Ian’s Story a Battle for a Cure

Four-year-old Ian Palmerino loves to climb—into boxes or over couches. His mom calls him Spiderman because when wants to get into something badly enough, he can move with the agility of a superhero on a mission. But as we all know, every superhero has an enemy. Ian battles not a person, but an illness known as AHC.AHC, or Alternating Hemiplegia of Childhood, is a rare neurological disorder that causes recurrent episodes of paralysis, affecting alternating sides of the body. These episodes can last for minutes, hours, or even days, sometimes resulting in brain damage that leads to varying degrees of loss in cognitive and physical abilities. It took months, for instance, for Ian to recover the fine motor skills that he lost during an eight-day episode in 2006. Ian’s first known episode of paralysis was seen at the age of 20 months. At first, his parents and pediatrician thought he had a case of the flu because he was so lethargic. But Greg Palmerino wasn’t fully satisfied with the diagnosis. “Why, if it’s the flu, isn’t he using part of his body?” he asked. Ian’s mother, Paula Couture-Palmerino, wanted to believe it was just a case of the flu, but she had to agree with her husband that the diagnosis didn’t make sense. Consequentially, their pediatrician sent Ian for neurological testing. Ian was initially diagnosed with a virus that causes inflammation and subsequent brain damage. The doctor told Ian’s parents to keep an eye on him.  Then, two weeks before his younger brother was born, the normally nimble Ian was playing with boxes, fell back, and hit his head. Afterward, Ian couldn’t stand. In the ER, doctors diagnosed him with a concussion, but Ian’s parents recognized the paralysis from before. A pediatric neurologist finally diagnosed Ian with AHC. Ian’s parents were more than a little surprised. Born premature, Ian had been tested and inspected from head to toe. However, the relatively new disorder, only recognized since the ‘70s, was easy to miss. With less than 100 cases estimated in the United States alone, the disease is quite rare. Couture-Palmerino recalls one physician seeing Ian at the ER this past fall who had to Google AHC before treating him. Also, there is no single diagnostic tool for identifying AHC. “AHC is an extremely unusual disease in that lab tests, imaging of the brain, and the like appear normal,” says Ian’s pediatric neurologist, Dr. Francis Dimario of Hartford, Conn. Other similar illnesses such as stroke, encephalitis, migraines, and seizures—which many of those with the disease will develop—must be ruled out first. Children may go years before they are finally diagnosed with AHC. Also complicating matters is that the manifestation of the disease varies with the individual. “The illness could easily be used in an episode of the television show House. It is incredibly bizarre,” says Couture-Palmerino, describing the unusual symptoms that might accompany an episode. Associated symptoms include erratic eye movements, developmental delay, lack of muscle tone, and painful stiffening of the extremities. A burst of excitement receiving company triggered one girl’s episode and she became stuck in a split. Seven children died within one year either from getting stuck in a suffocating pose or from a grand mal seizure. Episodes may be triggered by a variety of factors; for Ian, they are illness, too much excitement, and—well, bumps in the head. People with AHC may be sensitive to the bright lights of a grocery store, temperature changes, scents, and exposure to water. Many, as a result, must wear sunglasses while outside and avoid swimming. Ian’s parents are exceptionally vigilant about his environment, doing their best to ward off episodes. They keep Ian inside if it’s too bright or warm outside. Ian gets picked up early from pre-K to avoid the chaotic pick-up time at the end of school, which may also trigger an episode. Plenty of sleep, like everything else, must be structured into the schedule. Despite the limitations, The Palmerinos have been successful at raising a bright, well-adjusted child. With his infectious grin, Ian is a lively and friendly four-year-old boy. He loves letters (his favorite is “L”), sorting objects—including his mother’s laundry, collecting pinecones, and playing with his younger brother Mavin. Mavin, now 2, innocently recites, “He bump his head,” when Ian’s parents recall the time in September where Ian and Mavin smacked heads, which triggered an episode. Yet presently, Ian seems unaware of the illness he lives with. “Unless something is going on with him physically—if his head hurt or he had pain in his hand or his eyes—he would not be able to talk about his illness,” Ian’s father, Greg, explains. Ian’s lack of memory of episodes is thought to be due to a sensory overload of his brain. For that, his parents are grateful, as his episodes can be very scary and terrible experiences. Ian is usually comatose, vomiting, feverish, and eyes twitching for as long as eight days. The day after his October fall, Ian said something about an episode, and his parents had mixed emotions. “He understands. Maybe he can help us when he starts feeling funny,” Couture-Palmerino recounts.  