School helps ailing toddler

May 27, 2009

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

April 29, 2009

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


David’s Dream Run Moves to Bubble Boy’s Hometown

April 17, 2009

David’s Dream Run Moves to Bubble Boy’s Hometown

SHENANDOAH, Texas — David Vetter was twelve years old when he died in 1983 of severe combined immune deficiency (SCID). This young boy from Shenandoah, Texas was known to the world as “the Bubble Boy” and lived his entire life inside a totally germ-free environment. In honor of his memory, the annual David’s Dream Run and Walk was established to help raise money for the David Center at Texas Children’s Hospital’s Allergy and Immunology Clinic, which provides diagnosis and treatment to children with allergy, asthma and primary and secondary immune dysfunction, including HIV/AIDS. The event will be held on Saturday, May 9, 2009.

This year for the first time, the event will be held in David’s hometown. It will start in the parking lot of the new Woodforest Bank Stadium and adjacent natatorium located in Shenandoah behind the Portofino Shopping Center and proceed along David Memorial Drive before returning to the finish line at the stadium. The facilities were opened last year as part of the Conroe Independent School District athletic facilities.

David’s sister, Katherine Vetter Canion expressed the town’s appreciation when she learned the event specifically designed for children and families would be held in Shenandoah. “It’s a home coming we’re so very proud of,” she stated. “The people who knew my brother best and who for years protected his privacy and last name can now be a part of his incredible legacy. It’s very humbling for my mother, father and me and our families, and we are so grateful for the work of all the folks at Texas Children’s Hospital. They will always be very special to us,” she said.

Since 1994, David’s Dream Run has raised over $260,000 for Texas Children’s Hospital. Last year, more than 700 participants and dozens of volunteers took part in the David Dream Run which will consist of both a one mile walk and a 5K run. It is specifically designed for the participation of families, as well as seasoned runners.

This year’s organizing committee consists of Linda Woods, Director of Shenandoah Convention & Visitors Bureau; Lee Allen, Principal of the David Elementary School in The Woodlands; Michelle Barrell and Melissa Wolsky, race volunteers for many years; Brian Carlisle of Shenandoah Police Department; and Katherine Vetter Canion, David’s sister.

All contributions are tax deductible and 100 percent of the funds raised will be donated to the David Center. For more information on how to participate in the David Dream Run and Walk, telephone 281 381-7229 or visit the Web site at the link below.
Related Links:
David’s Dream Run Web site


Analysis: Gene therapy has immense potential

April 14, 2009

After almost two decades, gene therapies have recently started to deliver on their immense promise

Gene therapies have been a part of medicine for almost two decades. Only recently have they started to deliver on their immense promise after a string of setbacks raised doubts about the safety of manipulating human DNA, centre, to treat disease.

The idea behind gene therapy is that by inserting new copies of a particular gene into human cells, it should be possible to correct defects, or to enhance beneficial biological processes. This can be done with viruses, which introduce their own genetic material into the cells they infect, and can be engineered to carry a human gene.

This technique was first performed successfully in 1990, when an American team used it to treat Ashanti de Silva, a four-year-old girl with severe combined immune deficiency (SCID). This genetic disease leaves children without a functioning immune system — it is known as “bubble baby” syndrome because sufferers must often be shielded from germs in a sterile pouch. The technology, however, has since encountered several problems. In 1999 Jesse Gelsinger, an 18-year-old with an inherited liver disease who had volunteered for a gene therapy trial, died after suffering a massive immune reaction to the viral vector. Further safety fears were then raised when five children in an Anglo-French trial of a SCID gene therapy developed leukaemia because the viral vector interfered with a gene that can trigger cancer.

Gene therapy has also failed, so far, in the treatment of diseases such as cystic fibrosis: these affect so many of the body’s tissues that it is difficult to infect all the cells that need to be corrected. And there are ethical concerns about using gene therapy to modify cells permanently, especially if these changes can be passed on to subsequent generations..

New viral vectors, however, have lowered the risk of immune reactions and inadvertent activation of cancer genes. Many of these also work only for a short period of time, so any damaging effects should be reversible.

Several trials have also started to produce extremely encouraging results. The Anglo-French SCID therapy, which now uses a new vector, seems to be capable of curing the disease indefinitely. Another UCL team, led by Robin Ali, has improved the sight of patients with Leber’s congenital amaurosis, a genetic cause of blindness. Cerepro, an Ark Therapeutics drug that uses the same vector as the foetal growth promoter, has had good results against brain cancer.

