Obsession and love of music are two traits of Williams syndrome, writes Olivia Kelleher
Pat Kenny has his fair share of detractors, but his biggest fan, Karen Breen, won't hear a word against him. The 20-year-old from Ballinsaloe, Co Galway started collecting scrapbooks containing pictures of the RTÉ chat show host five years ago. She has been in the audience of The Late Late Show and even went for a post-show drink in the bar with her hero on one occasion.
Her mother, Ann, says that Karen is "practically obsessed" with Kenny and has missed weddings and other big occasions to watch The Late Late Show. "Nothing interferes with her Friday night. She calls herself his No 1 fan. She looks forward to a trip to the show for weeks. She really can't contain her excitement. He has been good to her bringing her for a drink and so on."
Karen's devotion to Kenny is consistent with Williams syndrome, a rare genetic disorder that was first recognised as a condition in 1961. People with the syndrome share an array of traits that include heart problems, a pixie-like facial appearance, mental ability from low average to mildly retarded, a gregarious demeanour and a passion for music.They also have very endearing personalities, are unafraid of strangers and show a greater interest in contact with adults than their peers. Most people with the condition have some degree of intellectual handicap.
One of the less serious symptoms of the condition is that individuals have obsessional tendencies. For example, Karen is hugely interested in trucks and motorbikes and has a mania for sounds of various kinds. She pays attention to certain sounds on the washing machine cycle, and Ann has had to buy three copies of the Star Wars video, The Phantom Menace, because her daughter wore out the tapes by rewinding a sequence where a spaceship made a particular whirring noise.Karen has an ear for languages and watches TG4 regularly even though she doesn't speak Irish. She also tunes in to foreign language films because she enjoys listening to different accents.
She was diagnosed as having Williams syndrome at the age of two-and-a-half. Prior to that her parents had spent months "fire-fighting" as their young daughter's health lurched from crisis to crisis. Ann says Karen "roared" morning and night and failed to meet developmental milestones such as walking and moving to solid foods. At age one, Karen developed a rectal prolapse and had to undergo treatment. She contracted chicken pox and confluent measles and was regularly vomiting. Ann and her husband Paschal felt helpless as they struggled on not knowing what was wrong with their daughter. When Karen was finally diagnosed in January 1986, Ann says she couldn't absorb what the doctors were saying about her daughter. She admits she had always hoped that whatever was wrong could be fixed.
"The diagnosis was a slap in the face. On the one hand there was a relief in finally knowing what was wrong. But there was also a sense of emptiness. I was given a page from a textbook with pictures of Williams syndrome children. It contained four horrible photographs in black and white. The doctor was nice but she just didn't know anything about the condition. It was a nightmare."
Ann was informed her precious daughter had a heart murmur, was mentally retarded and that her IQ would be in the region of 56. She was then advised to contact her local mentally handicapped services for support. The Breens spent the next few months trying to come to terms with the news. They didn't know of any couples in a similar situation and felt isolated and confused.
Ann eventually made contact with another Williams syndrome family through the Gay Byrne Hour on radio. The two sets of parents travelled to the US to meet a professor in Kentucky who had carried out research on the syndrome. He explained the condition to the families and urged them to set up a Williams syndrome support group in Ireland. Ann established the Williams Syndrome Association of Ireland (WSAI) in 1987 to ensure that other mothers wouldn't have to endure the pain and suffering she went through in the months following Karen's diagnosis.
The Williams Syndrome Association of Ireland currently has close to 35 member families. People with the condition have an affinity for music and many Williams individuals have perfect or relative pitch. Almost all have a love of music that approaches the spiritual. A special camp takes places every summer in Galway; for many, it is the only time they are around other children and adults with the condition. The association is hoping to attract corporate sponsorship as the camp costs around €20,000 a year to run.
Williams: The Facts
Williams syndrome is a rare disorder which is estimated to occur in around one in 20,000 births. Like Down's syndrome it is caused by an abnormality in chromosomes. People with Williams syndrome are missing genetic material on chromosome #7, including the gene that makes the protein called elastin. Williams is a non-hereditary syndrome which occurs at random and can affect brain development in varying degrees, combined with physical problems ranging from lack of co-ordination, slight muscle weakness, possible heart defects, blood vessel problems and occasional kidney damage. Hypercalcaemia - a high calcium level - is often discovered in infancy, and normal development is generally delayed.Most children with Williams have unique facial features which tend only to be recognised by a trained geneticist, including a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.
For further information on the Williams Syndrome Association of Ireland, contact Ann Breen at 0905-43247, or at 13 Kilgarve Park, Ballinasloe, Co Galway or e-mail wsai@eircom.net