I've had to move this blog over to Wordpress because I've had so many problems posting to this site. Seems I only get a post to upload about one out of every 3 times I try. I've written support, but didn't get any useful help. So, I've moved the site. You can click on http://scidstuff.wordpress.com to find newer entries.
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.
http://www.hamiltonspectator.com
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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
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 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
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.
advertisement
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.
linkback url: http://www.azcentral.com/arizonarepublic/arizonaliving/articles/
0411healthbriefs0411.html
| By Jane Elliott BBC News, Health reporter |
A quarter of a century might separate two Great Ormond Street patients - but both mark very special milestones in the hospital's history. 
The first and 1,000 bone marrow transplant
Andrew Williams, now 27, was the first to have a bone marrow transplant (BMT) at the world renowned children's hospital.
Joshua Perry-Pope, now aged two, became the 1,000th to have the procedure.
Dr Paul Veys, bone marrow transplant consultant at Great Ormond Street, said there had been massive steps forward in the period between Andrew and Josh's life-saving treatments.
Changes
"When we first started doing bone marrow transplants it was very scary. When we look back we used to lose as many as we saved and we had about a 50% survival rate.
"Now we do about 70 BMTs a year and 60 of the children go home."
When we look back we used to lose as many as we saved 
Dr Paul Veys
Dr Veys said medical advances in chemotherapy treatment had helped more patients to survive.
The advent of the bone marrow register had also had a significant impact, because it had enabled doctors to match up many more patients with suitable donors.
But he said there was still a poorer survival rate among ethnic minority groups because too few donors from these communities are joining the register.
Specialist Maria Finch agreed: "Unfortunately only 30% of our patients find a matched BMT donor from within their own family; therefore the majority of donors come from people who have placed themselves on a volunteer register.
"The registries urgently need more people aged 18-40 to join, in particular young male donors and those from minority ethnic backgrounds."
First
Gill Williams said she and husband Bryan had few doubts when they agreed Andrew could have Great Ormond Street's first BMT.
They were told that their four-month-old son had severe combined immune deficiency (SCID) and without a BMT he would die.
"It was very unreal; it was just like a film. We knew right from the start that it was the only treatment that was available.
"The only difficulty we faced was because our other son was also involved (he was the donor). But we explained about it as well to him as we could as he was only three at the time."
Progress
Gill continued to breast-feed Andrew to give him the best natural immunity she could.
He had the transplant and suffered a series of setbacks due to the onset of graft versus host disease - where the donor cells realise they are in an alien body and fight it.
I realise how lucky I am to be here Andrew Williams
But Andrew, from Woking, recovered and was allowed home three months later.
Andrew said he would always be grateful for his second chance.
"I was too young to remember my experience as a patient and the BMT, but I realise how lucky I am to be here.
"Now this procedure is very common, but as I was the first at GOSH nobody knew very much about it.
"Until you get much older you do not realise how lucky you have been."
He said that apart from the initial set-backs he had remained remarkably healthy.
Recent
Joshua Perry Pope, from Hampshire, was diagnosed with acute myeloid leukaemia in June 2005 and was successfully treated with chemotherapy.
His mother Louise explained: "All you think about is going forward and we started to live a normal life and we were just scheduled to come back for check-ups.
"Our aim was to be home for Christmas and this had given us something to focus on and look forward to.
"You cling on to anything positive.
"This really felt like that was the hardest time in my life and now things were going to be normal."
Just before Christmas Louise gave birth again and Josh was allowed home to celebrate.
But six months later his condition had deteriorated and doctors confirmed he had relapsed. He had more bouts of chemotherapy and doctors scheduled a BMT, which was a successful process.
"You live it all the time," said Louise. "If he gets a temperature we have to go the local hospital and we have been in hospital four times since the BMT."
Initially the family made weekly visits to Great Ormond Street, but now these are monthly and they are hoping Josh can start playschool in September.
"There are days when you do have your ups and downs, but I need to be strong for Josh.
"We did get the option not to carry on the treatment, but we would not have done anything different," said Louise.'LITTLE GIFT FROM GOD'
(http://www.suburbanchicagonews.com/heraldnews/news/305825,4_1_JO21_AIDAN_S1.article)
March 21, 2007
By CINDY WOJDYLA CAIN Staff Writer
CREST HILL -- Aidan Walsh looks and acts like most other 6-year-old boys.
He's smart, a little shy, plays T-ball and is enrolled in karate classes.
"He's a blue belt, he's very proud of his blue belt," said his mother.
But a closer inspection reveals that the kindergartner is ill, seriously ill. He has gray patches of hair on his head and psoriasis on his skin. Those outward symptoms are only the tip of the iceberg. A much more serious battle is raging inside Aidan's body.
Aidan was 10 months old before his parents, Shawn, and Amy Walsh of Crest Hill, knew something was wrong. Aidan fell over in his crib and didn't cry or make a sound, Amy said. And he was so pale he was the color of mustard, she said.
