Kiley Smiles Through Rigors of Rare Disorder
Lake Zurich nine-year-old suffers from Alternating Hemiplegia of Childhood (AHC).
Like many other families, the Andrascos of Lake Zurich enjoyed their Christmas holiday. Their 11-year-old son Ryan and nine-year-old daughter, Kiley enjoyed their time off from school, although Kiley likes school so much that she was happy to return after the New Year.
"I got an iPod for this year," Kiley said. Considering how much she enjoys music, it's a gift that she will undoubtedly enjoy. "I can sing with my new microphone, too."
In many ways, Kiley is typical for a girl her age. She enjoys playing outside. "I like to play in the snow," she declared. And she looks forward to seeing her grandparents. "I like it when they come here, but it's fun to go visit them, too."
In other ways, Kiley is practically unique; she suffers from Alternating Hemiplegia of Childhood (AHC), a neurological disorder that’s so rare there are just three or four other children in the surrounding area who are afflicted with it.
"We have a walkathon for AHC every September at Paulus Park," said Kiley’s mother, Kelly. "We raise between $30,000 and $35,000 each walkathon. And we've also raised a lot of awareness for AHC through the walkathons.”
That event is one of the ongoing bright spots for the Andrascos. But there also have been numerous rough patches during Kiley's nine years, as she and her parents have learned to cope with and adjust to this rare and mysterious disorder that has been diagnosed in just 600 people worldwide and wasn't officially recognized or acknowledged by the medical community until 1971.
Right after Kiley was born, she began experiencing AHC episodes, which are similar in nature to epileptic seizures. When her parents consulted a neurologist, he diagnosed Kiley as having epilepsy when she was three-months-old, a common mistake because of certain shared characteristics between the two disorders.
He subsequently prescribed a range of medications intended to subdue or minimize epileptic seizures; all of the drugs that were prescribed—which included the barbiturate Phenobarbital—were relatively strong sedatives that kept Kiley in a state of constant drowsiness.
"It was very frustrating," said Kelly, "because from very early on we had doubts about the diagnosis. When we would discuss it with Kiley's neurologist, he was zoned in on her having epilepsy, and treating the symptoms for epilepsy."
Part of the problem is that there are only seven physicians in the entire country who are familiar enough with AHC to make a diagnosis, and the Andrasco's neurologist at Children's Memorial Hospital in Chicago isn't one of them.
Complicating things further was the neurologist's assumption that the partial paralysis Kiley was experiencing was Todd's paralysis, a temporary condition common among epileptics. In fact, Kiley was afflicted with the partial paralysis that accompanies an AHC episode, which generally lasts much longer than Todd's paralysis.
"For the first 18 months of Kiley's life, we were giving her various epilepsy meds that weren't addressing her symptoms, because she doesn't have epilepsy," said Kelly.
Frustrated by what they increasingly suspected was a misdiagnosis, the Andrascos decided to ratchet up their pro-activeness. "It was about a year after Kiley's diagnosis that Gene and I decided to go on the Internet," recalled Kelly.
By researching a number of childhood disorders online that shared similar symptoms with those that Kiley was experiencing, Kelly and Gene struck pay dirt when they came across AHC.
"We went through all of the various illnesses online, and AHC stuck out," said Kelly. Once they felt confident that they had discovered what Kiley was actually suffering from, they shared their information with Kiley's neurologist.
The first year-and-a-half of Kiley's life was especially stressful for her and her parents. Because she was diagnosed as having epilepsy, she was on anti-seizure meds. On numerous occasions, she experienced what was thought to be a breakthrough seizure—a seizure that occurs in an epileptic in spite of being on anticonvulsant meds. But in fact, she was having an AHC episode, not a seizure. As a result, she would have to go to the hospital to get blood drawn in order to monitor the efficacy of the meds that she was taking.
"There was a lot of difficulty getting blood out of Kiley," Kelly remembers. As a result, she experienced a great deal of pain and discomfort from all of the poking and prodding with needles.
"She was taking these meds to treat epilepsy, which she in fact doesn't have," said Kelly. "And after these blood tests they keep upping and upping her dosages, which made her more and more drowsy."
During this period, the Andrascos also noticed that there were several issues with Kiley's eyes. They would shake back and forth during her episodes, a condition known as deviated eyes, a typical symptom in AHC sufferers.
"Deviated eyes are a classic symptom of AHC," said Gene. "It was one of the symptoms that helped to convince us that was what she had." Unrelated to this condition, Kiley's left eye would turn in, or cross. When she was two, she had corrective eye surgery for this problem.
Something that the Andrascos learned during this period is that if you don't trust a physician's diagnosis and you want to get to the bottom of what your child is suffering from, be prepared to take on the role of medical super-sleuth. Many physicians that are unfamiliar with what can turn out to be a rare childhood disorder are reluctant to make a diagnosis, or even worse, will misdiagnose what a child is suffering from.
Kiley's neurologist at Children's eventually referred the Andrascos to a neurological specialist at the Cleveland Clinic, who finally confirmed their belief that she suffered from AHC. At this point, they were able to begin a proper treatment for her symptoms.
