Boy in bubble’ lands in Toronto

February 27, 2007

Boy in bubble’ lands in Toronto

Emma Poole, Calgary Herald
Published: Tuesday, February 27, 2007

Following a four-hour flight to Ontario, Evan Pogubila — Calgary’s “boy in the bubble” — has settled into his isolation room at Toronto’s Hospital for Sick Children.

The nine-month-old boy, who suffers from severe combined immunodeficiency disease, was medevaced 3,400 kilometres east early Monday in preparation for a special bone marrow transplant.

“It went really, really well. They were really well organized,” Evan’s mom, Melanie Pogubila, said after arriving in Toronto.

Evan was transferred on a private air ambulance in a sealed plastic enclosure to keep out germs.

For the first month in Toronto, Evan will undergo chemotherapy to ready his system for the transplant. Doctors have found a perfect bone marrow match for Evan. Neither Melanie nor her husband Frank were matches for the boy.

Since being diagnosed with the rare illness in November, Evan has remained inside an isolation room at Alberta Children’s Hospital.

Any contact with the public — including his twin sister, Jordan — could compromise what little of his immune system is left.

The transplant is Evan’s only chance of living a normal life outside of a hospital. Toronto is the only place in Canada where the procedure is done.

Melanie’s parents have also moved to Toronto.

The family, who plan to remain in the city for up to a year, has secured a two-bedroom apartment near the hospital.

Frank Pogubila will fly back and forth from Calgary.

While the Alberta government will pay for Evan’s medical costs, estimated at $150,000, the family is absorbing the bulk of the other expenses.

epoole@theherald.canwest.com
© The Calgary Herald 2007

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Specialists Treat Primary Immunodeficiency Diseases More Aggressively Than Other Clinicians: Presented at AAAAI

February 26, 2007

Specialists Treat Primary Immunodeficiency Diseases More Aggressively Than Other Clinicians: Presented at AAAAI

By Bryan DeBusk

SAN DIEGO, CA — February 26, 2007 — A survey of academy members suggests that specialists in primary immunodeficiency diseases (PID) prescribe more aggressive therapies than their non-expert colleagues, according to findings presented here at the 2007 American Academy of Asthma, Allergy, and Immunology (AAAAI) annual meeting.

“The objectives of this survey were to identify clinical practice as applied to primary immunodeficiency disease patients, especially where there is little existing clinical evidence, to identify expert practices, and identify questions to fuel future clinical research in PID,” said Jordan Orange, MD, PhD, assistant professor of paediatrics, division of allergy and immunology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.

In a presentation on February 24th, Dr. Orange related the results of a web-based survey of AAAAI members on behalf of the AAAAI-PID committee and the Immune Deficiency Foundation. of 3,000 members invited to participate in the survey, 408 responded.

While 80% of respondents reported treating patients with PID, the majority reported that PID patients comprised less than 10% of their practices. The committee labelled physicians as PID experts if more than 10% of their patients had a PID. Both non-experts and experts reported seeing about 100 patients per week, and non-experts tended to see patients in solo practice while experts tended to operate in a hospital outpatient setting.

The survey responses indicated a number of differences in the way experts and non-experts treat patients with PID. Dr. Orange noted that while 87% of physicians with PID patients prescribe intravenous (IV) immunoglobulin (IG) therapy to prevent infection, experts are 6 times more likely to prescribe this therapy for their PID patients than non-experts.

Both experts and non-experts prescribed IVIG for all patients with X-linked agammaglobulinemia (XLA), but prescription patterns for other diseases were less consistent. Experts were more likely to prescribe IVIG for patients with ataxia telangiectasia, hyper-IgM syndrome, severe combined immunodeficiency, Wiskott-Aldrich syndrome, and X-linked lymphoproliferation.

Additionally, 63% of experts said they aim for trough IgG levels >600mg/dL while non-experts were more likely to aim for lower levels. No difference in the therapy schedule was reported between experts and non-experts, and 87.1% of respondents said they prescribe IVIG every 4 weeks while 10.6% prescribe every 3 weeks.

Prophylactic antibiotics are prescribed by 55% of respondents for at least some patients, and there was a trend toward experts using them more frequently, while some respondents prescribe them in addition to IVIG.

Reflecting on the importance of the survey results, Dr. Orange said, “I think it is important to have rigorous standards upon which the use of IVIG is based for PID …. Hopefully these data can be used to fuel pertinent questions.”

[Presentation title: Specialist Physician Perspectives on Primary Immunodeficiency Diseases: A 2006 Survey of the AAAAI Membership. Abstract 279]

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MyFox WGHP | Family Keeps Child in Virtual Bubble

February 21, 2007

MyFox WGHP | Family Keeps Child in Virtual Bubble

There’s a great video here of a mother and child, living in reverse isolation, while waiting for the SCID baby’s transplanted cells to begin to work. (click on the title of this article to see it.)

I don’t know how long the link will work, but I hope the news service keeps it up for quite a while.

