Help by signing the petition

July 29, 2011

Governor Scott in Florida line item vetoed SCID Newborn Screening, even though the Newborn Screening Committee for Florida voted unanimously to start screening.  Let’s tell Governor Scott he was wrong.  You do not need to be a Florida resident to sign the petition.

CLICK NOW  to sign!


CS Mother Pushing for SCID Screening in Texas

July 28, 2011
CS Mother Pushing for SCID Screening in Texas

Having a child is one of life’s greatest gifts. But, imagine having that gift taken away after only nine months.

That’s what happened to one College Station family.

Their seemingly healthy baby boy died in March from a disease rarely diagnosed, but treatable.

Now his mother is on a mission to raise awareness and save babies lives.

“He was just a really sweet, sweet little baby,” mother Jennifer Garcia said.

For the first seven months of life her son Cameron was perfectly healthy, but then he got a cold that didn’t go away.

“They noticed he sounded a little wheezy and of course immediately you think the head cold has just settled in his chest,” Garcia said.

Doctors diagnosed him with pneumonia and when it didn’t get better he was taken to Houston. After three weeks of tests doctors determined he had Severe Combined Immunodeficiency or SCID also known as the Bubble Boy Disease.

Cameron couldn’t develop a normal immune system and two weeks later he was gone.

“We had to literally make the decision what do we do from here,” Garcia said. “We had to hold him and take him off the ventilator and it was a very hard decision that no parent should ever have to make.”

SCID can occur in about one in 40,000 newborns. Although rare, if identified early, babies like Cameron can be treated with a bone marrow transplant.

“These kids can get cured, they can live a normal life,” Dr. Susan Pacheco with the University of Texas-Houston Medical School said.

Pacheco is the Houston immunologist who diagnosed Cameron.

“This is a fatal disease if it goes untreated and the outcome for after a transplant is much higher the early that you diagnose and the sooner that you treat,” Pacheco said.

A simple blood test at birth, costing between $5 and $7 dollars, determines if a newborn has SCID.

But the problem is, the test is not part of the Texas newborn screening panel. Cameron wasn’t tested at birth.

Jennifer is fighting to change that.

“I feel like I left the hospital running out the door saying how could this happen and I don’t want this to happen to another baby in Texas,” Garcia said.

Jennifer is one of many working on getting SCID added to the list of screening tests all Texas newborns are recommended to get. Five states currently test for the disease.

Florida’s governor like others in the past recently vetoed a bill, citing economic reasons.

“When you want to talk about money. Cameron’s medical bills came to almost one million dollars. How many babies could you have screened for a million dollars,” Garcia said.

Jennifer says she won’t give up until all babies are given a chance at survival. A chance Cameron did not get.

An opt-in pilot program is being conducted in Texas and the College Station Medical Center is on board. Starting in the fall or winter, the College Station hospital will start testing babies for SCID.

The Texas Department of State Health Services is conducting the pilot program. Results will help determine the best way to test for SCID when funding is available to add it to the Texas newborn screening panel.

Jennifer is also working with local lawmakers, hoping one will carry legislation into the next legislative session.

Click here to learn more about Texas pilot program

Click here to learn more about Texas pilot program

Click here for more information on SCID

Click here for more information on SCID

If you have any questions for Jennifer Garcia, you can reach her at

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Family pushing for SCID screening

June 8, 2011

Family pushing for SCID screening


ORLANDO, Fla. (WOFL FOX 35) – A family continues to grieve over the loss of a newborn child who fell victim to a rare, but treatable, disease.  They are also taking on a cause which they hope will help save the lives of others.

Kyle Harden, who is still devastated by the deathof his daughter Annabelle, says he has yet to wash her clothes because the smell brings comfort and motivation. Little Annabelle died of Severe Combined Immunodeficiency Disease (SCID), also known as the “bubble boy” disease.

It’s a disease that could have been treated with a bone marrow transplant had their baby simply been screened.

“Her little body wasn’t able to fight anything off,” says Annabelle’s mother, Audrey. “Any disease or germ she came into contact with could do its thing.”