The various drugs that she was taking to address epilepsy were replaced with medications that treat AHC. Once this occurred, her health began to stabilize. And the constant trips to the hospital to give blood during the first eighteen months of her life thankfully stopped.
"Kiley is a happy child who loves to socialize," said Kelly, "but there will always be a number of issues that we have to be concerned with."
Kiley is taking medication to help modify her behavioral issues, which include temper tantrums. And Kiley continues to have problems with both fine and gross motor skills; the former affects her ability to grip a pencil and write with it, while the latter hampers her ability to navigate stairs.
Due to her neurological disorder, Kiley is about two years behind both academically and socially for her age. She currently attends a special education class at Sarah Adams grade school, where she's been since last year, after previously attending Seth Paine, May Whitney and Spencer Loomis schools.
"They've moved the special ed class to different schools a couple of times. It's partly a question of which school has the room," said Kelly. "There are only so many kids in special ed, so there's just one class."
"Also, because of her problem with going up and down stairs, Seth Paine and May Whitney were difficult for her because their lunch rooms are in the basement," added Gene.
Besides Kiley's behavioral issues, the greatest area of concern for the Andrascos are her AHC episodes, which still occur on almost a weekly basis and, among other things, impair her ability to speak and walk. The episodes continue to render Kiley partially paralyzed, usually affecting just one side of her body.
"Even if she has a bad episode, they're intermittent, so she misses very little school," said Gene.
When asked to discuss her episodes, Kiley had this to say:
“They make me not happy because I can’t hold myself up. My knee bends and my foot is stuck in the air," Kiley explained. "Well, when I’m on the bus or something and have an episode, I can’t smile and don’t want the kids to ask me what’s wrong."
"It bothers me that I can’t draw, and I scribble and I don’t want to scribble like a baby," she continued. "When I go swimming, I have an episode and I love to swim though. I feel bad when I have an episode and I can’t talk, and I want to say something, like at Thanksgiving.”
"She seems to have her episodes during special events," notes Kelly, "like birthday parties and holidays," said Kelly.
While Kiley did have a fairly robust episode this past Thanksgiving, the Christmas holiday passed without incident. And November’s episode was more than offset by something wonderful that occurred.
The Pepsi Refresh Project, an ongoing program sponsored by Pepsi, grants money on a monthly basis to various foundations and organizations that champion different diseases, with $250,000 going to the top two vote-getters each month. Anyone can vote either online or by text message. Jeff Wuchich, president of the AHC Foundation, decided to attempt to get his organization on the ballot. His efforts paid off, and Pepsi slated him in November.
AHC remained in the running all month. "It was in second place most of the time," said Kiley's mother, Kelly. "Then towards the end of the month, AHC slipped into third place. That's when many friends and family—a lot of the community-- really came through for us. They really helped spread the word. That really helped us in the end."
Aided by that local groundswell of support, AHC moved back into second place, where it finished, winning the $250,000. “We were really moved by all of the support from the community,” said Kelly. “It was very emotional.”
While the Pepsi Refresh Project outcome was a terrific victory for the Andrascos, there are assorted other issues that they must continue to weather. One of those is maintaining access to Flunarizine, a generic form of Sibelium, a calcium channel blocker that helps reduce the duration and severity of her paralysis during her episodes, and is the most important medication that Kiley takes.
The Andrascos had been obtaining Flunarizine from Canada, but the Canadian pharmaceutical company that manufactured a generic version of the drug sold their manufacturing rights to another company last year. It is currently unavailable because the company that purchased the rights hasn't started production yet.
The Andrascos have contacted the company on several occasions to inquire when it will become available. "The date keeps getting pushed back," said Kelly.
"When you have pharmaceutical companies researching and manufacturing drugs for rare diseases like AHC, there isn't a lot of incentive from a financial standpoint, because there isn't a lot of money to be made," explained Gene. They have been getting the brand-name version of the drug from India, but inexplicably, it's not as effective.
Another issue for the Andrascos is how AHC will affect Kiley as she gets older and enters puberty. Like other neurological diseases such as multiple sclerosis, new symptoms of AHC can emerge as a person gets older.
"Some kids are in a wheelchair by the time they're Kiley's age," said Kelly. "We're fortunate that she's as mobile as she is. But that could also change as she gets older. We don't know what's in store."
Invariably, the onset of adolescence will mean new challenges for Kiley and her parents, probably from both a physical and behavioral standpoint.
One change that has occurred in Kiley over the last couple of years is the increase of migraines. Interestingly, research has discovered that an inordinately large number of people afflicted with AHC come from families that have a history of chronic migraine sufferers.
Fortunately for Kiley, she has the support of both her immediate and extended family as she approaches adolescence. Kelly said that Kiley also has the love and support of her 11-year-old brother, Ryan. "He's really good with her, really patient."
The Pepsi Refresh Project money that the AHC Foundation landed for research should also help. Like many disorders that aren't well known, it doesn't get the attention and resultant research money that better known diseases receive.
In a poignant moment, when Kiley was asked what she would say to her episodes if she could talk to them, she had this to say:
“Go, go, go away and never, ever come back! I want to grow up and drive and be a mom. And I want to be a teacher.”
For those interested in making a donation towards AHC research, they can do so at www.ahckids.org.