"My name is Joey. I am 9 years old, and I have MS." So begins the heartfelt story Joey Marra wrote and illustrated about his experience with multiple sclerosis, the potentially debilitating disease that affects the brain and spinal cord.
For years, MS was thought to be an adult condition. But researchers have come to the conclusion over the last few decades that children can get it and that cases are going undiagnosed.
What's more, researchers also believe that by understanding the rare pediatric form of the disease, they may gain insight into what causes multiple sclerosis, including potential environmental triggers.
Joey, of Sanborn, wrote about his ordeal in a story last year that was good enough to win the Making a Difference Activist for Kids Award from the National Multiple Sclerosis Society.
For children, MS poses more than frightening and disabling symptoms. Theirs is a lonely battle against the disease in which they are unlikely to meet other children with the same condition.
Pediatricians can easily misdiagnose them. Teachers can confuse the symptoms with laziness, a problem Joey and his family are trying to address. "I get tired all the time," said Joey during an interview at his home.
His mother, Carole, recently got his school, West Street Elementary, to bring in experts to do a staff training session on pediatric MS.
"By looking at Joey, you would not know he has MS. But he gets fatigued and can't control it and can get lost going to his classroom. They need to understand," Carole said.
Joey's book should be required reading for anyone who wants to know about pediatric MS from a child's point of view.
"My mom tells me to be strong and that my Aunt Shane is watching over me. She's in heaven. She is in a better place," he wrote in a section that preceded an explanation of some of the frightening tests he has had to endure.
"I had to go to the hospital a lot. I had a lot of spinal taps, MRIs, IVs and blood work. Spinal tap needles are very long - never have one awake. It really hurts," he continued in the book.
It all began in 2005, when he started to suffer headaches and lose his balance.
Joey and his mother sought help from experts in Buffalo and Philadelphia. They heard the same thing.
"Everyone told us he was too young to have MS," said Carole.
Indeed, the doctors told them that Joey probably had acute disseminated encephalomyelitis, or ADEM, and they were probably right.
The immune system defends the body against such foreign invaders as viruses or bacteria. Researchers believe MS is an autoimmune disease that causes the body to attack its own tissue. In the case of MS, the fatty protective myelin that surrounds nerve fibers and helps nerves send signals gets damaged.
MS symptoms generally are difficult to diagnose because they can vary from person to person. In children, they also seem to begin differently. Children often first come down with ADEM and its similar symptoms. Most children recover from ADEM, but some continue to experience the symptoms or the symptoms recur.
Without a laboratory test to confirm MS, it is the relapsing nature of the condition, the findings from MRI images and the ruling out of other possibilities that ultimately define a multiple sclerosis diagnosis.
"We look for multiple areas affected over time. This is the difficulty. You need to have a second event to make a diagnosis of MS," said Dr. Bianca Weinstock-Guttman of the Pediatric MS Center at Kaleida Health's Jacob Neurological Institute.
She said physicians nationwide soon plan to issue agreed-upon guidelines that will for the first time more concisely differentiate MS from ADEM.
The institute was one of six regional pediatric MS centers that received $13.5 million last year from the National Multiple Sclerosis Society to deepen the understanding of MS in children by pooling information and setting standards for care.
The institute is named for the late Dr. Lawrence D. Jacobs, a noted Buffalo neurologist whose research led to the development of Avonex, the drug most widely prescribed to treat relapsing multiple sclerosis.
The society estimates that there are 8,000 to 10,000 children with MS and as many as 15,000 others who have experienced symptoms that might be MS. That compares with an estimated 400,000 adults with the disease.
"Pediatric MS centers see so few patients that our data and experience about the disease in children is small and spread out," Weinstock- Guttman said. "We need to consolidate what we know and learn from it. We need to get exposed to more cases and different kinds of cases."
Most people with MS get diagnosed between the ages of 20 and 50. No one knows exactly why it occurs, but it's believed that genetics, gender and environmental triggers, such as a virus, play roles.
The fact that MS is rare in children may help identify an environmental trigger. Children have been exposed to far fewer environmental influences to examine as potential culprits. For instance, recent research suggests that people with higher levels of vitamin D have a markedly reduced risk of developing MS. Food is a source of vitamin D, and the body makes vitamin D through exposure to sunlight.
For the Marras, the greatest difficulty is not knowing what's in store for Joey.
He receives weekly injections of Avonex, one of a handful of medications available to control the progression of the disease, including Betaseron, Copaxone and Rebif.
MS appears to progress more slowly toward serious disability in children than in adults. But the risk that MS can disable someone so young increases the pressure on physicians to treat them as early as possible while making sure they truly have multiple sclerosis.
"There is no cure. We can only prevent MS," said Weinstock-Guttman. "The earlier you start, the better chance to preserve function. At the same time, you don't want to label someone with MS before you have a real diagnosis. Having MS, means a lifetime of medication."
Joey has kept a positive attitude about his illness. He's not a child who spends time feeling sorry for himself, a source of pride for his mother and a characteristic that comes through in his book.
"I am a kid with MS," he wrote in the conclusion, "but someday I will help other kids with MS."