What links these success stories is that they involve diseases that affect a particular type of tissue, such as white blood cells or retinal cells, which are relatively simple to target for infection with a modified virus. Severe foetal growth restriction falls into the same category: it should only be necessary to influence the uterine arteries to get a result.

The dream of using gene therapy to treat more systemic diseases such as cystic fibrosis, muscular dystrophy or spinal muscular atrophy, however, remains more distant. The challenge of conveying the replacement gene to cells throughout the body is one that still has to be overcome.

Mark Henderson’s 50 Genetics Ideas You Really Need to Know. Quercus £9.99. To buy it for £9.49 inc p&p call 0845 2712134 or visit timesonline.co.uk/booksfirst

linkback url: http://www.timesonline.co.uk/tol/news/uk/science/article6088172.ece


Blood donor clinic honours Calgary’s “Bubble Boy”

March 28, 2009

Blood donor clinic honours Calgary’s “Bubble Boy”

Updated: Sat Mar. 28 2009 16:47:48

ctvcalgary.ca

A Calgary family and Canadian Blood Services teamed up Saturday to hold a special blood donor clinic.

It’s the third time Frank and Melanie Pogubila have held a clinic honoring their son Evan.

Evan died on June 26, 2007 at the age of 13-months after complications following a stem cell transplant. The toddler had a rare immunodeficiency disease called Severe Combined Immunodeficiency (SCID), which is commonly referred to as “Bubble Boy Disease”.

The Pogubila’s saw first hand the need for blood during Evan’s battle with SCIDs. He spent most of his young life in hospital and received many blood products and a stem cell transplant as part of his treatment.

On Saturday, more than 120 people answered the call to donate blood in honour of Evan. The response was so great, that another clinic has been scheduled for Saturday, April 25 at the Calgary Blood Donor Clinic located at 737-13th Avenue SW.

Canadian Blood Services says half of Canadians are eligible to give blood, but only one in 16 actually do it. To book an appointment, call Canadian Blood Services at 1-888-2-DONATE (1-888-236-6283).

Visit One Match for more information on becoming a potential stem cell donor.

linkback url: http://calgary.ctv.ca/servlet/an/local/CTVNews/20090328/CGY_blood_clinic_090328/20090328/?hub=CalgaryHome


A doggone good party

March 22, 2009

A doggone good party

Boy who recovered from illness celebrates 10th birthday by helping animals

By Jewell Cardwell
Beacon Journal columnist

Published on Sunday, Mar 22, 2009

”To whom much is given much is expected.”

That’s the strong message Teri and Bob Peters — formerly of Akron, now of Wadsworth — have been quietly feeding their two sons over the last few years.

You’re never too young to learn it and adopt that as your mantra for living, the couple says.

Saturday the Peterses saw it take root.

What more appropriate time than at their younger son Matthew’s 10th birthday party (his birthday is today)?

Matthew invited a dozen friends and his 12-year-old brother, Ben, to his Give Back/Pay It Forward birthday party.

Instead of gifts for Matthew, guests were asked to bring a gift for a dog (toys, food, bones, leashes and collars). Matthew said he devised that plan ”because I already have all the toys I need.”

”Matthew chose the . . . rescue service Save Ohio Strays, where he had adopted a dog, Silo, a black Lab mix, last year on his birthday,” his mother said.

The Wadsworth-based agency is a not-for-profit organization that rescues, cares for and places animals.

His pals complied big time.

After the ice cream and cake and a battery of games, including one that had them all barking, the partygoers received a surprise visit from a posse of puppies (boxer mixes and miniature schnauzer mixes) from Save Ohio Strays.

More about that in a moment.

Medical miracle

I met Matthew, this amazing little dark-eyed boy, through photos and his mother’s letters a short time after he was born.

Many of you may recall meeting him in this space and connecting with his family through prayer.

For it was a truly frightening and challenging time for his mom and dad.

Matthew was diagnosed at birth with the rare severe combined immunodeficiency disorder (SCID), which meant his body lacked the life-saving T-cell and B-cell functions in the immune system.

It was the exact same medical anomaly that claimed the lives of his brother, Andrew, at 7 months of age in 1998, and a Texas boy, David Vetter, who was known as the ”boy in the bubble” because he lived inside a plastic enclosure until his death in 1984.

So, Matthew and his parents were flown to the Duke University Medical Center in Durham, N.C., where baby Matthew underwent intensive treatment, including a lifesaving bone-marrow transplant, compliments of his mother.

