Shopping for gifts and baking sugar cookies keeps many families on their toes during the month of December. But in the final weeks of 2008, Carson Genter lay flat on his back at Children's Hospital Central California. A 6-year-old at the time, Carson had contracted the H1N1 virus and it had progressed into pneumonia. “He spent about a week in the Hospital,” said Carson’s mother, Nicole Genter. He recovered completely and was discharged, but a short time later Carson began passing out. Genter contacted her son’s primary care physician to learn why.
“We’ll investigate the cause,” said Dr. James Horspool, medical director of the Charlie Mitchell Children’s Center at Children's Hospital. “Is there an infection, like meningitis? Are there structural malformations? Is the problem with the brain?” An MRI revealed a fairly common abnormality of the brain known as Chiari malformation. Carson had a structural defect of the cerebellum, the part of the brain located near the brain stem that controls balance.
“With Chiari malformation there’s a small descent of the cerebellar tonsils into the upper spine, compressing the brain and spinal cord,” said Dr. Meredith Woodward, pediatric neurosurgeon at Children’s. “The extent of deformity can vary as do the symptoms, but the extent of deformity doesn’t correlate with the severity of the symptoms.” Many people with Chiari malformation have no symptoms and do not require treatment.
At the time of Carson’s MRI, his Chiari malformation was not blocking the flow of cerebrospinal fluid, the clear liquid that surrounds and cushions the brain and spinal cord, and did not appear to be causing his symptoms. He began receiving treatment for a seizure disorder and was scheduled to return to Children’s every six months for an MRI to monitor his growth. Carson’s mother managed his seizures with daily medications, and dealt with other issues as well. Carson has autism.
“Autistic tendencies are going to play into every aspect of your life,” said Dr. Horspool. “But Mom has an incredible capacity to manage it well. There’s a level of trust she’s developed with her son, and it really helps him.”
Shortly after Carson turned 9 years old, his health problems intensified. “He didn’t want to go out in the sun because the light hurt his eyes,” said Genter. “He used to love being outside, but all of a sudden he would stay in his room and pull the blankets over his head.”
Carson’s speech slurred and he fell frequently. Genter later discovered her son had developed double vision. “Originally I thought it was a new kind of seizure,” she said of Carson’s unusual symptoms. “He would run into the door jam because he couldn’t figure out which door to go through.”
In mid-2011 Carson began projectile vomiting – the catalyst for another trip to Children's Hospital. His visit to the gastroenterology practice on May 16 quickly changed course. Carson’s dilated pupils combined with his other symptoms indicated possible brain swelling. Carson was sent to neurosurgery and admitted.
“Sometimes Chiari malformation plugs up the flow of the spinal fluid like a cork in a bottle,” said Dr. Woodward. “It’s called hydromyelia, and it’s like hydrocephalus of the spinal cord.” Carson required immediate surgery to relieve the pressure. The procedure, known as Chiari decompression surgery, provides the necessary pathway for the cerebrospinal fluid by creating more room between the cerebellum and the spinal column. Dr. Woodward performed the five-hour procedure the following day.
“They were awesome,” said Genter of the surgical team at Children’s. “They called me every hour on the hour to let me know what was going on.”
The Chiari decompression surgery involves making an incision at the base of the neck, removing the occipital bone from the skull and exposing the lower cerebellum. “We remove bone from the back of the C1 vertebrae, open the dura and enlarge the dural covering,” said Dr. Woodward. (The tough, fibrous layer of tissue protecting the brain and spinal cord is called “dura mater.”) “Then we replace the occipital bone at a slightly different angle to create more room.” Usually a one-time procedure, Chiari decompression surgery can cause immediate relief that parents see. “Often I’ll hear parents say, ‘He was already better in the recovery room,’” said Dr. Woodward.
Neurosurgeons at Children's Hospital Central California perform as many as 50 Chiari decompression surgeries a year, and always watch for the possibility of fluid buildup around the brain after the procedure. “A lot of the kids can have a very rocky course after surgery,” said Dr. Woodward. “We do approximately one Chiari decompression per week and over the past year only five of those did not require a shunt.” Neurosurgeons will insert a shunt into the head when necessary to drain cerebrospinal fluid away from the brain to where it can be absorbed naturally by the body.