That was the first of many, many trips to the doctor and hospital. In the past five or so years, Aidan has been diagnosed with seven different auto-immune disorders, which means his body's immune system is attacking his own blood, nervous system and small intestine. All of his disorders together are known as a combined immune deficiency.
Through all the tests, blood infusions, hospitalizations and medications -- which have included steroids, powerful antibiotics and immune system suppression drugs -- Aidan, who attends St. Mary Nativity School, has been a trouper, Amy said.
The worst setback was when Aidan was 2½ and he developed Guillain-Barre syndrome, which made him have to learn to sit up and walk all over again.
Now Aidan and his family are headed toward the most difficult trip of their lives. Aidan needs a stem cell transplant to survive his many illnesses. He's relatively healthy now, but through the years he has developed more and more symptoms and syndromes, Amy said. Doctors have said if he's ever to have a chance at a normal life, now is the time. They fear he could develop a life-threatening infection or cancer if his illness is allowed to progress.
Hope for Aidan
The Walshes found out 14 months ago that his condition is genetic. Both Amy, 28, and Shawn, 30, have recessive genes that, when combined, led to Aidan's illnesses.
"It's like two needles in a haystack," Amy said of the chances of them both having the recessive gene.
A second son, Nolan, 3, received only one recessive gene so he didn't get sick. Amy assumed she wouldn't have any more children because of the genetic issue. One week later, she found out it was too late, she was already pregnant.
But that pregnancy has turned out to be the best hope Aidan has for a normal life. Liam, 5 months, is healthy, and he is a perfect bone marrow match for Aidan.
"He's our little gift from God," Amy said.
Liam's umbilical cord blood was saved when he was born. That blood will be used to give Aidan a new immune system.
"It was God's way of telling me, this is what he needs us to do," Amy said of Liam's birth.
In April, the family will head toward a hospital in Cincinnati, Ohio, that specializes in bone marrow transplants for children with auto-immune disorders. For 10 days, Aidan will withstand a series of chemotherapy treatments that will completely wipe out his faulty immune system.
Then, Liam's umbilical cord blood will be injected into one of Aidan's arteries through a central line implanted in the boy's chest.
"After that we wait for it to engraft and grow and make new cells," Amy said. "That's when we pray that it works."
Amy said Aidan could be hospitalized for about 100 days. But he will have to stay near the hospital for as long as a year. Amy is hoping he can come home three months after he's released from the hospital, but so many factors are involved in how long it will take him to recover, the homecoming date is impossible to predict.
The boy knows of his upcoming procedure.
"He's scared," Amy said. "He's got lots of questions. He also knows it will make him better."
The stem cell transplant is risky. The chemotherapy treatment will make Aidan weak and vulnerable to infections. But it's the only hope the boy has of living a normal life, or perhaps living at all, Amy said.
Through it all, Amy said her husband, who is an academic adviser at Washington Jr. High School, has kept her strong. He is funny and he makes her laugh, which has helped them both get through the darkest days.
"Without him, I don't think I would have survived," Amy said. "He keeps the laughter going in our house."
Aid for Aidan
The couple's families have rallied around Aidan. Aidan's grandparents are County Executive Larry Walsh and his wife, Irene, and Keith and Kathy Courtright, all of Elwood.
Family members have planned a benefit from 2 to 6 p.m. Sunday at St. Mary Nativity School Gym, 706 N. Broadway, Joliet. Tickets cost $15 and can be purchased at the door. There will be raffles, food and a silent auction.
Donations also can be sent to the Aidan Walsh Benefit Fund, c/o Bank of Manhattan, P.O. Box 85, Manhattan, IL, 60442-0085. For more information go to the aid4aidan.org Web site.
Amy said she is so appreciative of all who have helped the family. Businesses have donated items for the raffle. Others are providing food. She said her mom's beauty shop is having a cut-a-thon.
Insurance pays for most of Aidan's medical care. But the apartment and living expenses in Cincinnati are not covered. That's where the benefit and donations will help.
Though she never says, "Why me," Amy said she sometimes wonders "Why Aidan?" But those kinds of thoughts don't linger long. Instead, Amy and Shawn are focused on the future -- Aidan's future.
"Twenty years down the road, I hope Aidan will look back and say this made me a better person," Amy said.
Reporter Cindy Wojdyla Cain may be reached at (815) 729-6044 or at ccain@scn1.com
linkback url: http://www.suburbanchicagonews.com/heraldnews/news/305825,4_1_JO21_AIDAN_S1.article
Bubble boy in hunt for a donor
Mar 18 2007
Laura Kemp, Wales on Sunday
BOY in the Bubble Rhys Harris is searching for a bone marrow donor.
The six-year-old from Newbridge is one of only six people in the world to suffer from Nemo, a genetic disease which hits the immune system.
His condition has left him with tuberculosis and doctors give him only a slim chance of survival.
But before he is given chemotherapy and placed in a sterile ward separated from the outside world by airtight doors, he needs a bone marrow transplant.