Born seemingly healthy in September of last year, Annabelle began to experience lots of vomiting and reflux beginning four months later. In February of this year, doctors diagnosed with her SCID. She then died six days later of pneumonia and heart failure. Her immune system was useless.

“I was like, ‘Why my baby? Why? Why us? I don’t understand,'” Audrey says.

Now this family is on a mission, along with other families who have lost children. SCID is one of the most treatable of all conditions when screened detected; however, Governor Rick Scott has vetoed the SCID testing newborn screening program, despite the recommendation from the state’s Newborn Screening Advisory Committee that SCID be added to the newborn screening panel.

“I don’t have a daughter, simply because she wasn’t screened for SCID,” says Kyle. “It might be easy to say one in 35,000 isn’t a lot. Until it happens to you, you don’t realize how helpless you really are.”

The Hardens are encouraging others to write the governor to protest his decision. They also have a goal to have Newborn Screening for SCID passed in ALL 50 states. For more information, click on .


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Rare disorder demands quick intervention

October 13, 2010

Rare disorder demands quick intervention

Siblings’ disparate outcomes are emblematic of how important an early diagnosis can be

By KELLY BOTHUM • The News Journal • October 12, 2010

Both of Donna Sawyer’s children were born with the same life-threatening immune disorder that left their tiny bodies susceptible to infections from even minor viruses, bacteria and fungi.

Today, her 12-year-old son, Austin, is a Boy Scout, baseball player and straight-A student at Conrad School of the Sciences. Her daughter, Alex, who is 15, has cognitive deficits and is in special education classes at Christiana High School. She has gone through years of speech, physical and occupational therapies, yet still struggles with physical limitations on her left side caused by a stroke she suffered at 9 months old.

The difference between her children’s outcomes, Sawyer said, is early detection. Austin and Alex have severe combined immunodeficiency, or SCID, a rare condition in which patients are essentially born without a functioning immune system. As a result, they can’t fight off the germs the same way as someone with a functioning immune system. Without treatment, children born with SCID rarely live past their 2nd birthday.

Alex was 9 months old before she was diagnosed with SCID, believed to occur once in every 100,000 births. In that time, she battled repeated ear infections, diarrhea and vomiting, and never seemed to get better. After her diagnosis, she underwent a bone marrow transplant and slowly began to recover, but not before her body went into organ failure. She spent two months on life support and suffered a massive stroke that left her with permanent damage to her brain and the left side of her body.

Because of Alex’s diagnosis, Austin was screened at birth for the genetic disorder. Like his sister, he underwent a bone marrow transplant at Duke University, but suffered none of the complications she did.

“Today, his quality of life is much better than Alex,” said Sawyer, who lives in Newark. “Life is going to be a struggle for her.”

Sawyer hopes to save other children from what Alex experienced by getting SCID added to the panel of diseases newborns are screened for in Delaware.

Bubble boy disease

SCID was once known as “bubble boy disease.” Patient David Vetter gained worldwide attention in the 1980s after a movie was made about his experiences living more than a decade in a sterile bubble to reduce his vulnerability to infection. Vetter died in 1984 after an unsuccessful bone marrow transplant.

Dr. Stephen McGeady, interim chief of the division of allergy and immunology at Alfred I. duPont Hospital for Children, calls SCID a “pediatric emergency” because of the severity of illness in babies born with the rare group of inherited disorders.

In a normal developing immune system, specialized cells mount a response to what the body perceives as foreign invaders. Antibodies attack these invading viruses, bacteria and fungi, generating an immune response. But in patients with SCID, there are defects in these immune responses, so children can’t fight off even minor infections. Children with SCID are at a higher risk of chronic ear infections, thrush and other yeast infections, as well as bronchitis and pneumonia.

Because they lack natural immune defenses — imagine a fighter going into battle without protective armor — these kids seem to stay sick, as they are bombarded with viruses and bacteria that their bodies cannot defend against, said McGeady, who has seen just two cases of SCID in more than a decade at the hospital. In both cases, the patients eventually died.

SCID is one of about 150 kinds of primary immune disorders that are believed to affect 250,000 people in the United States, said Christine Belser, senior director of programs and education at the Immune Deficiency Foundation in Towson, Md.