A few months later, with his life still hanging in the balance, Matthew underwent a liver transplant, also courtesy of his mother, at Children’s Memorial Hospital in Chicago.

Of course, it was touch-and-go for a long time, as Matthew was in critical condition more times than his parents care to remember. And the list of medicines, including steroids, was enough to boggle the mind.

The Peters family credits both the amazing medical care and the collective prayers their son received for his miracle.

In one of the many letters Teri Peters wrote during that scary time, she had this to share: ”We have been repeatedly touched by the kindness of your readers.”

She cited the fundraiser that Kim and Jayne, co-owners of KJ’s Hair Classics in Cuyahoga Falls, organized. It resulted in 180 cards filled with love, prayers and gifts of money to help with Matthew’s expenses.

”We are overwhelmed by the generosity people continue to show us,” she wrote, noting she is keeping every card. ”One of these days, when Matthew reaches an age of true understanding, I will present them to him.”

It was nearly two years before Matthew would get the green light to go home.

So, understandably, every birthday is a real celebration of life.

”With the love and support of family and community and the excellent medical care he received both out of state and here at the hematology/oncology department at Akron Children’s Hospital, Matthew is a healthy and typical soon-to-be-10-year-old boy,” his mother noted.

”I have often thought about writing a book — what a story to tell. . . . We have developed dear friendships with a few of the people who wrote to us while we were in Durham, including one very, special lady — Ruth Jones — who ended up stopping by our house one day after we had come home.

”She came by for regular visits. Bob and I had been praying about finding someone to sit with the boys a few hours a week so I could have a little time out of the house; this was when Matthew was still in isolation. Ruth was God’s answer to prayer; she came faithfully every Tuesday for almost four years and sat with the boys all day while I grocery shopped, ran errands. . . . Ruth never accepted a dime. We still keep in touch with her. She is the boys’ adopted grandmother!”

Celebration of life

Back to the party.

Ron Kilchenman, public relations coordinator for Save Ohio Strays, came bearing a raft of gifts for Matthew and Ben and their guests: T-shirts and calendars.

But nothing more pleasurable than cuddly puppies who are in foster care and ready for adoption.

The gifts turned over to Kilchenman’s group will be used to help defray the expense of keeping the puppies in foster care.

The irony here is that Matthew, who himself escaped death several times, is now in the position of helping some defenseless animals do the same.

Brother Ben, who turns 13 on May 10, is busy deciding how he, too, will use his big day to pay it forward. Should be very interesting.

Ironically, Matthew is free of all medications. He doesn’t even have to take anti-rejection medicines that most organ-transplant patients must have for the rest of their lives.

His life is a miracle any way you look at it.

And for that, his family gives total praise to God and to the many angels here on Earth.

For information about Save Ohio Strays, please visit http://www.saveohiostrays.org. Jewell Cardwell can be reached at 330-996-3567 or jcardwell@thebeaconjournal.com

linkback url http://www.ohio.com/news/41643692.html


AAAAI: Rotavirus Vaccine May Cause Infections in SCID Kids

March 19, 2009

AAAAI: Rotavirus Vaccine May Cause Infections in SCID Kids

By John Gever, Senior Editor, MedPage Today

Published: March 18, 2009

Reviewed by Dori F. Zaleznik, MD; Associate Clinical Professor of Medicine, Harvard Medical School, Boston.

WASHINGTON, March 17 — The rotavirus vaccine recommended for all infants can cause infection in babies with severe immunodeficiencies, a researcher said here.

Two infants receiving the first two of three scheduled doses of the live, attenuated-virus rotavirus vaccine (RotaTeq) developed infections traced to the product, according to Niraj C. Patel, M.D., of Baylor College of Medicine in Houston.

After the babies were hospitalized with diarrhea and other symptoms consistent with rotavirus infection, it was discovered that they had severe combined immunodeficiency syndrome (SCID).

These are the first reported cases of infection caused by the rotavirus vaccine, which was approved in 2006, Dr. Patel said in a late-breaking research session here at the American Academy of Allergy, Asthma, and Immunology meeting.

Dr. Patel said molecular analyses showed that the vaccine caused the infections. All the attenuated virus strains used in the vaccine contain two bovine genes that aren’t found in wild-type human rotavirus. Both were present in the rotavirus isolates obtained from the babies.

The CDC recommends that the vaccine be given to all infants at two, four, and six months of age. Both infants who developed infections received the first two doses on schedule.

One case involved a girl hospitalized for pneumonia and respiratory infection from two weeks to two months of age; SCID was not immediately recognized. About a month after the second dose, she was rehospitalized with diarrhea, acidosis, and failure to thrive.

