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

Patients who became medical milestones

Patients who became medical milestones

By Jane Elliott BBC News, Health reporter

The first and 1,000 bone marrow transplant

A quarter of a century might separate two Great Ormond Street patients - but both mark very special milestones in the hospital's history.

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.

Linkback URL: http://news.bbc.co.uk/1/hi/health/6455191.stm

'LITTLE GIFT FROM GOD'

'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

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/
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Blood drive to help Hamilton toddler

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/
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Boy's best chance for life is in Milan

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

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

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

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Community raises funds for boy with 'bubble' disease

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.'

There's going to be a big party for Sebastian Westfall on March 8 with music, songs, balloons and good things to eat, but the almost 5-year-old won't be there.

It's too dangerous for Sebastian to be around a crowd because he could catch something; an infection that a healthy child can easily weather could be fatal to him.

Sebastian has a rare genetic disease called severe combined immunodeficiency (SCID), commonly known as "bubble boy disease."

Sebastian's family, along with a group of business owners along The Alameda, hope the event they are hosting will raise money to defray some of the costs of a new medical treatment.

Unlike David Vetter, another child born with SCID and the inspiration for the 1976 made-for-TV film, The Boy in the Plastic Bubble, Sebastian doesn't live in a bubble.

However, he does live in a very controlled environment, and his contact with others is also carefully controlled.

Born eight weeks prematurely on April 6, 2002, Sebastian spent the first three months of his life in hospitals.

"This is an autosomal recessive gene," says Lynette Westfall, Sebastian's mother. "I'm a carrier and my husband is a carrier. It's rare and not typically tested for because it's very rare that two people would carry it. We have a one-in-four chance of having a child with SCID."

An early diagnosis identified Sebastian's condition, allowing doctors to begin treatments that have prolonged his life.

"When Sebastian was first born, we couldn't take him out of the incubator. When he was in isolation, we had to scrub in and put on a mask. We couldn't be sick. Sometimes my husband and I could just look through the window," Westfall says.

"I got to hold him a little bit, but there were times I couldn't hold him because there were too many things like breathing tubes in the way. I would just sit with him for a long time and rock him."

Westfall has done as much as she can to give her son a normal life, but his condition limits activities most children take for granted.

"He's attended some preschool, but only from April to October, then we take him out because it's the cold and flu season," she says.

Westfall's husband, Christopher, works from home, and Westfall says her employer, Williams-Sonoma, has been very accommodating.

"I work four 10-hour days. Chris' mother comes on Monday, and my mom comes Tuesday, Wednesday and Thursday," she says.

Trudy Jones, Westfall's mother, calls Sebastian "the apple of my eye, and I'm grateful I get to baby-sit him three times a week.

"He's a joy. A normal, active child, but we have to be really careful he's not exposed to anything. We've become germaphobic. We wash our hands and carry antibacterial wipes and Purell with us.

"We're very careful. If we go to a movie theater and someone coughs, I move."

While Jones says, "Sebastian is fun to be with," she adds, "it's sad in many respects because he can't be around other little children. To me it's sad, but he doesn't know. I don't know how it's going to be a little later."

Westfall says her fellow employees are aware of Sebastian's condition and understand when she can't socialize with them or shake hands.

"We have to keep our exposure to germs as low as possible," she says.

Sebastian's SCID is linked to an adenosine deaminase (ADA) enzyme deficiency. Currently he receives two shots a week in his thighs, and every four weeks he must have an IV infusion of antibodies. Additionally, he takes multiple antibiotics.

Westfall says her son often complains about the necessity for shots, "but he's not at the point where he asks why other kids don't have to."

Taking medicine is such an integral and important part of Sebastian's life that Jones says he assumes it's the same for everyone else.

"Sometimes he will ask, 'What did you do last night? Did you take your medicine? Did you brush your teeth?' That's his routine," she says.

Vetter lived for a dozen years in his "bubble," which was actually a controlled environment room, before leaving the room and contracting a fatal infection.

Sebastian's family hopes to see him live long beyond the age of 12, into adulthood, which is why they are constantly investigating treatments and seeking help everywhere they can.

As Sebastian's T-cell count has been dropping, his mother fears if some sort of action isn't taken soon his health could quickly decline.

After learning of a gene therapy clinical trial in Milan, Italy, the Westfalls applied for inclusion.