“One of the biggest problems is that people get a very late diagnosis because only the symptoms are treated. The root cause is not,” Belser said. “You can’t take away the harm that has been done. The important thing is having this diagnosis as early as possible so the right kind of treatment is done.”
Marrow transplants

From the time Alex was about 2 months old, she was always sick. Initially, the first-time parents chalked up the problem to their daughter being in day care. They kept taking her to the pediatrician, but she never seemed to improve despite medications and antibiotics. By the time she was diagnosed at 9 months old, Alex was critically ill. She wound up at Duke University Medical Center, where she had a bone marrow transplant. Her mother was her donor.

“They told us she would not make it through the night. It was just gut-wrenching,” said Sawyer, who said the bill for Alex’s care was more than $1 million. “Little by little, she made it through and started to improve.”

Since their transplants, Alex and Austin, who also had a transplant with marrow donated by Sawyer, show no immunological problems associated with SCID. They return annually to Duke for immune studies.

Sawyer hopes to prevent other children from experiencing what Alex did. Adding SCID to the list of diseases newborns are screened for in Delaware would make that possible, she said, even if it means only one or two children would be diagnosed.

Nationwide, state newborn screening programs test about 4 million babies each year for genetic and metabolic disorders. These are conditions that wouldn’t otherwise be apparent in a newborn. About 12,000 babies are screened annually in Delaware.

In January, a federal advisory committee recommended the addition of SCID to the uniform newborn screening panel. Six months later, the American Academy of Pediatrics made a similar recommendation.

In order to add SCID to the newborn screening panel in Delaware, the state would have to pass legislation mandating the test, said Leah Jones, chief of the maternal and child health bureau with the Delaware Division of Public Health. Delaware currently tests for more than 30 disorders, using a sample of blood taken from a heel stick on the baby.

DPH supports adding SCID testing to the panel, and is investigating the cost of adding equipment and staffing for the additional laboratory testing, Jones said.

Sawyer knows the impact of early diagnosis, both in terms of intervention and medical cost. She hopes to convince state health officials as well.

“It’s something that makes such a difference,” Sawyer said. “I see my kids and I know that.”

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MSD’s Vaccine, ROTATEQ®, Reduced Severe Rotavirus Gastroenteritis in Infants in Asia and Africa

August 6, 2010

MSD’s Vaccine, ROTATEQ®, Reduced Severe Rotavirus Gastroenteritis in Infants in Asia and Africa

2010-08-06 01:23:02 –

In a study published today in The Lancet, ROTATEQ® (rotavirus vaccine, live, oral, pentavalent), MSD’s rotavirus vaccine, reduced the number of cases of severe rotavirus gastroenteritis by nearly half (48 percent) in infants evaluated in developing countries in Asia (Bangladesh and Vietnam) and by 39 percent in infants evaluated in developing countries in Africa (Ghana, Kenya, and Mali) through nearly two years of follow-up. This is the first study demonstrating efficacy for any rotavirus vaccine in developing countries in Asia and the first study to show efficacy for ROTATEQ in developing countries of Asia and Africa.

“We are encouraged by the data,” said study investigator Dr. Khalequz Zaman, International Centre for Diarrhoeal Disease Research, Dhaka, Bangladesh. “In this study, ROTATEQ prevented severe rotavirus gastroenteritis in infants in regions in Africa and Asia where the disease burden is quite high and rotavirus vaccines are needed the most.”

ROTATEQ is an oral pentavalent vaccine indicated for the prevention of rotavirus gastroenteritis in infants and children caused by the serotypes G1, G2, G3, G4, and G-serotypes that contain P1A[8] (e.g., G9). ROTATEQ may be administered as early as 6 weeks of age. The first dose should be administered at 6 to 12 weeks of age, with the subsequent doses administered at a minimum interval of four weeks between each dose.

ROTATEQ should not be administered to infants with a demonstrated history of hypersensitivity to any component of the vaccine. Infants with Severe Combined Immunodeficiency Disease (SCID) should not receive ROTATEQ. Cases of gastroenteritis associated with vaccine virus have been reported post-marketing in infants with SCID.

