New diagnostic centre for ‘bubble babies’

January 30, 2007

From the story below, it looks like India is making a big step toward recognizing SCID. I hope we hear more about this initiative.
New diagnostic centre for ‘bubble babies

Tuesday, January 30, 2007 17:33 IST

MUMBAI: The Institute of Immunohaematology (IIH), which comes under the Indian Council of Medical Research, will start a centre to detect congenital Severe Combined Immunodeficiency (SCID) in children.

Children afflicted with SCID are called “bubble babies”. Although the number of children suffering is found to be large in the country, there is no systematic investigation or proper registry of these bubble babies, which would enable systematic healthcare for them, Director of IIH, K Ghosh told.

In order to investigate the number of cases and establish a country-wide registry, a beginning will be made soon in setting up a diagnostic centre at IIH.

“We will work in collaboration with Wadia children’s hospital in Mumbai as they get at least 200 children affected with SCID,” Ghosh said.

Already, IIH has sent one of its scientists to the UK to get trained in diagnosis.

“Once we succeed in establishing the centre and the technique in Mumbai, we will go for a country-wide registry and expand centres in other parts,” he added.

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Some People Don’t Realize How Lucky They Have It

January 29, 2007

Some people don’t realize how lucky they have it when they have a baby that’s healthy. They just don’t have a sense of the reality of what the alternatives could be. They are too naive or isolated from the realities of childhood disorders, and the loss of a child to a disease which could’ve been corrected if identified at birth.

From the

By Anna Jo Bratton/The Associated Press
To the Spierings, Nebraska’s requirement that newborn babies undergo blood screening within 48 hours of birth is an infringement on their religious beliefs and their right to decide what’s best for their four children.

The Spierings, who attend a fundamental Christian church and also follow some teachings of the Church of Scientology, wanted “that balance of our beliefs included into the births of our children,” Louise Spiering said.

The mandatory newborn screening test, in which a few drops of blood are drawn from a baby’s heel, screens for dozens of rare, congenital diseases, some of which can cause severe mental retardation or death if left undetected.

Nebraska is one of just four states – South Dakota, Michigan and Montana are the others – that doesn’t let parents reject the testing.

The Spierings, who are supporting legislation that would let parents decline the tests for religious reasons, wanted to observe a period of silence after their daughter Melynda’s pending birth. They wanted to avoid loud noises and reduce the pain she experienced in order to protect her mental health.

There’s even a 2nd family quoted with similar views:

The Spierings are not alone in opposing Nebraska’s law.

Mary Anaya and her husband, Josue, believe the Bible instructs against deliberately drawing blood.

And because, according to the book of Leviticus, “the life of the flesh is in the blood,” ignoring that directive may shorten a person’s life.

The children’s blood is “something precious in my sight and in the sight of God and not to be tampered with lightly,” Mary Anaya said.

“I’m not asking for anyone to not screen their child,” she said. “I’m asking for the right to decide not to screen mine.”

Obviously these families have never had to deal with a child who’s been permanently damaged by a metabolic disorder or life threatening infection, all because no one was able to recognize a genetic disease in a perfectly healthy looking baby. If these parents had lost a child to such a disease you can bet they wouldn’t be so cavalier about this. Do they really believe that they are immune to such complications? If even one child’s life can be saved by taking a few drops of blood from every infant, then it’s worth it. I just hope none of these families ever have to walk in our footsteps! Or perhaps they don’t want to know if their child has a life threatening disease. Perhaps they’d rather only have a perfect child. So what if that child does have a genetic disease or disorder, well then perhaps they feel that it would be better for the child to die than for them to go through the effort of raising a less than perfect child.

Plasma bank contributes $1.2 million to local economy

January 25, 2007

Web-posted Thursday, January 25, 2007
Spin doctors

Plasma bank contributes $1.2 million to local economy

By Jim McBride

Donors pack the lobby at Biomat USA’s plasma donor center almost daily in Amarillo, waiting to trade their blood plasma for a few dollars.