Yet they also feared this marked a loss of part of his innocence. Fortunately, it turns out that Ian was just remembering an episode of Little Bear. “I was so happy,” Couture Palmerino recalls with a laugh. She and her husband hope that if they can keep handle on Ian’s illness, Ian won’t ever have a recollection of his episodes. Ian’s parents believe their proactive approach is a major reason why Ian did not have a major episode for close to a year, a remarkably long time for someone with AHC. Some have weekly, even daily, episodes. Cutting out long drives and vacations may seem like a huge sacrifice, but Couture-Palmerino explains, “The bottom line is it’s brain damage and it’s not worth it.” What also gives them hope is the thought that their current rigid schedule is temporary. As Ian gets older and can start better communicating how he’s feeling, he and the family can have the freedom to do more things. They are especially looking forward to spending more time with their families and friends. Both of Ian’s parents were born and raised in Southbridge, so they find it hard at times living away from the majority of their family in Lebanon, Conn. Ian’s illness usually prevents them from making the tiring 50-minute drive to Southbridge. But they are hoping, with the proper planning for rest, Ian will be able to make it to draw the winning ticket for a raffle held in his honor on Nov. 17. A Quilt Raffle Fundraiser for AHC is set to take place at the Fabric Stash in Charlton, Mass. Ian’s aunt, Pat LaRiviere of Southbridge made the star quilt to be raffled, and Ian’s maternal and paternal relatives sold tickets for the raffle in the tri-community area. Over $1000 has been raised by the event to support research to find the cause and cure for AHC. Unfortunately, much is still not known about this disease. While the name AHC suggests that only children have this illness, there have been cases adults having episodes as well. Also, it is hard to know how often AHC is misdiagnosed, but the consequences can be dangerous. The brain damage effects of AHC attacks are thought to be cumulative. The sooner AHC is diagnosed, the sooner it can be treated with medication, which may reduce the severity of episodes. A 13-year-old girl had been functioning extremely well when two severe episodes dramatically decreased her physical and cognitive skills. She is now reading at the level of a third grader. A June 2005 episode set Ian back almost a year developmentally. The Palmerinos give much of the credit for his phenomenal recovery to occupational and physical therapy. Ian appears to have a relatively mild case of AHC, which the Palmerinos hope will continue as he ages. “On the one hand, we feel confident because we’re monitoring closely,” Couture-Palmino says. “But we know he’ll never be able to drive. Out here we have wild turkeys and I love it, but what’s going to happen when he grows up?” While there are only seven known cases of AHC in Mass., it is possible that there are more out there. “While it’s by no means a common disease, it is probably more common that we recognize,” says Dr. DiMario. The Palmerinos hope that by telling Ian’s story, they can help to increase awareness about AHC and do their part to help fuel the discovery of the cause and eventual cure for this disease. “These are lovely and brave children who need a lot of support… dealing with a chronic and, at times, debilitating disease,” says pediatric neurologist and epileptologist Dr. Mohamad Mikati formerly of Children’s Hospital of Harvard University in Boston.  “[C]an you imagine how scary it could be to have half of ones body paralyzed or even all the body paralyzed for hours days or even weeks at a time and being a child not understanding why? [B]ut even with the current available resources we can make a big difference in their lives.” By Renée Canada A version of this story was published in Sturbridge Times, December 2007