Edgar toddler first ‘bubble boy’ survivor

Edgar toddler first ‘bubble boy’ survivor

State-mandated test at birth identified fatal disease

By Megan Loiselle
Wausau Daily Herald

EDGAR — A 1-year-old Edgar boy has become the first child in the world to be saved from a fatal immunodeficiency disease, just months after Wisconsin became the only state to test for it at birth.

Dawson Bornheimer’s family on Sept. 25 celebrated the first anniversary of a lifesaving bone marrow transplant that treated his Severe Combined Immunodeficiency, or SCID — also known as “bubble boy disease.” The disease is fatal if not treated in the first few months of life.

The state’s pilot program for the screening was funded in part by the Jeffrey Modell Foundation, established by Vicki and Fred Modell in memory of their son who died at age 15. Dawson was honored as the “man of the year” by the foundation at a gala this spring in New York. The screening now is routine for the estimated 70,000 births in the state annually.

“They caught it, and because of that, we get to play with you every day,” his mother, Melissa Bornheimer, said during an interview at her home, as she patted Dawson’s leg.

Twelve days after Dawson was born on June 12, 2008, the Bornheimers received a call saying he had failed the test for SCID — a test they didn’t even know he had been given.

Melissa said at first she thought the test had to be wrong because Dawson seemed fine.

Hours after the call, the Bornheimers took Dawson to the hospital with a fever. He was released with what doctors said was a viral infection. Days later, his belly button became infected so badly that it had to be removed at a hospital in Madison.

In a span of a few weeks in August, Dawson was checked into the Children’s Hospital of Wisconsin in Milwaukee for a blood transfusion as well as surgeries to remove abscesses growing on his neck and to fix a hole in his trachea. Test results showed his bone marrow wasn’t producing white blood cells strong enough to attack infections in his body. The only cure would be a bone marrow transplant.

On Sept. 25, 2008, he received the transplant, with marrow donated from a baby in Germany. Some of Dawson’s vital organs shut down as his body struggled to adjust to the donor’s marrow, but Melissa said his body eventually accepted the bone marrow.

One year after the transplant, Dawson still has 100 percent of his donor’s bone marrow, which means chemotherapy he received last year was successful in eradicating all of his own bone marrow.

Melissa, 35, said the couple had great health insurance through Mike’s work as a material handler at Wausau Supply Co. It allowed the family to focus on Dawson rather than worrying about his $1 million in treatment costs.

Today, Dawson often crawls around the floor and plays at home with his 9-year-old brother, Dylan. Dawson will start walking soon.

His grandmother Ione Bornheimer of Athens said every time she and her husband, Harvey, visit, they see more improvements.

“He’s making big strides,” she said. “It has been very hard on the family but he’s our little miracle baby.”
linkback url: http://www.wausaudailyherald.com/article/20091008/WDH0101/910080625/1981/WDHopinion

‘Olivia’s Fund’ gets barbecue boost

‘Olivia’s Fund’ gets barbecue boost

The Silliker family and supporters are grateful to the community for its support. As a result of that support, Olivia Silliker’s (small photo) future is considerably brighter following a bone marrow transplant courtesy of her four-year-old sister Mackenzie.

Community support

Family and friends of Olivia Silliker are overwhelmed by the community spirit and generosity displayed at a fund-raising barbecue outside Chrissy’s Variety Store.

The recent barbecue raised $1,500, for which the family and supporters wished to express thanks from the bottom of their hearts.

Olivia was born June 9th to parents Mark and Anna and hospitalized August 5th with a diagnosis of ADA SCIDS (Severe Combined Immunodeficiency). In layman’s terms, the rare (one in every two million births) condition means her immune system does not function properly, and a common cold can be deadly

Treatment for ADA SCIDS is a bone marrow transplant.

The immediate family was tested and a perfect match found in Olivia’s four-year-old sister Mackenzie. One week after admission to Sick Kids hospital in Toronto, the transplant took place with the support of a very brave older sister. Mackenzie has since recovered from the procedure and attended her first day of school September 22nd.