People in good health aged 18-40 are invited to a local donor session on Wednesday from 4-7pm at Hollybush Primary School in Ton Road, Cwmbran.
The Anthony Nolan Trust's donor recruitment manager Karen Archer said: "Thousands need a bone marrow transplant each year and only one third find a compatible donor in their family.
"Rhys could have a bright future and so could the other 7,000 patients waiting to find a donor."
Linkback URL: http://icwales.icnetwork.co.uk/0100news/0200wales/
tm_headline=bubble-boy-in-hunt-for-a-donor&method=full&objectid=18771882&siteid=50082-name_page.html#story_continue
Blood drive to help Hamilton toddler
By Denise Wilson
Staff Writer
Monday, March 12, 2007
HAMILTON — A local car dealership is stepping up to help Tyler Fisher, a Hamilton toddler suffering from multiple diseases, including "bubble boy" syndrome.
The 19-month boy's dad, Adam, is a salesman at Performance Toyota and the dealership is holding a blood drive to help Tyler, said Verna Jaqui, human resource manager for the business.
Hoxworth Blood Center will be conducting the blood drive. It is scheduled to run 11 a.m. to 2:15 p.m. and 3:30 to 7 p.m. Wednesday on a bus that will be parked in front of the dealership's corporate offices, 5726 Dixie Highway in Fairfield.
On Nov. 27, 2006, Tyler was admitted to Children's Hospital Medical Center in Cincinnati for sudden liver failure.
After undergoing multiple tests, Tyler was diagnosed with acute autoimmune hepatitis, said his aunt Alana Retherford. Acute autoimmune hepatitis is a condition in which the patient's immune system attacks the liver, causing inflammation and liver cell death.
Tyler was placed at the top of the hospital's liver transplant list. However, with no donors immediately available, he received the upper lobe of his mother's liver, Retherford said.
After complications arose from the liver transplant, Tyler underwent a bone marrow biopsy on Jan. 2. It showed he has bone marrow destruction, along with "bubble boy" syndrome.
Lymphoproliferative syndrome, also known as Duncan's syndrome, is a rare fatal disease that affects only boys. The only cure is a bone marrow transplant, which Tyler is scheduled to undergo on March 20.
Tyler also was diagnosed with severe combined immunodeficiency syndrome with post-transplant lymphoproliferative disease, or lymphoma, which caused by the Epstein-Barr Virus.
SCIDS is a life-threatening syndrome of recurrent infections and PTLD is an uncommon complication of both solid organ and allogenic bone marrow transplantation.
Retherford said Tyler is doing better, especially since the tumors caused by the PTLD have also disintegrated to almost nothing.
"Which means the chemotherapy and steroids have been working," she said.
Contact this reporter at (513) 820-2190 or dewilson@coxohio.com.
Linkback URL: http://www.journal-news.com/news/content/oh/story/news/local/2007/03/12/
hjn031307bloodrive.html?cxtype=rss&cxsvc=7&cxcat=16
Boy's best chance for life is in Milan
CHARLA JONES/TORONTO STAR
Parker DesLauriers, seen with mom Tracy, is off to Milan to take part in an experimental treatment.
Mar 12, 2007 04:30 AM
Tanya Talaga
Health Reporter
After an agonizing wait, 14-month-old Parker DesLauriers and his parents are heading off to Italy today so the infant can begin potentially life-saving, experimental gene therapy.
Parker suffers from a rare disease called ADA-deficient severe combined immunodeficiency (SCID), an illness he inherited from his parents, who both carried a copy of a defective gene.
"I started packing today and it's crazy," Parker's elated mother Tracy told the Toronto Star last week. "I've got five suitcases. We are going from a nice-sized home to a tiny hotel room."
The condition, also known as "boy in the bubble" disease after a famous case in the 1970s, is so rare that the Hospital for Sick Children has only treated 15 patients in the past two decades.
Parker spent most of his first five months of life at Sick Kids – isolated from others for fear he would catch an infection his body is unable to fight off. He was finally allowed to go home to Ajax last June while he is on ADA replacement therapy and his immune system is propped up.
Air Canada has donated the DesLauriers' flights to Milan and is making every effort to ensure the family arrives safely, including whisking them through the airport check-in and security lines. "It's perfect," she says. "Five minutes before we get to the airport, we'll call them and they'll check us in and take us to the lounge."
Air Canada will also assist when the family lands in Frankfurt,in order to catch their connecting flight to Milan. "I'll bring my little Lysol wipes and wipe down his seat," said Tracy, who always makes sure Parker is in the cleanest environment possible.
The disease means his body is missing the enzyme adenosine deaminase (ADA). Without this enzyme, which removes toxins from the body, toxins accumulate in the blood and organs and can lead to critical infection.
He currently gets ADA through enzyme injection therapy at Sick Kids twice a week and he's thriving.
But few children survive more than three years on this therapy, known as PEG-ADA.
