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Colorado Adds ‘Bubble Boy Disease’ To List Of Newborn Tests

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Quinten Clark (credit: CBS)

Quinten Clark (credit: CBS)

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DENVER (CBS4) – When a baby is born in Colorado, a tiny blood sample from the heel is screened for 35 serious disorders. This year the state added what’s often called “Bubble Boy Disease” to its list of newborn tests.

The new screening just started on Feb. 1 and one baby has already been diagnosed with the rare disease.

While having a child with the immune deficiency disease is heartbreaking, finding the disorder early can be lifesaving.

As 6-year-old Quinten Clark got hooked up to an IV, he made a fuss, but it was a familiar routine. Quinten needs monthly infusions at National Jewish Health to fight infection. It wasn’t always that way.

“He was born healthy; healthy, happy, normal,” Quinten’s mother Lisa Clark said.

But at three months old, after exhausting the immunities passed on by his mother, Quinten got pneumonia and just kept getting worse.

“There were a couple nights when I was in the hospital when they didn’t think he was going to make it through the night,” Clark said.

The diagnosis was Severe Combined Immunodeficiency Disease, or SCID. It’s a rare inherited disorder often called “Bubble Boy Disease.”

“His little body had destroyed his immune system,” Clark said.

Back then, blood taken from newborns in Colorado tested for dozens of diseases, but not SCID. This year, that changed. In February, Colorado became the seventh state to add SCID to newborn screening. In the first week, a case was detected. Dr. Erwin Gelfand says that infant is doing well.

With early treatment the baby will undergo a bone marrow transplant, a possible cure.

“The earlier the recognition the more likely we are to prevent some of the consequences of late diagnosis,” Gelfand said.

Quinten is small and suffers hearing loss. If he’d been tested at birth it could have made a huge difference.

As Quinten waits for a bone marrow match, Clark is happy the new test means other SCID children won’t get sick and their parents won’t suffer the same heartache.

For now, Quentin stays healthy on his medications. He is able to go school. His parents are anxious to find a bone marrow match.

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