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.”
linkback url: http://www.wausaudailyherald.com/article/20091008/WDH0101/910080625/1981/WDHopinion

AAAAI: Rotavirus Vaccine May Cause Infections in SCID Kids

AAAAI: Rotavirus Vaccine May Cause Infections in SCID Kids

By John Gever, Senior Editor, MedPage Today

Published: March 18, 2009

Reviewed by Dori F. Zaleznik, MD; Associate Clinical Professor of Medicine, Harvard Medical School, Boston.

WASHINGTON, March 17 — The rotavirus vaccine recommended for all infants can cause infection in babies with severe immunodeficiencies, a researcher said here.

Two infants receiving the first two of three scheduled doses of the live, attenuated-virus rotavirus vaccine (RotaTeq) developed infections traced to the product, according to Niraj C. Patel, M.D., of Baylor College of Medicine in Houston.

After the babies were hospitalized with diarrhea and other symptoms consistent with rotavirus infection, it was discovered that they had severe combined immunodeficiency syndrome (SCID).

These are the first reported cases of infection caused by the rotavirus vaccine, which was approved in 2006, Dr. Patel said in a late-breaking research session here at the American Academy of Allergy, Asthma, and Immunology meeting.

Dr. Patel said molecular analyses showed that the vaccine caused the infections. All the attenuated virus strains used in the vaccine contain two bovine genes that aren’t found in wild-type human rotavirus. Both were present in the rotavirus isolates obtained from the babies.

The CDC recommends that the vaccine be given to all infants at two, four, and six months of age. Both infants who developed infections received the first two doses on schedule.

One case involved a girl hospitalized for pneumonia and respiratory infection from two weeks to two months of age; SCID was not immediately recognized. About a month after the second dose, she was rehospitalized with diarrhea, acidosis, and failure to thrive.

The other case was a boy who developed diarrhea, dehydration, and shock six days after the second vaccination.

Dr. Patel noted that other live-pathogen vaccines — poliovirus, BCG, measles, and varicella — have also been found to cause infection in children with SCID.

The condition occurs in about one in 500,000 to 1 million births. The Immune Deficiency Foundation estimates that the median age at diagnosis is about 24 weeks — well after infant vaccinations are supposed to begin.

There is currently no standard, reliable screening test for SCID, Dr. Patel said. It is usually diagnosed when infants present with repeated and/or unusual infections. Lymphopenia is a warning sign, but “it is not very specific,” he said.

The molecular analysis of the infants’ viral isolates indicated that the vaccine strains underwent mutation to cause disease.

That may explain why the infections did not develop immediately after the first dose in either case. “[The virus] perhaps took some time to mutate before causing disease,” he said.

Session moderator A. Wesley Burks, M.D., of Duke University in Durham, N.C., commented that the clinical implications are still uncertain.

“We [still] have to understand what the right thing to do is,” he said.

“Immune deficiency is not common, but at the same time it happens. Children [with it] that get a live viral vaccine, they’re going to have trouble with it.”

Both he and Dr. Patel suggested that a reliable screening test for infant immunodeficiencies is needed to avert future infections associated with live-virus immunizations.

No external funding for the study was reported.

Dr. Patel reported no potential conflicts of interest. Dr. Burks reported relationships with Acto-GeniX NV, Allertein, Dannon Co. Probiotics, EpiPen/Dey L.P., Genentech, Novartis, Nutricia, McNeil Nutritionals, Mead Johnson, MastCell Inc., and Gerber.

Primary source: American Academy of Allergy, Asthma & Immunology
Source reference:
Patel N, et al “Vaccine-acquired rotavirus infection in two infants with severe combined immunodeficiency” AAAAI 2009; Abstract L29.

linkback url: http://www.medpagetoday.com/Pediatrics/Vaccines/13314

Universal newborn SCID screening has potential to save lives, money

Universal newborn SCID screening has potential to save lives, money

Existing blood tests may help unlock some of the mysteries surrounding infant immunodeficiency syndromes, according to a speaker at the American Academy of Allergy and Immunology Annual Meeting held in Washington this week.