Olivia remains in Sick Kids, in an isolation room, which filters air 500 times per hour. To interact with Olivia, her family needs to protect her from germs by using sterile gowns, gloves, hairnet, boots and masks.

It is unknown how long she must be in the hospital, but her family has been told to prepare for a lengthy stay. Olivia’s blood is taken regularly to ensure her white blood cells are increasing and tests are done to determine whether the bone marrow transplant was a success. She will not be released until it is positive that she has developed an immune system and will be able to fight infection on her own.

In the interim, Anna’s desire to remain with her daughter is being challenged by financial realities. Her maternity leave from a subsequently-closed plant (DDM) will come to an end, highlighting the additional financial pressures of living costs and travel expenses exacerbating the family’s natural stress caused by their daughter’s medical challenges.

Fund-raising efforts have been organized, including the barbecue, in order to provide financial assistance for Anna to stay by Olivia’s side through accommodation at Ronald McDonald House in Toronto, as well as with monthly bills and everyday living expenses.

“I would rather sell my house than leave her there all alone,” said Anna.

Additional fundraisers will occur over the next few months, however friends and family are encouraging the public to donate whenever possible to assist the Silliker family.

Donations can be made at St. Mary’s Roman Catholic Church in Tillsonburg. Cheques are to be made payable to St. Mary’s RC Church specifying that the donation is for “Olivia’s Fund” and a tax receipt will be issued.

linkback url: http://www.tillsonburgnews.com/ArticleDisplay.aspx?e=2047035

The Second Coming of Gene Therapy

The Second Coming of Gene Therapy
09.02.2009
For years, gene therapy produced tons of hype but no results. Recently, though, new approaches have yielded its first successes: breakthrough treatments for blindness, cancer, and the deadly bubble boy disease.
by Jill Neimark

“For the first two years of her life, my daughter, Katlyn, was knocking on heaven’s door every day,” says Daisy Demerchant, a 26-year-old mom living in Centreville, New Brunswick, just north of Maine. “Two months after she was born she started getting sick, and she never got better.” At six months Katlyn was diagnosed with “bubble boy” disease, formally known as severe combined immunodeficiency (SCID), which robs the immune system of the ability to fight infection. There are many causes of this disorder; in Katlyn’s case it was lack of the enzyme adeno­sine deaminase, or ADA, which rids the body of a natural toxin called deoxyadenosine. When the toxin builds up, it destroys T and B lymphocytes, the body’s infection-fighting immune cells. As a result, Katlyn’s immune cells were dying.

Treatment options ranged from risky to grim. One was a bone marrow transplant, in which imported donor cells could manufacture healthy T cells to fight invading germs. But bone marrow transplants can have lethal complications and often require drugs that further inhibit the patient’s immune system, leaving a window of vulnerability until the transplant kicks in. Another potential treatment involved injections of the ADA enzyme itself. But there was a risk Katlyn would develop antibodies to the drug, rendering it useless. Without any treatment at all, she would simply die.

While weighing their options, doctors put the little girl on protective antimicrobials and sent her to a hospital eight hours from her home. She became another fragile bubble baby sequestered from the world. “My husband quit his job building fire trucks, and we lived with Katlyn in the hospital for 15 months,” Demerchant says. The parents had to wear sterile gowns, booties, masks, and gloves, and the urge to touch their child—let alone hug and kiss her—had to be put on hold.

Just when it seemed as if Katlyn’s life might never improve, science and fate intervened. Her specific condition, called ADA-SCID, had long tantalized researchers seeking to repair genetic defects with a technique called gene therapy. Rare, deadly, and caused by a single gene mutation, it was a perfect proof-of-principle condition for anyone seeking to replace damaged DNA with genes that did the job. With all her troubles, little Katlyn Demerchant had been almost made to order for Fabio Candotti, a senior investigator at the National Human Genome Research Institute at the National Institutes of Health in Bethesda, Maryland.

