A 33 minute long video by Mei W. Baker, MD. Also, available as an audio only MP3 file.
Linkback url: http://videos.med.wisc.edu/videoInfo.php?videoid=1676
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Katie DeLong
SCID causes a defect in the white blood cells that helps protect the body from viruses, bacteria and fungi.
Doctors know that SCID is the result of a mutation in one of at least 12 genes, and bone marrow transplants are presently the best treatment.
Warning Signs:
• Eight or more new ear infections within 1 year.
• Recurrent, deep skin or organ abscesses.
• Two or more serious sinus infections within 1 year.
• Persistent thrush in mouth or elsewhere on skin, after 1.
• Two or more months on antibiotics with little effect.
• Need for intravenous antibiotics to clear infections.
• Two or more pneumonias within one year.
• Two or more deep-seated infections.
• Failure of an infant to gain weight or grow normally.
• A family history of Primary Immunodeficiency.
Click on the link below for more information.
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Susanne Rust
Milwaukee Journal Sentinel
January 7, 2008
MILWAUKEE
On Jan. 1, Wisconsin started screening all newborns for the immune-system disorder known as “bubble boy disease.”
The state is the first in the nation to screen for severe combined immune deficiency. The screen will be added to the state’s panel of newborn screens, which includes a hearing test.
“This, once again, really establishes the state of Wisconsin as being such a progressive state,” said John Routes, professor of pediatrics at the Medical College of Wisconsin.
The state now tests for 48 disorders, well above the federal government’s recommendation of 29.
SCID is considered rare. One study showed that fewer than one in every 100,000 newborns has the disease. But because there have been no screening programs to evaluate the true incidence, experts suspect many more children might have it — and might be dying of SCID infections before being diagnosed.
Routes said some cases of sudden infant death syndrome might be the result of this immune disorder.
“There is no hard data on what the true incidence is in the state of Wisconsin or anywhere,” said Routes, who is also medical director of allergy and clinical immunology at Children’s Hospital of Wisconsin. “But I feel pretty confident it will be higher than one in 100,000.”
The state’s new screening program will provide health officials the first glimpse of the actual incidence.
It might also save many lives.
Successful treatment
According to Routes and others, the disease can be cured by a relatively simple bone-marrow transplant if diagnosed within the first weeks or months of a child’s life. If identified early, children can be treated with a 95 percent success rate.
Last January, the Wisconsin State Laboratory of Hygiene, Children’s Hospital of Wisconsin and the Jeffrey Modell Foundation initiated a pilot program designed to test the methods and feasibility of a statewide SCID screening. Ten thousand anonymous samples were tested during the past year.
‘Outstanding dedication’
At the time the project was initiated, officials estimated that statewide screening would begin in five years. But the success of the pilot program has led to a quicker-than-expected launch of the statewide screen.
“The outstanding dedication demonstrated by everyone involved is the reason we have progressed to the next phase at a record pace,” says Ronald Laessig, director emeritus of population health studies at the State Laboratory of Hygiene, in a news release.
SCID represents a cluster of rare, often fatal, congenital disorders characterized by little or no immune response. The disease causes a defect in white blood cells — the cells that fight off infection from viruses, bacteria and fungi. Without a properly functioning immune system, children and adults with the disorder are often fatally vulnerable to disease.
The disease received widespread attention in 1976 with the film The Boy in the Plastic Bubble, starring John Travolta. The made-for-TV movie was based on a true story of a boy with SCID who died at age 12 after spending his life isolated in a plastic bubble.
According to Routes, SCID is often not detected in children until they are at least a few months old. That is because newborns are protected for several weeks by antibodies they receive from their mothers.
Although not every child with SCID is diagnosed, those who are tend to suffer from frequent infections and might not grow as they should.
