Parents hope for perfect donor match

Parents hope for perfect donor match
Gary Yokoyama, the Hamilton Spectator

Little Evan Glen (above with his mother, Donna, looking for an educational program to play) suffers from severe combined immune deficiency, also known as boy in the bubble disease. They're hoping to find a matching bone marrow donor.

Evan Glen
Evan Glen, now 2 1/2, was on life support before doctors took his frantic parents seriously. At eight months old, he started throwing up. He stopped eating, drinking and playing. They rushed him to hospital. The diagnosis was worse than anything his parents could imagine.
By Joanna Frketich
The Hamilton Spectator(Apr 14, 2007)

It started with a cough that never went away. Evan's parents were told it was a cold he was having difficulty shaking.

When Evan was eight months old, he started throwing up. Again they were told not to worry. It's just a virus.

A few weeks later, he stopped eating, drinking and playing.

"He'd just lie around like a lump," said his mom Donna Glen. "Jim and I were panicking. We were terrified."

Desperate for help, they demanded to see a pediatrician, who sent Evan for tests.

He was on life support by the time the results came back.

When his parents rushed him to McMaster Children's Hospital on July 4, 2005, he was nearly lifeless.

"If only someone had listened to me," said Glen.

The diagnosis was worse than anything Glen or her husband could have imagined. Evan can't defend himself from infection by viruses, bacteria and fungi because of a defect in the white blood cells that would normally protect him. It's called severe combined immunodeficiency (SCID).

"It's a very dangerous and very ominous condition," said Dr. Chaim Roifman, who specializes in the disease at Sick Children's Hospital in Toronto. "They're born with no ability to fight even a minor infection."

First there was relief that finally Evan would get help.

"Mostly it made me more angry," said Glen. "I wanted to yell and scream."

Against all odds, Evan came off life support a month later.

"He sat up, grabbed the soother, took a bottle of formula and drank it down," said his mom. "I actually thought, 'Is this real?'"

He moved into a hospital room while waiting for a bone-marrow transplant to give him a new immune system. He was so vulnerable to infection, he wasn't allowed to touch the floor. There was a small mat beside his bed to play on. If any toys went off the mat, they had to be taken away to be cleaned.

He couldn't wear normal clothes, only hospital gowns specially laundered. His room was off limits except to a small skeleton staff and his parents.

He spent both his first birthday and Christmas there. Hospital staff and volunteers provided the gifts because his father was struggling to support the family on his own, painting cars. Evan's illness meant his mother couldn't go back to her job driving a school bus when her maternity leave ended.

It took seven months to find Evan a bone marrow donor. It wasn't a perfect match, but eight out of 10 would have to do.

"It's not great," said Roifman. "You use eight out of 10 when you have no choice."

Evan was literally put in a plastic bubble to transport him directly to Sick Kids. He had chemotherapy to prepare for the transplant on March 30, 2006.

It went unusually well, and Evan left the hospital 55 days after the transplant, far ahead of schedule.

For the first time in 11 months, Evan was home.

"He just circled the house," said Glen. "He was enthralled. We thought it was over."

Evan and his big sister, Olivia, had a normal life to start living.

In July, Glen worked up the courage to take them to Gage Park. They went at 7 a.m. so they'd be the only ones there. Glen sprayed every piece of playground equipment with Lysol before taking Evan out of the stroller.

"He froze," she said. "He just stood there. I told Olivia to show him how to play. He absolutely loved it. He loved the slide and the swings."

At the end of the month, Glen added the library to their limited outings. She phoned first to find out when it wasn't busy. Again, she got out the Lysol and sprayed the children's area before letting him play. They'd wash their hands before leaving the library. When they got home, they immediately changed their clothes.

The crowning moment was Evan's second birthday. He had a real party attended by about 30 friends and family at the YWCA on Ottawa Street.

"I was crying," said his mom. "We actually had a normal life. I should have bitten my tongue."

It came to a crashing end weeks later. Evan had diarrhea. He got better in four days, giving hope that his new immune system was working. But one week later he was sick again.