The other case was a boy who developed diarrhea, dehydration, and shock six days after the second vaccination.

Dr. Patel noted that other live-pathogen vaccines — poliovirus, BCG, measles, and varicella — have also been found to cause infection in children with SCID.

The condition occurs in about one in 500,000 to 1 million births. The Immune Deficiency Foundation estimates that the median age at diagnosis is about 24 weeks — well after infant vaccinations are supposed to begin.

There is currently no standard, reliable screening test for SCID, Dr. Patel said. It is usually diagnosed when infants present with repeated and/or unusual infections. Lymphopenia is a warning sign, but “it is not very specific,” he said.

The molecular analysis of the infants’ viral isolates indicated that the vaccine strains underwent mutation to cause disease.

That may explain why the infections did not develop immediately after the first dose in either case. “[The virus] perhaps took some time to mutate before causing disease,” he said.

Session moderator A. Wesley Burks, M.D., of Duke University in Durham, N.C., commented that the clinical implications are still uncertain.

“We [still] have to understand what the right thing to do is,” he said.

“Immune deficiency is not common, but at the same time it happens. Children [with it] that get a live viral vaccine, they’re going to have trouble with it.”

Both he and Dr. Patel suggested that a reliable screening test for infant immunodeficiencies is needed to avert future infections associated with live-virus immunizations.

No external funding for the study was reported.

Dr. Patel reported no potential conflicts of interest. Dr. Burks reported relationships with Acto-GeniX NV, Allertein, Dannon Co. Probiotics, EpiPen/Dey L.P., Genentech, Novartis, Nutricia, McNeil Nutritionals, Mead Johnson, MastCell Inc., and Gerber.

Primary source: American Academy of Allergy, Asthma & Immunology
Source reference:
Patel N, et al “Vaccine-acquired rotavirus infection in two infants with severe combined immunodeficiency” AAAAI 2009; Abstract L29.

linkback url: http://www.medpagetoday.com/Pediatrics/Vaccines/13314


Universal newborn SCID screening has potential to save lives, money

March 17, 2009

Universal newborn SCID screening has potential to save lives, money

Existing blood tests may help unlock some of the mysteries surrounding infant immunodeficiency syndromes, according to a speaker at the American Academy of Allergy and Immunology Annual Meeting held in Washington this week.

Performing inexpensive quantitative polymerase chain reaction assays may help avert expensive and ineffective later stage treatments for children with severe combined immunodeficiency, said Jennifer Puck, MD, professor of pediatrics at the University of California, San Francisco.

Infants with severe combined immunodeficiency (SCID) appear healthy at birth, but have few T cells, leaving them susceptible to recurrent and opportunistic infections. Health officials estimate SCID affects about one in 50,000 infants, but the exact number is unknown due to a of lack specific diagnostic tools and an incomplete understanding of the genetic interplay that results in symptoms. Currently, about 80% of infants with SCID go unrecognized until they develop infectious complications due to their immune deficiency, Puck said.

“The best survival and outcomes are achieved if treatment, such as bone marrow transplantation, can be done before infections occur,” she said.

Puck has developed a method for identifying presymptomatic children with SCID using the dried blood spots already obtained from all babies for newborn screening. DNA is extracted and PCR used to determine the number of T-cell receptor excision circles (TRECs) vs. a copy number of a control genomic DNA segment. Patients who lack TRECs may have SCID or other disorders with very low T cells. Pilot screening of newborns is currently ongoing in Wisconsin, Massachusetts and Navajo Indian populations, where SCID incidence is high. The tests cost between $6 and $10 per sample to perform.

The Medical College of Wisconsin recently instituted universal newborn screening, and researchers there noted among 46 children in whom SCID was diagnosed before 3.5 months of age, 96% survived 26 years post transplantation, compared with 66% of 116 children who did not receive an early diagnosis.

“Identifying infants who have low TRECs with screening will improve SCID outcomes, establish SCID incidence, and make identification of further immune defects possible,” Puck said.

The ongoing pilot trials will soon determine the clinical utility of such screening programs. – by Nicole Blazek

For more information:

  • Puck J. #3516. American Academy of Allergy, Asthma & Immunology Annual Meeting; March 13-17, 2009; Washington.
  • Routes J. #248. American Academy of Allergy, Asthma & Immunology Annual Meeting; March 13-17, 2009; Washington.

linkback url: http://www.pediatricsupersite.com/view.aspx?rid=37902