The new screen is still on “probation,” Routes said. Although all babies in the state will be tested, the funding is coming from Children’s Hospital and the Jeffrey Modell Foundation. Once the test has been up and running and proven effective, it will be officially added to the panel.
linkback url: http://orlandosentinel.com/news/nationworld/
orl-bubbleboy08jan07,0,7243782.story
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Wisconsin First State in Nation to Screen Newborns for ‘Bubble Boy Disease’
Wisconsin First State in Nation to Screen Newborns for ‘Bubble Boy Disease’
MILWAUKEE, Jan. 3 /PRNewswire/ — On Jan. 1, Wisconsin became the first state in the nation to screen all newborns for Severe Combined Immune Deficiency (SCID). Sometimes known as “Bubble Boy Disease,” SCID is a genetic disorder that is fatal without early diagnosis and treatment. Babies diagnosed can be referred for potentially life-saving treatment.
The Wisconsin Department of Health and Family Services approved moving to phase two of the pilot screening program in which screening for SCID will be routine for all newborns in Wisconsin (estimated at 70,000 annually). The screening has been added to the current panel of 47 other tests that are given to newborns.
The pilot program began one year ago as a collaborative effort between the Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison, Children’s Hospital of Wisconsin in Milwaukee and the Jeffrey Modell Foundation. Phase one involved developing a procedure using residual, unidentified blood specimens from Wisconsin’s nationally recognized newborn screening program.
“The collaboration between the State Laboratory and Children’s Hospital has advanced Wisconsin’s health care for newborns at a rapid pace. The outstanding dedication demonstrated by everyone involved is the reason we have progressed to the next phase at a record pace,” said Ronald H. Laessig, PhD, emeritus director and professor of Population Health Sciences at the State Laboratory of Hygiene, UW-Madison.
“This complex disease can be cured with a bone marrow transplant if diagnosed early before serious infections develop. That is why the early detection and treatment of SCID through routine screening in newborns will save lives. The screening also will spare infants’ repeated and prolonged hospitalizations and save millions of dollars in health care costs. We believe that the Wisconsin Newborn Screening Program will serve as a blueprint for newborn screening in other states, spurring testing to save the lives of infants throughout the nation,” said Jack Routes, MD, medical director of Allergy and Clinical Immunology at Children’s Hospital of Wisconsin.
The Jeffrey Modell Foundation and Children’s Hospital are providing the initial funding for this multi-year pilot. The foundation is a non-profit organization established by Vicki and Fred Modell in memory of their son Jeffrey who died at age 15 from a Primary Immunodeficiency (PI). SCID is one of 140 PI diseases. The pilot, which continues through 2010, will evaluate the effectiveness and outcomes of early testing for SCID. Once the pilot reaches completion, investigators hope for a rapid acceptance of the screening nationwide.
“The workshop held just about a year ago generated results far beyond anyone’s expectations. The Jeffrey Modell Foundation identified newborn screening of SCID as a primary focus of its efforts and has now created a unique federal, state and private collaboration. We are committed to their vision that all newborns will be screened for SCID in a system where true cases are identified promptly and treated effectively,” said Dr. Robert Vogt of the Newborn Screening Branch of the CDC Division of Laboratory Sciences.
U.S. Congress weighs in
In a related development, Congress just passed the first federal legislation funding newborn screening for SCID. Under the program, states will be able to apply for grants from the Centers for Disease Control and Prevention to set up pilot programs specifically for the purpose of screening for SCID.
“These developments are moving faster than Vicki and I could have ever imagined,” said Fred Modell, co-founder of the Jeffrey Modell Foundation. “We now have eight to 10 states considering a pilot program to screen for SCID. We have federal funding, and cooperation by the CDC and National Institutes of Health. The state of Wisconsin is leading the way with accurate screening protocols.” Vicki Modell, Modell Foundation co-founder, added, “We are closer to that day when we will bring a family and their newborn baby to Washington and let our lawmakers know how they have directly saved the life of this baby and so many babies in the future. This is very exciting.”
The Boy in the Bubble: About SCID
SCID is the most lethal version of all primary immunodeficiency diseases. It often is called “Boy in the Bubble” after the movie of the same name that starred John Travolta, the true story of a boy with SCID who died at age 12 after spending his life in a plastic bubble because he was so vulnerable to infection. SCID causes a defect in the white blood cells that helps protect the body from viruses, bacteria and fungi. Doctors know that SCID is the result of a mutation in one of at least 12 genes, and bone marrow transplants are presently the best treatment.