There’s a new blog to go along with the video for comments.

http://community.myfoxwghp.com/blogs/bubbleboymom


Bone marrow donor found for Alberta ‘bubble boy’

February 19, 2007

Bone marrow donor found for Alberta ‘bubble boy’

Updated Mon. Feb. 19 2007 9:52 AM ET

CTV.ca News Staff

The family of a nine-month-old “bubble boy,” who has spent months living in isolation in an Alberta hospital, has received the news they’ve been waiting for. A bone marrow donor has been found who can help their son.

Evan Pogubila, has severe combined immunodeficiency disease, one of only a handful of children in Canada with the ailment. Caused by a genetic defect, the condition is the rarest, and deadliest, of the primary immunodeficiencies.

Children with the disease lack lymphocytes, the white blood cells that fight infection. Any contact with anyone with the slightest illness could compromise what little of his immune system is left. Even the common cold could be devastating.

The chances of finding an exact match for Evan were less than 1 in 3 million, making the connection even more remarkable.

His father, Fred Pogubila, says the family felt a wave of emotion upon learning of the news.

“Shock. Disbelief. Bewilderment. Excitement — the whole gamut of emotions came through. We’re just happy that we’re now in the game,” he told Canada AM.

Evan has been living in solitude from the public for more than three months — separated even from his twin sister Jordan, who doesn’t have the condition.

“That’s probably the hardest part of this right now,” says Pogubila. “We bring her in but they cannot have any contact. So we have a window that they beat on the glass against each other. Whether or not there’s a connection, we’d like to think this is. It’s fun to see them interact even if it is through a pane of glass.”

Evan’s only chance of leaving the hospital room he’s called home for more than half his life was a bone marrow transplant.

Last Thursday, Evan’s family received word that a bone marrow match had been found and the donor was willing to undergo the procedure to help Evan.

The transplant can only be performed at Sick Kids Hospital in Toronto. So next week, Evan will fly to Toronto on a medical air ambulance.

Pogubila says while the family is excited and grateful, they remain nervous about the road ahead. Evan will have to undergo chemotherapy to prepare his system for the transplant. And there’s no guarantee his body will accept the donor’s marrow.

“There’s a lot of work that goes on. The fact that we found ‘the magic bullet’ we have to put it into action right now. It is a long process that’s going to take place and the success rate, it’s not guaranteed that he has the perfect match, that it’ll engraft correctly to his body.”

Pogubila says he’s learned a lot from this experience, particularly how important it is to donate blood.

“It’s unfortunate that it’s taken me to be put in this situation to step forward and donate. But it’s the one thing that everyone has and the one thing that everyone can give. It doesn’t discriminate against age, colour race, economic status of some sort. It’s one thing that we can all give and we can all share.

“And basically, I’d like to give back to what we’ve been given from the community.”

Linkback URL: http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20070219/
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Association of Public Health Laboratories Applauds Introduction of Newborn Screening Saves Lives Act

February 15, 2007

Association of Public Health Laboratories Applauds Introduction of Newborn Screening Saves Lives Act

WASHINGTON, Feb. 15 /PRNewswire-USNewswire/ — The Association of Public Health Laboratories (APHL) commends Senators Chris Dodd (D-CT) and Orrin Hatch (R-UT) for their introduction of legislation to provide increased parent and health care provider education, improve follow-up care and enable states to improve their newborn screening programs. The Newborn Screening Saves Lives Act of 2007 represents a significant commitment to improving the health of children by assuring that testing will continue to occur with the greatest level of accuracy and that those children with life threatening and debilitating disorders will receive prompt and effective treatment.

“The nation’s public health laboratories have been at the vanguard of newborn screening since its inception in 1965,” said Katherine Kelley, DrPH, director of Connecticut’s public health laboratory. “I’m thrilled that Senator Dodd has again introduced legislation that will allow public
health laboratories to continue to provide the highly-accurate testing results — results that enable health care providers to immediately begin treatments that save and improve the lives of children — as technological advances broaden the number of disorders that can be detected. I urge all members of the Senate to cosponsor Newborn Screening Saves Lives Act of 2007.”

Public health laboratories conduct newborn screening tests on 97 percent of the babies born in the US — tests that have long been recognized as an essential and effective preventive public health service that identifies thousands of babies each year who are born with a genetic or metabolic disorder. Laboratories and parents must be confident that tests results are accurate and that disorders are not missed.

“This important piece of legislation is needed to ensure that all babies born in the US have an equal chance for a healthy start to life,” said William Becker, DO, MPH, chair of the APHL Newborn Screening and Genetics in Public Health Committee. “It is especially significant that the new bill directs the Secretary of Health and Human Services to develop a national contingency plan for newborn screening so we can build upon the experiences learned after Hurricane Katrina and that it continues to provide critical monies for assuring the quality of all newborn screening laboratory testing.”