Biomat is a subsidiary of Grifols, a Spanish holding company specializing in the hospital and pharmaceutical industries. It collects blood plasma from donors at its Amarillo facility at 520 S.W. 10th Ave.

Spokesman Chris Healey said Biomat relies on repeat donors who provide blood plasma and carefully tracks them to make sure its blood products are safe.

If a donor comes in only once and doesn’t come in for another appointment, that donor’s plasma is tossed out.

“These people who donate plasma and who work at the centers are life-saving, life-changing.”

Kathy Antilla, director of education for the Immune Deficiency Foundation
“We don’t pay for their plasma. We compensate them for the time they spend in our facility. If they are donating plasma on a regular basis, we compensate them for that time,” he said.

Biomat’s plasma donors must fill out a detailed form and answer a series of questions about their health and personal history. They also must have a physical exam, follow special dietary regimens and comply with other instructions before they can donate.

Most donations take about 45 minutes. A staffer inserts a needle into the donor’s arm, which is hooked up to sterile, disposable tubing and a centrifuge.

“It will take out a volume of roughly a coffee cup of the blood, spin it down, we collect what we want and it returns the red blood cells through the same needle line back to the individual, pulls it out again, separates and does that process until we accumulate the weight that we need,” said Facility Manager Gordon Woods Jr.

The center has about 25 employees and pumps about $1.2 million a year in donor fees, taxes and employee salaries into the Amarillo economy, Woods said.

Biomat USA facilities nationwide generate about 1.5 million liters of plasma every year, enough to fill nearly two Olympic-size swimming pools.

The plasma can be turned into several products.

Biomat also tests donations for viruses and other impurities before its products are frozen and shipped to anywhere from California to Spain.

“The donor is actually paid cash at the end of their donation for their time. It’s very simple, quick, and we have the purity and the safety to follow it up and make sure that that product that’s going into another human being is the best on the market,” he said.

A donor can give plasma up to twice a week and can earn up to $240 a month.

Healey said paying people to donate ensures they come back and gives them an incentive to remain healthy.

It also helps keep adequate blood products in supply.

“If there weren’t compensated donors, there wouldn’t be enough plasma therapies for sick people who need them,” he said.

Human plasma is used to make life-saving medicines to treat rare diseases, such as hemophilia, primary immune deficiencies, genetic emphysema and shock, trauma or burns.

A major plasma product is known as IVIG, or intravenous immune globulin. It’s a blood product that helps patients with immune deficiencies.

“That product is extracted from the plasma that we collect at the plasma centers like the one in Amarillo. It’s one of the main medicines we take out of the plasma,” Healey said. “Without this medicine, patients get sick; they get all kinds of infections, and they can die.”

Kathy Antilla, director of education for the Immune Deficiency Foundation in Maryland, said plasma products that come from facilities like Biomat in Amarillo help patients whose bodies cannot make antibodies needed to fight off disease.

Antilla said her son, now 15, first began receiving intravenous plasma products about 10 years ago. He receives an intravenous infusion of plasma about every two weeks that replaces certain blood cells and gives him the antibodies he needs.

“As parents, we saw the change in him from the first infusion. All of a sudden he stopped coughing all night long, stopped vomiting when he ran, and there was a sparkle in his eye,” she said. “These people who donate plasma and who work at the centers are life-saving, life-changing.”

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Please Help Baby Caden Atchley

January 21, 2007

Please Help Baby Caden Atchley
From LiveJournal by levismommy


When I went to go visit my brother in Spokane, Wa over the past two weeks I learned about Baby Caden and how sick he is. Caden is almost 5 months old and he was born with a rare blood disease called SCID (Severe Combined Immunodeficiency). If any of you have seen the movie Bubble Boy that might help explain about this disease more. Caden can’t leave the hospital because he has absolutely no immune system, even the basic comman cold could kill him. He is in desperate need of a bone marrow transplant and with the many marrow drives they have done there has been no matches. I was unable to make it to a drive while we were in Spokane but I plan on going to the local blood bank here and getting tested to see if I am a match and I am also going to see if I can get Levi tested as well. All it is is a simple mouth swab to check to see if your a match.