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Thursday, December 20, 2007
Science & Medicine
The AP/Farmington Daily Times on Sunday examined SCID, an immune deficiency disorder prevalent among American Indian children. One in every 2,500 Navajo Indian children has the condition, compared with one in 100,000 children in the general population.
Researchers have isolated about 12 genes that are linked to SCID, and Navajos and Apaches are thought to have the most severe form of the condition, where they lack a certain gene. Without that gene, children with SCID are unable to repair DNA or develop T and B cells, which fight disease.
There is no standard test to detect SCID among children. Children with the condition usually will be diagnosed after having a persistent infection, generally within three months of birth. Jennifer Puck, who studies inherited immune deficiency disorders at the University of California-San Francisco, said she is working on a test that would determine whether a child is immune deficient.
Mortan Cowan, a physician who has worked with SCID patients for more than 20 years, said efforts are under way on reservations to educate doctors about signs of the condition (Fonseca, AP/Farmington Daily Times, 12/16).
linkback url: http://www.kaisernetwork.org/daily_reports/rep_index.cfm?DR_ID=49531
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TUBA CITY, Ariz. — Lorria Trujillo never felt she knew enough to question doctors about her 6-month-old daughter’s health. She didn’t second guess them when they insisted Charlotte merely had a viral infection after months of being sick; she didn’t question them when the girl’s lungs collapsed.
Trujillo watched as her baby was unhooked from life support and held her until she died.
That was 1995.
Written on the child’s death certificate is “severe infection,” but Trujillo now knows the condition that claimed her daughter’s life is the same one her 9-year-old daughter, Grace Marie Yazzie, suffers from.
“With most families, it’s the mother that’s really responsible for taking care of their babies,” the Navajo woman said. “I really felt like I didn’t do my part as a mother, and I kept looking for something I would have missed. Would I have known?”
Without treatment, children have no chance of surviving severe combined immune deficiency — a disorder that’s more commonly referred to as “bubble boy disease” after a Houston boy who was forced to spend his 12-year life in a plastic bubble free of germs.
In the Navajo population, one in every 2,500 children inherit SCID, a condition that endows them virtually no immune system. In the general population, SCID is much more rare, affecting one in 100,000 children.
Before Grace was born, Trujillo had researched SCID, and knowing that she and her now ex-husband had a one-in-four chance of having another baby with the condition, she insisted on a blood test. Although doctors didn’t think the test was necessary, Trujillo knew not to keep quiet this time around.
“The longer it took, the more apprehensive I got,” Trujillo said. “When I saw the doctor come into the delivery room, I could tell there was something wrong. He told me, ‘Yeah, she tested positive for SCID.’ “
Prior to the late 1970s, the illness baffled doctors working with Navajo children. Over generations, families would lose children without explanation.
Morton Cowan, a physician who has worked with SCID patients for more than two decades, encountered his first case in the mid-1980s when he was asked to watch over Navajo patients for a doctor in Denver who went on sabbatical.
To Cowan, the disease appeared to be linked to genes, so in 1986 he and a research geneticist decided over lunch to find the gene — a quest that would take 15 years, Cowan said.
“When we ultimately found the gene and went back, we were able to show that it was the same gene mutation in every Navajo and Apache child that had the disease,” Cowan said.
American Indians typically have had a higher infant-mortality rate than other ethnic groups because of poverty and limited access to medical care, said Diana Hu, chief pediatrician on the 27,000-square-mile Navajo Nation. So when an infant died of infection, “you don’t really notice that is odd,” because others also were dying of infection, she said.
Things changed in the late 1970s and early 1980s with improvements to health care.
“This is not just kids dying; this is something odd,” Hu recalls thinking. “When you start to lower your infant-morality (rate), you start to notice when kids die.”
But detecting the disorder wasn’t easy. What can frustrate parents is that the symptoms of SCID aren’t much different from the common cold or flu. Normal kids can have numerous ear infections in a year but are treated with antibiotics and the infection goes away.
In SCID patients, the infection lingers and worsens.
Researchers have identified about a dozen genes that cause SCID. Cowan, director of the Pediatric Bone Marrow Transplant Program at the University of California-San Francisco, says Navajos and Apaches suffer from the most severe form of the disorder in which they lack a gene called Artemis. Without it, the children’s bodies aren’t able to repair DNA or develop disease-fighting T cells and B cells.
