Cameron's story: CS baby's death puts rare disease in focus

Like most expecting mothers, Jennifer Garcia prepared for the arrival of her second son, Cameron, in every way she could think of.

"As a parent, I spent many hours researching the best car seats, strollers, baby food, contemplated pros and cons of immunizing my babies, and read books on parenting," the 38-year-old College Station resident said. "Never once did I know that I should have been researching newborn screening as well."

Garcia knew that Texas newborns were routinely screened for a gamut of diseases, a process that involves taking and testing blood samples 24 to 48 hours after birth and again when the baby is 1 to 2 weeks old. Newborns are screened for 29 disorders, but not the one that killed Cameron -- Severe Combined Immunodeficiency, a rare affliction that prohibits infants from developing a normal immune system.

It's believed that between 1 in 30,000 and 1 in 100,000 babies are born with SCID each year. Because many SCID babies die before being diagnosed, the incidence rate is hard to pinpoint and could be higher.

Without screening specifically for SCID, it's difficult to diagnose. SCID babies appear healthy at birth, and the early symptoms -- which typically appear between 3 and 6 months -- often resemble those of common infant ailments such as ear infection or pneumonia. As a result, SCID babies' immune systems aren't strong enough to fight off viruses that healthy infants quickly rebound from.

By the time doctors realize they're dealing with something more serious than a common infection or virus, it's often too late for treatment -- the most successful of which is a bone marrow transplant.

Screening is spotty

In 2007, reliable newborn screening for SCID was developed and in May 2010 it was added to the nationally recommended testing list by the Department of Health and Human Services. The same blood samples taken to screen for other diseases are now used to test for SCID.

The Texas Department of State Health Services implemented a pilot program in October 2010 that allows participating hospitals across the state to offer SCID screenings by having parents sign a consent form. State officials said they hope to add SCID to the list of routine screenings once the pilot study is completed and they can determine the best way to implement the screen statewide.

The goal was to sample 20,000 babies for SCID within the first year, but state officials said so far only 2,030 babies have been screened.

When Cameron died March 30, only two hospitals in Texas had been recruited to participate in the program and both were in Austin. Since then, Garcia has been determined to prevent other families from having to go through the pain her family suffered.

She's become a Department of State Health Services volunteer educator and recruiter and has worked with doctors and nurses at St. Joseph Regional Health Center and the College Station Medical Center.

"This paper could've saved my child if I would have had it," Garcia said, holding a SCID screening consent form.

Telling Cameron's story

During an at-home interview with The Eagle, Garcia -- who has a 5-year-old son, Gavin -- sat at her kitchen table flipping through a photo album and explaining Cameron's experiences through pictures that spanned his short life and chronicled the progression of his disease

"He was a happy, healthy, big baby," she said, looking at a picture of 6-month-old Cameron smiling and sitting up in a reclining chair.

Shortly after the photo was taken, Garcia said he began getting ear infections, which isn't unusual for infants. Cameron underwent surgery to have tubes put in his ear to prevent infections just as his older brother had.

About a week later, in mid-February, he still was having cold-like symptoms that caused Garcia to think maybe his tubes hadn't been plugged correctly. A trip to their pediatrician's office revealed the tubes were fine, but the doctor suspected Cameron had a touch of pneumonia. He prescribed breathing treatment medicine and told them to come back the next day.

When they went back on a Wednesday, the doctor urged Garcia to take Cameron to the emergency room after finding his oxygen levels were low. He was given oxygen and appeared to be improving for about three days, Garcia said. In pictures taken of him in the hospital, a healthy-looking Cameron was in bed playing with his socks and toys.

"Sunday, he took a dive," Garcia said. "He needed more oxygen and was more fussy than usual."

At that point, Garcia said she still wasn't too alarmed because Cameron didn't have a high fever. She realized a few months later that because of SCID, his body wasn't capable of producing a fever.

By the following Wednesday, a week after being admitted to the hospital, Cameron hadn't rebounded and doctors grew more concerned they were missing something. They sent Cameron in an ambulance to Memorial Hermann Hospital in Houston, while Garcia drove herself.

