Friday, July 13, 2012

Publications: Photo book and work newsletter on why newborn screening matters

Since my last post, I have been happily buried in publication projects both at home and work. My son's two year photo book is now finished! I carefully selected and edited each of the 65 pages of photos and printed via Picaboo. When my books arrived, I discovered that I had to re-edit and re-print due to a glitch in the newest Picaboo software (some images were improperly zoomed, resulting in faces being cut in half). It was a hassle to have to return to the project that I thought finished, but Picaboo was good to work with and I am very happy with the final result. Sometimes extra time with a publication is all for the good.

My work newsletter will be familiar to regular readers. This issue marks three years of publication for The Laboratorian, and it’s funny how important public health projects come back around. One year ago, my editorial focused on the Laboratory Newborn Screening (NBS) program, highlighting how we continue to work on “Improving Health Outcomes for Children”. Our NBS Laboratory—already the largest testing volume NBS program in the world—is adding another test to the current panel of 28 disorders. In 2011, we received 741,650 specimens, which is about 62,000 per month or 2,456 per work day. With the addition of Severe Combined Immunodeficiency (SCID) to the screening panel in Fall 2012, each newborn in Texas will be screened twice for 29 disorders. For more details, read the article on “SCID Coming Soon to Texas Newborn Screening Panel”. As our laboratory works toward this goal, we remember baby Cameron. For Cameron, newborn screening for SCID didn't come quite soon enought. (See below for "Why Newborn Screening Matters...")

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.
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.

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.
Originally published in APHL Stories from the Field.

No comments:

Post a Comment