Before Katlyn showed up at NIH, the doctors there were already well prepared: They had inserted healthy human ADA genes into a modified mouse retrovirus—a type of virus that can enter human cells and transfer new genetic material right into the DNA strands in their nuclei.

Once Katlyn arrived in May 2007, Candotti and his team removed stem cells from her bone marrow and exposed them to the engineered retrovirus, creating a human-virus hybrid. Then they injected the hybrid cells back into Katlyn. Like heat-seeking missiles, the retooled stem cells automatically found their way back home to the marrow. There, they began to specialize, creating all of the secondary or “daughter” cells that such stem cells normally produce—including healthy T cells with functioning ADA genes.

Everybody waited while Katlyn, still stuck inside the bubble, learned to walk on the floor of her sterile isolation room and to play through the protective window with a visiting dog named Toffee. On September 3, blood tests showed Katlyn’s immune system was being populated with robust, functioning T cells. She was so restored, in fact, that her parents were able to take her outside for the first time since she was an infant. “The first day we took her out she was really quiet and a little terrified,” Daisy Demerchant says. “The second time she started running around and asking us a million questions. She’d point to the sun, clouds, leaves, cars, everything imaginable, and ask us what it was. Ever since that day, she has never wanted to stay inside.”

Six months after her gene therapy transplant, Katlyn was so healthy that doctors let her return home to Canada. It can take a year or longer for the immune system to reconstitute itself in full, so Katlyn still takes antimicrobials as a precaution, but today she plays outside, even in the dirt, and is resistant enough to fly on a commercial plane.

The new DNA treatments for Katlyn Demerchant and other bubble babies are nothing short of remarkable, the culmination of a major push to perfect gene therapy for the disease, Candotti says. Across the ocean, in Italy, bubble babies with ADA-SCID are also being cured: A trial led by Alessandro Aiuti, a molecular biologist at San Raffaele Telethon Institute for Gene Therapy in Milan, restored the immune system in eight of ten children, while a ninth had significant improvement.

And bubble babies are far from alone. In Europe and the United States, gene therapists have restored vision in individuals suffering from a rare genetic disorder that inevitably leads to blindness. In Texas, a team has manipulated genes in order to put deadly cancers into complete remission. Building on these successes, gene therapy may soon be used to correct hereditary genetic diseases like cystic fibrosis, hemophilia, and Tay-Sachs and to activate the immune response against a wide variety of infectious diseases and cancers. Gene therapy and its adjuncts may help us trick the body into growing new tissue to rejuvenate arthritic joints, fix injured hearts, and speed the healing of wounds….Continued

link url: http://discovermagazine.com/2009/sep/02-second-coming-of-gene-therapy

Campers aid area toddler

The Jeffery family is giving thanks to their newfound friends, many of whom they’ve never met.

Indeed, most of the Jefferys’ supporters are members of the Bluewater Campers’ Association, which recently presented the St. Joseph’s family with a $7,200 donation, the second of such gifts since the club first heard of the family’s plight three years ago.

“I can’t tell you what this means for our family,” says Dennis Jeffery. “This will help a lot.”

And help is what the Jefferys need as their youngest son, three-year-old André, continues with his valiant battle with Severe Combined Immunodefiency Disease (SCID), an autoimmune disease that leaves him vulnerable to a host of life-threatening illnesses and renders most of his life to the confines of what is commonly known as a plastic bubble.

André was first diagnosed with the disease at the age of four months when the Jefferys brought him to see a Stratford doctor as the baby was covered in a rash that looked like he’d been splashed with scalding water.

André has been in and out of hospitals ever since.

Most recently, the sweet-cheeked young lad with soulful brown eyes, suffered cardiac arrest, his second one due to the havoc the 34 medications medications he takes daily are wreaking on his organs.

