Chiari malformations are structural defects in the skull that can cause serious problems.

These malformations are thought to be rare, affecting about one in 1,000 people. But new and improved diagnostic imaging suggests it may be much more common than previously believed.

One courageous teenager is doing all she can to fund research for this condition.

“There’s not a day, there’s not a minute that goes by that I’m not reminded about what I’ve been through,” Cameron O'Keefe says.

As a young girl, Cameron developed severe pain in her side and numbness on the left side of her body.

“I put my hand under hot water and I couldn’t feel it with my left hand,” she explains.

After too many doctors couldn’t tell her what was wrong, she found Dr. David Limbrick.

“I was told I had to have brain surgery like two weeks later. And I was 11,” Cameron recalls.

She had Chiari malformation. A portion of her cerebellum had come through the base of her skull, into her spine.

“It can be associated with the collection of fluid within the spinal cord very commonly, and that can cause problems,” Limbrick explains.

Problems like numbness, tingling, severe pain, headaches and deformities like scoliosis. Decompression surgery can help.

“Where we remove the back portion of the frame and magnum, which is the base of the skull and, as necessary, the back portion of the upper bones in the neck,” Limbrick explains.

Before surgery, Cameron’s spine was filled with fluid.

After surgery? It’s gone.

“The goal is to treat them early enough where the numbness improves, or the pain improves, or the weakness improves,” Limbrick explains.

“I feel great. I’m so thankful for it,” Cameron says.

To show her thanks, Cameron published a book of uplifting quotes last year. She did the artwork herself.

Cameron has sold more than 100 copies. She’s donating all proceeds to Limbrick’s research. She wants kids like her to know they’re not alone.

“I wish I could give the book to me, 11-year-old me,” Cameron says.

Cameron is now chasing her dreams at Savannah College of Art and Design, and she’s already working on book number two.

The Little Book of Simple Sayings is Cameron’s book, and

A large randomized clinical trial is currently underway to figure out which of the two primary surgeries for these malformations is the most effective for patients with the fewest side effects.

Other research is looking at what genes are involved so doctors can better understand the history of the condition and who will best benefit from surgery.

TEEN SURGERY PATIENT GIVES BACK IN A BIG WAY

REPORT #2579

BACKGROUND: Cameron O’Keefe was told she had a chiari malformation at age 11. That is a structural defect in the area of the brain responsible for controlling balance (the cerebellum). Specifically, when a portion of the cerebellum, known as the cerebellar tonsils, is situated under the funnel shaped opening to the spinal canal, it is known as a Chiari malformation. The cerebellar tonsils can interfere with the movement of cerebrospinal fluid between the skull and spinal canal. The interference can result in the collection of cerebral spinal fluid in the subarachnoid spaces of the brain and spine. The resulting increase in pressure on the brain and spinal cord from the accumulation of cerebrospinal fluid can lead to hydrocephalus which manifests in a wide range of symptoms. Chiari malformation is categorized as Type I, Type II, Type III, Type IV and Type 0 on the basis of the anatomy of the brain tissue pushed into the spinal canal and whether developmental abnormalities of the brain or spine exist. The condition is more prevalent in females and it occurs mostly during fetal development.

(Source: https://csfinfo.org/education/patient-information/chiari-malformation/)

SYMPTOMS AND DIAGNOSIS: People who develop Chiari later in life do so because of a brain mass or excessive drainage of cerebrospinal fluid as a result of injury, infection or exposure to toxic substances. The symptoms of Chiari malformation and its severity vary from person to person. Many people with Chiari do not show any signs of the disorder, while others can experience some of the following symptoms: vision-related problems (double vision, blurred vision, involuntary eye movements, excessive sensitivity to bright lights), numbness, muscle weakness, stiffness or pain in the neck or the back of the head, cranial nerve compression leading to apnea and swallowing difficulties, diminished sensation in the arms and legs, and issues with balance and coordination. Medical professionals diagnose Chiari from information sources such as the patient history, observation of symptoms, clinical assessment and diagnostic tests such as x-ray, MRI, CT scan, brainstem auditory evoked response, somatosensory evoked potentials, and myelogram.

(Source: https://csfinfo.org/education/patient-information/chiari-malformation/)

TRADITIONAL VS. MINIMALLY-INVASIVE TREATMENTS: When it comes to Chiari malformation treatment, there are generally two approaches a surgeon may use: traditional surgery or minimally-invasive treatments. Traditional surgical procedures are what you would think of as open surgery and include Chiari decompression surgery and cervical laminectomies. However, new advances in technology and techniques have made minimally-invasive treatments possible. In a minimally-invasive surgery, the surgeon uses specialized instruments that allow him or her to make smaller incisions and disrupt less of the surrounding tissues. Most patients who are candidates for traditional surgery are also eligible for minimally-invasive approaches. In fact, many Chiari malformation specialists have come to prefer using minimally-invasive treatments because they are just as effective as traditional surgery, with increased benefits to patients. As a patient, minimally-invasive treatments means that you can expect to experience less bleeding, less pain and a shorter recovery period. You will likely require less pain medication and/or need medication over a shorter duration. You may also be able to return to work and resume your normal activities more quickly, although recovery is a very individual process and varies from patient to patient.

(Source: https://www.neurosurgeonsofnewjersey.com/chiari-malformation-treatment-adult-options/)

To contribute to Dr. Limbrick’s research, purchase Cameron’s book, The Little Book of Simple Sayings, on Amazon,