The experimental gene therapy in Milan is Parker's best hope at long-term survival. The family will be in Milan for six months. There, Italian doctors, led by Dr. Alessandro Aiuti, will remove stem cells from his bone marrow and introduce a normal version of the ADA gene. These will be reinjected and it is hoped they will migrate to the bone marrow and begin making ADA.
Scientists believe gene therapy holds much promise for the future. A cell's genetic material is stored on chromosomes in the nucleus on long molecules of deoxyribonucleic acid or DNA, which contain genes that dictate an organism's characteristics.
"Parker has been doing so well, I don't even think about this not working," said Tracy of her son, who weighs 26.5 pounds.
After they arrive, Parker will go through one month of tests. Then he'll be given chemotherapy and placed in isolation. After a period of time, the gene therapy treatment will begin.
There are 16 children participating in the clinical trial. Since this is a trial, the family doesn't have to pay for the medical treatment.
But both Tracy and her husband Kevin have taken leave from their teaching jobs to be with their son full-time, so money will be tight.
The family is looking forward to a big homecoming in six months. "Our arrival home will be more fun than the departure," she said. "My mom has been crying for two weeks."
Linkback URL: http://www.thestar.com/News/article/190748
Infant to receive bone marrow transplant
07:40 PM PST on Friday, March 9, 2007
SPOKANE -- Late Friday KREM 2 News learned a Spokane infant stricken with a rare disease will undergo a bone marrow transplant after finding a matching donor.
Six-month old Caden Atchley was born with a rare blood disease commonly known as the "bubble boy" syndrome.
Just before 5:00 p.m. on Friday, Caden's family learned doctors have found a 100% match for their tiny son. Caden's mother, Melissa Atchely, says all doctors will say about the donor is that they are 21 years old and live in the United States.
The syndrome's medical term is severe combined immunodeficiency. That means Caden does not have an immune system and is unable to fight off any infections or viruses on his own. A bone marrow transplant is the best treatment for the disease.
Caden was diagnosed when he was just a few weeks old. He and his parents were flown to Seattle Children's Hospital where they have been ever since.
Caden begins pre-treatment next month and is scheduled to have the transplant April 27th.
Linkback URL: http://www.krem.com/news/local/stories/
krem2_030907_cadendonor.36a98a79.html#
Running to make a difference to their children's lives
Jeans for Genes Press Release
7th March 2007
Running to make a difference to their children’s lives
Jeans for Genes’ runners are inspired by their families to take part in the Flora London Marathon on Sunday 22nd April
Runners in the Jeans for Genes Team for this year’s Flora London Marathon will have their children in mind as they sweat their way along the 26 mile course! It’s the first time the charity has had a team in the event, and the runners are aiming to raise a total of around £15,000 for research into the causes and treatments of genetic disorders which affect children.
Kris Leaworthy from Warmley in Bristol is aiming to raise over £2000 as a ‘thank you’ to the charity after his little boy received pioneering gene therapy to restore his immune system. Freddie, who’s now looking forward to his second birthday, was born with Severe Combined Immunodeficiency which meant he had no natural protection against infection. But doctors at Great Ormond Street Hospital were able to develop this life changing treatment through funding from Jeans for Genes and Freddie is doing well.
Charlotte Egelnick from Lewisham in south London finally got a diagnosis for her little girl after a trip to the dentist. An article she was reading in a waiting room magazine came up with a name for the symptoms Isobel had been showing and doctors were then able to confirm that she had Rett Syndrome. At 19 months old, she can’t speak, can’t walk and can’t feed herself and her symptoms are likely to get progressively worse over the next two years. But her future is unknown as Isobel has a unique form of the Syndrome, she’s unlike any other girl in the world.
Stan ‘the Ironman’ Tedford takes his fundraising as seriously as he takes his athletics. The pest controller from Sherborne in Dorset regularly takes part in triathlons, including the Ironman Challenge in his home town which involves a 2.4 mile swim, a 112 mile bike ride and a marathon! He’s passed on a chromosome rearrangement to his daughter, Maisie, which will mean that she could have problems starting a family when she’s older. Many of the 4,000 identified genetic disorders are inherited like Stan and Maisie’s and Stan is hoping to raise more than £2,000 for Jeans for Genes by completing the course in a very respectable time of three hours.
Case studies are also available on the remaining five members of the Jeans for Genes Marathon Team. For more information or to arrange an interview with any of the runners, please contact Lisa Pettifer, PR and Fundraising Officer at Jeans for Genes at lisa.pettifer@jeansforgenes.com or on 0207 163 6911
Notes for Editors
Jeans for Genes supports research into genetic disorders, and information and respite for families, through its four partner charities:
• The Primary Immunodeficiency Association
• The Society for Mucopolysaccharide Diseases
• The Chronic Granulomatus Disorder Research Trust
• Great Ormond Street Hospital Children’s Charity
It also selects guest charities each year to receive grants for medical research or family support projects. In the last 12 years, the charity has raised over £27 million.
www.jeansforgenes.com
Registered Charity number 1062206
linkback url: http://www.responsesource.com/releases/
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Community raises funds for boy with 'bubble' disease
By Mary Gottschalk
Photograph courtesy of Trudy Jones
Play Time: Sebastian Westfall plays with cars at his home, where he lives in a controlled environment designed to prevent exposure to germs. Sebastian, who has a scab on his nose from falling off his bicycle, has a rare genetic disease called severe combined immunodeficiency (SCID), commonly known as 'bubble boy disease.'
