Banishing the wiggles
A family found hope at UF Health for treating a child’s rare genetic condition.
By Morgan Sherburne
Just a few weeks into Laura Tobia’s life, she started crying and didn’t stop until she was a toddler.
Later, physicians told Laura’s parents that Laura, now 9, was probably suffering from neurological colic — meaning her nervous system was constantly being stimulated.
“She was miserable for two years,” said Marla Tobia, Laura’s mother.
This explanation came years after caring for a child who couldn’t get comfortable. It came after years of the Tobias searching for the name of an illness that caused that discomfort — an illness that, after the crying resolved, brought on a whole new set of symptoms: what the Tampa family calls “the wiggles.”
When Laura was 2, she began experiencing bouts of movements similar to Parkinson’s. Some bouts were more severe than others.
When a bout of the big wiggles comes on, Laura looks like she’s having a seizure, but she’s fully aware of what’s happening.
“We’ve always been looking for what’s wrong and what we can try to do to treat it or fix it,” said Scott, Laura’s father.
Doctors at first thought she had a mitochondrial disorder. But the Tobias’ neurologist in Tampa suspected something else. Marla, a neonatal nurse practitioner at All Children’s Hospital in St. Petersburg, is surrounded by people in the medical community. The Tobias eventually were referred to a physician in Houston.
By that time, Laura was 7, and genetic testing had just become more widely available, though it was still considered experimental, Marla said.
With this testing, the Tobias found that answer: A gene, called ADCY5, that researchers have been studying since the late 1970s. In Laura, the gene spontaneously mutated, causing not only a mitochondrial disorder, but also a very rare genetic variant of dystonia, said Michael S. Okun, M.D., a co-director of the Center for Movement Disorders and Neurorestoration.
“In Laura’s case, these lightning-like jerks are called myoclonus. In these storms of movement, called dystonic storms, the arms and legs flail,” Okun said.
Researchers had found that the gene can cause Parkinson’s-like movement disorders in mice, but hadn’t identified any people with the mutation. With the diagnosis of Laura and two other girls within a six-month period, that changed.
“Now that they know what this gene does in humans, researchers from all over the world are using our daughters as a benchmark,” Marla said.
After their daughter’s condition was identified, the Tobias tried several different medications.
Laura reacted badly to one medication. A second worked for a month, and then stopped. A third, which cost them $2,800 monthly, worked for a few weeks and stopped again.
At that time, a movement disorders specialist suggested they consider a surgical approach.
“He said, ‘You’ve got someone in your backyard,’” Scott said. “That’s when my wife emailed Dr. Okun.”
Okun and neurosurgeon Kelly D. Foote, M.D., fellow co-director of the Center for Movement Disorders and Neurorestoration, pioneered deep brain stimulation at UF. Deep brain stimulation is a surgery in which small electrodes are implanted into a patient’s brain. These electrodes, called leads, deliver stimulation to areas in the patient’s brain that are involved in movement, overriding the problematic signals. It has been used in patients with Parkinson’s disease, Tourette syndrome and dystonia, among others.
“I was skeptical. There was no way in the world I was letting that happen,” Scott said. “I came out of the meeting with Dr. Okun saying, ‘When can we schedule the surgery?’”
Laura underwent her first surgery in April, becoming one of the first people in the world to be treated with DBS for this particular syndrome. In May, Foote implanted the pack that controls the leads and turned on the device.
Because the disorder is so rare and the gene that causes it was so recently identified, doctors are still determining both exactly where the leads should be implanted in the brain and the particular settings that should be used for each patient using DBS.
“Here at UF, we’ve done more than 1,000 cases of DBS, and we’ve done a lot of cases of dystonic syndromes,” Okun said.
“We took an educated guess based on our other experience with uncommon dystonias that have similar features to this young girl’s syndrome.”
Since the procedure, Okun and Pam Zeilman, ARNP, say Laura’s “wiggles” have improved. The Tobias also have noticed improvement.
“In the first month, we’ve already seen suppression of these dystonic storms and some of these lightning-like jerks. So far, so good, but time will tell in terms of outcome,” Okun said.
The researchers hope identifying Laura’s disorder will help them to better understand the disease and help guide treatment for future patients.
The Tobias are happy to finally put a name to their daughter’s disorder, but are even happier that identification of the disease means they can treat Laura’s symptoms.
“I feel like if we can get the symptoms going away, even if it’s just a percentage, that would help,” Scott says. “She wants to do things that normal kids do. She likes to play baseball. She likes to be a little cheerleader.”
Laura also hopes for a “normal”-kid gift if her treatment goes well.
“She wants a regular bike with training wheels,” Scott says. “She has a tricycle that we had made for her with straps so she can’t fall out of it. But she just wants a regular bike.”