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Williams Syndrome - A rare genetic disorder

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KUALA LUMPUR, -- A cheerful child who is quick to break into a smile, is a delight to be with. However, when a child seems unusually sociable and unafraid of strangers, it should be a cause for concern for the parents.

The smiling face could belong to a child with Williams Syndrome, which can cause, among other problems, heart complications, intestinal strictures and high-levels of blood calcium that can be fatal if not detected early.

Williams Syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood-vessel (cardiovascular) problems.

RARE GENETIC DISORDER

Williams Syndrome is a rare genetic disorder. When compared to Down syndrome, which occurs at the rate of one incidence in 670 births, Williams Syndrome is rare. In the United States, its incidence is one in 20,000 births.

Since the disorder is rare, it is difficult to detect it early, given the lack of specialists who tend to be present only in major towns.

According to head professor, Dr Thong Meow Keong, of University Malaya Medical Center's (UMMC) Pediatrics Department, not just the public, but also physicians, with the exception of heart and genetic specialists, are often unaware of this disorder.

"It is difficult to detect Williams Syndrome, as it is a combination of several symptoms. No single symptom can confirm that the child has the syndrome. The common symptoms are heart complications, narrowing of valves, intestinal problems, high levels of calcium, and distinctive facial features," he said.

The syndrome takes the name of J. Williams, a doctor who first identified symptoms in child patients he treated in 1965. Dr Williams listed symptoms of patients with this genetic disorder, in his journal.

He wrote of cardiac problems, narrowed valves, intestinal complications and unique facial features.

Physicians and heart specialists who later identified these symptoms in their patients, named the disorder Williams Syndrome.

Dr Thong said the syndrome is not inherited from parents, but develops when a part of chromosome 7, which processes the protein elastin, goes missing. This results in 70 to 80 per cent of the sufferers having cardiac problems.

"Each of us has 46, or 23 pairs of chromosomes that store 30,000 genes. When there are defects in these chromosomes, it leads to complications in the body," explained Dr Thong.

"It is difficult to detect Williams Syndrome in its early stages, as there are no specific symptoms we can look for, unlike in the case of Down syndrome," he said.

HOPE

Out of every 500,000 births across the world, about 20,000 are of children with such disorders. In Malaysia alone, between 3.0 and 5.0 per cent of all births, produce babies with disorders, some of which are rare.

According to Dr Thong, if Williams Syndrome is not diagnosed early, its heart complications can be fatal.

"If the physician has complete information early, Williams Syndrome can be diagnosed through several tests, especially for the heart. The patient can then be referred to cardiologists for follow-up action," he said.

Children with this syndrome have a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems, such as small, widely-spaced teeth, that could be crooked or missing.

However, these features are not prominent, making it difficult to identify a child with Williams Syndrome among other, normal children.

"The mental development of infants and children with this syndrome is retarded, compared to normal children. This has an effect on their development and learning. Therefore, if parents find some peculiarity in their new-born child, they should consult a doctor. The child can then be placed in a special school to enable them to be independent and on par with other normal children," he said.

Although they have multiple shortcomings, children with this syndrome have unique strengths as well. They are friendly, jovial and have a happy expression of their faces. Studies have shown that these children have an ear for music as well.

"Even though they are friendly, their speech is difficult to comprehend. However, their audio memory is very good, and that explains why they like music. Many of them are good musicians," he said.

SHARING EXPERIENCES

Thirty-five year old Masliza Maaris never expected that her 11-month-old son, Adlan Iman, would have Williams Syndrome. Her third son was born through a normal delivery, as were her two elder sons Amirul Hakimi, 7, and Arman Adham, 5 years.

However, after a cardiologist examined Iman, he diagnosed the then four-month-old with Williams Syndrome. The news left Masliza shocked and speechless.

"It was difficult for me to picture it then. I had never heard of Williams Syndrome, and my mind was filled with all sorts of thoughts about Iman's future," she recalls.

"But I am thankful that the disorder was identified when he was still an infant. It made it easier for me to make plans for him," she said.

Remembering the early days, Masliza said she did not suspect something was amiss even when her son refused milk.

"He would cry loudly at night and also vomit milk given to him, as if his body could not absorb milk," she said.

MEDICAL CHECKS

Several medical examinations were carried out, and doctors discovered that the boy's intestines were excessively narrow, making it difficult for him to digest milk. As a result, his weight went down to 1.7 kg, from 2.3 kg at birth.

"The narrow intestinal tract worsened the Iman's jaundice. As a result, he had to undergo blood transfusion and a surgery to correct his intestines when he was three weeks old," says Masliza.

"After he was discharged from the ward, he underwent a full medical examination, and doctors discovered that the blood vessels in his heart were narrow, as well. He was referred to a cardiologist for a clearer picture," she said.

After examining the boy, the cardiologist said he might have Williams Syndrome.

"The doctor pointed out his facial features - broad forehead, short nose with a broad tip, full cheeks, and a wide mouth with full lips - similar to those of other children with Williams Syndrome," she said.

To confirm the findings, Masliza and her husband, Mohd Faiz Abdul Razak, took Iman for a FISH (Fluorescense In Situ Hybridization) examination at a private hospital. The chromosome check confirmed that Iman had Williams Syndrome.

THERAPY

Apart from intestinal and heart complications, Iman also has high levels of blood calcium, and is required to avoid milk with high calcium content.

Compared to others his age, Iman's development is slow. While babies his age can crawl and begin attempting to stand up by themselves, Iman is only learning how to crawl.

Masliza said Iman is currently undergoing therapy sessions twice a week at UMMC, in order to assist normal growth. He also undergoes periodic checks of his heart, kidneys, urine and blood, to control the disorder's symptoms.

A dietician ensures Iman consumes foods that prevent stiffness of joints from accumulation of calcium in his body.

"Looking at Iman today makes me feel proud, as he is strong enough to overcome challenges, and is now growing up. He is friendly with everyone, and laughs easily when approached," says Masliza.

"I hope, someday, Iman will be independent and able to lead a life similar to normal people, even if he has a disorder," she said.

Masliza hopes to establish a support group for parents of children with Williams Syndrome, so they can share their experiences.

She shares her experience with Williams Syndrome on her blog at http://twoplusoneandmore.blogspot.com/. (PNA/Bernama) DCT/mec

By Kurniawati Kamarudin




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