Rotavirus gastroenteritis is the leading cause of diarrheal disease mortality among children under 5 years of age, resulting in an estimated 527,000 deaths per year globally, mostly in Asia and Africa. It is highly prevalent and highly contagious, infecting nearly all children by age 5, often more than once in both developed and developing countries.

“Given the impact of rotavirus gastroenteritis in the developing world, reduction in severe rotavirus disease represents a critically important public health goal,” said Mark Feinberg, M.D., Ph.D., vice president, Medical Affairs and Policy, Merck Vaccines. “Merck is committed to advancing global health by improving access to ROTATEQ in areas most affected by the severe consequences of rotavirus disease.”

In 2009, the World Health Organization’s (WHO) Strategic Advisory Group of Experts recommended to expand rotavirus vaccine use to all regions of the world. The efficacy data for ROTATEQ in Asia and Africa, along with effectiveness data in Nicaragua, helped inform the WHO’s recommendation for expansion of the rotavirus vaccine to all regions. This recommendation led to global WHO-pre-qualification of ROTATEQ, accelerating the availability of vaccines in the developing world.

About the Study

More than 7,500 infants between 4 and 12 weeks of age from five developing countries in Asia (Bangladesh and Vietnam) and Africa (Ghana, Kenya, and Mali) were enrolled in the two-year randomized, double-blind, placebo-controlled clinical trial. The trial was designed to evaluate the efficacy of three doses of ROTATEQ (n=3,751) against severe rotavirus gastroenteritis versus placebo (n=3,753) in low income countries with high incidence of diarrheal disease mortality.

The study was coordinated through a partnership between Merck and the Rotavirus Vaccine Program (RVP), a collaboration between PATH, an international non-profit organization, WHO and the U.S. Centers for Disease Control and Prevention. Clinical trial investigators in Asia and Africa partnered with Merck and RVP to conduct the trial. The Merck and RVP partnership was initiated by the GAVI Alliance in an effort to introduce rotavirus vaccine in the developing world. The study was funded by RVP with a grant from the GAVI Alliance and was co-sponsored by Merck.

In this study, infants received ROTATEQ or placebo at approximately 6, 10, and 14 weeks of age with routine infant vaccines. Infants between 4 and 12 weeks of age who were free of symptoms of active gastrointestinal disease and could be adequately followed for safety were eligible. The primary endpoint was rotavirus gastroenteritis, irrespective of serotype, occurring 14 days or more after the third dose of ROTATEQ or placebo until the end of the study. Gastroenteritis was defined as three or more watery or looser than normal stools within a 24 hour period or forceful vomiting. Severity of rotavirus gastroenteritis was defined by a 20 point clinical scoring system (modified Vesikari system), with those cases with a score of 11 or more being classified as severe.

In Asia, 1,018 infants were randomly assigned to receive ROTATEQ and 1,018 infants received placebo; median follow-up time in both groups, from 14 days after the third dose of vaccine or placebo until final disposition, was 498 days. Over the entire study period, there were 38 cases of severe rotavirus gastroenteritis in the vaccine group, compared with 71 cases reported in the placebo group, resulting in a vaccine efficacy of 48.3 percent (95 percent CI 22.3, 66.1 percent) at sites in Asia. Through nearly two years of follow up, vaccine efficacy was 42.7 percent (95 percent CI 10.4, 63.9 percent) in Bangladesh and 63.9 percent (95 percent CI 7.6, 90.9 percent) in Vietnam.

In Africa, 2,733 infants were randomly assigned to receive ROTATEQ and 2,735 infants received placebo; median follow-up time in both groups was 527 days starting 14 days after the third dose of vaccine or placebo.
Over the entire study period, there were 79 cases of severe rotavirus gastroenteritis reported in the vaccine group, compared with the 129 cases reported in the placebo group, resulting in a vaccine efficacy of 39.3 percent (95 percent CI 19.1, 54.7 percent) at sites in Africa.

