Bubble Boy: Six-Week-Old Boy Recovers in Dallas

Bubble Boy Comes from Family of Bubble Boys

 

DALLAS, TX – Six-week-old Brady Stewart is one in a million. He’s also one of about 100 kids a year in the United States diagnosed with severe combined immunodeficiency syndrome, or SCID. It’s probably better know as ‘bubble boy disease.’ Brady was born without an immune system, he’s not in a bubble. His mother Jeanie says doctors and nurses who wear scrubs and masks are among the few who get to be near him.

“So he is protected in there as much as he can be. I’m just really careful; I mean, I wash my hands a thousand times a day it seems,” says Jeanie.

And for good reason. Medical City Children’s Hospital hematologist Dr. Stan Goldman says that without an immune system, any germ could be deadly.

“Left untreated, SCID is usually fatal in the first few years of life, not because of the immunodeficiency, but because of the infections you can’t fight off.” Says Dr. Goldman.

About a month ago, Brady received a bone marrow transplant from his dad. Doctors are now waiting for immune cells to grow. Bubble boy disease is transmitted from mothers to sons and only boys can have the disease. Jeanie’s brothers, Matt and Daniel, were bubble boys, Daniel almost died. Brady has two nephews, Trey and Clayton, who are also bubble boys. Jeanie says that all are now leading normal lives.

“Knowing that, it was comforting, going into it, I mean, I always knew we were going to have children, even though this was an issue and I wouldn’t trade it for the world.” Says Jeanie.

Brady was diagnosed with the disease at eighteen weeks. He was born in Oklahoma City and then taken to Medical City Children’s Hospital where his mom says he is thriving in isolation.

“He’s doing amazing, he’s gaining weight everyday and he just seems like a normal baby.” Says Jeanie. “You would never know anything were wrong with him if we didn’t know in advance.”

And until he grows an immune system, Jeanie says his hospital room will be home.

“He’s pretty protected, but if he was out in the real world, it would be very scary.”

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SCID’s The Worst of Primary Immune Deficiency Disease or The Bubble Boy Disease

SCID’s The Worst of Primary Immune Deficiency Disease or The Bubble Boy Disease

SCID Kids Leading Healthy, Normal Lives 25 Years After ‘Bubble Boy’

Oct 12, 2009 – 1:00:27 PM

(HealthNewsDigest.com) – DURHAM, N.C. – Mention the words “bubble boy” and many will recall David Vetter, the kid with big eyes and a thick thatch of dark hair who died 25 years ago after spending almost the entire 12 years of his life in a germ-free, plastic bubble.

David was born with severe combined immune deficiency, or SCID, a condition that robbed him of an immune system.

Since David’s death however, researchers have refined treatment options for children with SCID, and today, as scientists at Duke University Medical Center report in The Journal of Pediatrics, most of them who undergo related donor bone marrow transplants manage to grow up, go to school, and for the most part, lead pretty normal lives.

That conclusion comes from the longest and largest study to date of children with SCID treated at a single center. Led by Rebecca H. Buckley, M.D., professor of pediatrics and immunology at Duke, researchers followed for up to 26 years 110 of the 124 surviving SCID children out of the 161 who had come to Duke for bone marrow transplants. The study involved periodic questionnaires and visits to Duke for reassessment of various aspects of their lives, including immune function, growth, behavior, nutritional needs, mental, physical, and emotional well-being and any trouble with recurrent infections.

Buckley says the data clearly show that SCID infants who receive a related donor bone marrow transplant within the first 14 weeks of life are significantly more likely to survive and have fewer problems over time than those who receive transplants later in infancy or who have already developed an infection.

Buckley says the findings underscore the need for SCID testing at birth. “If we can identify children with SCID at birth, we can save more lives. When we transplant these babies prior to the onset of infections, 94 percent survive. But if they are older or if they have already developed an infection, only 71 percent will live.”

