I regularly lead Laboratory tours for new employees. Without question, the most visually interesting stop is the Parasitology Laboratory where various organisms are displayed in conjunction with fascinating stories by Team Lead Cathy Snider. Read the article on “Chagas Disease and Laboratory Diagnosis” to join in our show and tell.
Each year the Laboratory’s Emergency Preparedness Branch opens its doors to host Biosafety Level 3 (BSL-3) Training for members of the Laboratory Response Network. Read the article on "BSL-3 Students Learn to Work Safely" to understand the stringent training—from personal protective equipment to emergency procedures—needed to work in a BSL-3 laboratory. Despite my fascination with virology and this kind of high-security laboratory, I’m content to forego this as a tour stop. Here in the Laboratory, we take safety seriously.
Why Newborn Screening Matters...
Sometimes the value of public health laboratory testing is most apparent when vital tests are unavailable. Such was the sad case for baby Cameron, who was born in Texas on June 30, 2010 and died tragically on March 30, 2011, at just nine months of age.
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| Cameron and his older brother |
Cameron was discharged from the hospital as a normal, healthy newborn. Indeed, as the months went by, he was in the 90th percentile for height and weight, with no problems other than the ear infections that bother so many babies. But after getting tubes in his ears at seven months— just like his older brother, Gavin— Cameron developed cold symptoms that wouldn’t go away.
In February, 2011, he was hospitalized for pneumonia. But with his condition worsening, he was transferred one week later to a specialty hospital for advanced care. Within hours of his arrival, doctors induced coma to stop what appeared to be seizures. His mother, Jennifer, said, “We would not get to hold Cameron in our arms again for over four weeks, until the last moments of his life.”
During those heart-wrenching weeks, Cameron endured CAT scans, MRIs, EEGs, spinal taps, blood transfusions, massive doses of antibiotics, antiviral agents, antifungal agents and other medications. He was treated by critical care providers, pediatricians, neurologists, epileptologists, toxicologists, immunologists, infectious disease physicians and respiratory therapists.
After ten interminable days, Cameron was diagnosed with severe combined immune deficiency (SCID), also known as “bubble boy disease.” In effect, he had no working immune system. Like many infants with SCID, Cameron’s family had no history of the disease. Moreover, Cameron exhibited none of the most common symptoms, such as failure to thrive.
“Point blank,” said Jennifer, “Cameron did not fit the profile of a SCID baby.”
And here’s where the tragedy is compounded: SCID is readily detectable at birth, with a newborn screening test that costs about $6. But while Cameron was tested for more than two dozen newborn screening disorders, at the time of his birth the SCID test was available only through two pilot programs, one in Wisconsin and the other in Massachusetts. Based on the results of those efforts, on May 21, 2010— when Cameron was not quite two months old— the US Department of Health and Human Services added SCID to its core panel of genetic disorders recommended for state-based newborn screening.
This momentous development came too late for Jennifer’s “dear, sweet Cameron.” If a baby with SCID receives a bone marrow transplant within the first 3.5 months of life, the survival rate is as high as 94%. But at nine months old, Cameron was already too ill for a transplant. In a last desperate measure to save his life, physicians performed a brain biopsy to try to identify the infection that was attacking him so fiercely.
Jennifer said her son went into a coma, “not to wake again.”
“I cannot begin to describe to you,” she said, “the heartache and helplessness a parent feels after losing your child, your baby, and you do not even know exactly what stole him from you.”
For want of a $6 newborn screening test, Cameron endured over $830,000 worth of medical care. The cost of his funeral was over $3,800.
“Point blank,” said Jennifer, “Cameron did not fit the profile of a SCID baby.”
And here’s where the tragedy is compounded: SCID is readily detectable at birth, with a newborn screening test that costs about $6. But while Cameron was tested for more than two dozen newborn screening disorders, at the time of his birth the SCID test was available only through two pilot programs, one in Wisconsin and the other in Massachusetts. Based on the results of those efforts, on May 21, 2010— when Cameron was not quite two months old— the US Department of Health and Human Services added SCID to its core panel of genetic disorders recommended for state-based newborn screening.
This momentous development came too late for Jennifer’s “dear, sweet Cameron.” If a baby with SCID receives a bone marrow transplant within the first 3.5 months of life, the survival rate is as high as 94%. But at nine months old, Cameron was already too ill for a transplant. In a last desperate measure to save his life, physicians performed a brain biopsy to try to identify the infection that was attacking him so fiercely.
Jennifer said her son went into a coma, “not to wake again.”
“I cannot begin to describe to you,” she said, “the heartache and helplessness a parent feels after losing your child, your baby, and you do not even know exactly what stole him from you.”
For want of a $6 newborn screening test, Cameron endured over $830,000 worth of medical care. The cost of his funeral was over $3,800.
Fortunately, thanks to the work of state public health laboratories and partners in Wisconsin and Massachusetts, SCID screening has been shown to be practicable and cost-effective. Today, many states— including Texas— have pilot SCID screening programs, with the intent of adding the disorder to their routine newborn screening test panels so babies like Cameron can be saved. In fact, Jennifer now volunteers with the Texas health department, educating other parents about the importance of newborn screening.
Altogether, state public health laboratories perform or oversee the screening of 97% of babies born in the US each year, testing for more than two dozen conditions, which, like SCID, can result in death or disability if not treated soon after birth.
Of the 4.5 million US babies screened annually, over 4,000 screen positive for a genetic or metabolic disorder. With early diagnosis and treatment, these babies have a better chance of leading long and healthy lives.
Altogether, state public health laboratories perform or oversee the screening of 97% of babies born in the US each year, testing for more than two dozen conditions, which, like SCID, can result in death or disability if not treated soon after birth.
Of the 4.5 million US babies screened annually, over 4,000 screen positive for a genetic or metabolic disorder. With early diagnosis and treatment, these babies have a better chance of leading long and healthy lives.
Originally published in APHL Stories from the Field.