Performing inexpensive quantitative polymerase chain reaction assays may help avert expensive and ineffective later stage treatments for children with severe combined immunodeficiency, said Jennifer Puck, MD, professor of pediatrics at the University of California, San Francisco.

Infants with severe combined immunodeficiency (SCID) appear healthy at birth, but have few T cells, leaving them susceptible to recurrent and opportunistic infections. Health officials estimate SCID affects about one in 50,000 infants, but the exact number is unknown due to a of lack specific diagnostic tools and an incomplete understanding of the genetic interplay that results in symptoms. Currently, about 80% of infants with SCID go unrecognized until they develop infectious complications due to their immune deficiency, Puck said.

“The best survival and outcomes are achieved if treatment, such as bone marrow transplantation, can be done before infections occur,” she said.

Puck has developed a method for identifying presymptomatic children with SCID using the dried blood spots already obtained from all babies for newborn screening. DNA is extracted and PCR used to determine the number of T-cell receptor excision circles (TRECs) vs. a copy number of a control genomic DNA segment. Patients who lack TRECs may have SCID or other disorders with very low T cells. Pilot screening of newborns is currently ongoing in Wisconsin, Massachusetts and Navajo Indian populations, where SCID incidence is high. The tests cost between $6 and $10 per sample to perform.

The Medical College of Wisconsin recently instituted universal newborn screening, and researchers there noted among 46 children in whom SCID was diagnosed before 3.5 months of age, 96% survived 26 years post transplantation, compared with 66% of 116 children who did not receive an early diagnosis.

“Identifying infants who have low TRECs with screening will improve SCID outcomes, establish SCID incidence, and make identification of further immune defects possible,” Puck said.

The ongoing pilot trials will soon determine the clinical utility of such screening programs. – by Nicole Blazek

For more information:

• Puck J. #3516. American Academy of Allergy, Asthma & Immunology Annual Meeting; March 13-17, 2009; Washington.
• Routes J. #248. American Academy of Allergy, Asthma & Immunology Annual Meeting; March 13-17, 2009; Washington.

linkback url: http://www.pediatricsupersite.com/view.aspx?rid=37902

Boy in bubble’ story not forgotten 25 years after death

By TODD ACKERMAN Copyright 2009 Houston Chronicle

Feb. 21, 2009, 9:07PM

It was a story that touched the world, the cute little boy who lived virtually his whole life inside a series of sterile plastic bubbles, waiting for a cure for his fatal immune disease that, tragically, never came.

Known as “the boy in the bubble,” or just David, he was the Texas Medical Center’s most famous patient from the early ’70s to the mid-’80s. As a captivated public watched, he grew up isolated from both germs and human touch before finally dying, at age 12, after the failure of a then experimental bone-marrow transplant.

The case was truly unique: Never again would a child live a life in such a cocoon. “It’s such a great human interest story, how so many people came to care about him,” says James Jones, a former University of Houston historian and author of a forthcoming book on the subject. “Most medical stories have a flash-in-the pan quality, but David’s story didn’t go away. For 12 years, thanks to news coverage around his birthday, he captured hearts worldwide.”

Today, 25 years to the day since his death, David Phillip Vetter remains one of Houston’s signature stories, his mark still felt in a legacy of vexing ethical questions and medical advances.

The ethical questions involve David’s role as a sort of living experiment. While keeping him alive was largely seen as a technological triumph and a valiant effort that gave him and his family 12 years together, some bioethicists argue it was a classic example of doctors promising more than medicine could deliver and creating an unacceptable quality of life. That quality took a toll on David’s emotional well-being.

David’s medical legacy is less open to debate. Doctors say he contributed enormously to a better understanding of clinical immunology, an understanding that has resulted in better treatment for many diseases involving the immune system.