Family rallies behind toddler
Hamilton youth suffers from multiple diseases, including 'bubble boy' syndrome.
By Denise Wilson
Staff Writer
Sunday, March 04, 2007
HAMILTON — In his first 18 months of life, Tyler Fisher could say "momma" and "daddy."
But now, the words have stopped.
On Nov. 27, 2006, Tyler was admitted to Children's Hospital Medical Center in Cincinnati for sudden liver failure. After undergoing multiple tests, Tyler was diagnosed with acute autoimmune hepatitis, said Alana Retherford, Tyler's aunt.
"He's very weak," Retherford said. "He ... went into the hospital being able to say mommy and daddy and that kind of thing, and now he doesn't speak at all."
Acute autoimmune hepatitis is a condition in which the patient's own immune system attacks the liver, causing inflammation and liver cell death. Tyler now is at the top of the hospital's liver transplant list. However, with no donors immediately available, he received the upper lobe of his mother's liver, Retherford said.
"The whole idea of waiting for somebody's else child to die, I think that really got to her," Retherford said of her 25-year-old sister-in-law, Cindi.
Then, after some complications from the liver transplant, doctors found something else wrong with Tyler. He underwent a bone marrow biopsy on Jan. 2, which showed he has bone marrow destruction along with XLP, or "bubble boy" syndrome.
Lymphoproliferative syndrome, also known as Duncan's syndrome, is a rare fatal disease that affects only boys. The only cure is a bone marrow transplant.
Tyler's parents, Cindi and Adam Fisher, received more bad news. Their son was diagnosed with severe combined immunodeficiency syndrome with post-transplant lymphoproliferative disease or lymphoma, which is caused by the Epstein-Barr Virus.
SCIDS is a life-threatening syndrome of recurrent infections and PTLD is an uncommon complication of both solid organ and alllogenic bone marrow transplantation.
Retherford said Tyler recently started undergoing chemotherapy and his family just learned that Children's Hospital has found a perfect match for his bone marrow.
Nevertheless, doctors have taken Tyler off all immune suppressant drugs to help with the lymphoma and now he stands at a high risk for rejection of his new liver, Retherford said.
"I've broken down several times," she said. "Every time something goes bad, she (Cindi) just says we're in the best hospital, we have the best doctors and that's all I can think of right now. I don't want to think of the negative.
Cindi said prior to his illnesses, her son was a happy, energetic and playful toddler.
"He can't stand up or anything now."
Meanwhile, the financial debt is mounting for the Hamilton family, Retherford said.
Adam is working 60 to 70 hours a week and Cindi has been at Tyler's side around the clock through this whole ordeal.
That's why the family has set up a charity benefit in Tyler's name that will run from 7 p.m. to midnight on April 21, at the Electrician's Union Hall, 4300 Millikin Road in Hamilton. Pre-sale tickets are available for this event for $20 per person.
The event also will include a silent auction of items donated by the community. Auction donations my be sent to P.O. Box 13387 Hamilton, OH 45013.
Donations also may be made to the Tyler Fisher Benefit Fund through an account at any Fifth Third Bank branch.
Contact this reporter at (513) 820-2190 or dewilson@coxohio.com.
Linkback URL: http://www.journal-news.com/news/content/oh/story/news/local/
2007/03/04/hjn030407fisher.html?cxtype=rss&cxsvc=7&cxcat=16
N.B. `bubble baby' to undergo experimental gene therapy in Halifax Breaking News
By The Canadian Press
MONCTON, N.B. (CP) - Baby Katlyn DeMerchant's whole world is her hospital room.
In a story reminiscent of the movie 'The Boy in the Bubble,' just one bad germ could prove Katlyn's undoing. She has virtually no immune system.
"She's not allowed out of this room," mom Daisy Gallant says from Katlyn hospital's room at the IWK Health Centre in Halifax.
"She hasn't been out of this room in seven months. We have to don gloves and masks just to be in here, so we haven't even been able to touch her. She's basically living in a bubble. Her hospital room is her bubble."
But there is hope for the 13-month-old girl, who has been chosen to undergo an experimental gene therapy at the respected National Institute of Health in Bathesda, Md.
The call to get on a plane to the United States could come at any moment.
"We're all packed," Gallant, of Moncton, says of her child, herself and her partner Johnathan DeMerchant of Centreville, N.B.
The family got the word Friday that Katlyn will be one of the few in the world to undergo this type of gene therapy. The baby was diagnosed with a severe combined immunodeficiency, known as SCID, adenosine deaminase, or ADA, an extremely rare genetic disorder.