“These kids are the most difficult to treat,” he said.
The autosomal recessive gene found in the Navajo and Apache populations can be passed from one generation to the next without harm. But when two people who carry the gene have children together, there’s a one-in-four chance their children will be born with SCID. The type seen in the Navajos and Apaches is known as SCIDA, because the two groups share a common language root, Athabascan.
• • •
The disorder is something Lynnae Redhouse and Sean Frank, a young Navajo couple, never had heard of.
Day after day, their son, also Sean Frank, would cough until he turned blue and sleep more than a baby should. His hands and feet shook, and soon after he was fed, the milk would come right back up.
Redhouse and Frank knew it was normal for a child to occasionally get sick, but something here wasn’t right.
“It turned into just a routine of waking up all the time for him, because we were so worried he wouldn’t wake us up at all,” said his father.
Each time Redhouse and Frank would seek care for their son, the doctors’ message was the same: Take him home; he’s fine.
It turns out he wasn’t fine, and not until the child was taken to University of New Mexico Hospital did his parents find out their son has SCIDA.
“We never thought anything like this would happen to us. In my heart, when I heard that result, we thought, ‘No, he’s a healthy baby,’ ” Redhouse said. “He just didn’t look like he had SCID. People would say to us, ‘He’s not losing weight; he doesn’t have skin rashes.’ “
Bone-marrow transplants can be a lifesaver for children who suffer from SCIDA, providing them with stem cells that take root and begin producing T cells. But even with the best care, not all children will be saved.
Shortly after receiving a transplant this summer, Sean’s cells are growing, “just a little bit,” Redhouse says, but it could be months before he can return to his home in Farmington, on the edge of the Navajo reservation.
“He has to have a certain number before he gets to go,” said Redhouse from San Francisco, where Sean is being treated.
At a clinic each week, doctors weigh Sean, take his temperature, blood samples, and check for any rashes, changes in behavior or sleeping patterns.
Because SCIDA patients lack the Artemis gene, Cowan and his team have decided not to prep the patients for bone marrow transplants using the standard approaches, such as radiation or chemotherapy, which break down DNA in order to rebuild the immune system.
“It turned out that was extremely dangerous for the Navajo SCID babies,” said Jennifer Puck, who studies inherited immune deficiency disorders at UCSF. “In fact, many of them died before the transplant could be given to them because of the toxicity from the radiation treatment.”
• • •
On a recent day at the Tuba City Regional Medical Center, 8-year-old Justin Knight is playing with action figures as he awaits a bimonthly reunion with two other SCIDA patients.
Inside the infusion room, Trujillo’s 9-year-old daughter, Grace, rants about her favorite sports, how much she likes math and what she has learned from having SCIDA nearly a decade after being diagnosed.
“Take medicine and eat the right food,” she jokingly says, holding up a candy bar. “Chocolate keeps me going.”
A chair opens up nearby, and Justin enters the room.
He and fellow boarding-school classmate Joron Mike stare up at the TV, seemingly oblivious to everything else.
Grace and the boys each have a port-a-cath, a direct conduit to a major blood vessel — implanted in their chest. Prolonging their lives is a two-hour infusion of gamma globulin to reinforce their B cells. Once diagnosed with SCIDA, most patients at the Tuba City hospital are sent hundreds of miles from their homes on the reservation to UCSF Children’s Hospital to undergo transplants.
“These kids just didn’t happen to fully take with the bone marrow,” said Mary Schillo, an infusion nurse at the hospital. “They will have to do this for the rest of their lives.”
Grace pulls out a rubber band wrapped around her dark brown pony tail and reveals a white patch of hair. She boasts about a Mickey Mouse-shaped discoloration on her back. Parts of her fingers and around her mouth also are lighter than the rest of her skin.
She asks her mother she’s like this and nobody else is, why she’s shorter than other children; says other kids make fun of her, Trujillo said.
“It’s kind of hard for her to understand why kids would be mean,” Trujillo said. “I just have to tell her, ‘It’s not your fault. Some kids are different. They think differently.’ “
Researchers aren’t sure why some SCIDA patients never lose their baby teeth, are shorter than other children or have severe oral and genital ulcerations. One theory is that the lack of Artemis could be responsible.