At a time when HIV/AIDS was coming onto the scene, David also put diseases of the immune system on people’s radar screen.

“A lot of kids are alive today because David was here,” David J. Vetter said last week in a rare interview about his son. “Perhaps it was meant to be — that he was the little guy through whom doctors and the world were meant to learn about the immune system.”

Vetter said it was “kind of unbelievable it happened to us, plain, ordinary people.” Marveling at his family’s ability to cope, he said it was like “the whole world came crashing down” when David was diagnosed.

David had severe combined immunodeficiency (SCID), an inherited condition in which the patient lacks the white blood cells that fight infection. It afflicts 40 to 50 babies born every year in the United States and is fatal within a year or two without treatment.

In 1971, the year David was born, the only hope was a bone marrow transplant from a donor whose blood matched perfectly. The Vetters hoped their daughter would provide the match.

Sibling died in infancy

Because the Vetters knew there was a chance David would have the immune condition — a first son had died of SCID in infancy — he was delivered by cesarean section in a sterile operating room at Texas Children’s Hospital. Immediately, he was whisked into a sealed bubble intended as a stopgap measure until a match could be found.

“The Vetters were the only parents who asked if we could protect their boy,” said Dr. Mary Ann South, a pediatric immunologist and one of David’s team of doctors. “We’d treated seven or eight children with the disease and all of them died; nothing worked, and they never lived long enough for us to learn about the disease. ”

But David’s sister’s blood didn’t match. The wait for a match, or any kind of cure, dragged on.

The boy with large, dark eyes and a shock of dark hair loved Star Wars films and the Houston Oilers. He longed to drink a Coke and walk barefoot on the grass. He was a straight-A student taught by telephone.

The protective bubbles at the hospital and his parents’ home became larger and larger as he grew. Their walls were fitted with heavy-duty rubber gloves through which doctors cared for him; food was sterilized and slipped in through air locks. NASA designed a spacesuit to give him freedom to walk outside, but David didn’t take to it.

In late 1983, as David began losing hope he would ever leave the bubble, doctors told the Vetters of a promising new bone marrow transplant technique using less than perfect matches.

The transplant seemed to work well initially. But in January 1984, David began showing signs of illness and soon was removed from the bubble for treatment. When he died 15 days later of a form of lymph cancer caused by an undetected Epstein Barr virus in the transplant, it made headlines around the world.

“People often ask what’s the measure of someone’s life, but very few people stood as tall as David,” said Dr. William Shearer, a Baylor College of Medicine pediatric immunologist and David’s doctor in later years. “More than any scientist, he taught us by his life.”

Among the lessons were one of the first proofs that viruses can cause cancer. He also was the source of DNA that helped identify the gene that causes immune deficiencies, a discovery that led to a test for the disease in newborns, when it is most effectively treated.

Debate continues

A recent study found that bone marrow transplants, even imperfectly matched ones, work 90 percent of the time if performed within three months of birth.

Still, the debate about the ethics of David’s treatment continues. Bruce Jennings, director of the Center for Humans and Nature, said it shows the need to be careful about the faith placed in technology and the temptation to treat children as guinea pigs. But University of Texas Medical Branch at Galveston ethicist William Winslade said harsh criticism isn’t appropriate “at a time when people were doing everything they could to save lives.”

If anything seems certain, it is that David will not easily be forgotten. He has been celebrated in dramatic works, music and sculpture.

A center at Texas Children’s and a school and street in The Woodlands bear his name. And as historian Jones notes, the term bubble has become an enduring part of the language, a parent’s shorthand for the thing they wish they could put their children in to keep them out of harm’s way.

Still, David’s best epitaph may be the one on his gravestone in Conroe.