The funding provided in the bill for the Centers for Disease Control and Prevention (CDC) will enable CDC to utilize state-of-the-art science to address pressing newborn screening issues that are of public health concern and:

— Develop new screening methods for specific disorders, including asthma, autism, diabetes, severe combined immune deficiency (SCID) and metabolic storage diseases such as mucopolysaccharidoses and adrenoleukodystrophy

— Adapt innovative technologies for screening and quality assurance

— Transfer appropriate screening technologies to state public health laboratories

— Assist states in conducting pilot studies related to new screening tests for newborns that would identify babies with disorders that are not part of the current panel of tests

— Develop systems for new screening tests to monitor the quality of testing methods in all laboratories

— Upgrade online data-reporting site to accommodate expanding the number of newborn screening tests that state laboratories conduct

— Develop DNA methods and controls for genetic measurements that will be used in the future to detect disorders CDC’s Environmental Health Laboratory is the only comprehensive source
in the world for ensuring the accuracy of newborn screening tests, and the nation’s public health laboratories depend on it for the success of their newborn screening operations.

The Association of Public Health Laboratories works with members to strengthen laboratories serving the public’s health. By promoting effective programs and public policy, APHL strives to provide public health laboratories with the resources to protect the health of US residents and
to prevent and control disease globally.

Contact: Jody DeVoll, Director of Communications and Membership, 240.485.2753,
jody.devoll@aphl.org

SOURCE Association of Public Health Laboratories

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Boy in bubble inspires donors

February 12, 2007

Boy in bubble inspires donors

Emma Poole, Calgary Herald
Published: Monday, February 12, 2007

Article tools

Evan Pogubila doesn’t know it yet, but he has inspired dozens of Calgarians to give a little bit of themselves to help save a life.

In honour of the eight-month-old, who has lived in isolation at the Alberta Children’s Hospital since November, friends and family have signed up to donate blood tonight. Others have also agreed to become bone marrow donors.

“It’s fantastic,” said Evan’s mom, Melanie Pogubila.

More Body & Health news

As the only child in Western Canada with severe combined immunodeficiency disease — a condition brought to the public eye by a 1976 John Travolta movie, The Boy in the Plastic Bubble — Evan has been living in solitude from the public for more than three months.

Caused by a genetic defect, the condition is the rarest, and deadliest, of the primary immunodeficiencies.

Children with the disease lack lymphocytes, the white blood cells that the body uses to fight infection.

For Evan, any contact with the public — including his twin sister, Jordan — could compromise what little of his immune system is left.

Transplantation is the only chance Evan has of beating the disease and leaving the hospital. As he waits, Evan regularly receives blood transfusions.

Melanie Pogubila is a longtime donor, while her husband, Frank, gave blood last week for the first time.

“Just through our experience with Evan, (Frank) realized that if someone is donating to Evan, he should be able to reciprocate,” she said.

While no one in Evan’s immediate family is a bone marrow match for the little boy, the Pogubilas hope their donation and that of their friends will help others.

The group will gather at the Canadian Blood Services office in downtown Calgary tonight for a donor clinic in honour of Evan.

More information on donating blood can be found at http://www.blood.ca.

epoole@theherald.canwest.com
© The Calgary Herald 2007

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Human disease clues riding on horse genome research

February 12, 2007

Human disease clues riding on horse genome research
By Bryn Nelson
Newsday
Associated Press

Scientists have found more than 80 genetically linked diseases that are common to both horses and humans.

Scientists have assembled the genetic blueprint of a thoroughbred mare, a rough draft of its entire DNA sequence that may point the way toward a better understanding of equine evolution, physiology and the dozens of diseases found in both horses and humans.

Claire Wade, a lead member of the sequencing team and a senior research scientist at the Broad Institute in Cambridge, Mass., said the assembled genome still contains sizable gaps and has yet to be thoroughly analyzed. Nevertheless, she and other researchers said its estimated 2.7 billion units, or letters, of DNA should provide a wealth of new information.

“It takes us from the relative Dark Ages of genetics to the relative forefront,” said Dr. Doug Antczak, a professor of equine medicine at Cornell University in Ithaca, N.Y.

Scientists isolated the DNA from Twilight, a mare housed at Cornell and bred to help Antczak understand how horse fetuses and placentas can successfully evade or defend against the mother’s immune system. Far beyond his own studies, however, Antczak said Twilight’s DNA may lay the foundation for research efforts around the world.

Like humans, for example, horses are susceptible to the West Nile virus and must contend with allergies and arthritis. Some suffer from neurological or muscular disorders. And Arabian horses can inherit a form of severe combined immunodeficiency, more commonly called “bubble boy” disease.

So far, researchers have found more than 80 genetically linked diseases common to both horses and humans.

Wade said racing horses may grant a better understanding of physiology, perhaps allowing veterinarians to help them and other breeds more easily recover from injuries. And because, like us, horses have been preyed upon by bears, wolves and predatory cats, they may teach us a thing or two about the biological basis of caution.

“Horses do get anxious,” she said. “Because they’re prey animals, they do have to be very aware.”

The $15 million sequencing effort, funded by the National Human Genome Research Institute, suggests we share about 85 percent of our genetic information with horses. Like us, they are thought to possess fewer than 20,000 genes, although their 64 chromosomes – half inherited from each parent – easily bests our 46.

The new genome may also allow researchers to peer into the evolutionary past of a mammalian group that includes tapirs, rhinoceroses and zebras.

linkback url: http://www.fortwayne.com/mld/journalgazette/living/16680370.htm?source=rss&channel=journalgazette_living


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