Her options were a bone-marrow transplant or a type of gene therapy for which very few patients qualify.
"Then we found out that with what Katlyn has, the chances of a bone-marrow transplant going wrong is very high. It's just too much of a risk," her mom says.
Things were looking bleak, but then came word that the Maryland hospital was willing to try the experimental gene therapy on Katlyn.
"This is very exciting because now we can see just a little bit of light through the tunnel," Gallant says. "I'm very excited for her to go there."
Gene therapy attempts to correct genetic diseases at the molecular level by fixing what's wrong with the errant gene. It was first tried at the U.S. hospital in 1990 when doctors used a virus to deliver the correct ADA gene in two child patients. Both are doing well, but this form of treatment remains very much experimental.
The expensive treatment is paid for by the health system, by research grants to the hospital and public donations to Katlyn's parents, who can't work while they help care for their daughter.
The Katlyn DeMerchant Trust Fund continues to collect donations at the Scotiabank in Florenceville.
linkback url: http://www.hfxnews.ca/index.cfm?sid=20707&sc=89
Dashing for Grant's Cause
Posted: 11:49 AM Mar 4, 2007
Last Updated: 10:39 PM Mar 4, 2007
Reporter: Kristen Ross
Amongst all the racers at the first annual Armadillo Dash, several red shirts bearing the phrase "Running for Grant" stood out from the crowd.
Melissa Cunnigham was one of nearly 30 runners who chose to wear the shirt in honor of a very special little boy.
"Grant has a very rare disease called SCID, otherwise known as the bubble boy syndrome," said Cunningham. "He has been very ill. He is two-and-a-half years old, almost three, and we decided to just raise awareness in his honor."
Cunningham is a friend of Grant's family and decided to organize the group.
In Grant's short life, he has already endured so much. He has already had three bone marrow transplants.
However, things for Grant are currently looking better. Cunnigham says the youngster's courage is something that could inspire many.
"What he went through will not be in vain," said Cunningham. "Now somebody else will know about what he went through and that they can raise awareness in his honor, and maybe somebody else will be saved through this."
The Scott & White Marrow Donors Program was also in attendance at the race, ready to get as many willing people as possible to sign up to become a donor.
"Anybody that comes up can register," Cunningham said. "They'll get swabbed in their cheek, there's no blood involved. It's very simple. They'll fill out some simple forms and then they will be in the registry."
And for those who were "Running for Grant," they hope people will seriously consider becoming a donor so that others in need can soon be on the road to recovery.
linkback url: http://www.kbtx.com/home/headlines/6297807.html
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
LINKBACK URL: http://www.canada.com/calgaryherald/news/
story.html?id=01d879f0-0ae4-48c5-b5e6-a80ea7c0066f&k=5979
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]
Linkback URL: http://www.docguide.com/news/content.nsf/news/852571020057CCF68525728E00545185
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'
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
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
linkback URL: http://www.prnewswire.com/cgi-bin/stories.pl?ACCT=104&STORY=
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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 www.blood.ca.
epoole@theherald.canwest.com
© The Calgary Herald 2007
Linkback URL: http://www.canada.com/topics/bodyandhealth/
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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
A few good viruses
7 February 2007
by Hamish Clarke
Cosmos Online
Viruses generally get a bad rap, but in laboratories around the world, these miniscule hijackers are themselves being hijacked to treat some of humanity’s most feared diseases.
As far as words with negative connotations go, it's hard to top 'virus'. AIDS, bird flu, cholera, Dengue fever, Ebola - and that's just the first five letters of the alphabet. And when Agent Smith tells Neo in The Matrix that he considers the human race a virus, it's widely understood that he's not paying a compliment.
But for a rising number of scientists, viruses aren't sinister at all. Instead, they are at the forefront of the latest advances in genetic technology, bringing hope to those with previously incurable diseases.
Hitchhikers, hijackers & hosts
Defining viruses is notoriously difficult. Though viruses are a subject firmly rooted in biology, ask a biologist for an explanation of what they are and you're likely to hear some emphatically non-biological descriptives like 'particle', 'entity' and 'fragment'.
Like some bacteria, and even 'higher' eukaryotic organisms such as fungi, viruses are entirely dependent on a host organism for survival. But unlike the others, viruses are not generally afforded 'living' status because they consist of little more than DNA or RNA wrapped in a shell, without the tools for reproducing themselves or turning their genetic information into useful proteins.
When a virus infects a host cell, the cell becomes its workshop. It hijacks the machinery of the cell, turning it from its usual purposes to the sole task of replicating the virus's genetic material and protein coat. So effectively does the virus take over the cell - so many copies of the virus does it produce - that the cell eventually suicides, bursting under the pressure of the viral progeny (also called bicentuplets), setting them free to infect other cells and continue the cycle.
