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Parents, doctors urge states to screen for ‘bubble boy’ disease

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    Samantha Penn was born with SCID in 2009. She was too sick for a transplant and died in 2011.Courtesy of Sara Penn

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    Ray Ballard was born with SCID in 1994. His mother, Barb, said he's "lucky to be alive" after a half-match transplant.Courtesy of Barb Ballard

Samantha Penn was a little more than a year old when she started developing colds and infections constantly.

Doctors didn’t have a clear idea as to why the toddler couldn’t recover from her illnesses, and they never mentioned to her parents, Sara and Jeremy Penn, the possibility that their baby could have a fatal medical condition.

In early 2011, when Samantha was 18 months old, the Penns, who live in Stillwater, Okla., brought her to the emergency room for a high fever that wouldn’t break. They soon discovered their daughter had SCID – severe combined immunodeficiency disorder – defined by the absence of T cells in the immune system.

Without a bone marrow transplant, children with SCID do not live to see their second birthday.

Unable to recover from the savage infections that wracked her body, Samantha died two months later. Her parents were left to wonder how such a tragedy could have happened – especially when a $6 screening test at Samantha’s birth could have prevented the entire ordeal.

Despite the fact that SCID newborn screening is recommended by U.S. Department of Health and Human Services Secretary Kathleen Sebelius, only a handful of states perform the testing – and Oklahoma is not one of them.

“That’s the most frustrating thing,” said Jeremy Penn. “A $5 or $6 screener could have saved her from this miserable disease.”

“That’s the most frustrating thing. A $5 or $6 screener could have saved her from this miserable disease.”

- Jeremy Penn, whose daughter, Samantha, died from SCID-related complications

What is SCID?
April is Primary Immunodeficiency Month and is meant to bring awareness to primary immunodeficiency disorders (PIDD), such as SCID. 

Often referred to as the “bubble boy disease,” the condition became well-known in 1976 when “The Boy in the Plastic Bubble” starring John Travolta was released. The movie is based on the real-life story of David Vetter, a SCID patient who literally lived in a plastic bubble for 12 years to avoid germs. David died in 1984 after an unsuccessful bone marrow transplant.

In addition to lacking T cells, SCID patients also lack the ability to make antibodies, increasing their susceptibility to infections. However, a simple blood test at birth can detect the disease – and allow these babies to be treated before an infection sets in.

At least 9 states and Puerto Rico screen for SCID, but parents like Sara and Jeremy Penn, along with the Immune Deficiency Foundation (IDF) and a few dedicated doctors, are working hard to increase the number of states that screen.

Why screening is vital
Doctors are unable to know for sure how many children are born with SCID, since routine screening is not performed in all 50 states.

Dr. Rebecca Buckley, one of the country’s leading SCID expert and an immunologist at Duke University, said she suspects there are many undiagnosed SCID patients whose death certificates list illnesses like pneumonia or meningitis  as the cause of death.

“With newborn screening, we should be able to know the true incidence of SCID, once all states are screening,” Buckley said. “Already, the preliminary data suggest that it is at least one in 40,000, which is comparable to the incidence of many other non-PIDD diseases that have been screened for years.”

Incidentally, doctors do know that SCID occurs more often in boys than girls, because X-linked SCID is more common than any other types, Buckley added.

The ‘lucky’ one
Virginia mom Barb Ballard knows all too well the effects SCID can have on a child and his family – her son, Ray, was born in 1994 with X-linked SCID. He began getting severe infections at 10 months old.

Ballard said SCID wasn’t even on the pediatrician’s radar – but Ray was always on antibiotics, and he had trouble digesting food.

Ray is lucky, Ballard said; Buckley was able to give him a half-match transplant, and he’s still alive today – but not without complications. 

At 18 years old, Ray cannot eat solid food – he must be fed through a tube, his lungs only function at 60 percent, and he’s moderately to severely deaf. He’s able to go longer periods without getting sick, but he must take preventative antibiotics, Ballard said.

Ballard said she firmly believes if Ray had been diagnosed at birth, he would not have the disabilities he has today. This is why, as a board member of the IDF, she advocates for universal SCID screenings across the country.

“There’s no way to explain how you feel,” Ballard said. “I don’t know how to describe it – it’s more a frustration. These kids don’t have to go through this, they don’t have to get ill, have organ damage and die.”

With transplant, 94 percent survival rate
Buckley, who has been studying SCID since the 1960s, has treated more SCID kids than any other doctor in the world. Of the 171 SCID patients that Buckley has treated with bone marrow transplants, 131 are alive up to 30 years old.

“I’ve been pushing this [newborn screening] for 15 years,” Buckley said. “This can be diagnosed at birth. But if they come in sick later, the survival rate drops significantly because they come in with an infection on board.” 

Buckley served on Sebelius’ Advisory Committee for Heritable Disorders of Newborns and Children when SCID was recommended for the universal screening list, and said it’s in the states' best interest financially to screen babies at birth.

If transplantation can be done in SCID patients by 3.5 months – without pre-transplant chemotherapy or post-transplant graft versus host disease, and before infection sets in – there is a 94 percent success rate, Buckley wrote in Immunologic Research.

However, if a child goes undiagnosed and infections start to set in – health care costs for that child will skyrocket, Buckley added.

‘Samantha’s legacy’
For remaining states that are not screening, the biggest obstacle is finances, not disinterest, according to Marcia Boyle, president of the IDF, which launched the SCID Initiative in 2010.

“I would say, for the most part, we hear positive things from the states,” Boyle said. “They understand that lives will be saved.”

However, the initial setup is costly. Wisconsin, the first state to implement SCID screening, published data saying it costs around $600,000 or more to get the proper equipment and hire new employees.

The final decision to screen is generally made by each state’s department of health, Boyle said.

“This is something that makes sense,” Boyle said of the screening test. “It’s widely believed that an early diagnosis of SCID not only saves lives, but will save money in health care costs in the long run. And if it’s identified and treated early, patients can lead normal, healthy, productive lives.”

The Penns, who are expecting their second child this fall, will request that their new baby is screened for SCID immediately after birth. And they will work tirelessly to ensure that every state implements SCID screening.

“Another family from Stillwater has a baby that had SCID,” Sara Penn said. “She had a bone marrow transplant, and so far it’s successful; her immune system is growing. It’s sort of Samantha’s legacy – helping this little girl and other states – to get this screening so kids don’t have to go through something similar.”

Click here to see if your state is currently screening for SCID.

Click here to learn more about the newborn screening initiative from IDF.