I am posting this on here hoping that there are some others who would want to help. Giving money donations to their family is also greatly needed as you can expect their medical bills to be huge. Here is some info on that…
Donating to the Caden Atchley Care Fund at any Bank of America location. You can also mail donations to: Josh and Melissa Atchely, PO Box 155, Colbert, WA 99005

Here is the link to Caden’s page if you would like more information.

If you aren’t able to help in any other way at least keep Caden and his family in your prayers.

Repost this and maybe someone in your town can help.




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He lacks immune system, but local boy full of life

January 20, 2007

He lacks immune system, but local boy full of life
From the Wisconsin State Journal
Susan Lampert Smith
Contact Susan Lampert Smith at or 608-252-6121.
COTTAGE GROVE – Josh Osborn was born with the same scary condition as “the boy in the bubble,” but 7-year- old Josh is definitely not living his life in a bubble.

He’s the boy jumping off the coffee table.

He’s the boy climbing the back of the couch to capture his very patient cats, Pumpkin and Esther.

He’s the boy in the second grade at Taylor Prairie Elementary School in Cottage Grove, where he gets good grades and has a bunch of friends.

Most importantly, he’s a kid who is full of life as he waits for a gene therapy trial that holds promise for curing his condition, which is called severe combined immunodeficiency (SCID), and means that Josh was born without a working immune system.

His parents, Clark and Julie Osborn, are thrilled Wisconsin is the first state to study whether to test all newborns for the condition.

“This is what all SCID kids could look like,” Clark Osborn said, as he watched Josh chase the cats. In fact, he added, they might look “even better, because he hasn’t been cured yet.”

Science has advanced considerably since David Vetter was born in Houston in 1971 and whisked immediately into a sterile bubble, where he spent 14 years waiting for a cure before he died. (Vetter’s older brother died of SCID in infancy.)

Today, babies with SCID who are diagnosed early and have a bone marrow transplant before age 4 months have more than a 95 percent chance of being cured. Donated bone marrow allows them to grow a new immune system.

The problem is that most babies aren’t diagnosed until they have suffered through a string of serious illnesses. Experts say SCID is the cause of many unexplained infant deaths. And the success rate of transplants falls off dramatically as the babies get older.

The Jeffrey Modell Foundation, which is launching the pilot screening with the state Laboratory of Hygiene at UW-Madison and Children’s Hospital of Wisconsin in Milwaukee, estimates that testing 70,000 Wisconsin newborns each year will find one child with the condition.

You could say that it was luck Josh Osborn’s SCID was discovered before he became seriously ill.

But that’s not how his parents see it.

“We believe it was divine intervention,” Clark Osborn said, “but people who don’t agree with that would say it was luck.”

Neither parent has a family history of the inherited disease. But when their 2-month-old son developed a strange lump in his groin, they took him to Urgent Care, where a doctor ordered a blood test. It showed Josh had no white blood cells. A second test confirmed those results.

Medical science advanced since the “bubble boy” era and so has the Internet.

Clark Osborn recalls that Josh was diagnosed on a Friday, and within hours, he was in e-mail contact with Duke University’s Dr. Rebecca Buckley, a leading expert on the disease. Within days, Josh had an appointment with Buckley, and his parents had joined an Internet support group for the disease.

Julie Osborn and Josh moved to North Carolina for several months, and at age 5 months, Josh had a “half- match” bone marrow transplant from his mother. The transplant fixed his immune system for more than two years, until it began to fail.

Since age 3, he’s been on a weekly injection of an immune-boosting drug that costs $3,200 per vial. Once a month, he gets an infusion of another drug.

Other than that – and the fact he stays home when chicken pox is going around school – Josh has been a healthy and happy boy.

His parents say that the Dean Health Plan has been great about covering his medicine and referring him to Duke. But they hope for a permanent cure from a gene therapy experiment set to begin soon at the National Institutes for Health.

They hope the pilot study will become permanent, so that if a baby is born with SCID in Wisconsin, the child will have as good or better a chance at a healthy, relatively normal life as Josh.

Finding that one child a year is a matter of life and death, the difference between life in a bubble and a life full of life.