"It was our worst fear realized," said his mom.

Evan has graft-versus-host disease. His donor's immune cells are literally attacking his body. He was at high risk for it because his donor wasn't a perfect match. An eight out of 10 match has a 50 per cent chance of success. A perfect match works 80 per cent of the time.

Best is bone marrow from a sibling, which has a nearly 100 per cent success rate. But, unfortunately, Olivia isn't a match for Evan.

That leaves the toddler back at Square 1. He's in Sick Kids waiting for another transplant from the same donor.

His parents aren't allowed to know who it is or where he is.

"Thank you, thank God for you," says Glen choking back tears. "Because of you, Evan had a chance. Because of you, Evan has a second chance."

But his parents refuse to give up on that perfect match. They pray someone joins the registry today, tomorrow, soon -- before it's too late.

"Evan has beaten every odds given to him," said his mom. "We are very hopeful."

jfrketich@thespec.com

905-526-3349

How to donate

bone marrow

What it is: Bone marrow is the tissue in the soft centre of the bones that manufactures blood cells.

Red blood cells carry oxygen, white blood cells fight infection and platelets help stop bleeding.

How it works: Diseased bone marrow is

destroyed by

radiation or chemotherapy. It's replaced by healthy marrow from a volunteer donor.

Who donates: Of the 200 Canadians needing a bone-marrow transplant each year, fewer than 30 per cent find a family match. Canadian Blood

Services has a registry of more than 230,000 willing Canadian donors. Worldwide, there are more than 50 registries listing more than eight million people.

How the bone marrow is collected: It's an operation. The donor is under general anesthetic; the marrow is taken from the hip bones using a special syringe and needle. The donor is released the same day but will be stiff and sore for at least three days.

The body replaces the bone marrow cells within two to three weeks.

How to join the bone marrow

registry: Healthy adults aged 17 to 50 can contact Canadian Blood Services at 1-888-2 DONATE or bloodservices.ca.

-- Canadian Blood Services

Other ways

to help Evan

z Evan needs a blood product called platelets weekly to help his blood clot. Hamilton Health Sciences is

often short of platelets. To donate platelets, contact Canadian Blood Services at 1-888-2-DONATE or bloodservices.ca.

z To offer financial or other assistance to the family e-mail tracy_smith122000@yahoo.com.

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The Boy in the Bubble

The Boy in the Bubble

Evan Glen will die if exposed to germs. He needs a bone marrow transplant to live. Odds of a perfect match: less than 8 million to one.
By JOANNA FRKETICH
The Hamilton Spectator(Apr 14, 2007)

Evan Glen has lived half of his life in a hospital room.

Most of the rest has been as a prisoner in his own home.

The toddler's grandparents are even barred from his East Hamilton house. They have rarely touched their two-and-a-half-year-old grandson.

Evan has no friends, no play dates and none of the usual preschool outings to parks and libraries.

It's too dangerous. His immune system doesn't work. He was born with severe combined immunodeficiency (SCID) so even the most common bugs could kill him.

"This is why they call it the boy in the bubble disease," said his mom, Donna Glen. "I don't take any chances. It's just too risky."

Glen washes her hands at least 20 times a day. She goes through two cans of Lysol disinfectant spray and one canister of sanitizing wipes a week.

It's a far cry from the hockey practices and birthday parties she pictured when she became a mom.

But there is hope for a normal life.

A bone marrow transplant could cure Evan.

It's the only treatment for a disease so rare that Toronto's Hospital for Sick Children has only seen 75 kids with SCID in nearly 25 years.

Evan inherited it from his mother who didn't know she carried a defective X chromosome.

He's had one transplant already. It wasn't a good match and didn't work. But the unidentified donor is the only person out of more than 8 million people on the registry who comes close to matching Evan.

Unless a new donor is found, doctors will have no choice but to try using the same one again this summer.

That only gives Evan a 50 per cent chance of survival.

