have plateaued. He continues to progress, slowly, but at least some of those unhappy symptoms of Fragile X seem to be gone for good.
“We are very, very thankful to FRAXA, the researchers, and, first and foremost — you, our donors. Without your generous support of the research FRAXA is funding, the arbaclofen study, or any of the other studies and research would not have happened. Though the cure remains elusive, the large body of research that has been gathered at this point sheds more and more light on this disease and autism in general. We continue to count down to the day when Fragile X becomes yet another “minor disease”—an “annoyance”—as drugs to treat it become readily available.”