On a recent summer afternoon, the four Dunigan children laugh and splash in the pool, excited to cool off from Northern California's summer heat. Especially thrilled is 6-year-old Jaxson, the third child, who is non-verbal, using a few signs, head nods and occasionally PECS to communicate.
When Jaxson was 4 months old, his mom, Maiddy Dunigan, noticed he was small for his age and tended to overreach. When her son wasn't babbling or sitting up on his own at 6 months, she expressed her concerns to the doctor. "Wait and see," he said.
But Jaxson continued to miss other typical milestones as the months passed, so doctors began to run tests. At 10 months old, Jaxson was diagnosed via genetic testing with Angelman Syndrome, a rare neuro-genetic disorder that affects only one in 15,000-20,000.
The diagnosis came as a shock. The Dunigans had never heard of Angelman Syndrome—they thought their son was just small for his age—plus, he was sleeping and eating well, and he didn't have seizures (a common red flag for AS). Doctors warned of limitations; Jaxson might not be able to walk, talk, or sit up on his own, and he'd require constant care throughout his life. "Right away, the geneticist warned me, 'Whatever you do, don't go online because it's all the bad stuff,'" remembers Maiddy. "Of course I went online and of course it was."
Because of the mélange of symptoms—including developmental delays, speech impairment, movement disorders, hyperactivity, seizures, sleeplessness, a gregarious disposition and fascination with water—AS, once referred to as "happy puppet syndrome" due to its effects on coordination, was often misdiagnosed as cerebral palsy or autism prior to genetic testing.
"What I read online was devastating, but it's not a picture of who our kids are now. I realized that you can't believe everything you read—I never believed that [those stories] would be Jaxson," says Maiddy.
Actor Colin Farrell spoke on "The Ellen DeGeneres Show" in May and on David Letterman's "Late Show" in August about his son James, who has Angelman Syndrome. James' fascination with water and happy demeanor clued doctors in. Visit the Foundation for Angelman Syndrome Therapeutics' website to learn more about AS: CureAngelman.org.
DAY BY DAY
Since diagnosis, Jaxson has been in a variety of therapies. The Dunigans, who live in Cool, travel to Roseville for neurological services, El Dorado Hills for OT/PT, Auburn for gymnastics and Lincoln for horseback riding.
Before therapy, Jaxson was unable to sit independently. He not only learned to sit on his own, he took his first steps at 2 ½ and began safely walking a year later—very early by AS standards. Recently he learned how to independently navigate the small steps into the family's inset living room. Today, he is what his mother describes as "very physically busy."
"I really believe that if you set the bar low, that's as high as your child will go—it's true for both special needs and typical children," says Maiddy. "I don't know what Jaxson can or can't accomplish, but we won't know unless we try, so we take it day by day."
According to the Foundation for Angelman Syndrome Therapeutics' (FAST) website, CureAngelman.org, individuals with AS acquire skills less rapidly than their peers, but their ability to learn is greatly enhanced by intensive educational programs, repetition and environmental enrichment as they continue to progress throughout their lifespan.
Last school year Jaxson attended full-day kindergarten where he was fully integrated with his peers. With the help of an aide, Jaxson worked on the typical curriculum (about half of which was modified) in addition to skills like carrying a lunch tray and communicating with his classmates.
"I want him to go to school to get something out of it," Maiddy explains, "for the social aspect, to learn and to be part of the community—he has a right to be in this community."
Cecelia Thames, Jaxson's aide for the past three years, says she has seen a big change. When she began working with Jaxson, Cecelia says he couldn't perform simple tasks like holding a spoon; this fall he's continuing with his peers in the first grade.
On his way to lunch, Jaxson has twice wandered into his siblings' classrooms (with his aide) to give them a big hug as he flashes his light-up-a-room smile. But, that constant smile and the happy disposition so many people with AS exhibit can be a detriment.
"The smile masks the severity of the symptoms," Maiddy explains. "Angelman doesn't cause a shorter lifespan; doctor's don't say that your child may not live, but you see so few adults [with AS] due to accidental deaths because of their cognitive disabilities. They drown because they could never learn to swim, a toothache turns into a full-body infection because they couldn't communicate that they were hurting—I've heard so many awful stories."
"The challenges individuals with Angelman face are impossible to wrap your mind around," says Debbie Guagliardo, CFO and co-vice chairperson at FAST. "But they are fighters!"
“I really believe that if you set the bar low, that’s as high as your child will go—it’s true for
both special needs and typical children.” - Jaxson's mom (AKA Maiddy Dunigan)
IS THERE A CURE?
Maiddy fights for her children every day. Last year she left her career as an attorney behind; Jaxson needs constant supervision and, she says, she wants to be there for all of her children. She also never wants Jaxson's siblings to feel like they're caretakers.
In 2008 Maiddy helped co-found FAST, where she currently serves as co-vice-chairperson. Her hope is to raise awareness, so other parents don't feel alone or uninformed when dealing with the diagnosis or challenges of AS, and to raise funding toward a cure. "Without a cure Jaxson will need 24/7 care for the rest of his life," says Maiddy.
FAST has made great strides; the foundation is volunteer run, so all donations go directly toward research. Currently, Dr. Edwin Weeber, who sits on FAST's scientific advisory board, is working toward a therapeutic cure for AS—and he may have found it.
In 2007, Dr. Weeber successfully cured mice that were genetically altered to mimic AS symptoms. AS is most commonly caused by a deletion on the 15th chromosome. This causes a deficiency in brain function which leads to the developmental delays, speech impairment and troubles with balance and coordination that kids like Jaxson experience. Dr. Weeber believes he'll one day discover a treatment for AS that will enable patients to manage their symptoms, similar to the way individuals with depression or schizophrenia can take medication to control their symptoms. What's more, a cure for AS may be a gateway to curing similar disorders, including Rett, Fragile X and some forms of autism.
The next step is tailoring the treatment for humans, but funding is still needed—something that FAST is working hard at. Remarkably, the funding needed is a relatively small number (compared to more than $500,000 Autism Speaks grants to autism research per year or the $631 million that the National Cancer Institute spent on breast cancer research last year alone). Dr. Weeber conducted the mouse cure study with a mere $100,000 grant. Given the proper funding, many are confident that Dr. Weeber will find a therapeutic cure within 10 years.
"I am in the process of looking at drugs that have been already approved by the FDA so we don't have to go through years of waiting for it to get approved," Dr. Weeber says. "Talking to parents and kids with AS is a driving factor for me to find a cure to help families improve their quality of life."
The Dunigans remain hopeful that a cure is imminent in Jaxson's lifetime. "It is my hope as a father of a child with AS that charitable funding efforts, like those now being undertaken by FAST, will see to it that a cure is found," says Chad.
"My involvement with FAST continues to be the most rewarding work I have ever done," says Paula Evans, who works with Maiddy as a co-founder and chairperson at FAST. Her 6-year-old daughter is also diagnosed with AS. "There is so much hope now for our children's futures and it's incredible to be a part of this miracle."
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