Genetic Testing for Children Could be Beneficial

The story of two fathers in Washington state explains why genetic testing for children could be beneficial in certain circumstances. The Seattle Times wrote an article about two fathers with young daughters who each had Batten Disease. Together, the fathers drafted a bill that would make genetic testing immediately available and covered by insurance companies when children are missing developmental milestones, and presenting unexplained conditions affecting their health.

Batten disease is the common name for a broad range of rare, fatal, inherited disorders of the nervous system. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules.

Most forms of Batten disease usually begin in childhood. Children with the disease often appear healthy and develop normally before they begin to show symptoms. Children with the infantile or late-infantile forms usually show symptoms earlier than age 1 year. Common symptoms include vision loss, seizures, delay and eventually loss of skills acquired, dementia and abnormal movements.

As the disease progresses, children may develop personality and behavior changes, clumsiness, learning difficulties, poor concentration, confusion, anxiety, seizures, progressive loss of language, speech, intellectual abilities, and motor skills.

One father was able to get a genetic test for his daughter for free. The other was not because he asked to pay $25,000 for the genetic test and did not have the money. His daughter died from the disease.

The fathers presented what became House Bill 1346 to state Representative Pat Sullivan (Democrat). The bill has been presented to the Washington House, and has gone to a committee.

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