"My husband Jim wants him to live a normal life," said Glen. "My (wish) is if he could just live."

jfrketich@thespec.com

905-526-3349

VITAL Program Launched to Educate Healthcare Providers and Patients On Administration of Subcutaneous Immunoglobulin Therapy

VITAL Program Launched to Educate Healthcare Providers and Patients On Administration of Subcutaneous Immunoglobulin Therapy
April 13, 2007 - 1:54 PM

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KING OF PRUSSIA, Pa., April 11 /PRNewswire-FirstCall/ -- CSL Behring, a worldwide leader in developing subcutaneous immunoglobulin therapies, announced today the launch of a new program to educate healthcare providers and primary immunodeficiency (PI) patients on the proper technique for administering subcutaneous immunoglobulin therapy. The program, named VITAL(TM), an acronym for Vivaglobin Integrated Training And Learning, is being introduced to support the at-home use of Vivaglobin(R) (Immune Globulin Subcutaneous, Human), the first and only U.S. Food and Drug Administration- approved subcutaneous immunoglobulin (Ig) for treatment of patients with primary immunodeficiency. Vivaglobin was approved by the FDA on January 9, 2006.


Until recently, PI patients needed to schedule appointments with a hospital, physician or homecare company to receive intravenous immunoglobulin treatment. With the approval of Vivaglobin, a subcutaneous form of immunoglobulin, PI patients can now self-administer the treatment at home, given the approval of their physician. This new convenient treatment option will require education to teach patients how to properly manage their own therapy.


Through VITAL, CSL Behring offers nurses and physicians various tools and programs to assist them in teaching patients how to self-administer Vivaglobin at home.


"One of CSL Behring's most important goals is to extend professional support and know-how well beyond the point of bringing high quality therapies to patients," said Robert Lefebvre, general manager and vice president of U.S. Commercial Operations at CSL Behring. "We continually seek ways to ensure that consumers who choose our products understand how best to use them. The VITAL program is an excellent example of that commitment."


All patients who start on Vivaglobin receive a patient starter kit to help manage their therapy. The kit includes helpful tools, such as administration guides, product information and a treatment journal.


Specialty pharmacies contracted to dispense Vivaglobin will provide patient training, as well as the drug, infusion pump, needles, tubing and any other supplies needed for treatment. Generally, the average patient requires approximately 4 or 5 educational sessions with a nurse before beginning self- administration independently.


Healthcare providers interested in requesting the VITAL educational program or related materials can access them through the Web site at www.Vivaglobin.com.


About Vivaglobin


Vivaglobin is delivered directly under the skin via a small portable pump. In clinical trials, Vivaglobin was shown to be a safe and effective immunoglobulin replacement therapy for treating patients with PI. The trials also assessed patients for health-related quality of life through at-home self-administration and reported increases in general health with patients expressing a preference for SC administration over IV administration.


Vivaglobin is derived from human plasma. As with all plasma-derived products, the risk of transmission of infectious agents including viruses and - theoretically, the Creutzfeldt-Jakob disease (CJD) agent - cannot be eliminated completely.


The most frequent adverse event reported in clinical trials was injection- site reaction, consisting of mild or moderate swelling, redness and itching. No serious local site reactions were observed and reactions tended to decrease substantially after repeated use. Other adverse events included headache, gastrointestinal disorder, fever, nausea, sore throat and rash. Full prescribing information about Vivaglobin is available at www.Vivaglobin.com.


About CSL Behring


CSL Behring is a global leader in the plasma protein biotherapeutics industry. Passionate about improving the quality of patients' lives, CSL Behring manufactures and markets a range of safe and effective plasma-derived and recombinant products and related services. The company's therapies are used in the treatment of immune deficiency disorders, hemophilia, von Willebrand disease, other bleeding disorders and inherited emphysema. Other products are used for the prevention of hemolytic disease of the newborn, in cardiac surgery, organ transplantation and in the treatment of burns. The company also operates one of the world's largest plasma collection networks, ZLB Plasma. CSL Behring is a subsidiary of CSL Limited, a biopharmaceutical company with headquarters in Melbourne, Australia. For more information, visit www.CSLBehring.com.