As dinner trays are set down on tables for Grace, Joron, Justin and family members who accompany them to the hospital, they are told to wash their hands.
Germs are their enemies.
While most kids are making mud pies and snowmen, these children are urged to stay away from things that can trigger an infection. A fever or diarrhea could mean a trip to the emergency room.
• • •
About 3,500 babies are delivered each year at hospitals on the Navajo Nation.
A hospital policy manual Hu developed outlines what diseases commonly are seen on the Navajo Nation and what to do if a health provider suspects SCIDA.
“Most of us have been here for 10 years and have seen it happen,” Hu said. Others, she said, “will have read about this stuff but never seen it.”
Cowan said there are continued efforts to educate new doctors on the reservation about what to look for, especially because SCID is diagnosed at a much higher rate on the Navajo Nation than elsewhere.
“Even with that,” he says, children “sometimes slip through.”
Hu wonders whether children she has seen die would have lived if diagnosed earlier.
“Our kids who are diagnosed earlier and transplanted earlier tend to do better,” she said. “Our goal is to spare families from this tragedy.”
linkback url: http://www.abqtrib.com/news/2007/dec/15/
fighting-bubble-boy-disease-among-navajos-apaches/
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Universal Newborn SCID Screening Proposed
As a young researcher in training during the 1980s, Jennifer Puck, MD, helped care for the well-known “boy in the bubble,” who lived in germ-free isolation because of SCID, or severe combined immunodeficiency. Today, researchers know that SCID actually encompasses more than 12 known single-gene disorders that interfere with immune function. Children with SCID are born with faulty immune systems and can die from routine infections.
Today, these patients can be provided with functional immune systems through hematopoietic stem cell transplantation. The best outcomes for the therapy occur when transplantation takes place during the first days or weeks of life, before infections have occurred.
But early diagnosis of the condition often eludes physicians, said Puck, now a UCSF professor of pediatrics and human genetics and medical director of the Pediatric Clinical Research Center at UCSF Children’s Hospital. “The infections that SCID infants are suffering are simply not distinguishable early on from routine infections in otherwise healthy individuals,” she said.
In an article published in the December 2007 issue of Current Opinion in Allergy and Clinical Immunology, Puck reports that a consortium of physicians – called the SCID Newborn Screening Working Group – from throughout the country is now moving toward establishing universal screening of newborns for SCID.
“Because most SCID babies do not have a family history that alerts their doctors of their condition, we need other means for earlier diagnosis of cases, allowing for optimal treatment,” Puck said. “One test for SCID now being proposed would use the dried blood spots that already are collected from newborns for other genetic evaluations.
“Early recognition by pre-symptomatic screening would afford the ideal opportunity for effective treatment to achieve the best possible outcomes,” Puck said.
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Neonatal screening for severe combined immune deficiency |
linkback url: http://pubaffairs.ucsf.edu/today/cache/feature/200712102.html
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10/19/07
Nick: Taylor, honey, you know, you really shouldn’t be here.
Taylor: Oh, I know, I know, that whole anonymous, confidentiality thing.
Nick: Yeah.
Taylor: But obviously, that didn’t keep you away. And I mean, how could I not? This woman just saved our baby’s life. I just–I just want to go talk to her for just a minute. I just want to talk to her and meet her, okay? Come on.
Brooke: (Exhales deeply)
———————————————————————————————————–
Nick: Are you sure that you want to do this?
Taylor: Yeah, it’ll just take a minute. And then we can go see the baby.
Nick: No! Uh, no. Um, I-there he is right here. Th–th–they’re bringing the little guy out.
Taylor: Oh, he’s in recovery. Oh, my goodness. He looks beautiful. I want to go with him. I want to see him…
Nick: Okay, good, good.
Taylor: See him.
Nurse: We’re taking him to NICU now.
Nick: There he is. Okay, good, good. Look at him.
Taylor: Hi, baby. It’s Mommy. Ahh, Mommy loves you so much. Ahh, you’re so beautiful.
———————————————————————————————————–
Bridget: Well, we have every reason to hope that the — the baby’s immune system will correct.