Because they weren't aware of how serious the condition was, Garcia and her husband agreed he should stay in town for mandatory work training. She figured she'd get to go home later that night.

"When we left the hospital here, we had a happy baby, just a little fussy," she said. "The ambulance beat me to the hospital by about 30 minutes. So when I got there, the doctor was already holding Cameron. He was still fussy and was tapping his foot in a consistent rhythm."

The doctor thought he was having a seizure and immediately called for a CT scan.

"I still have my luggage on me and I'm following them to where they're doing the scan. I only got to hold him for a few minutes before they put him in the bed," she said. "Emotionally, I'm a volcano. I'm confused. I'm scared. I'm by myself. I don't know what's happening and when."

The baby was put under mild sedation for the scan and his foot was still tapping when he woke up four hours later, Garcia said.

When the results came back without revealing anything, the doctors decided to put Cameron in an induced coma and performed diagnostic tests and attempted treatments. Garcia turned toward a photo of her sleeping child with tubes and IVs coming out in every direction.

Doctors believed he could have meningitis as well as pneumonia and were providing medication for both, in addition to administering broader treatment. Even at that point, Garcia said, the doctors were confident Cameron would pull through.

"You never think it's not going to be fine," she said.

Ten days after arriving at the hospital when 8-month-old Cameron was still fully sedated, Garcia returned to College Station to see Gavin and run some errands. While in town, her husband, who had gotten to the hospital the morning after Garcia and Cameron had arrived, called from Houston and indicated they'd likely have a diagnosis by the end of the day.

When she got back to Hermann, the doctors had determined Cameron had SCID.

"I said, 'What is that?'" Garcia said.

But she knew what it was after being reminded of David Vetter, a child born with the disease in 1971 in Houston who died at age 12. Vetter's story was popularized five years later in a made-for-TV movie starring John Travolta called The Boy in the Plastic Bubble.

"As a mother, I'm always going to be asking, 'How did this happen 40 years after the boy in the bubble?'" Garcia said. "We don't screen for something fatal, but we screen for hearing?"

Treating SCID via bone marrow transplant can't be done unless the patient is stable. After weeks of trying to get Cameron to a point where doctors could attempt a transplant, Garcia said it started to become clear that it may not be possible.

At that point, the issue became a matter of quality of life. Cameron had been sedated for nearly five weeks and was relying on machines to keep him alive.

On March 30, after days of praying and waiting for Cameron to take a breath on his own, his parents had to make the hardest decision of their life. They had the machines turned off.

In the last photo in the album, Garcia is holding and looking down at 9-month-old Cameron, wrapped in blankets as he took his final breaths.

Preventing future cases

Since becoming a participant in the SCID pilot study at the beginning of September, officials at College Station Medical Center said they've collected more than 260 consent forms.

"Nine out of 10 families sign the form without hesitation," said Amanda Brown, a nurse for newborns. "These days, people like answers and this [test] gives them answers. The fact that the test requires no extra blood and comes at no cost to them, they've really been like, 'This is a no-brainer.'"

Tamara Congdon, director of the nursery and pediatrics at St. Joseph Regional Health Center, agreed, saying she hadn't heard of anyone refusing the screening since her staff started offering it about two weeks ago.

Congdon began working at the Bryan hospital in January. Until Garcia came forward with Cameron's story, she said, she wasn't aware that Texas babies weren't screened for SCID.

"I think when we have an awareness brought to our attention we have a professional and ethical responsibility to step up and approach things differently," Congdon said.

The obvious benefit of the pilot program is the early detection of SCID, Congdon said, but it also provides important medical research data. Because SCID is so rare and screening for it is still relatively new, studying the disease has been a challenge.

"Through the pilot study, there's a lot of opportunity to really learn what we need to and give the best care possible to our kids," Congdon said.

Through data collected from the Texas program, Congdon hopes researchers will be able to pinpoint a more accurate incidence rate and determine if the disease is more prevalent in specific population groups, as well as make other potentially important discoveries.

Garcia said until state officials decide to officially add SCID to their newborn screening list, she'll continue pushing the issue.

"Cameron is my hero; he went places adults fear," she said. "This is the way I've chosen to deal with my grief."