But there is another path the virus can take, one that has spawned a research love affair with viruses. Rather than immediately hijacking the cell for its own reproductive ends, sometimes a virus will insert its genes into the host's genome, ensuring their safety and biding its time until conditions are right for replication. Often this is not harmful to the host cell, and during this period of dormancy the viral DNA gets replicated along with the rest of genome when the cell divides. Eventually, a trigger may activate the viral genes, which usurp control of the cell's machinery and send off daughter viruses to infect other cells.
Tool thief or tool?
In 1952, Martha Chase and Alfred Hershey used viruses to help establish that DNA, rather than protein, forms the basis of heredity. Cheap, quick to produce, and easy to modify, a core group of viruses has filled out the toolboxes of many a biologist ever since.
Their ability to entwine themselves with the host's genome has made viruses the darlings of the field of gene therapy. The once outlandish scenario of going into a person's cells and correcting genetic 'typos' is now an earnest aim of researchers, who hope intentional viral infections will one day help sufferers of diseases such as Parkinson's and Severe Combined Immunodeficiency (SCID), also known as 'bubble boy syndrome', a mutation in the genome that prevents the body's immune system from functioning.
Researchers plan to 'hijack the hijackers' - swapping the virus' harmful genes for a corrected version of the patient's defective genes and using the virus' unique abilities to insert the gene into patient's genome. In reality, the procedure is fraught with difficulties, not least getting the right amount of gene in the right location without side effects.
Pavel Osten from Northwestern University in Chicago, Illinois, recently co-authored a paper on the use of viruses as DNA delivery systems, or vectors. "In my view, it is most likely that this work [gene therapy] will become a mainstream treatment of some of the devastating brain disorders for which there is currently no treatment," he wrote.
But how would you feel about being injected with a virus to cure a disease? According to Osten, the risks are low and decreasing. "The viral vectors … are in most cases stripped down to the most basic elements that are required for gene delivery, and thus in no possible way pose any risk with respect to the original disease."
Viruses don't attack only animal cells, however. The vast majority of viruses actually target bacteria, including the bacteria that infect humans; they are called bacteriophages, or phages for short (from the Greek phagein, to consume). "For years researchers have been looking at using this targeted bacterial killing as an alternative to antibiotics," says Jason Clark from Moredun Research Institute in Scotland. While this might seem a bit like inviting in the barbarians, it's also sound science; in August of last year, the U.S. Food and Drug Administration (FDA) approved a bacteriophage food spray designed to reduce the amount of illness-causing bacteria on ready-to-eat meals.
It's a virus' world
By probing their workings and exploiting their functions in laboratories around the world, scientists have gone a long way toward demystifying viruses. But recent revelations about the extent of viral diversity could radically shift our perceptions of them again.
The advent of a range of DNA-sequencing technologies has allowed microbiologists to move beyond the constraints of studying only what they can culture in the lab, and glimpse what exists 'out there' - in the soil, in the sea and in our guts. And the results have been eye opening. According to some estimates, the total number of viruses exceeds the total number of cells in every other life form - including bacteria - by a factor of ten. "The total biomass and biodiversity of viruses is truly staggering," says microbiologist Nick Coleman, from the University of Sydney in Australia.
So what are all these viruses doing? Should we be avoiding contact with other people and frequently sterilising ourselves? According to Coleman, viruses actually do a lot to control other parasites. "The implication [of microbial biodiversity studies] is that most, if not all, larger microbes are subject to viral parasitism, and that viruses might be crucial in controlling the populations of other microbes."
Forest Rohwer of San Diego State University in southern California has conducted several landmark studies of marine microbial diversity. Rohwer has seen a change in attitudes towards viruses over the years. "Scientists have always recognized the importance of viruses, but recently it has become clearer that viruses are an integral part of every ecosystem and can't be ignored when we try to understand how life on Earth works," he says. "We usually only hear about viruses in the context of human disease. But most viruses are actually not harmful, and in fact have played an important part in evolution and in maintaining healthy ecosystems."
Andrew Holmes, a microbiologist from the University of Sydney, thinks that people should know that "viruses are everywhere and do not instantly equal 'bad'… [they] have the potential to cause very rapid biological change through epidemic disease, but that is exceedingly rare," he says. "Vigilance is important but panic is unwarranted." Holmes points out that this same process is an important part of correcting imbalances that occur in nature. For example, one mechanism by which algal blooms - explosions of algae that choke sea life and disrupt food chains - break down is viral disease. As Holmes puts it, "such viruses are the means by which the ecosystem corrects itself."
According to Rohwer, when you multiply the number of viruses out there by the billions of years they've been around, their probable influence over evolution is huge. "They are able to move genetic information between different hosts, but we still do not fully understand how this has influenced, and continues to influence, the evolution of new species."
So the next time your nose starts to run or you feel a tickle in your throat, spare a thought for your uninvited guest … and the role you play as gracious host to a galaxy of hitchhikers.
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Calgary's 'boy in bubble' awaiting surgery
Baby Evan needs a bone marrow transplant done only in Toronto
Melanie Pogubila must don sterile clothing before holding her eight-month-old twin son, Evan, who lives in a special germ-free room at the Alberta Children's Hospital. Evan is the only child in Western Canada with a rare immune system disease.