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Tests May Help End ‘Bubble Boy’ Disease

January 15, 2007

Tests May Help End ‘Bubble Boy’ Disease
11:23 AM PST, January 15, 2007

WASHINGTON — Doctors were stumped. Tests for meningitis, cancer, a list of other diseases all were negative — yet just days after a sudden high fever sent 8-week-old Anthony James Mingione to the hospital, he died. An autopsy uncovered the lethal secret: Anthony was born without a working immune system. A rare genetic disorder known as the “bubble boy disease” rendered him vulnerable to the most minor of germs.

Now Wisconsin is about to begin the nation’s first experiment at testing newborns for this killer, officially named SCID, in hopes of giving babies like Anthony a chance at lifesaving treatment — even as scientists ask how many infant deaths attributed to infections really might be due to the immune destroyer.

“These people look like the Gerber baby until they get sick,” says Dr. Rebecca Buckley, a SCID specialist at Duke University and longtime advocate for newborn screening.

“I am more concerned than ever that a lot of these babies never make it to the pediatrician, much less an immunologist.”

Between 40 and 100 U.S. babies are estimated to be diagnosed each year with SCID, or “severe combined immunodeficiency disease.” The best-known victim was Houston’s famous “bubble boy” who lived in a germ-proof enclosure until his death at age 12 in 1984.

But no one knows how often SCID is missed. In a few dozen more cases? Another 100?

“We think there’s a lot more out there and that the infants just die,” says Dr. Jack Routes, a pediatrician at Children’s Hospital of Wisconsin. He is heading the newborn-screening experiment, with funding from a parents’ advocacy group, the Jeffrey Modell Foundation, that may help answer that question.

Catching the disease before a baby gets sick means a far better chance that treatment is successful, explains Dr. Jennifer Puck of the University of California, San Francisco.

Puck developed the first screening test that promises early diagnosis. This winter, Wisconsin’s state laboratory begins the first phase of its pilot project, practicing with Puck’s test on anonymous newborn blood samples. If no problems crop up, later this year Routes and colleagues will begin a study that attempts to screen all Wisconsin newborns for SCID — to see how accurate it really is, and track what happens to those diagnosed.

“I know this will change the course of SCID,” says Anthony’s mother, Tara Mingione of Long Island, N.Y., who has pushed for screening since his death two years ago. “Anthony had absolutely no chance to live unless he was tested at birth.”

Today, all U.S. newborns are tested for a variety of rare but devastating genetic diseases — using a single spot of blood from the baby’s heel a day after birth — to catch the few thousand who need fast treatment to avoid serious problems.

Not yet on that list: SCID and other “primary immunodeficiency” diseases, meaning children are born with faulty immune-system genes. There are different SCID subtypes, but the end result is that babies can’t produce important disease-fighting cells called T cells.

Without treatment, they usually die before their first birthday. Bone marrow transplants can provide them with stem cells that take root and begin producing T cells after all, curing some children and greatly extending the lives of others.

But Duke’s Buckley calls age key: She reports 95 percent survival in SCID babies transplanted before they’re 3 months old — almost always those born to women who know SCID has struck a relative, and thus seek at-birth testing. After that age, survival plummets because the babies are so sick going into surgery.

Moreover, total costs for transplanting a baby shortly after birth are about $100,000, Buckley says, compared with bills that can reach $1 million after they get sick.

When doctors suspect a baby has SCID, they can check a vial of his or her blood to see if T cells are present. But routine screening — checking those dried blood spots — requires a whole different approach.

Puck had to create a kind of DNA test to detect bits of genetic material that signal T cells’ maturation, and thus should be visible only in healthy babies.

It’s not perfect, cautions Robert Vogt, a research chemist at the Centers for Disease Control and Prevention. But it seems accurate enough to study in thousands of babies, scientists concluded at a November meeting sponsored by CDC and Modell Foundation. Vogt says California, New York and Missouri are among a handful of other states considering pilot screening projects.

Also, CDC is funding California health officials to use the new test to check stored blood samples from nearly 2,000 babies who died before 18 months of age — probing whether SCID gets missed.