Carson’s recovery proved extremely difficult and his symptoms indicated excess fluid on his brain. “Carson is autistic and doesn’t communicate his pain effectively,” said Genter. “He would say, ‘Someone’s pushing on my head from the inside.’” Dr. Woodward did not want to surgically insert a shunt unless it was absolutely necessary. She elected to give Carson a therapeutic lumbar puncture to relieve intracranial pressure by reducing the cerebrospinal fluid.
During this time Carson was developing kidney stones as a side effect of his seizure medication, and he also had problems with gastric emptying. “After taking in 4 ounces of liquid, his stomach took 90 minutes to empty,” said Genter. Carson needed to ingest large quantities of liquid to help flush the kidney stones, but he couldn’t keep anything down and completely lost his appetite. He received a nasogastric tube to provide necessary nutrition and hydration.
Carson’s health did not improve and Dr. Woodward still hoped to avoid another surgery. She gave Carson an external ventricular drain, which is far less invasive than a shunt but can drain more fluid over a longer period of time than a lumbar puncture. The temporary system uses a combination of intracranial pressure and gravity to drain cerebrospinal fluid into an external collection bag. The height of the bag relative to the patient’s position affects the drainage rate and must be closely monitored.
“The nurses were so on top of it,” said Genter. “They used a ruler to adjust it and make sure it was perfect.”
After a week with the external ventricular drain, cerebrospinal fluid continued to pool in Carson’s head. “On days when I was scared, they didn’t lie to me,” said Genter of the medical staff at Children’s. “They said, ‘Your son’s had a crisis.’ But they were so on top of it.” Carson’s mom noted the extra measure of care required due to her son’s autism. “The pain management people were wonderful!” she exclaimed. “They knew how to determine what he needed and make him feel better.”
“The amazing thing about Nicole is that she had every reason to feel frustration, but she was always very positive and grateful,” said Dr. Horspool.
“I’ve never been here at a loss,” said Genter of her time at Carson’s bedside. “I’ve never not had information I’ve needed and I’ve never not had a question answered. Mother’s intuition is a great thing, but it only gets you so far. You need tools, and the doctors and nurses have been amazing using those tools.”
On four consecutive Tuesdays, Dr. Woodward took action to help Carson. She performed the Chiari decompression May 17, followed by the therapeutic lumbar puncture the following Tuesday. One week later Carson received the external ventricular drain, and finally on June 7 Carson returned to surgery for a shunt.
“There was so much going on and they literally caught everything,” said Genter of the medical professionals treating her son. “They notice something’s wrong. They find out what it is. And they fix it. They are amazing. We’ve been here for two months and I have yet to meet a person who’s not completely committed.”
Even after Carson’s intracranial pressure was brought under control, his gastric emptying problem continued. Carson was taken into surgery a third time for a gastrostomy tube (G-tube), which would supply liquid nutrition directly to his stomach.
“The G-tube will be a huge help to flush the kidneys,” said Dr. Horspool. “The plan will be to manage him on an enteral formula and as oral intake increases, we’ll wean him from the formula.” Both Dr. Horspool and Dr. Woodward agree Carson is likely to make a full recovery and will not be dependent on the supplemental nutrition for long. “The G-tube incision will heal up and just be a little scar one day,” said Dr. Horspool. “About the only thing it will do is disqualify him from being a swimsuit model.”
“He was ‘scary’ ill for about two weeks, but it seemed like two years,” said Genter. “It’s been a journey and it’s been hard, but Children's Hospital gave me back my son.”
One outcome of Carson’s Chiari decompression surgery came as a complete – and welcome – surprise. Ever since his first fainting spell in the days following his recovery from H1N1 and pneumonia, Carson suffered catatonic seizures. When he began taking medication to control them, they dropped in occurrence from once daily to once every three days. But they did not cease. “He was on two meds and still had seizures,” said Genter. Routine MRIs never connected the cause of Carson’s seizures to the Chiari malformation. No one ever suspected otherwise. “We’ve been here two months and a week,” said Genter, referring to her son’s extended hospital stay. “And he hasn’t had a single seizure. Not since his surgery on the 17th.” Even more surprisingly, Carson had not taken his seizure medication since being admitted to Children’s.
With or without seizures, Carson has made a dramatic recovery. “When I brought him in here he was falling down, he was in pain, and he didn’t always know how old he was,” said Genter. “Trying to say thank you is not enough. This place is a gift not just for the children, but for the parents.”
Nearly three years ago Carson spent one week of the holiday season at Children's Hospital Central California. He didn’t visit in December this time, but the Hospital enjoys giving the gift of improved health every month of the year.