André is now at Sick Kids’ Hospital in Toronto where his mom, Sheila, keeps vigil as the rest of the family including seven-year-old sister, Monica, and nine-year-old brother, Donavon, hold down the fort in St. Joseph’s.

Naturally, notes Dennis, the emotional, financial and physical toll of André’s plight is difficult on everyone, especially André’s siblings who must spend a lot of time away from their beloved parents who, for a time, were at André’s bedside 24 hours a day.

“It’s hard to keep everybody together,” notes Dennis. “It’s been a difficult experience. I wouldn’t wish it on my worst enemy.

And when André and his mom are able to return home, the family will once again face the additional expenses of bringing Registered Nurses in to assist with his care. Plus, only 27 of the medications André requires are covered by OHIP.

At a recent meeting at the Bluewater Campers’ meeting room, club members presented the family with the $7,200 donation, as well as $50 gift certificates for Monica and

Donavon and a stuffed animal for André. It was clearly a proud night for members as one organizer put it: “For such a small number of people, this is an amazing amount of money.”

While learning André is currently grappling with kidney problems as he recovers from cardiac arrest, the Bluewater Campers vow to continue to help where they can – even though most of them were meeting Dennis, Monica and Donavon for the first time at the cheque presentation.

“It’s going to help me large,” says Dennis, who notes there are many changes on the horizon for the Jefferys including the possibility that they will have to sell their St. Joseph’s home, a community where both Dennis and Sheila hail from, and move to Toronto to ensure Andre continues to receive the treatment he needs.

Club member Deb Jeffrey, in thanking the campers, note the relatively small park – at 140 trailers – has raised nearly $20,000 in the past three years for the Jefferys and other community-based causes including $3,000 for Habitat for Humanity and $2,500 for the CT Scanner campaign at Alexandra Marine General Hospital in Goderich last year, and about $3,000 for the Jefferys two years ago.

The fundraising events, note organizers, were made possible through a slew of events, including silent auctions and golf tournaments with prizes donated by a vast number of area businesses and community groups. A special cake made each year proves to be a hot ticket item as well as it raised $350 during the first year, $550 the second and $1,400 this year.

linkback url: http://www.clintonnewsrecord.com/ArticleDisplay.aspx?e=1716515

Mother’s tribute to hospital

Mother’s tribute to hospital

(UKPA) – Sep 1, 2009

When it was suggested that her very sick daughter have a new bone marrow transplant procedure at Great Ormond Street Hospital (GOSH), Louise Moseley said she was just relieved that Ffion was not the first.

“I would have been more sceptical if she had been the first but other parents had been brave enough to say yes. She was so poorly we just thought that it had to be done.”

Ffion was just three weeks old when she developed skin problems that were so serious that she was regularly in hospital.

It was initially thought to be dermatitis but when Ffion was transferred to the Singleton Hospital in Swansea it was suggested the condition was likely to be caused by a problem with her immune system.

Ffion was three months old when she was diagnosed with the genetic condition Omenn Syndrome, a severe combined immunodeficiency (Scid), and admitted to GOSH.

“All I heard was ’she needs a bone marrow transplant. It’s a fatal condition’,” said Mrs Moseley, 30, of Pembroke Dock, Dyfed. “It was a complete shock. I’d never heard of it because it’s such a rare condition.”

Too sick to have the chemotherapy needed for a conventional transplant, Ffion was given the new procedure using antibodies to prepare her for the transplant which she had aged five months.

Although she suffered complications afterwards, including Graft Versus Host Disease (GVHD) where the body attacks the transplanted tissue, Ffion was well enough to go home three months later and now only needs an annual check up.

“Not only did the BMT save Ffion, but her skin is now beautiful. You’d never know she is the same child that was so desperately ill in the past,” Mrs Moseley said.

linkback url: http://www.google.com/hostednews/ukpress/article/ALeqM5im-K_CuOAjzgPmt75ziH1skVSAVA

‘She’s our little miracle’

‘She’s our little miracle’

Published Date: 17 July 2009
Dressed in pink from head to toe, two year-old Eva McLaughlin skips across the kitchen floor pushing a yellow toy shopping trolley.
“I’m going to the Spar,” chirps the blonde-haired Magilligan girl.
Seconds later, she sits by her pink toy piano and tells mum Cathy: “I’m going to play a song.”