Mingione is convinced it does, because she almost turned down the autopsy that finally diagnosed Anthony. To avoid chancing another tragedy, last spring she adopted a healthy baby boy.

* __

EDITOR’S NOTE — Lauran Neergaard covers health and medical issues for The Associated Press in Washington.

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Parents’ pride at seeing their brave Misha start school

January 14, 2007

Parents’ pride at seeing their brave Misha start school

A BRAVE little girl has a very special reason to celebrate her first ever day at school.

For Misha Butler has had to put up with a lot more than most five-year-olds after being born without an immune system.

The girl who became Bredenbury Primary School’s newest pupil on Monday spent the first years of her life in a specialised hospital isolation unit.

She was given a bone marrow transplant when she was just eight weeks old, but this did not prevent a series of further complications and another gruelling transplant a year later.

Misha remained in hospital and was only allowed to go home to Upper Sapey, near Bromyard, after her second birthday.

Even then, Misha was still in and out of hospital as doctors constantly monitored her progress.

But this week, the youngster managed what her parents, Tracey and Terry, feared she might never achieve – and went to school.

Her father, Terry, said: “It is a big occasion for all of us. Misha has been looking forward to it and we, as parents, are incredibly pleased and proud that our little girl has come so far.

“Misha still has many problems. She cannot walk, is blind in her left eye and has no hair or eyebrows.

“It will be an ongoing thing for the rest of her life with lots more hospital visits to come, but her immune system is now up to about 90% and she is going to school! What she is doing today really is incredible.”

Misha was treated at the Children’s Bone Marrow Transplant Unit in Newcastle-upon-Tyne – one of only two units in the UK that can give babies like Misha the meticulous medical and nursing care they need.

The treatment was paid for by the NHS, but a charity group called the Bubble Foundation was formed to raise money for medical research and staff training to help children born without immune systems.

Funds raised also pay for more simple things like accommodation to house mothers and fathers visiting their sick children.

Terry, aged 31, and his brother, Harry, 33, are now planning to trek across Peru to raise money for the Bubble charity.

“The hospital does not get the attention it deserves because it is not as well known as Great Ormond Street,” said Terry. “But it is an amazing place and if it was not for that hospital, there is absolutely no way Misha would be with us today.”

During pregnancy, doctors told Terry and Tracey there was a one in four chance that Misha could be born with a rare immune deficiency similar to the type that took the life of their first son, Nicholas, when he was just three-years-old.

“We were not quite sure what to do when we were told that, but we could not go through with an abortion and we are so, so pleased with our decision now,” Terry said.

Within a few weeks of Misha’s birth, a bone marrow donor was found in America. It was such a close match that doctors said it was like a sibling.

But even this was not enough to stop a stressful and draining two-year period where Misha was kept in a high-tech sterile space known as a bubble.

Every time Terry and Tracey wanted to get close to Misha, they had to scrub for three minutes and wear a special gown because even the common cold passed on by a mother’s kiss could have been fatal.

However, slowly and surely Misha grew in strength and was allowed to go to a half-way-house to get used to being out of a hospital.

When she returned to the Herefordshire countryside a few weeks later, she was still susceptible to the mildest illness and was a constant visitor to hospitals in Hereford, Birmingham and Newcastle.

But the stresses and strains of the last five years were all put to one side on Monday morning when Terry and Tracey took Misha to school.

They are both extremely grateful to Bredenbury Primary School, which has arranged for a special support worker to sit next to Misha in the classroom.

And as Misha faces a new challenge, her father and uncle are preparing for one of their own.

The pair have been given free Halo membership to use Bromyard Leisure Centre for three months as they prepare for the 10-day South American trek.

Terry said they hoped to raise somewhere in the region of £20,000, and are currently busy organising bingo nights in Bromyard and auctions of sporting memorabilia, which includes a signed rugby shirt from Newcastle Falcons.

Anyone wishing to help Terry with either financial donations or raffle prizes can call the Bubble Foundation on 0191 256 3460.

7:00am Sunday 14th January 2007

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