“He never touched the world,” says the epitaph. “But the world was touched by him.”

todd.ackerman@chron.com

linkback url http://www.chron.com/disp/story.mpl/front/6274796.html

Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

The Immune Tolerance Institute, Sequenom and the University of California, San Francisco to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns
Tuesday, January 13, 2009; Posted: 04:05 PM

SAN FRANCISCO & SAN DIEGO, Jan 13, 2009 (BUSINESS WIRE) — SQNM | Quote | Chart | News | PowerRating — The Immune Tolerance Institute, Inc. (ITI), and Sequenom, Inc. (NASDAQ: SQNM), today announced a collaboration to develop an advanced newborn screening test for severe combined immunodeficiency (SCID) based on the pioneering work of Jennifer Puck, MD, of the University of California, San Francisco (UCSF). A successful feasibility study was recently completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY(R) platform developed by Sequenom.

“This collaboration goes to the very heart of ITI’s mission by bringing together the best of industry and academia in order to solve a complex medical problem,” said Dr. Louis Matis, ITI’s President and CEO. “Severe combined immunodeficiency is curable by bone marrow transplantation if it is detected early. The goal of our collaboration is to make newborn screening for this rare but deadly disease a reality and alleviate the terrible suffering for these infants and their families.”

“We are very pleased to collaborate with the Immune Tolerance Institute, UCSF and Dr. Puck to significantly improve outcomes for newborns afflicted with devastating SCID,” said Harry Stylli, Ph.D., President and CEO of Sequenom. “At Sequenom we are committed to developing cutting-edge diagnostic tools that will enable physicians to accurately detect serious genetic disorders as early as possible. This application is reflective of the broad applicability of our MassARRAY system and is in line with our goal of increasing Sequenom’s reach in the field of molecular diagnostics.”

“Although universal newborn screening for metabolic conditions is well established, screening for immune disorders is new,” said Dr. Puck, a Professor in the Department of Pediatrics and the Institute for Human Genetics at UCSF, and Program Director of the Pediatric Clinical Research Center within the UCSF Clinical and Translational Science Institute. “Immunologists and public health professionals have recognized the value of SCID screening, but a high-throughput, sensitive, specific and cost-effective test is needed. This collaboration between UCSF, ITI and Sequenom is an ideal way to translate my laboratory research on T-cell receptor excision circles into the clinic.”

Sequenom’s proprietary MassARRAY system is a high-performance DNA analysis platform that efficiently and precisely measures the amount of genetic target material and variations therein. The system is able to deliver reliable and specific data from complex biological samples and from genetic target material that is only available in trace amounts.

For further information on the SCID Screening Project at ITI, please visit www.iti-immune.org or contact ITI at 650-328-8595.

About Severe Combined Immunodeficiency Disease

Severe combined immunodeficiency (SCID) is a spectrum of genetic disorders leading to profound immune system dysfunction. Without intervention, infants with SCID die of infections early in life. SCID infants treated with bone marrow transplantation before experiencing infections have a better than 95% chance of full recovery, whereas those treated after their health has been compromised by severe infections, have much greater morbidity and mortality. In the absence of screening for SCID, most cases are not diagnosed early; in fact, the exact incidence of the disease is unknown since death often occurs without a definitive diagnosis having been made.

About ITI

The Immune Tolerance Institute (ITI) is a 501(c)(3) non-profit organization founded in partnership with the University of California, San Francisco (UCSF) to fill critical unmet needs for translating fundamental scientific discoveries into new diagnostic tools and therapies for the broad range of diseases related to the human immune system, including autoimmune diseases, allergy, asthma, cancer, and cardiovascular and infectious diseases. ITI is a milestone and value-driven company uniquely positioned at the intersection of academia and biopharma that offers a comprehensive constellation of scientific and bio-pharmaceutical industry expertise and services to convert knowledge-based discoveries into market-accessible products for immune system related conditions. At the company’s Center for Critical Path Immunology, established as part of a recently announced collaboration with Beckman Coulter, Inc., multiple technology platforms are being deployed in integrated fashion to perform comprehensive cellular, molecular and immunological assays on specimens obtained from patients during clinical trials of emerging immunotherapeutics. The mechanistic data that are generated from these assays will be analyzed in parallel with clinical safety and efficacy data using cutting-edge bioinformatic approaches that leverage new insights at the nexus of emerging life science and information technologies. This approach to critical path science is designed to shorten development times, reduce both costs and failure rates in drug development and guide better informed patient selection for targeted therapies. The Institute is led by a management team with roots in both biomedical research and the biotechnology industry, and a board of directors including leaders in translational medicine. For more information, visit http://www.iti-immune.org.