There are at least 13 subtypes of SCID, but all arise from genetic mutations that are either inherited or arise in the infant. SCID is described as a rare disorder, but Buckley points out that no one really knows how often it occurs because testing for the condition at birth is not done. “Babies frequently die from infections, but no one thinks about SCID,” Buckley says, “and autopsies are rarely done any more, so the death certificate simply lists ‘infection’ as the cause.” Buckley believes SCID may actually be as prevalent as PKU, an inherited metabolic disorder that is routinely identified and treated through newborn screening.

Buckley has been advocating for over a decade about the need for routine screening for SCID in newborns.

So far, the only states to perform it are Wisconsin and Massachusetts, which are conducting pilot studies.

In the Duke study, 77 percent of the children survived and 86 percent of those were considered healthy by their parents, says Buckley. Still, growing up with a corrected immune system is not always a sunny experience. Investigators found that 58 percent of the children needed periodic antibody therapy because of inadequate B cell function, and about one-third required antibiotics. In addition, about 10 percent had some sort of developmental delay and about 20 percent had attention deficit disorder, often due to the lack of an enzyme called adenosine deaminase, one of the causes of SCID. Other conditions appearing in a minority of the patients include diarrhea, rashes and HPV infection. Some of the conditions appeared more frequently in certain SCID subtypes than others.

At least two other centers specializing in SCID have recently published long-term outcome data on their patients, but more of Buckley’s patients survived and the survivors are healthier, in general, than their SCID Kids Leading Healthy, Normal Lives 25 Years After ‘Bubble Boy’ Buckley, director of Duke’s Immune Deficiency Foundation Center of Excellence for Primary Immunodeficiency Diseases and a member of the Institute of Medicine, says the difference may lie in Duke’s therapeutic approach.

Unlike other centers, Duke does not use chemotherapy before performing a bone marrow transplant in a SCID infant. “SCID babies do not have any T cells, so they cannot reject a graft. Chemotherapy can harm the lungs, liver and other organs and those who receive it may be sterile as adults.”

Even though a tissue-matched related donor – the ideal donor – is rarely available for these infants (only 16 had them in her series), Buckley was able to use half-matched parental donors in the other 145 by using a process to strip away the donor’s T cells from the marrow graft to prevent potentially fatal graft-versus-host disease. If T cells are not removed from half-matched marrow, the SCID infant would die of graft-versushost disease—a reaction of donor T cells against the infant. Removing the T cells from the donor bone marrow also allows omission of immunosuppressive drugs after the transplant, a practice routinely used in many centers. “Giving a SCID infant drugs to suppress the immune system is counterproductive if you are trying to build a new immune system,” she says.

In the future, other therapies may be possible. “Gene therapy is likely to be the best option — if the problems encountered to date can be worked out,” says Buckley. Gene therapy trials were halted in 2003 after some patients developed cancer following the therapy, but new trials that may be safer may start soon.

The research was funded by the National Institutes of Allergy, Immunology and Infectious Diseases.

Duke coauthors of the study include Mary D. Railey, M.D. and Yuliya Lokhnygina, Ph.D.

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Edgar toddler first ‘bubble boy’ survivor

Edgar toddler first ‘bubble boy’ survivor

State-mandated test at birth identified fatal disease

By Megan Loiselle
Wausau Daily Herald

EDGAR — A 1-year-old Edgar boy has become the first child in the world to be saved from a fatal immunodeficiency disease, just months after Wisconsin became the only state to test for it at birth.

Dawson Bornheimer’s family on Sept. 25 celebrated the first anniversary of a lifesaving bone marrow transplant that treated his Severe Combined Immunodeficiency, or SCID — also known as “bubble boy disease.” The disease is fatal if not treated in the first few months of life.

The state’s pilot program for the screening was funded in part by the Jeffrey Modell Foundation, established by Vicki and Fred Modell in memory of their son who died at age 15. Dawson was honored as the “man of the year” by the foundation at a gala this spring in New York. The screening now is routine for the estimated 70,000 births in the state annually.

“They caught it, and because of that, we get to play with you every day,” his mother, Melissa Bornheimer, said during an interview at her home, as she patted Dawson’s leg.

Twelve days after Dawson was born on June 12, 2008, the Bornheimers received a call saying he had failed the test for SCID — a test they didn’t even know he had been given.

