One afternoon last November, Karen Salter came home from work to find her 16-year-old son, Jeremiah, waiting for her in the kitchen, holding a bag of apples. He thrust the apples into her hands and rushed across the room to grab a pumpkin from the counter. "He'd been on an after-school trip to a farm, where he went on a hay ride," Karen explains. "He was so excited to tell me what he'd done. He loved going on that trip. I knew that was what he was saying."
It's not always that easy to understand Jeremiah ("Miah" to his family and friends). He doesn't talk about what he's done or what he thinks or how he feels. In fact, he doesn't talk at all. In his entire life, he has uttered only a few words. "Between the ages of 5 and 10, he occasionally used maybe eight different words," his mother says. "He'd say things like 'Hi,' 'Yeah' and 'Momma.' I think he kind of tried to talk, but realized he didn't have the words, so he gave up."
Most people who are unable to speak find other ways to communicate, using American sign language, written notes or computers, for example. None of those techniques are applicable in Miah's case. He was born with a genetic defect that severely limits not only speech, but also the ability to use alternate forms of communication. It's intensely frustrating for him and for his parents. "The worst thing is, when something is going on with Miah, we don't know what it is," says Karen. "Even though he's trying to tell us something, we have to guess what it might be.
All we can do is read his expressions."
In most respects the Salters are an entirely typical American family: Mom, Dad, two kids and two golden retrievers living in a comfortable house on a quiet street in Somersworth, N.H. Karen works part time as a medical transcriptionist for a nearby hospital, and her husband, Chris '83, is a surveyor. Miah is their oldest child. He has a 12-year-old sister, Alicia, his greatest advocate, whom he teases unmercifully.
Karen and Chris first suspected a problem when Miah was only eight months old. "Miah wasn't hitting some developmental milestones," Karen says. "He wasn't sitting up, he wasn't trying to crawl and he wasn't making any sounds." The family consulted a pediatrician, then a neurologist. Eventually Miah was diagnosed with cerebral palsy, pervasive developmental disorder and autism-like syndrome. The autism part didn't sound right to the Salters. Children with autism are characteristically withdrawn and disengaged, but Miah was the opposite. He was affectionate and sociable from an early age and seemed to be exceptionally happy. "He was Mr. Smiley from the time he was two months old," his mother observes.
When Miah was two, his parents took him to the UNH Institute on Disability's Seacoast Child Development Clinic for an evaluation by Dr. John Moeschler, a developmental pediatrician. "It looks like Angelman syndrome," Moeschler told them. The Salters had never heard of that condition, but "when we read the medical description, we said, 'That's it; that's Miah,' Karen recalls. The diagnosis was confirmed four years later at Boston Children's Hospital by a new genetic test.
Angelman syndrome was first identified in 1965 by Dr. Harry Angelman, an English physician. He had observed three children in his clinic who shared an unusual combination of symptoms, including severe developmental disabilities, seizures, problems sleeping, short attention spans, hyperactivity and a fascination with water. They had uncertain balance and poor muscle control, and they seemed unusually happy, smiling and laughing frequently, sometimes excessively. And none of them could talk.
Although the various symptoms Angelman noted could be attributed to a variety of conditions, he theorized that all of them had a single cause. That suspicion was confirmed in the mid-1980s, when genetic researchers discovered that Angelman syndrome is linked to a particular gene labeled UBE3A. Most people who have the condition, including Miah Salter, are missing a snippet of genetic material that includes this critical gene. Other cases have been linked to other abnormalities in the chromosome where UBE3A is found.
Angelman syndrome affects males, females and all racial or ethnic groups equally. Researchers estimate that 1,000 to 5,000 individuals in the U.S. and Canada have the disorder, although most have been improperly diagnosed with other developmental problems. Now that Angelman syndrome can be positively identified through a laboratory test, researchers are beginning to suspect that it is more common than they used to think. A few years ago, experts believed that it might affect one baby in 20,000; now they say one in 10,000 is probably more accurate.
When Miah was four years old and attending a preschool program in Somersworth, the school district enlisted Stephen Calculator, a professor of communication sciences and disorders at UNH, to help design an educational program for him. Calculator, who specializes in augmentative and alternative communication, has been involved in Miah's education ever since.
"Steve comes to the school at least once a year for consultation," Karen says. "He helps to train the school staff, showing them exactly how to support Miah and what to expect. He'll write up a whole procedure manual, explaining the goals, objectives and what we and the teachers need to do. Sometimes he's even come into the classroom to talk to the kids about Angelman syndrome. He's helped us to break down a lot of barriers."
His work with Miah and several other children with Angelman syndrome established Calculator as an expert, and he was swamped with requests for help from schools around the country. Over the past eight years, he has assisted in developing curricula for more than 50 children diagnosed with the condition.