Moments later Eva is off again, this time down the hall chatting.
Anyone meeting Eva for the first time would think she is just an ordinary toddler, full of energy and into everything.
But Eva is anything but ordinary.

“She’s a miracle, she really is,” says Cathy.

Eva was born with severe combined immune deficiency syndrome (SCID), a condition which means she had no white T blood cells which provide natural resistance against infection. Without these, infections spread and can be fatal.

At first, mum Cathy and dad Ryan had no reason to suspect anything was wrong with Eva but when their baby girl couldn’t shake coughs and infections, they knew something was wrong.

“It just wasn’t shifting,” recalls Cathy, explaining the weekly trips to the doctor.

On December 5, 2007, Eva became very ill, struggling for breath. The tot had severe pneumonia.

She was taken to the Royal Victoria Hospital in Belfast for a week where she was kept alive by a ventilator supplying her with life-saving oxygen.

“It was horrific, just complete panic,” says Cathy. “It was so hard to see and look at her in intensive care. She was just lying there.”
Miraculously, Eva was able to come off the ventilator within days. She was taken to Newcastle General Hospital for a bone marrow transplant after a match for her was found by the Anthony Nolan Trust in the USA.
“It was the only chance she had. The bone marrow transplant was the only thing she had to keep her alive,” says Cathy.

Prior to the transplant, Eva underwent eight days of gruelling chemotherapy.

“It was when her hair fell out and I picked it up from the pillow; that was just horrific,” says Cathy.

Just one day after her first birthday, Eva had a rest day. The next day she had the transplant and Cathy and Ryan were told they could not touch their child.

“They said if you kiss that child it could kill her,” recalls Cathy. “It was awful but it needed to be done but knowing I couldn’t even kiss my own daughter was hard.”

When Eva was in hospital, she lived in a tightly-controlled, 8ft x 8ft “bubble” to avoid threats to her non-existent immune system.
Almost 10 stressful months later, Eva and her parents were finally ready to go home.

“Eva was so near death and I wouldn’t wish it on anyone,” says Cathy, reflecting on the ordeal. “The doctors here and in Newcastle are miracle workers. What they did for Eva was unbelievable. It’s just unreal, just the most unbelievable experience. We handed our daughter over to the doctors and said: ‘Please cure her’.”

The trip home was an emotional one for Cathy and Ryan but the close-knit community lined the country road where they lived, wishing them well.

“Everyone was cheering and waving,” says Cathy. “Magilligan is a brilliant community. We had a brilliant reception.”

‘Lucky’

Cathy and Ryan travel to Newcastle on Monday for a check-up on Eva’s progress. They are hoping for an easing of restrictions on things she hasn’t been able to do before, like go to the beach or the zoo.
“The way Eva looks now compared to before is unreal,” says Ryan. “People can’t believe how she’s come on, running about like any other wee child. Looking back on it now with some perspective, you think, ‘We were lucky’.”

Cathy adds: “She’s a miracle, she really is.”

The family want to raise as much awareness as possible for the Anthony Nolan Trust and the Bubble Foundation and with the help of their close knit community have already raised almost £6,000 for research.
“Thank God Eva is here, and every day she’s going from strength to strength. It is a miracle,” adds Cathy.

For more information or to make a donation, go to www.anthonynolan.org.uk and www.bubblefoundation.org.uk

linkback url: http://www.derryjournal.com/journal/Shes-our-little-miracle-.5469463.jp

School helps ailing toddler

School helps ailing toddler
May 27, 2009 12:36 am

By CATHY DYSON

Mountain View High School has used its connections, near and far, to pull together a fundraising event that includes autographed items from NASCAR driver Jeff Burton and tennis champion Venus Williams.