Brooke: And when will we know that for certain?
Bridget: It usually takes a couple months. But there is no mistake that what you have done for Nick and Taylor’s baby is amazing. You’ve given him every chance to have a healthy, normal life.
Brooke: He is a beautiful baby boy. You know, I could almost see the resemblance.
Bridget: Mom, you can’t talk like that.
Brooke: Honey, I know. I know he’s not actually mine. But we both know the history that I have with Taylor, with Nick. And when he tells her that I’m the mother…
————————————————————————————————————–
Taylor: I think he looked so beautiful, and he looked so healthy. Everything’s gonna be just fine. But I do still want to meet the donor. I mean, you got to meet her. Is there some reason you don’t want me to?
Nick: Here we go.
Taylor: There is, isn’t there? Honey, what? What is it? What’s going on? Nick, wh–just tell me why you get to meet her and I can’t.
Nick: Can we just no– leave this rest for right now? It’s been a huge day. We should be grateful that our son is okay. C-can we–can we just let this lay?
Taylor: Meaning there is a reason? There’s a problem? What?
Nick: Let me help you into bed, honey. Come on.
Taylor: No. No, wait. No, please, just tell me what’s going on. When you met the donor, d-did you learn something about her? What is it? What’s going on?
Nick: (Exhales deeply) The woman in recovery– she’s not the donor we selected.
Nick: There was a mix-up at the hospital. We got her egg instead of our donor’s.
Taylor: What?
Nick: Now this is a shock, but what we need to focus on is the fact that our little boy is healthy and he’s okay. That’s what we need to focus on. That’s what we have to take from today.
Taylor: The–the egg donor we selected is not the biological mother of our child? So who is the woman in recovery?
——————————————————————————————————————–
Nick: I know this is a lot to process, but we have to be grateful that our baby got the marrow that he needed.
Taylor: But not from the donor we thought was the baby’s biological mother. So–uh– the woman in the recovery room– wh–wh– what–are you saying this is somebody we don’t even know anything about?
Nick: But she came to the hospital as soon as she knew our son was in trouble. She didn’t hesitate. She went through the entire difficult process of a bone marrow to save our child.
Taylor: (Exhales deeply)
Nick: But to answer your question — (Sighs) there was some confusion during the fertilization. (Sighs) and Bridget asked a lab tech for the Marone donation for in vitro, and instead she was given an egg dish labeled “Marone,” but it was earmarked for research. There wasn’t just one Mrs. Marone.
Taylor: Are you saying… Bridget?
Nick: No.
Taylor: Well, thank God. I mean, I love Bridget. It’s just that you two were married before, and I-I really can’t think of anything more awkward.
Taylor: So whose egg was implanted in me?
Taylor: Nick, whose egg was it?
Nick: It came from Brooke.
————————————————————————————————————————–
Taylor: I did not– I could not have just heard y–
Nick: You did.
Taylor: Brooke? Brooke? What are you talking about? The–the baby is from Brooke’s egg?
Nick: She’s the donor. That’s all. She’s just the donor.
Taylor: No! No! No!
Nick: (Sighs)
Taylor: I wanted a child, Nick– our child. But now what do I have? I have your child with Brooke?!
Nick: No. Taylor, you’re the mother. It’s–it’s yours. You’re the mother.
Taylor: (Sobbing) no! No! She’s–she’s ruined everything.
Nick: That’s not true. She–she–she didn’t know what was going– it’s not her fault.
Taylor: Don’t you dare defend her!
Nick: You–just listen to me.
Taylor: No, I’m not gonna listen to you. She’s–she’s stolen my child from me. She’s taken everything from me all my life. I mean–I mean, I just wanted a clean slate with–with you and–and me and our–our baby. And now it’s–it’s you and me and Brooke’s child. God!
Nick: No, it’s our child.
Taylor: Oh, is it? Is it?
Nick: Yes, yes, he is.
Taylor: Don’t you dare touch me. Don’t. I cannot believe this is happening. I can’t believe it. Oh, my God. (Sobbing) I’ve given birth to Brooke’s baby. I just can’t believe it. This can’t be happening. (Sobbing)
Brooke: Taylor?
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