Courtesy of Gerry Denny David Denny
(above) has a disorder that could have been treated if found
earlier.
By Crystal Betz
Daily Bruin Contributor
David Denny cannot speak, walk or eat on his own.
The 7-year-old from Torrance, who is a patient at the UCLA
Mattel Children’s Hospital, is confined to a wheelchair, and
his only means of communication are through electronic
“yes” and “no” buttons that sit atop his
wheelchair tray. He has liquid food that is pumped into his stomach
13 times a day because he has no motor coordination to eat like
other children.
And currently, UCLA doctors are working to prevent other
children from going through what Denny has been through by taking
part in an expanded pilot newborn blood testing program that was
implemented in January 2002.
Denny has a metabolic disorder called glutaric acidema, a
disease that inhibits the body from breaking down certain amino
acids, which then accumulate in the body and become toxic.
The pilot program tests for Denny’s disorder and up to 30
additional metabolic conditions that can affect newborns. The
legislation passed through the state legislature in 2000 and went
into effect at the start of this year. UCLA’s Dr. Stephen
Cederbaum, chief of pediatric genetics at the Children’s
Hospital, along with many others, lobbied strongly for the
legislation to pass.
Newborn testing became a California state law in 1980, but
hospitals tested for only four conditions ““ galactosemia,
primary congenital hypothyroidism, sickle cell disease and
phenylketonuria.Â
California is one of the few states participating in the
expanded testing program, which is expected to last 12 to 18
months. If it is successful, legislation may change to make the
expanded testing a permanent part of the California Newborn
Screening Program.
Due to the implications of the legislation that deem the program
a “pilot program” rather than a law, each parent has to
sign a consent form to get the testing done, which is a
“considerable barrier in the process,” according to
Cederbaum.
California has about 500,000 live births a year and about one in
6,000 are expected to be diagnosed with one of the 30 additional
metabolic disorders the expanded program is testing for, officials
predict.
Testing for the additional disorders takes the same amount of
blood as testing for the original four, but the blood is processed
through more advanced technology.
“All these disorders are genetically predetermined, but
testing can prevent the damage it creates and the babies have a
much better chance,” said Cederbaum.
“I think it is wonderful that they are doing these
screenings. David’s condition could have all been
avoided with these tests, and I hope it catches on for a lot of
kids,” said Amparo Denny, David’s mother.
Denny’s symptoms started appearing when he was 5 months
old. He had an extremely stiff neck and was constantly vomiting.
Neither his parents nor the doctors could figure out why. For four
months, Denny went to various doctors and neurologists receiving
many misdiagnoses. It wasn’t until coming into contact with
Cederbaum that David’s condition was discovered through a
simple urine test.
The Dennys received confirmation of David’s disorder when
he was 9 months old, but the irreversible damage to his brain and
motor coordination had already occurred.Â
Now Denny’s life is consumed by physical, occupational and
speech therapy, not to mention various medicines to help him sleep,
control his seizures, and relax his muscles so he can be
comfortable.
This disorder could have been treated through medication and a
special diet, and Denny could have developed normally if he had
received the new blood testing.
These tests can make a difference between normal development and
death in an infant, said Amy Waddell, spokeswoman for Mattel
Children’s Hospital.