The Stafford school plans a gift-card bingo at 7 p.m. Friday to raise money for Olivia Werner and her family. Included in the bingo, which costs $10 per person, are several raffle items from Burton, including gloves he wore during a race, said Cassie Dye, the school’s attendance officer.

“Jeff Burton has sent us a ton of stuff,” she said.

There’s also a signed shirt from Williams and baseball items from John Maine, a Stafford County native and pitcher for the New York Mets.

The raffles and bingo will benefit the medical fund of Olivia Werner, the 17-month-old daughter of Mountain View teachers Doug and Katie Werner. Olivia has severe combined immunodeficiency syndrome, a disease which takes away her ability to fight off bacteria and infections.

Olivia and her mother moved to Durham, N.C., last fall so she could be treated by doctors at Duke University Medical Center. Olivia needed a bone-marrow transplant, and her mother was a match.

The family found out last month that the transplant didn’t work. Doctors have recommended a booster bone marrow transplant, scheduled for June 16, using her father’s stem cells.

The procedure will begin another six-month wait for the Werners, as it takes that long to see if her immune system responds. During that time, Olivia and her mother will stay in isolation in North Carolina to avoid possible infection.

Katie Werner worked a few weeks when the school year started and has been on leave ever since. She’s gotten paid regularly, Dye said, because co-workers donated their sick time to her account.

The Mountain View family also has scheduled various events and fund-raisers to help the Werners throughout the year. Teachers and staff members were devastated to learn that Olivia needs another transplant.

“It just breaks your heart,” Dye said. “But we’re all feeling optimistic that this one will take. Olivia is a tough little cookie.”

Cathy Dyson: 540/374-5425
Email: cdyson@freelancestar.com

linkback url: http://fredericksburg.com/News/FLS/2009/052009/05272009/468868

Family’s blood clinic inspires public to give

Family’s blood clinic inspires public to give
By DAVE DORMER, SUN MEDIA

In memory of his son, Evan, Frank Pogubila is asking Calgarians to give a gift that is literally straight from the heart.

Two years after Evan died at age 13 months following complications from a bone marrow transplant, Pogubila, wife Melanie and their daughter Jordan held the third annual donation clinic yesterday in Evan’s honour — the first held just before his transplant surgery — reminding Calgarians about the need to donate blood.

“It makes me feel good that we’re able to rally people to give back, because no matter how much money I have, no matter how much of anything I have, I cannot buy blood and blood products to give back,” Frank said at the Calgary Blood Donor Clinic yesterday.

“Basically it’s in you to give and the support we’ve seen has been awesome.”

Born with severe combined immunodeficiency, or SCID, Evan spent most of his short life in isolation in hospital — as he could not have skin-to-skin contact — where he regularly received blood transfusions to help his weakened immune system.

Performed in Toronto, the transplant was a success but Evan developed complications and died two months later.

“What really means a lot to myself and my family is when we hear people saying that because of a clinic like this, they joined the bone marrow registry and they have gotten calls and they have gone down the path of seeing whether or not they were a match,” said Frank.

“The more people we have in the system, the better chance someone like Evan or another little person who unfortunately needs it will have the opportunity of life.”

Each week, at least 1,500 units of blood need to be donated in southern Alberta, said Judy Jones, director of donor services at the clinic.

And each donation could save up to three lives, said Jones.

“One donation is one unit,” she said.

“Once they’re done, they go up to the lab and they are separated into three components, red blood cells, plasma and platelets.”

Another clinic is being held April 25 in Evan’s honour at the Calgary Blood Donor Clinic, 737 13 Ave. S.W.

For more information, call 1-888-236-6283 or visit www.blood.ca.

DAVE.DORMER@SUNMEDIA.CA

linkback url: http://calsun.canoe.ca/News/Alberta/2009/03/29/8924611-sun.html