Efficacy was 55.5 percent (95 percent CI 28.0, 73.1 percent) in Ghana, 63.9 percent (95 percent CI < 0, 89.8 percent) in Kenya, and 17.6 percent (95 percent CI < 0, 45.0 percent) in Mali through nearly two years of follow up.

In post-hoc analyses, overall efficacy against severe rotavirus gastroenteritis in Asian infants was 51 percent (95 percent CI 12.8, 73.3 percent) in the first year of life and 45.5 percent (95 percent CI 1.2, 70.7 percent) in the second year of life. Efficacy in Bangladesh was 45.7 percent (95 percent CI < 0, 71.8 percent) in the first year of life and 39.3 percent (95 percent CI < 0, 69.7 percent) in the second year of life. Efficacy in Vietnam was 72.3 percent (95 percent CI < 0, 97.2 percent) in the first year of life and 64.6 percent (95 percent CI < 0, 93.9 percent) in the second year of life.

Overall efficacy against severe rotavirus gastroenteritis in African infants was 64.2 percent (95 percent CI 40.2, 79.4 percent) in the first year of life and 19.6 percent (95 percent CI < 0, 44.4 percent) in the second year of life. Efficacy in Ghana was 65.0 percent (95 percent CI 35.5, 81.9 percent) in the first year of life and 29.4 percent (95 percent CI < 0, 70.7 percent) in the second year of life. Efficacy in Kenya was 83.4 percent (95 percent CI 25.5, 98.2 percent) in the first year of life and less than 0 percent (95 percent CI < 0, 82.3 percent) in the second year of life. Efficacy in Mali was 1.0 percent (95 percent CI < 0, 81.6 percent) in the first year of life and 19.2 percent (95 percent CI < 0, 47.3 percent) in the second year of life. The surveillance system in the study protocol was designed to detect participants presenting to healthcare facilities. However, in Mali, for cultural reasons, many cases of severe diarrhea were preferentially taken to traditional healers during the first year of the study. Strengthening of the surveillance system after the first year of the study resulted in a 12-fold increase in detection of severe rotavirus gastroenteritis in Mali in the second year of life, and a higher point estimate of efficacy in the second year than in the first year. The proportion of subjects with reported serious adverse events (SAEs) was comparable between the vaccine and placebo groups in Asia (2.5 percent in ROTATEQ group, 2.0 percent in placebo group) and Africa (1.5 percent in ROTATEQ group, 1.7 percent in placebo group). The most frequent serious adverse event was pneumonia in Asia (1.2 percent in ROTATEQ group, 1.5 percent in placebo group) and gastroenteritis in Africa (0.6 percent in either ROTATEQ or placebo group). One confirmed case of intussusception (in Vietnam), in the placebo group (at Day 97 post-Dose 3), was reported during the clinical trial. “This study provided insights into how vaccine immune responses and efficacy varied in developing countries,” said Max Ciarlet, Ph.D., associate director, Merck Research Laboratories. “Several factors may adversely affect immune response and efficacy of vaccines in these regions, including poor nutrition, the presence of other intestinal bacteria and viruses, and co-infections in the digestive system.” Select Safety Information about ROTATEQ No safety or efficacy data are available from clinical trials regarding the administration of ROTATEQ to immunocompromised patients such as individuals with malignancies or who are otherwise immunocompromised; individuals receiving immunosuppressive therapy; individuals infected with HIV; or individuals who received a blood transfusion or blood products, including immunoglobulins within 42 days. More than 71,000 infants were evaluated in three Phase 3, placebo-controlled clinical trials. Parents/guardians were contacted on days 7, 14, and 42 after each dose regarding intussusception and any other serious adverse events. In the Rotavirus Efficacy and Safety Trial (REST) of more than 69,000 infants, ROTATEQ did not increase the risk of intussusception relative to placebo. There were no confirmed cases of intussesception during the 42-day period after dose one and no clustering of cases among vaccine recipients at any time period after any dose. Four cases of intussusception were reported in children who had received placebo following the one-year safety follow-up period. In a subset of more than 11,000 infants in these trials, the presence of adverse events was reported for 42 days after each dose. The most commonly reported adverse experiences with ROTATEQ (frequency >1/10) include upper respiratory infection, diarrhea, vomiting, pyrexia, otitis media, irritability, and cough.

