New Colorado test on newborns identifies, could save “bubble boy”
posted by: Guest Blogger
Patient zero needs his binky. Jagger Kiersch, crying intensely and sweating profusely as nurses pierce a vein on his head, is the first victim of “bubble boy” disease discovered since Colorado began a new testing regimen. But his parents feel as lucky as a family pinning down the arms of their wailing baby could feel.
On Feb. 1, the state added the genetic ailment SCID, or severe combined immunodeficiency syndrome, to the package of 34 disorders screened for in every new baby’s blood test. On Feb. 16, Jagger’s parents learned their boy was the first “bubble baby” discovered.
The news was a crushing blow — yet an improvement over the alternative.
If Mandee and Jeff Kiersch had had to wait to find out, after Jagger became deathly ill, his chance of survival would have been minute.
“Early diagnosis is crucial,” said Dr. Erwin Gelfand, National Jewish Health’s expert on the disease. The related family of immune diseases is “pretty much universally fatal before six months” when undetected, Gelfand said.
Gelfand flew to Texas to consult on the case of David Vetter, the original bubble boy who lived from 1971 to 1984 inside a protective plastic shell. The case became part of American medical history, and Gelfand was forever marked by the harsh truth of isolation from human touch.
“There’s a lot of emotion and a lot of tension,” Gelfand said, in all SCID families. “It takes its toll.”
Untreated, children with SCID lack all natural immunities to germs, viruses and other environmental threats. They usually die within their first year, with debilitating bouts of diarrhea, pneumonia and other infections.
The condition is rare — only one to three of the 70,000 to 80,000 babies born in Colorado each year will be a “bubble” case — and adding the disease into the extensive baby test pack bumps the price by $7 to $92 at state labs.
Catching the disease at birth, though, can save nearly $2 million in treatment costs for each case. Those who get a successful marrow transplant can go on to a normal life.
Colorado was the seventh state to add the test to its baby package, alongside familiar and obscure illnesses such as cystic fibrosis and maple syrup urine disease.
The system, like most medical testing, can turn up false positives or borderline results in addition to real cases. National Jewish, with Gelfand as a renowned expert on the disease, retests all SCID-leaning cases.
For any tests that remain positive, National Jewish asks parents to bring in their child for a final diagnosis. A few of those then begin the long process of absorbing the terrible news.
National Jewish expected about 15 families for diagnosis in the first year, with just a couple of full-blown SCID cases. Instead, the hospital has had preliminary meetings with 11 families since February, an anomaly it can’t explain.
Wisconsin tested 100,000 babies before it confirmed a “bubble boy” baby. Jagger’s test came at about the 2,000 mark for Colorado.
Jagger Kiersch’s official diagnosis with Gelfand led to a four-hour orientation on SCID in February.
“That was when we started feeling there was hope,” Mandee Kiersch said.
A date for the cure helped enormously. Bone-marrow transplants can “replace the factory” of Jagger’s immune system, and he found a match to undergo the procedure in late May. The Kierschs are packing bags for four to six weeks in the hospital.
In the meantime, they quickly cover Jagger’s baby buggy with a blanket when friends and their germ clouds approach in Castle Rock. Jagger and Mandee are on a no-visitor regimen at home.
The sterility demands are daunting even to those used to them. At last week’s visit to National Jewish, Mandy began wiping Jagger’s arms with the wrong antiseptic cloth, prompting a brief flurry of kind-but-firm nurse intervention.
Their monthly visit for temporary immunity boosts at National Jewish Health is an ordeal of finding a tiny vein, keeping a drip line in a flailing body and quieting an exhausted Jagger.
As Jeff Kiersch patiently cradled Jagger through a series of agonizing vein searches, Mandee alternately fretted and shrugged off her baby’s fits.
“We’re used to it,” she said, her agitation revealing that as a goal rather than a fact.
Her biggest mistake with SCID, she said, was going from an early test-result meeting to hours of searching the Internet.
Asked what advice he gives at the diagnosis, Gelfand ruefully responded, “Our advice is to stay off the Internet.”