Melissa said at first she thought the test had to be wrong because Dawson seemed fine.

Hours after the call, the Bornheimers took Dawson to the hospital with a fever. He was released with what doctors said was a viral infection. Days later, his belly button became infected so badly that it had to be removed at a hospital in Madison.

In a span of a few weeks in August, Dawson was checked into the Children’s Hospital of Wisconsin in Milwaukee for a blood transfusion as well as surgeries to remove abscesses growing on his neck and to fix a hole in his trachea. Test results showed his bone marrow wasn’t producing white blood cells strong enough to attack infections in his body. The only cure would be a bone marrow transplant.

On Sept. 25, 2008, he received the transplant, with marrow donated from a baby in Germany. Some of Dawson’s vital organs shut down as his body struggled to adjust to the donor’s marrow, but Melissa said his body eventually accepted the bone marrow.

One year after the transplant, Dawson still has 100 percent of his donor’s bone marrow, which means chemotherapy he received last year was successful in eradicating all of his own bone marrow.

Melissa, 35, said the couple had great health insurance through Mike’s work as a material handler at Wausau Supply Co. It allowed the family to focus on Dawson rather than worrying about his $1 million in treatment costs.

Today, Dawson often crawls around the floor and plays at home with his 9-year-old brother, Dylan. Dawson will start walking soon.

His grandmother Ione Bornheimer of Athens said every time she and her husband, Harvey, visit, they see more improvements.

“He’s making big strides,” she said. “It has been very hard on the family but he’s our little miracle baby.”
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‘Olivia’s Fund’ gets barbecue boost

‘Olivia’s Fund’ gets barbecue boost

The Silliker family and supporters are grateful to the community for its support. As a result of that support, Olivia Silliker’s (small photo) future is considerably brighter following a bone marrow transplant courtesy of her four-year-old sister Mackenzie.

Community support

Family and friends of Olivia Silliker are overwhelmed by the community spirit and generosity displayed at a fund-raising barbecue outside Chrissy’s Variety Store.

The recent barbecue raised $1,500, for which the family and supporters wished to express thanks from the bottom of their hearts.

Olivia was born June 9th to parents Mark and Anna and hospitalized August 5th with a diagnosis of ADA SCIDS (Severe Combined Immunodeficiency). In layman’s terms, the rare (one in every two million births) condition means her immune system does not function properly, and a common cold can be deadly

Treatment for ADA SCIDS is a bone marrow transplant.

The immediate family was tested and a perfect match found in Olivia’s four-year-old sister Mackenzie. One week after admission to Sick Kids hospital in Toronto, the transplant took place with the support of a very brave older sister. Mackenzie has since recovered from the procedure and attended her first day of school September 22nd.

Olivia remains in Sick Kids, in an isolation room, which filters air 500 times per hour. To interact with Olivia, her family needs to protect her from germs by using sterile gowns, gloves, hairnet, boots and masks.

It is unknown how long she must be in the hospital, but her family has been told to prepare for a lengthy stay. Olivia’s blood is taken regularly to ensure her white blood cells are increasing and tests are done to determine whether the bone marrow transplant was a success. She will not be released until it is positive that she has developed an immune system and will be able to fight infection on her own.

In the interim, Anna’s desire to remain with her daughter is being challenged by financial realities. Her maternity leave from a subsequently-closed plant (DDM) will come to an end, highlighting the additional financial pressures of living costs and travel expenses exacerbating the family’s natural stress caused by their daughter’s medical challenges.

Fund-raising efforts have been organized, including the barbecue, in order to provide financial assistance for Anna to stay by Olivia’s side through accommodation at Ronald McDonald House in Toronto, as well as with monthly bills and everyday living expenses.

“I would rather sell my house than leave her there all alone,” said Anna.

Additional fundraisers will occur over the next few months, however friends and family are encouraging the public to donate whenever possible to assist the Silliker family.

Donations can be made at St. Mary’s Roman Catholic Church in Tillsonburg. Cheques are to be made payable to St. Mary’s RC Church specifying that the donation is for “Olivia’s Fund” and a tax receipt will be issued.

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