Melanie Pogubila must don sterile clothing before holding her eight-month-old twin son, Evan, who lives in a special germ-free room at the Alberta Children's Hospital. Evan is the only child in Western Canada with a rare immune system disease.
Photograph by : Leah Hennel, Calgary Herald
Emma Poole, Calgary Herald
Published: Monday, February 05, 2007
From a second-floor isolation room at the Alberta Children's Hospital, little Evan Pogubila puts his hand to the glass.
Inside the room, Evan's mom holds the eight-month-old baby on her hip, bouncing him up and down while blowing against his chubby cheeks through her protective face mask.
For nearly half his brief life, Evan's mom hasn't been able to touch her lips directly to his silky smooth face.
She's not been able to touch him with her bare hands, or let the boy grab her hair. Evan's twin sister Jordan is the lucky one -- mom Melanie kisses her every day.
But Jordan has an immune system to protect her. Evan doesn't. His best chance for a normal life is a rare bone marrow transplant -- a procedure not available in Calgary.
The only portion of his mom's body that Evan has been able to see is her eyes.
The rest is a head-to-toe tarp, covered with sterile clothing, including a gown, cap, booties, and latex gloves.
"He is the boy in the bubble," explains Melanie. "I'm just raising my child in the hospital."
As the only child in Western Canada to suffer from 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 outside world for more than three months.
Any contact with the public -- from his twin sister to his cousins -- could compromise what little he has left of his immune system.
The closest Evan can get to playing with his twin is to grasp at her picture taped to the crib inside his hospital room.
"Kids are incubators and we can't risk letting her in there," Melanie said.
It was early November when Melanie noticed Evan's appetite begin to wane. He was breathing rapidly and "just wasn't interested in eating," she said.
It took 10 days for the doctors at the hospital to diagnose his condition as SCIDs. He hasn't left the hospital since.
"He loves to see people at the window. He loves to stare outside," Melanie says, adding Evan's care at the hospital has been first rate.
Caused by a genetic defect, SCIDs is the most rare -- and deadly -- of the primary immunodeficiencies.
Children with the disease lack lymphocytes, the white blood cells that the body uses to fight infection.
They suffer from an abnormal number of infections, including pneumonia and meningitis.
The world first learned of the disease more than 30 years ago after the diagnosis of American David Vetter, who lived for 12 years in a hermetically sealed plastic bubble.
Technological advances have prevented Evan from having to live in the same enclosure.
Instead, Evan will remain in the special hospital room waiting for a call from Toronto's Hospital for Sick Children to say a bone marrow donor has finally been found.
Transplantation is the only chance Evan has of beating the disease and leaving the hospital.
The problem, however, is that the family will have to move to Toronto for up to a year as the youngster undergoes treatment.
"I'm not a patient person, so this is killing me," Melanie says of the wait to find a matching donor.
No one in her family was an identical match.
The family has been told several suitable donors may have been found abroad, but more testing is needed.
"There's some excellent possibilities that they're pursuing," Melanie says.
While the Alberta government will pay for Evan's medical costs, estimated at $150,000, the family must absorb the bulk of the other expenses.
They can't stay at the Ronald McDonald House in Toronto because there are too many children there and the potential for germ exposure is high. Instead, the family will have to rent a furnished apartment -- at roughly $3,600 a month.
Evan's immunologist, Dr. Stephen Cheuk, said while bone marrow transplants on SCIDs patients are 90 per cent successful, it's imperative the family stay in Toronto for him to receive the best possible care.
Cheuk said Calgary doesn't have its own facility to do the procedure because it's so rare. There are too few patients to justify the cost.
"One a year just isn't enough.
To have a whole transplant unit is rare," said Cheuk, one of only three immunologist-allergists in Calgary.
It's estimated there are a handful of children in Canada with the same condition as Evan.
Once Evan gets to Toronto, he'll undergo chemotherapy to prime his immune system for the transplant.
The first few months after the procedure will be critical. His body can either accept the donor's marrow, or fight against it.
"Any little infection can potentially kill him," said Cheuk.
Despite the challenges ahead, Melanie said she's eager to get to Toronto. Getting there means being one step closer to taking Evan home for good.
When this ordeal is over, she's hoping to spread the word about the importance of donating blood and signing up as a bone marrow donor.
"The awareness just isn't there unless you're impacted by a friend or family member," she said. "I don't want people to feel sorry for us. I just want to raise awareness."
The family will hold a special donor clinic Feb. 12 in honour of Evan. The group will give blood at the downtown Canadian Blood Services offices.
Agency spokeswoman Doris Kaufmann said 80,000 new donors Canada-wide are needed this year to keep up with the rising demand.
"The number (of donors) are increasing, but we need more," she said. "We need more of an ethnic mix."
For more on how to donate, go to www.bloodservices.ca.
epoole@theherald.canwest.com