Sebastian has been accepted, and the family is planning to travel to Milan in April, where they must stay for approximately six months for the treatment.

Although a portion of the treatment is covered by grants and the Westfalls are hoping their health insurance will cover some of it, they are still going to need money.

"It's going to cost quite a bit of money to go to Italy, and we don't want to put more stress on Sebastian's parents," says Jones, who is hoping to raise money to defray the $60,000 they expect it will cost to cover whatever insurance doesn't, as well as the cost of the trip and living expenses.

Jones started her fundraising by crocheting scarves she's been selling to friends for $25 each and depositing proceeds in the bank account she set up for donations.

After her husband, Doug Jones, hosted an open house at his Mortgage Magic office on The Alameda, Jones says, "I thought maybe we could do a fund-raiser at his office."

Jones and her sister, Gerda Weber, started working on it and are now hoping at least 200 people attend their party on March 8.

Marlies de Veer and Amy Beasley, singers and guitarists who perform as Blue House, are entertaining for free that evening.

Elegant Events Catering on The Alameda is providing hors d'oeuvres at a discount.

Jones says it's necessary for both parents to go with their son, and she's trying to ease stress over money.

"This gene therapy is so experimental, they've only done 10 children. These doctors have had a pretty good success rate, but they don't know if it will be a cure or not. Sebastian is going to need both of his parents," Jones says.

Westfall says, "If this doesn't work, Sebastian will continue his treatments, and then his life expectancy wouldn't be very long. They can't tell us how long. Each child is different, but to be honest, my husband and I have talked about it and our feeling is it probably wouldn't be even three more years," she says.

"It's taking it a day at a time and trying to make our lives as normal as possible."

Westfall says she regrets that her son can't attend the party in his honor.

"Sebastian loves parties; he's very social," she says.

"We won't be at the event, but I'd like to let people know we're extremely grateful for their support. We can't thank them in person, but we will be there in spirit."

The Sebastian Westfall Fundraiser is 5:30 to 8:30 p.m. March 8 at Mortgage Magic, Suite 900, 1625 The Alameda. The event will include live music, hors d'oeuvres and a silent auction. Tickets are $40 per person. Reservations: Trudy Jones by email to tjones4377@aol.com or phone 408.242.4530. For additional information on Sebastian, visit www.sebastiansspace.blogspot.com. Contributions can also be made to the Sebastian Westfall Fund, c/o The First Republic Bank, 1625 The Alameda, Suite 100, San Jose, 95126.

Linkback URL: http://community-newspapers.com/rose_garden/news2.shtml

Family rallies behind toddler

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

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

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

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

MyFox WGHP | Family Keeps Child in Virtual Bubble

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'

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/
bubble_boy_070219/20070219?hub=Health&s_name=

Boy in bubble inspires donors

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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Calgary's 'boy in bubble' awaiting surgery

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

linkback url: http://www.canada.com/theprovince/news/
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Please Help Baby Caden Atchley

Please Help Baby Caden Atchley
From LiveJournal by levismommy

IM BACK FROM WASHINGTON BUT I DONT HAVE TIME TO UPDATE RIGHT NOW. LOTS OF PICS LATER BUT FOR NOW I WANT TO LET YOU ALL KNOW ABOUT THIS BABY IN THE TOWN WHERE MY BROTHER LIVES, I AM HOPING SOMEONE CAN HELP HIM AND HIS FAMILY.


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

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

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

http://www.caringbridge.org/cb/viewMyStory.do?method=executeInit

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

Repost this and maybe someone in your town can help.

Mandi

EDIT: I JUST REALIZED THAT THE LINK I HAVE UP ABOVE DOESNT WORK. TO VISIT HIS PAGE GO TO http://www.caringbridge.org/ AND CLICK ON VISIT ON THE TOP RIGHT CORNER. ONCE YOU DO THAT YOU TYPE IN cadenatchley IN THE SPOT FOR SITE NAME FOR THE TOP LINK. LET ME KNOW IF YOU HAVE ANY PROBLEMS.

I AM REPOSTING THIS TODAY CAUSE OF THE UPDATE.

Linkback URL: http://levismommy.livejournal.com/49792.html

He lacks immune system, but local boy full of life

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

He's the boy jumping off the coffee table.

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

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

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

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

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

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

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

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

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

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

But that's not how his parents see it.

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

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

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

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

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

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

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

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

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

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



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