Breast Cancer Awareness
|
|
|
MailTribune.com
  • BEN ALLEN

    BETTING ON BIG BEN

    5-year-old battling a genetic condition that affects speech
  • The little boy studiously watches his teacher's mouth as he struggles to follow her example. His tiny teeth clench briefly on his bottom lip as he blows air through his mouth, and answers her question.
    • email print
    • The 22q11.2 deletion Syndrome
      A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22, which is present from the ti...
      » Read more
      X
      The 22q11.2 deletion Syndrome
      A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22, which is present from the time a child is conceived.

      Present in 1 of every 2,000 to 4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 percent to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems.

      Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

      • heart defects
      • palate differences
      • feeding and gastrointestinal difficulties
      • immune system deficits
      • growth delay
      • kidney problems
      • hearing loss
      • low calcium and other endocrine issues
      • cognitive, developmental and speech delays
      • behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)




      (Source: website c22q.org)
  • The little boy studiously watches his teacher's mouth as he struggles to follow her example. His tiny teeth clench briefly on his bottom lip as he blows air through his mouth, and answers her question.
    "I am fine," Benjamin Allen says, with a shy smile.
    Keri Vilks, a speech-language pathologist at Providence Medford Medical Center, beams as she applauds her star pupil's successful effort to articulate the difficult "F" sound.
    "Good job, Ben! You are fuh-ine!" Vilks reiterates, exaggerating her mouth movements for Ben's benefit.
    Rev. Ron Allen, Ben's father, looks on as Vilks continues demonstrating "F" sounds. "Fah!" "Foh!" she says, smiling across the tiny table.
    Proper articulation of his speech has been just one of the struggles endured by the Shady Cove 5-year-old. Ben was born with a genetic disorder called 22q11.2 deletion syndrome — which is widespread but relatively unknown, says his father.
    The syndrome has the potential to affect almost every system in the body and can cause a wide range of health issues, including palate abnormalities, hearing loss, speech delays, heart defects and kidney problems.
    Ben recently underwent corrective surgery at Doernbecher Children's Hospital in which surgeons elongated his palate.
    One of eight children in the Allen household, Ben had seen many doctors and specialists at various locations in his short life, but none had correctly diagnosed his condition. He has been diagnosed with hearing loss and a host of other health concerns. Some were life-threatening. All can now be definitively linked to the deletion syndrome, Ron Allen says.
    Ben has had trouble speaking intelligibly since he was a baby. Trips to specialists in New York and Texas yielded little results, says his mother, Jeanette.
    "They kept telling us he was lazy," she says, shaking her head.
    After the family moved to the Rogue Valley, local pediatricians and specialists referred Ben to Providence Rehabilitation Services for severe speech problems, she said.
    Ben's nasal speech was difficult to understand, and difficult for him to produce, Vilks says. He often had to plug his nose to stop escaping air and make his words more understandable to those around him, she says.
    "He was severely hyper-nasal. His speech raised my suspicions about a palate abnormality, and told me something needed to be investigated," Vilks says.
    The Allens credit Vilk's tenacity and compassion for ultimately providing an explanation for their child's problems, as well as for finding them meaningful help, he says.
    "Keri caught it right away," says Jeanette Allen.
    Vilks had no firsthand experience with the 22q11.2 syndrome. But she had learned about it in her training. Signs can include delayed speech development, a gap in the roof of the mouth (cleft palate) or other palate problems. Sensing something was wrong with Ben's palate that could be part of a larger issue, Vilks noticed other small indicators that caused her to refer Ben for genetic screening.
    Vilk's suspicion was confirmed at Oregon Health & Science University. Testing showed Ben's chromosome 22 was missing a segment that includes an estimated 30 to 40 genes. According information on the c22q.org website, the chromosomal malady occurs in approximately 1 in every 2,000 to 4,000 live births in the United States.
    Despite its prevalence, many physicians are still not familiar with the deletion syndrome, or its extreme variability, says Ron Allen.
    "We really want to get the word out about this syndrome so that other parents, and doctors, can know what to look for," he says.
    The syndrome was also responsible for Ben's earlier hearing issues, and his ongoing breathing difficulties, his father says.
    "He has a narrow opening to his lungs. They kept saying he had asthma," he says, adding he has twice had to resuscitate Ben for breathing issues.
    Watching Ben blow soap bubbles, Vilks says he is making great progress now that he has had his corrective surgery. The bubble-blowing exercise is designed to help him learn how to direct air out his mouth, and not through his nose, she says.
    "On a cognitive level, there was no problem," Vilks says. "It was a palate abnormality caused by the syndrome."
    Ben has mastered his "B" and "P" sounds, Vilks says. "S" and "Shh" sounds are still a struggle because they require more airflow through the mouth, Vilks says, speaking of the coordinated physiological and cognitive effort that most people take for granted.
    "He seems happier," Vilks says. "He seems more confident when he speaks."
    Ben still tends to want to replace the "F" sound with a "B" sound. But the "B" consonant comes in handy when talking to Santa.
    "What's your favorite game, Ben?" Vilks asks.
    "Batman Wii," Ben says, with a smile.
    To learn more about the deletion syndrome, visit www.c22q.org
    Reach reporter Sanne Specht at 541-776-4497 or email sspecht@mailtribune.com.
Reader Reaction

      calendar