Calculator has tried a number of communication techniques with these children with varying degrees of success. Many standard forms of augmentative and alternative communication just don't work for them, he says. American sign language is difficult for them to learn, and they don't have the fine motor skills required to make signs that are clear to others. Communication aids like picture boards, letter boards and devices that use recorded messages are cumbersome. Children like Miah require a simpler way to make themselves understood, a method that they will use consistently without prompting. Calculator has developed one for them: enhanced natural gestures.
"With enhanced natural gestures, you begin with gestures that the child already uses," Calculator explains. "For example, a child might be observed lifting a cup to her mouth with two hands. Her use of the same gesture in the absence of physical contact with the cup would constitute an enhanced natural gesture. Similarly, a child might be observed in music class beating a stick on a drum. Use of that same hand movement when the drum is in sight but out of proximity could be the child's enhanced natural gesture for requesting another turn with the drum."
Enhanced natural gestures are different for every child, but they have several essential characteristics in common: they are always used intentionally; they are based on gestures that the child can already make; they are consistent and can be readily understood by others; and they do not rely on actual physical contact with an object or a person.
Miah is currently using about eight enhanced natural gestures regularly at school and a few more at home. To indicate that he wants to play ball, he holds his hands in front of him and moves them up and down together, as if bouncing a ball. Bringing his fingers to his mouth signals, "I'm hungry." He can even use gestures to give directions to his dog, a golden retriever named Ward. When Miah brings his palm up to touch his chest, Ward recognizes the sign for "come" and happily complies.
Learning to communicate with gestures has helped Miah to become more expressive generally. He never used to be able to ask for things without actually touching them. If he wanted to take a bath--like most children with Angelman syndrome, he loves water--he would turn on the tap in the tub. If he wanted cereal, he would go to the cupboard and get it. But using enhanced natural gestures has helped him to realize that he can ask other people for things that he can't get on his own. "It opened him up to realizing that communication gives him some power," his mother says. "Communication can make things happen."
Calculator's work with enhanced natural gestures has demonstrated that it is possible, with a lot of time and persistence, to give a child with Angelman syndrome the ability to communicate in a limited way. Persuading the child to use that ability is another battle.
"One of the issues with individuals with Angelman syndrome is their motivation," says Lisa Payeur '92G, special education coordinator at Somersworth High School, who has worked with Miah for the past three years. "Sometimes Miah will get his sports bottle out to get a drink of water, and he won't be able to open the flip top. We wait for him to ask for help, but instead he'll just put the bottle down, like he's saying, 'Forget it. I don't want a drink after all.'"
Miah generally isn't motivated to respond to other people if he's not interested in what they're saying, even if he understands them perfectly well. "He pays attention to what he wants to," his mother says. "I can say, 'Hey, Miah, let's go work out on the treadmill,' and he'll just blow me off. But if I say, 'Let's go to Burger King,' he'll be standing at the door with his coat."
The key to getting Miah to communicate is to put him in situations that are interesting and fun and let him interact with other people. The high school has attempted to do that by assigning him to activity-oriented classes, such as band, physical education and a marketing class that runs the school store, where Miah stocks the soft drink coolers. He also spends part of each school day in the special education resource room, where he gets individual instruction in communication and life skills.
Twice a week Miah leaves phys-ed class early to go to The Works, a health club in Somersworth. There he meets therapeutic recreation specialist Matt Frye '02, who works for Northeast Passage, a service program of the UNH Department of Recreation Management and Policy. Frye is a kind of personal trainer for Miah, helping him with exercises that will increase his stamina, balance and flexibility. "We're trying to develop some skills that will enable him to participate more fully in phys-ed class," Frye explains. "The exercise is important, but it's almost secondary to the opportunity to get Miah out in the community so people can get to know him. He's a very social young man; he wants to make friends and interact with people around him."
Miah's parents also try to get him out in the community as much as possible. He belongs to several teen social groups and goes to summer camp, swimming classes, weekly church services, and concerts and athletic events at UNH. He rides a tandem bicycle around Somersworth with Chris, and Alicia involves him in activities with her friends. It takes time and energy, but Miah's family is determined to keep him connected with the community around him. "You see so many adults with developmental disabilities out in the community, and you realize that the only people in their lives as they get older are people who are paid to be there. That's scary; that's a killer," Karen says.
When Miah was still in grade school, Karen and Chris outlined a set of goals they want him to achieve by the time he is 21, when he will no longer be eligible for assistance through the school system. They want him to have a circle of friends he can rely on, a home where he feels secure, a job that he enjoys doing, a role in planning his own future. Twenty-one is only five years away now, and some of those goals still seem far off, but Miah keeps making progress, and his family won't let anyone give up on him.
"We don't really know what it's possible for him to do, but we're not going to underestimate him," his mother says. "I decided when he was little that I'm not going to assume he can't do things; I'm going to assume he can." ~
Jake Chapline is a freelance writer and editor and a frequent contributor to UNH Magazine.