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By
Deborah Huso
At just 13-years-old, Samantha Parkinson is about to undergo
heart valve replacement surgery. Parkinson, who lives in Rushden, England, has had three
heart attacks
in her short life and also suffers from
asthma,eczema,autism
and mental impairment that has her functioning at the level of a three-year-old. The British teenager has an extremely rare disorder known as
Ring Chromosome 18,
which can exhibit a wide range of neurological and physical difficulties that can quickly overwhelm doctors and make them consider the disease untreatable.
As terrible as the symptoms of Ring Chromosome 18 may sound, Jannine Cody, Ph.D., director of the Chromosome 18 Clinical Research Center at the
University of Texas Health Science Center at San Antonio, says the main problem in treating children with the disease is attitude. "Often the medical community fails to provide symptomatic treatment because they’re overwhelmed by the disease," she says.
Ring Chromosome 18 is a
genetic disorder because it is caused by an error in genetic material; however, it is not hereditary. While typical chromosomes exhibit themselves as long rods when viewed under a microscope, ring chromosomes occur when one end of the chromosome fuses with the other. Often the ring chromosome is missing a long or short arm, which means it may also be missing genes that are central to human growth and development.
Patients with Ring Chromosome 18 exhibit a wide array of symptoms with varying degrees of severity. Some of the common symptoms include development issues such as speech problems, slow motor skill development, and lower IQ. Children with Ring Chromosome 18 may also be born with
cleft palate,
eyes that are close together or
clubfoot. They can have vision and hearing problems, and 30 to 40 percent of infants born with the disorder have
heart defects. A smaller percentage of children suffer from small stature due to deficiencies in growth hormone.
Cody says the key to treating Ring Chromosome 18 is to identify and treat its individual symptoms. "It’s an entirely symptomatic disorder," she points out. "The range of symptoms is huge with some children being entirely incapacitated while others are extremely functional." She says it is important for the parents of children with Ring Chromosome 18 to be advocates for their children and find doctors who are willing to examine the individual symptoms and have them treated by specialists.
"If the child has vision problems, get him glasses," says Cody. "If he has hearing trouble, get a hearing aid."
Cody says there are no good assessments at present on how many people have Ring Chromosome 18, but she says it’s very rare. In the case of Samantha Parkinson, her parents have found 21 other families in the United Kingdom who have children with the disorder. For more information, visit
The Chromosome 18 Registry and Research Society.