About Sequenom

Sequenom is committed to providing the best genetic analysis products that translate the results of genome science into solutions for noninvasive prenatal and genetic diagnostics, biomedical research, translational research and molecular medicine applications. The Company’s proprietary MassARRAY system is a high-performance (in speed, accuracy and cost efficiency) nucleic acid analysis platform that quantitatively and precisely measures genetic target material and variations. The Company has exclusively licensed intellectual property rights for the development and commercialization of noninvasive prenatal genetic tests for use with the MassARRAY system and other platforms. For more information on Sequenom, please visit the company’s Web site at www.sequenom.com.

Sequenom(R) and MassARRAY(R) are trademarks of Sequenom, Inc.

About UCSF

The University of California, San Francisco, UCSF, is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. (www.ucsf.edu)

Safe harbor

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expectations of, intentions of, goals of, and future impact of the collaboration to develop an advanced newborn screening test for SCID, and Sequenom’s goal of increasing its reach in molecular diagnostics, are forward-looking statements within the meaning of the “safe harbor” provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with new technology and product development and commercialization particularly for new technologies such as molecular diagnostics, reliance upon the collaborative efforts of other parties such as ITI and UCSF, research and development progress, competition, intellectual property protection, government regulation, obtaining or maintaining regulatory approvals, and other risks detailed from time to time in the Company’s SEC (U.S. Securities and Exchange Commission) filings, including the Company’s Annual Report on Form 10-K for the year ended December 31, 2007 and other documents subsequently filed with or furnished to the SEC. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

SOURCE: Sequenom, Inc.

Immune Tolerance Institute, Inc. Louis A. Matis, M.D. 203-292-6940 lmatis@iti-immune.org or Rx Communications Group Eric Goldman (media) 917-322-2563 egoldman@rxir.com or Sequenom, Inc. Paul W. Hawran, Chief Financial Officer 858-202-9000 or Investor Relations Contact Lippert/Heilshorn & Associates Jody Cain / Kevin McCabe, 310-691-7100 or Media Relations Pure Communications Sheryl Seapy, 949-608-0841

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Sequenom joins with Immune Tolerance Institute to develop advanced newborn screening test

Sequenom joins with Immune Tolerance Institute to develop advanced newborn screening test – quick facts
1/13/2009 4:26 PM ET

(RTTNews) – Sequenom Inc. (SQNM: News ) said that it has entered into an collaboration with the Immune Tolerance Institute Inc. to develop an advanced newborn screening test for severe combined immunodeficiency based on the pioneering work of Jennifer Puck of the University of California, San Francisco.

A successful feasibility study was recently completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY platform developed by Sequenom.

Sequenom noted that its proprietary MassARRAY system is a DNA analysis platform that measures the amount of genetic target material and variations therein.

by RTT Staff Writer

For comments and feedback: contact editorial@rttnews.com

linkback url: http://www.rttnews.com/ArticleView.aspx?Id=823641&SMap=1

Video

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID) by Quantitating T Cell Receptor Excision Circles (TRECs)

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

Children’s Hospital Doctor Discusses SCID/Bubble Boy Disease

Katie DeLong

John Routes from Children’s Hospital of Wisconsin appeared on Live at 12:30 to discuss Severe Combined Immune Deficiency (SCID), which is sometimes known as Bubble Boy Disease.SCID is a genetic disorder that is fatal without early diagnosis and treatment.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.

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.

For more information, visit http://www.chw.org/pip.

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