Source: CSL Behring

CONTACT: Sheila A. Burke, Director of Communications & Public Relation
Communications of CSL Behring, +1-610-878-4209, Sheila.Burke@cslbehring.com;
or John Ruane of Ruane Communications, +1-678-585-0176, jbruane@rcipr.com, for
CSL Behring


Web site: http://www.cslbehring.com/
http://www.vivaglobin.com/

linkback url: http://www.drugnewswire.com/15996/

Patients with adenosine deaminase deficiency surviving after hem

Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
Manfred Hönig1, Michael H. Albert2, Ansgar Schulz1, Monika Sparber-Sauer1,
Catharina Schütz1, Bernd Belohradsky2, Tayfun Güngör3, Markus T. Rojewski4, Harald Bode1, Ulrich Pannicke4, Dominique Lippold4, Klaus Schwarz4, Klaus-Michael Debatin1, Michael S. Hershfield5, and Wilhelm Friedrich1

1 Department of Pediatrics, University of Ulm, Germany; 2 Dr von Haunersches Kinderspital, Ludwig Maximilians University Munich, Germany; 3 Division of Immunology/Hematology/BMT, University Children's Hospital, Zürich, Switzerland; 4 Institute for Transfusion Medicine, University Hospital of Ulm and Institute for Clinical Transfusion Medicine and Immunogenetics, Ulm, Germany; 5 Duke Medical Center, Duke University, Durham, NC

Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that causes an autosomal recessive variant of severe combined immunodeficiency (SCID) and less consistently other complications including neurologic abnormalities. Hematopoietic stem cell transplantation (HSCT) is able to correct the immunodeficiency, whereas control of nonimmunologic complications has not been extensively explored. We applied HSCT in 15 ADA-deficient patients consecutively treated at our institutions since 1982 and analyzed long-term outcome. Seven patients received transplants without conditioning from HLA-matched family donors (MFDs); the other 8 patients received conditioning and were given transplants either from HLA-mismatched family donors (MMFDs; n = 6) or from matched unrelated donors (MUDs; n = 2). At a mean follow-up period of 12 years (range, 4-22 years), 12 patients are alive with stable and complete immune reconstitution (7 of 7 after MFD, 4 of 6 after MMFD, and 1 of 2 after MUD transplantation). Six of 12 surviving patients show marked neurologic abnormalities, which include mental retardation, motor dysfunction, and sensorineural hearing deficit. We were unable to identify disease or transplantation-related factors correlating with this divergent neurologic outcome. The high rate of neurologic abnormalities observed in long-term surviving patients with ADA deficiency indicates that HSCT commonly fails to control CNS complications in this metabolic disease.

Blood, 15 April 2007, Vol. 109, No. 8, pp. 3595-3602.
Prepublished online as a Blood First Edition Paper on December 21, 2006; DOI 10.1182/blood-2006-07-034678.

linkback url: http://bloodjournal.hematologylibrary.org/cgi/content/abstract/109/8/3595

Phoenix talk to focus on immunodeficiency diseases

Phoenix talk to focus on immunodeficiency diseases

Apr. 11, 2007 12:00 AM
Physician Ralph Shapiro of Midwest Immunology Clinic in Plymouth, Minn., will talk about primary immunodeficiency diseases at a session for patients.

The Immune Deficiency Foundation, which is hosting the session, says the diseases are disorders in which part of the body's immune system is missing or does not function properly. Severe combined immune deficiency, known as boy-in-the-bubble disease, is one of them.

In secondary immune deficiency disease, the immune system is compromised by outside factors, such as viruses and chemotherapy.
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The meeting will include information about administration of the antibody immunoglobulin G, insurance reimbursement and a question-and-answer session.

Details: 11 a.m.-3 p.m. Saturday at Chevy's, 2650 E. Camelback Road, Phoenix. Free, includes lunch. Reservations required by Thursday. 1-(520)-270-2654 or vohnout1@comcast.net.



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0411healthbriefs0411.html