The following adverse experiences have been spontaneously reported during post-approval use of ROTATEQ: urticaria and gastroenteritis with vaccine viral shedding in infants with SCID. Because these experiences were reported voluntarily from a population of uncertain size, it is not possible to reliably estimate their frequency or to establish a causal relationship to vaccine exposure.

In a prospective post-marketing observational study conducted using a large medical claims database, the risks of intussusception or Kawasaki disease resulting in emergency department visits or hospitalizations during the 30 days following any dose of vaccine were analyzed among 85,150 infants receiving one or more doses of ROTATEQ.

During the 0-30 day follow-up period after vaccination, there were no statistically significant differences in the rates of intussusception or Kawasaki disease compared with the expected background rates. In addition, there was no statistically significant increased risk of these adverse events during the 0-30 day follow-up period when comparing the 17,433 person-years of follow-up among infants receiving ROTATEQ (n equals 85,150) with the 12,339 person-years of follow up among a concurrent control group of infants who received DTaP, but not ROTATEQ (n equals 62,617).

There were six confirmed cases of intussusception among infants vaccinated with ROTATEQ compared with five among the concurrent controls vaccinated with DTaP (relative risk equals 0.8, 95 percent CI 0.22-3.52). There was one chart-confirmed case of Kawasaki disease identified among infants vaccinated with ROTATEQ and one chart-confirmed case of Kawasaki disease among concurrent DTaP controls (relative risk equals 0.7, 95 percent CI 0.01-55.56). In the general safety analyses, the Safety Monitoring Committee did not identify any specific safety concerns.

ROTATEQ® is a registered trademark of Merck & Co. Inc., Whitehouse Station, N.J., USA

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WI Public Health Lab Identifies First SCID Baby Using New TREC Assay

June 16, 2010

Michelle M. Forman, Senior Media Specialist
For Immediate Release
June 16, 2010
WI Public Health Lab Identifies First SCID Baby Using New TREC Assay
Silver Spring, MD–The Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison has identified the first baby with classical Severe Combine Immune Deficiency (SCID) as part of their newborn screening program. SCID babies, if undiagnosed, eventually develop severe life-threatening infections with a 100% mortality rate, usually within the first year of life. With prompt diagnosis and treatment before the infections, SCID is curable when treated by hematopoietic stem cell transplantation (HSCT). This is the first and only condition on the newborn screening panel of 30 genetic diseases that is curable if diagnosed very early in an infant’s life. SCID refers to a collection of inherited immunodeficiencies characterized by profound defects of both T cell and B cell arms of the immune system.
According to Dr. Christine M. Seroogy, associate professor in the Department of Pediatrics at the University of Wisconsin, “The ability to cure validates why we do this test. It is working the way it was designed to work.”
In an extraordinary collaborative effort in 2007, Dr. Mei Baker, science director of the Wisconsin State Laboratory of Hygiene’s Newborn Screening Program, worked closely with Drs. John Routes and William Grossman, both with the Children’s Hospital of Wisconsin and Medical College of Wisconsin, to develop a molecular assay that detects the absence of TRECs (T cell Receptor Excision Circles) using dried bloodspots and determined that it was the most effective way to diagnose SCID. TRECs are small pieces of DNA generated in T cells as they mature.
“This is the first time a molecular assay is being used as a primary screening test in newborn screening,” says Dr. Baker, who is also an assistant professor of pediatrics at the University of Wisconsin. “The SCID test is a perfect example of applying advanced molecular knowledge and technology in public health newborn screening programs.”
Dr. John M. Routes, medical director, section of allergy and immunology, Children’s Hospital of Wisconsin feels that newborn screening for SCID has already been a tremendous success. “In 2007 we determined that it was feasible to conduct high throughput TREC assays for SCID screening within a public health laboratory and now it
is happening and has already saved a baby’s life.” Dr. Routes was responsible for securing initial funding for the project, a $250,000 grant from the Jeffrey Modell Foundation and a $250,000 grant from the Children’s Hospital of Wisconsin.
Since then, a grant from the Centers for Disease Control and Prevention (CDC) has allowed the program to continue. Part of the grant from CDC was to be used to train laboratories in other states to perform the TREC assay. The Wisconsin State Laboratory of Hygiene as well as the New England Newborn Screening Program in Massachusetts have been in contact with at least 10 other state laboratories interested in adding the TREC assay and SCID to their screening panel. Wisconsin will begin working with Louisiana to initiate screening for SCID sometimes after July 1, 2010. Currently, Wisconsin and Massachusetts are the only two states that screen for SCID.
“State public health laboratories and newborn screening lead the way in identifying infants with life threatening conditions. This has always been part of our public health mission, and we believe that there will be additional opportunities to expand newborn screening as a result of the work here in Wisconsin,” says Dr. Charles D. Brokopp, Director of the Wisconsin State Laboratory of Hygiene.
According to preliminary data from the Children’s Hospital of Wisconsin, a single baby with a late SCID diagnosis costs an average of $2.2 million. Medical care for one baby with an early SCID diagnosis costs $250,000. Testing the 70,000 babies born annually in Wisconsin for SCID as part of the routine newborn screening panel costs approximately $350,000 ($4-5 per test). According to Dr. Brokopp, “The savings from one positive diagnosis pays for testing of all babies for the entire year.”
The Wisconsin State Laboratory of Hygiene is a member of the Association of Public Health Laboratories (APHL). APHL’s Newborn Screening and Genetics Program works to strengthen the role of public health laboratories in genetic testing and designs strategies to address changes in the newborn screening testing field. The association collaborates with the Centers for Disease Control and Prevention to provide input on quality control and proficiency testing issues relevant to newborn screening laboratories across the globe.
The Association of Public Health Laboratories is a national non-profit located in Silver Spring, MD, that is dedicated to working with members to strengthen governmental laboratories with a public health mandate. By promoting effective programs and public policy, APHL strives to provide public health laboratories with the resources and infrastructure needed to protect the health of US residents and to prevent and control disease globally.

