Infantile Spasms

Nicole Parker still remembers where she was sitting when the phone call came. The couch in the living room is still there. The floor is now covered by colorful pieces of foam tile, where her 16-month-old daughter Aubrey plays.

It was an April day. For five months, Parker had suspected that there was something wrong with Aubrey. And on that day a voice on the other end of the phone gave her the answer: Aubrey had infantile spasms.

"I just lost it," she said recently. "I knew it, but I wasn't ready to hear it."

Infantile spasms is a relatively rare seizure disorder in infants. Some estimates show that one in 1,000 infants have IS. Its onset is usually between 3 and 6 months. The typical signs are a sudden bending forward and stiffening of the body, arms and legs, according to the National Institute of Neurological Disorders and Stroke. Individual spasms last only a few seconds and occur in clusters, ranging from 2 to 100 spasms at a time.

But because the infants' movements are not well-controlled, the condition is sometimes mistaken for reflux or simply goes undiagnosed, marked up as the parents' imagination or just something that the infant will grow out of.

Yet infantile spasms is a serious condition, and if untreated it could turn to epilepsy in later years and lead to significant learning disabilities and other seizure disorders.

There are a wide range of causes for IS, including a genetic condition called tuberous sclerosis complex. Sometimes the cause is unclear. Though there is no cure for IS, there are treatments that have proven effective in 60 to 80 percent of cases.

Dr. Paul R. Carney, a pediatric neurologist in the Department of Pediatrics at Shands at the University of Florida, estimated that nearly 1 percent of children in Florida have epilepsy that's not well controlled.

He suspected that many babies' seizures begin with infantile spasms.

Parker noticed the first signs when Aubrey was almost 4 months old. She would flail her arms out "as if she was startled. [She would] then bring her head and knees towards her chest while bulging her eyes," Parker recalled. With Aubrey being her first child, she reasoned that the 4-month-old would grow out of it.

Then, she noticed another strange movement. While playing, Aubrey's head would sometimes "drop so quickly and then pop right back up as if nothing had happened. Then a few seconds later she would do the same thing. This would go on for a good three to five minutes long and then she would get very sleepy afterwards," Parker explained.

Family and friends weren't sure what to tell Parker. That was until her parents, who now live with Nicole, and her husband, Cody, saw the head drops, too.

But getting Aubrey diagnosed turned out to be a frustrating process for the Parkers.

The Parkers had to go to two pediatricians until they received a definite diagnosis - on that April day - from the pediatric neurologists at Shands. The first doctor said there was nothing wrong with Aubrey. The second saw the signs and referred the Parkers to specialists at Shands.

"Most pediatricians recognize it, but it depends on their training and background," said Carney, of Shands.

"The condition is sometimes underdiagnosed and underrecognized," he said.

In addition, a lack of research done on children's brain disorders for now limits the available treatment to a steroid called ACTH, for adrenocorticotropic hormone. The drug has proven effective in many cases, but it has its side effects.

IS also affects the infants' development, especially when it's not treated. At 8 months, Aubrey scored at a 1-month-old's level. But after ACTH treatment last year, and a regular regimen of physical therapy, she's catching up, although at 16 months she's not yet walking.

Nicole Parker, who is studying to become a pediatric physical therapist, is now thinking about starting an infantile spasms foundation to raise awareness about the condition and eventually raise funds for parents with no insurance.

The cost of three vials for ACTH is more than $100,000.

Aubrey improved for several months, but her seizures returned again in December, and she recently finished her second round of ACTH treatments.

"Now we'll wait and see what happens," Parker said, watching her cheerful little girl crawl around the living room.

"I always knew I was strong, but this little girl is 10 times stronger than me," Parker said.