To the average observer, Paula Crammer, 33, and James Smith, 12, both of Hagerstown, don’t look sick.

And other people make a point to let them know.

Crammer has read nasty notes left on her car windshield when she’s parked in the handicapped spot — even though the appropriate decal is clearly displayed.

James has heard the teasing from other kids when he tells them he can’t participate in sports because a bump on the head could be very bad.

“They just think I’m normal,” Crammer said sitting in her living room with James and his mom, Dana.

That’s why Crammer, with help with James, is hoping to make more people aware about Chiari malformation.

“People need to be educated,” Crammer said.

What is Chiari malformation?

Chiari (pronounced kee-AR-ee) malformation is a structural defect in the cerebellum, which is the part of the brain that controls balance, according to the National Institutes of Health’s National Institute of Neurological Disorders and Stroke (NINDS).

The cerebellum and parts of the brainstem, for most people, sit in an indented space at the lower base of the skull right above the foramen magnum, an opening to the spinal canal.

If any part of the cerebellum is below the foramen magnum, it is called a Chiari malformation, or CM. The NINDS reports that CM may develop when the bony space is smaller than normal. This may cause the cerebellum and the brainstem to be pushed downward into the foramen magnum and into the upper spinal canal.

For the person who has CM the side effects of the disorder might often results in unbearable headaches and other neurological problems from the pressure of the cerebellum and brainstem pushing down on the foramen magnum. The pressure often blocks the flow of cerebrospinal fluid to and from the brain, the NINDS reported.

Crammer said doctors aren’t really sure what can cause the neurological disorder. A child may have CM because of a genetic mutation or lack of prenatal care. Or it can be caused later in life sometimes due to injury or infection. But doctors and researchers are still unsure.

NINDS reports that CM has been found in one in every 1,000 births. But with newer diagnostic imaging, CM may be more common than once thought.

One famous face living with CM is country singer Rosanne Cash, daughter of Johnny, who announced in 2007 she has Chiari malformation.

Crammer’s diagnosis

In 2000, Crammer noticed she was having occasional numbness from the waist down. She also had severe headaches. At least, she thinks they were headaches. She said she wasn’t certain, because she had never had one before.

“It was like I could trace (the pain) with a crayon,” she said drawing a line across temple to the base of her neck.

She was tested. There is no blood test for CM. The only way to diagnosis it is using an MRI, which confirmed she had Chiari malformation.

In November 2007, Crammer was in a car accident during which she lost consciousness. She’s unsure if she hit her head, but after the accident she had pain, mostly around her head and spine, that lasted for nearly four months. Then she started losing consciousness at work.

“I was out, but I could still hear people around me,” she said.

She eventually had to leave her job and go on disability.

Today, she has problems moving her neck to the left or right — like having a perpetual, painfully stiff neck.

In addition to Chiari malformation, Crammer was also diagnosed with syringomyelia. According to the American Syringomyelia Chiari Alliance Project, syringomyelia is a chronic disorder of the spine. Not everyone who has CM can develop syringomyelia, but the site reports that what happens is the cerebrospinal fluid gets into the inside of the spinal cord and forms a cavity called a syrnix. This cavity expands and elongates over the patient’s lifetime and destroys the spinal cord. In its wake it can leave many painful side effects.

For Crammer, it is muscle atrophy on her left hand.

The combination of both disorders means pain.

A serendipitous meeting

James’ mom, Dana Smith of Hagerstown, was working with Crammer when she learned of her coworker’s diagnosis.

“That was the first time I heard of Chiari,” Smith said.

But it would be years before Smith would know how important her education about CM would be.

In 2005, her son was diagnosed with scoliosis.

“One shoulder was higher than the other,” Smith said as James sits beside of her.

Although he was seeing doctors, the scoliosis worsened. He was also complaining of leg pain. James said he had to get up and run around to relieve it.

In April of 2007, doctors ordered an MRI for James. That’s when doctors started mentioning Chiari malformation.

A trip in June 2007 to Johns Hopkins Medical Center in Baltimore to see a neurologist confirmed the CM diagnosis.

Limitations of CM

Those with CM must learn to protect their skull, Crammer said. That means no blows to the head — even what seems a small of a tap.

James, a seventh-grader at Western Heights Middle School, still must be careful when playing. It’s tough for a pre-teen who’s not allowed to horse around.

“My brother tries not to let me play football,” he said.

Dana Smith smiled. “His brother is protective,” she said.

She admits, too, that’s she’s had to be overprotective to make sure James is safe.

“Right now there is no contact sports,” she said.

But she also realizes that he’s 12 and he wants to do things that other kids his age do. Smith said she allowed him to go roller skating, but he fell and ended up with a concussion.

Some kids at school have teased him for not participating in some of the activities other kids did.

“Some of my friends will stick up for me. They know I have (CM) and why I don’t do some of the stuff they can do,” he said.

Ignorance about the disorder is the biggest obstacle the Smiths said they have to overcome.

“(CM) is not contagious,” Dana Smith said.

The correct approach

CM can be surgically corrected, at least partially. In January 2008, noted pediatric neurologist Dr. Ben Carson operated on James. During the surgery, James’s cerebullum and parts of the brainstem were pushed above the foramen magnum.

“He’s basically done with surgeries,” Smith said. “He’ll have to have a lot of MRIs.”

James might have to undergo surgery for his scoliosis, but those for the CM are over — as far as they know. But both she and James know it is something he will have to deal with the rest of his life.

“It’s something you can’t get rid of,” James said.

For adults, Crammer said it’s harder. Johns Hopkins deals exclusively with children. Crammer said she found the Chiari Institute in New York state for her care. It took her years to get an appointment, which she had in September of this year.

“I walked in and it was like talking to my mom,” Crammer said. “ … It was like somebody finally understood me.”

As for surgery for herself, Crammer is unsure. She said the surgery will happen, but she’s scared.

“I’ve never had surgery before,” she said.

When she’s ready, she’ll have to call Chiari Institute to schedule her surgery date. It will take about three to six weeks to get an appointment.

Another help for Crammer has has been through support groups. She talks to friends both online and in person. She also volunteers with www.wishesandrainbows.org, which financially helps people with medical bills.

The future

Crammer said she’s also trying to educate people about CM. One way was getting Maryland Gov. Martin O’Malley to proclaim September as Chiari Malformation Awareness Month as a way to educate the community.

“It means too much, that I can’t even put it into words,” she said.

As for James, he wants to be able to help other people with Chiari malformation, too.

“I want to be a doctor so I can help other people who have (Chiari malformation),” he said. “And I think I can help people better if they have a doctor who has it.”