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Secretary of Health and Human Services Announces Addition of SCID to National Newborn Screening Standards

May 25, 2010

Secretary of Health and Human Services Announces Addition of SCID to National Newborn Screening Standards

TOWSON, Md., May 25 /PRNewswire/ — On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced the addition of Severe Combined Immunodeficiency (SCID) — commonly known as bubble boy disease — to the core panel of 29 genetic disorders — as part of her recommendation to adopt the national Recommended Uniform Screening Panel.  The Secretary made her announcement in a letter to Dr. Rodney Howell, Chair of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). SCID is the first nominated condition to be added to the core panel of disorders.

SCID is a primary immunodeficiency disease.  Affected infants lack T lymphocytes, the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi.  Babies with SCID appear healthy at birth, but without early treatment, most often by bone marrow transplant from a healthy donor, these infants cannot survive.

The Immune Deficiency Foundation (IDF), the national patient organization for persons with primary immunodeficiency diseases, applauds the action by Secretary Sebelius for including SCID in the new national standards.  “The addition of SCID to the national newborn screening standards is a momentous step forward for the primary immunodeficiency community,” said Marcia Boyle, President & Founder of IDF.  “The IDF has strongly supported and worked tirelessly toward this goal for years.  It is imperative that we sustain this momentum by establishing newborn screening programs in all 50 states.”

“Although this recommendation has been in development for two years,” said Dr. Amy Brower, parent, researcher and former SACHDNC committee member, “it may take several more years to implement screening in all 50 states and US territories.  We must work to quickly implement the widespread adoption of testing and treatment in all of the states.”

“As the parent of a child who was diagnosed with SCID only after he became critically ill,” said Barb Ballard, a member of the IDF Board of Trustees, “I am immensely pleased with the action taken by Secretary Sebelius.”

“Our goal is to have Newborn Screening for SCID passed in all 50 states,” said Heather Smith, co-founder of SCID Angels for Life, who lost her six-month-old son, Brandon, to this devastating disease.

For more information, please contact IDF at 800-296-4433, or  Or visit the IDF website at

SOURCE Immune Deficiency Foundation

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