ETHAN - An Ethan girl is recovering at home from a major brain surgery brought on by what initially was thought to be "normal kid stuff."
"Sometimes leg pains aren't growing pains, and numbness isn't tendinitis," said LaRissa Donaldson, mother of 6-year-old Mia Miiller.
Leg pains often had disrupted Miiller's sleep, and her parents knew she had scoliosis, but it wasn't until her second year of dance and gymnastics classes that they realized they were dealing with a whole lot more.
"I noticed her balance just kept getting worse. She used to be really good (at plies), and then it was terrible," Donaldson said. "She used to do perfect somersaults, and then, all of a sudden, she was way off in no-man's land, and she couldn't stay on balance beams."
Thinking her daughter needed a spinal adjustment, Donaldson took her to the chiropractor in February. He noted that one of Miiller's shoulders drooped much lower than the other, and one side of her neck was significantly thicker. After referral to a pediatric orthopedist and an MRI, she was diagnosed with stage III, type I Arnold Chiari malformation, as well as stage III syringomyelia, which is a side effect of Chiari.
With Chiari, "a portion of the lower back-part of the brain (cerebellum) or the brainstem extends through an abnormal opening in the back of the skull," according to the Mayo Clinic.
Symptoms of type I Chiari start out small and become more noticeable as a patient ages. Often, it is not diagnosed until adolescence or adulthood.
"Chiari malformation type I is usually not associated with other neurological abnormalities, although it can cause neurological symptoms due to compression of the brainstem and spinal cord," according to the National Organization for Rare Disorders.
As with many type I Chiari patients, Miiller grew and met or exceeded every milestone doctors use to measure children's development as an infant and toddler.
But as she got bigger, so did the syrinx at the base of her brain, caused by the syringomyelia. This cyst-like pocket of cerebrospinal fluid can cause neurological symptoms, including the burning sensation that had been assumed to be growing pains when Miiller was a toddler. By the time it was found, the 15-millimeter cyst had tripled the width of Miiller's spinal column.
"She's got one of the larger ones that they've seen" in Sioux Falls, Donaldson said, adding that syrinxes can be larger in adults who are unaware of their condition. "For her to have one that big at this young of an age ... we had to do surgery" right away, because even the smallest of traumas to her head and neck could have paralyzed her.
On April 30, Miiller was admitted to Sanford Children's Hospital for the hour-long decompression procedure to remove a section of the base of her skull and her first vertebra. Her neurosurgeon also drained the syrinx, patched her spinal cord and cauterized her cerebral tonsils, in the hope that it would shrink her brain back up into her skull. The recovery was tough.
"They were very open with us that this is a painful procedure, because they're cutting through the big muscles in the neck," Donaldson said.
"The first two days in intensive care, all she did was cry in pain," Miiller's father, Ron Miiller, added.
"It was horrible to watch," Donaldson recalled.
Though Miiller suffered a leak of her cerebrospinal fluid, caused by the pressure in her head from vomiting due to a combination of pain, anesthesia and narcotics, she was released from the hospital on the fourth day following her procedure. Now, she battles migraine-like headaches early and late in the day, and she takes a pill to reduce her body's CSF production.
"We know when it's time for her medicine because" the headache increases and the fluid creates a lump at the base of her skull that moves up and toward her eyebrows, Donaldson said.
Miiller's last day with her kindergarten classmates at Ethan Elementary was April 29, the day before her procedure. Her family has helped her with worksheets, and she will make up more schoolwork in July. She plans have a low-key summer, avoiding any activity that could jolt her head or spine. She is unable to run, climb, swing, ride bike, jump rope, play ball or do most things that children do during vacation months. Instead, she spends her days reading, playing games, watching movies and using the family's iPad, in the hope that her CSF leak will heal itself and she can resume a normal lifestyle by the time her class begins first grade in August.
Her mother is cautious when brushing her hair - especially around the nape of her neck, where a four-inch scar marks the neurosurgeon's access point to the brain and spine. Her head is surrounded by pillows whenever they travel, for fear of a sudden stop or an accident causing head trauma that could have a serious impact.
"We've always had precious cargo anyway, but she's just extra special now" that they know the risk of head trauma, Donaldson said with a smile.
Recently, Miiller spent time at Ethan's community Bible school, and she has begun spending a little time at day care, where she plays quietly in a room separate from most of the children, but can enjoy being around them.
"She cried when we said she couldn't go back to school, and she cried when I said I didn't know if she could do Bible school this year, but I finally decided it's church - how wild can church get? Then, I found out there were 60-some kids," Donaldson said with a laugh.
An older child was assigned to protect Miiller from accidental bumps each evening, and she participated to her ability. The week was a lot for her and resulted in a couple of days of vomiting and intense headaches, but her mother said it helped Miiller to be around her peers.
"She turned gray, and I saw her forehead turn blue" during the program's concert Thursday evening. "You can see a blue line go across her forehead when she swells up, and I told Ron that maybe I should go take her out, but she smiled at us, and we knew she should stay up there."
Next month, Miiller will discontinue the medication that limits her CSF production, and her family will know within 12 hours whether the leak has healed. If it isn't, a fluid pocket will make its way from the base of her skull up to her forehead, and she will become nauseated. If that happens, another MRI will be performed, and she will either continue the medication or a second operation will be performed to repair the leak.
Miiller's neurosurgeon told her parents that 80 percent of decompression procedures are successful. But, given the severity of her case, Miiller's prognosis is unclear. And, even if she heals perfectly, the success could be temporary.
"She could get the syrinx back," and the decompression could have to be redone and a shunt placed to drain the CSF. "And she still has the scoliosis" to deal with, her mother said. "The problem with her scoliosis is that it's so far up into her back that they can't brace her. If it continues to curve after all this, then we look at having to have treatment done on the scoliosis, which is rods or fusions."
"There's some evidence that Chiari malformation runs in some families. However, research into a possible hereditary component is still in its early phase," according to NORD.
Though brain and spine conditions like Chiari malformation and syringomyelia are rare in the general population, they are not so uncommon in the Donaldson side of Miiller's family.
Her oldest sister, Shelby Donaldson, was diagnosed with tuberous sclerosis as a child and underwent an operation at age 2 to remove a tumor from the front of her brain. MRIs on Shelby and middle sister Lacee Donaldson have proven they are clear of Chiari, but LaRissa Donaldson is not so lucky.
Four years ago, in her mid-30s, Donaldson saw her doctor, complaining of numbness and pain in her extremities and was diagnosed with Chiari. She does not have major complications, such as the syringomyelia. Despite her diagnosis, until recently, Donaldson laughed off her increasing memory loss and thought-processing issues.
"I've always called it 'Three Kid Syndrome,' but when we started talking with Mia's doctor, he said that's classic Chiari," Donaldson said.
But, even with Miiller, the family doesn't have to look too far to see how much worse they could have it. Donaldson's 3-year-old niece has Chiari, along with more than 20 different health issues, including syringomyelia, encephalitis, spina bifida and a tethered spinal cord, all of which are complications of Chiari, according to the Mayo Clinic.
"We call them the Chiari cousins," Donaldson laughed.
That cousin, Emberly Meyer, has undergone two decompression surgeries for her Chiari and is paralyzed from her knees down. Her syrinx presses upon her spinal cord and airway, so a tracheostomy has been placed, and her parents connect a bag and squeeze air into her multiple times a day to keep her breathing. The bottom portions of her lungs have collapsed, and she has a feeding tube because she struggles to swallow and aspirates when she does.
"This disease can be serious," Donaldson said. "We hope that we never get to that point, because one child in our family having to deal with it is enough."