12 year old girl finally learns cause of recurring headaches

By Melissa Hargrave

Twelve-year-old Emily LeBlanc was recently diagnosed with Type 1 Chiari Malformation after a lengthy battle with recurring headaches situated at the base of her skull.
Chiari Malformation is a condition where the lower parts of the brain, in Emily’s case the tonsils of the cerebellum, falls into the foramen magnum which is the funnel shaped opening of the spinal canal.
When Emily’s headaches first started nine months ago, her mother Donna initially dismissed it as puberty related. Once the sixth grade Rene Rost Middle School student began to complain on a daily basis, Donna scheduled an ophthalmologist appointment. Dr. Billingsley, at the LaHaye Eye Center, was immediately concerned after discovering two shadows on Emily’s eye during a peripheral field vision test. LeBlanc was referred to her primary care physician, Dr. Bergeron, who ordered an MRI. The results showed a white spot on the young girl’s brain.
This news was troublesome for the LeBlanc family. Emily’s mother Donna recalls, “Being a typical mom, I just fell apart! It could have been such a variety of things like multiple sclerosis or muscular dystrophy.”
Emily was then referred to pediatric neurosurgeon Darric Baty at the Children’s Specialty Clinic in Lafayette. On October 7 of this year, the LeBlanc family finally received a diagnosis on their daughter – Chiari Malformation Type 1.
Armed with only a name and no formal knowledge, Donna and her husband, Tony, set out to educate themselves on this little known neurological disorder.
Chiari Malformation presents itself in many different forms. All involve the bottom part of the brain being pushed into the opening of the spinal column in some degree or fashion. This can happen due to genetics or because the brain grows quicker than the skull. As a result, cerebrospinal fluid (CSF) can become blocked and certain neurological functions can become impaired. Possible dangers include hydrocephalus (water on the brain), spina bifida, syringomyelia (the formation of a CSF filled cyst on the spinal cord), tethered cord syndrome (where the spinal cord attaches to the spine), and spinal curvature.
According to the National Institute of Neurological Disorders, Chiari Malformation symptoms can include, “neck pain, balance problems, muscle weakness, numbness or other abnormal feelings in the arms or legs, dizziness, vision problems, difficulty swallowing, ringing or buzzing in the ears, hearing loss, vomiting, insomnia, depression, or headache made worse by coughing or straining.
Hand coordination and fine motor skills may be affected. Symptoms may change for some individuals, depending on the buildup of CSF and resulting pressure on the tissues and nerves. Persons with a Type I CM may not have symptoms.
Adolescents and adults who have CM but no symptoms initially may, later in life, develop signs of the disorder. Infants may have symptoms from any type of CM and may have difficulty swallowing, irritability when being fed, excessive drooling, a weak cry, gagging or vomiting, arm weakness, a stiff neck, breathing problems, developmental delays, and an inability to gain weight.”
Her symptoms include persistent headaches, clumsiness, urinary issues, fatigue, and a tendency to choke even when she isn’t eating.
LeBlanc now has to undergo a series of tests to determine the severity of her condition. She will have a sleep study to test for central sleep apnea which is where the brain does not communicate with the lungs while unconscious. Emily will also undergo a swallow study due to her tendency to choke, an MRI with and without contrast of the head and spine, and an SSEP test to determine if the electrical impulses from her brain to her spine are being compromised. In addition, she will be under the care of a neurologist for the headaches, and an ophthalmologist to check for fluid build up behind her eyes.
In some cases, surgery is required where the first vertebra is removed and the cerebral tonsils are shrunk in order to properly fit into the intended space. The LeBlanc’s have already decided that they will go through with the surgery, if it is deemed necessary, because the pros outweigh the cons.
Being only 12, Emily is still trying to process the diagnosis. She admits to feeling shocked at first, but still continues to feel hopeful for the future. Her immediate thoughts are about all the upcoming procedures. The sixth grader reveals, “I think I’ll be okay with all the tests, because I will be asleep for most of them.”
The message that Donna hopes everyone can walk away with, is that parents should listen when their children complain no matter how harmless the symptoms may seem. She comments, “I want to get it out there to take your kid seriously, don’t just blow it off as growing pains. We were lucky enough that is isn’t life threatening, but it is something that will impact the rest of her life.”
Emily is the oldest daughter of Tony and Donna LeBlanc. The LeBlanc family, along with younger daughter Noelle, resides in Kaplan.