‘Bubble Boy’s’ mother speaks: Improving life for children with primary immunodeficiency diseases

It’s been more than 30 years since David Vetter, better known as ‘Bubble Boy,’ passed away as a result of complications from severe combined immune deficiency (SCID).  Due to his condition, David lived his entire 12-year life within the confines of a sterile plastic bubble. But today, thanks to medical advances made possible by studies of David’s disease, children with SCID often live normal and healthy lives.

“My hope, when David passed away, my prayer at the time was that the bubble had burst for all time,” David’s mother, Carol Ann Demaret, told FoxNews.com.  “My prayer, in that regard, has been answered with newborn screening and the advancements that have been made, but there are still children suffering, and to ensure a better quality of life is what I hope for.”

As a part of National Primary Immunodeficiency Awareness Month, and World PI Week (April 22 – 29), Demaret, along with David’s former physician, Dr. William T. Shearer, is hoping to raise awareness about how far immune deficiency research has come – and what still needs to be done.

“When you think about David’s contribution to science, the lessons we learned from David were far more powerful than from any textbook I’ve ever read,” Shearer, now a professor of pediatrics and immunology at the Baylor College of Medicine in Houston, Texas, told FoxNews.com.

David’s story
Patients with SCID, a type of primary immunodeficiency (PI) disease, lack function in both their T-lymphocytes and B-lymphocytes – the white blood cells that help the body fight infection. SCID is considered to be among the most serious of PI diseases. When David was born, on September 21, 1971, the condition was considered nearly always fatal, and had already claimed the life of David’s older brother.

Because of his family history, David was diagnosed with SCID at 2 weeks old, allowing doctors to take measures to preserve his life. At the time, many children with SCID were not diagnosed until months after birth, when they had already contracted serious, often deadly infections.

“There was no alternative but to keep him in that germ-free environment, away from bacteria, viruses and all those other things most of us wander through on a daily basis,” Demaret said.

David spent his entire life within his bubbles – NASA even constructed a sterile play space and suit so David could occasionally venture outside.

“David knew his condition was different but had acclimated his heart and soul to waiting out science to find the answer we all desperately needed,” Demaret said. “Nothing was kept from David, as he grew and became inquisitive he was told [about his condition].”

By the time David was 12, bone marrow transplant science had advanced, and doctors felt comfortable attempting a transplant on David, using bone marrow from his sister, who had been previously disqualified as a donor because she was not a perfect match. Unfortunately, David passed away on February 22, 1984, when a viral infection introduced during the transplant caused him to develop lymphoma.

Children with SCID today
Today, children with SCID no longer face the prospect of life lived in a bubble. Tests conducted at birth can now detect for SCID within days, allowing children to receive lifesaving treatments to repair their immune systems before possible exposure to deadly infections.

In 2010, then Secretary of Health and Human Services Kathleen Sebelius recommended SCID screening be made part of nationwide uniform infant screening guidelines.

“What this means is every single child in the U.S. will eventually have a test for SCID and severe T-cell deficiencies,” Shearer said. “And the sooner you can [do a bone marrow transplant on] a baby, the better is the chance for survival – it’s approaching 100 percent, even when you don’t have a perfect match.”

Treatment options for SCID patients have expanded greatly. In addition to bone marrow transplants, patients also have the option to undergo experimental forms of gene therapy or enzyme replacement therapy.

“The treatments continue to be refined and the hope of the future is that we could perfect gene therapy to the point where it would be completely safe and would restore the immune system completely,” Shearer said. “We’re not there yet, so we have to use a stem cell transplant from bone marrow or cord blood, for newborn babies. We can perfect that— and we are— and it’s getting better and better every year.”

Shearer attributes much of the knowledge gained about SCID and PI diseases to David, saying the “the immune community grew up along with David.” Studies into his condition helped advance other areas of medicine as well.

“One that doesn’t often come to mind is that of AIDS,” Shearer said. “A study of David’s cells certainly assisted doctors in determining that the very cell that was affected in David was also affected in AIDS, but with a different mechanism– it was congenital problem in David’s genes, and children like him, and in the other case it’s something brought on by an infection.”

Today, Demaret finds comfort in David’s legacy and her work with organizations like the Immune Deficiency Foundation and The David Center at the Baylor College of Medicine, which seeks to provide care for children with immune, allergic and rheumatic diseases.

“There was a more divine plan for David, so that’s what we are left with and David’s contribution to science and mankind is very comforting to his family and has helped with managing our day-to-day sorrow…” Demaret said. “There is comfort in knowing what his purpose in life was and that he is helping mankind.”