Newborn screening program aims to help transform treatments for genetic diseases detected at birth

January 17, 2012

Newborn screening program aims to help transform treatments for genetic diseases detected at birth

Press Release | January 17, 2012

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

Now a pediatric research project plans to strategically expand the data collection linked to newborn screening results, aiming to open up broad opportunities to develop new ways to screen for and treat childhood diseases.

Many existing therapies for rare childhood diseases are seriously limited, while screening tests and treatments remain to be discovered for many other congenital disorders not currently included in newborn screening. At The Children’s Hospital of Philadelphia, a research group is developing tools to store long-term clinical data on children with conditions picked up in the screening tests. The goal is to harness the power of numbers—using clinical data from many patients over years of their lives as a resource for researchers seeking new and better tests and treatments.

As biomedical knowledge and screening technology advance, more disorders have been added to those included in newborn screening, and the list will continue to grow.

“Currently, newborn screening programs are primarily limited to a short-term focus,” said project leader Peter S. White, M.D., director of the Center for Biomedical Informatics (CBMi) at The Children’s Hospital of Philadelphia. “The programs screen for disorders in which early intervention is possible. If we can broaden the data capture to follow up children over a longer term, we can tap the potential to develop new medical tests and interventions for diseases that are not currently detectable or treatable.”

Awarded this past October, the CBMi’s project, the Long-Term Follow-Up Data Collection Tool, is part of an ongoing five-year award from the Newborn Screening Translational Research Network (NBSTRN) to the American College of Medical Genetics. The NBSTRN, in turn, is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The subcontract award to Children’s Hospital totals $1.8 million over three years.

A classic example of a disease detected in newborn screening is phenylketonuria (PKU), in which a mutated gene disables a patient’s ability to process the amino acid phenylananine. Untreated, the excess amino acid causes severe mental retardation. But major diet restrictions, beginning in the first few weeks of life, allow near-normal development. Newborn screening programs have sharply reduced PKU-related mental retardation over the past four decades.

Over the years, more than 50 additional diseases have been added to the newborn screening list, including sickle cell disease and cystic fibrosis. If the initial screening flags a suspected disorder, healthcare providers order further tests to confirm or rule out the first result.

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‘Happiness is always an option’

December 29, 2011

‘Happiness is always an option’

The Morning Call | December 24, 2011 | By Milton D. Carrero

The early morning looks dark from his room at his parents’ Bethlehem home, but Shane Burcaw’s mind is alert and on the go.

The dim beam from his MacBook Pro monitor bounces on his thumbs, casting a shadow on his curved hands as they pace their way through the illuminated keyboard. Burcaw, a blogging sensation who in six months has garnered tens of thousands of followers, rummages his most heartfelt memories with only one goal: to make you laugh.

A 19-year-old journalism sophomore at Moravian College, Burcaw will write almost anything if he feels it’s funny. He wants to be honest with himself and with his audience, which grows at baffling speeds.

“My main objective is to make other people laugh,” he says. “That’s probably my favorite thing in life.”

He comes from a family of writers and people with an unrestrained sense of humor. Burcaw grew up used to having others laugh either with him or at him, he didn’t mind.

“Whenever I am out in public it is pretty much a guarantee that at least a few people will make it completely obvious that they have never seen someone like me before,” he writes. “By ‘someone like me,’ I mean an alien-like pterodactyl creature with a human head that uses a wheelchair.”

He suffers from spinal muscular atrophy, type 2, one of the 43 neuromuscular diseases beneath the muscular dystrophy umbrella. His body lacks one of the proteins used to develop and maintain muscle. Or as he puts it: “My body made some muscle when I was young and then just stopped. And then it kind of sucks at maintaining the muscle.”

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Insurers put brakes on fast approvals for power wheelchairs

September 27, 2011

Insurers put brakes on fast approvals for power wheelchairs | September 27, 2011 | By Stacey Burling

Samantha Lorey, 27, would be a mere 4-foot-5 if she could stand. She weighs just 70 pounds. She can move her hands a little to maneuver her costly new wheelchair, but if her arms fall in her lap, she can’t pick them up. She can’t move her legs at all.

Lorey’s problems stem from spinal muscular atrophy, a neuromuscular disease that eventually will kill her. Diagnosed as an infant, she was not expected to live past 2.

Instead, she has lived long enough to need three wheelchairs – which she suspects may not please her insurance company.

“People who would be dead are living longer, so insurance companies are having to put out more money,” she said in a soft, watery voice.

It took months, and three appeals of her insurer’s denials, to get the wheelchair she now uses in her family’s small home in Gibbsboro, Camden County.

People who evaluate and fit patients for wheelchairs say cases like hers have become more common in recent months. They say many requests for the kind of chairs that patients like Lorey use – expensive, motorized units with multiple custom features – are being denied because insurers and Medicare officials are worried about high costs and fraud. Doctors, physical therapists, and patients must appeal the decision, or else the patients give up and accept lesser chairs.

“It’s gotten to the point where words are not enough to convince the medical directors” of insurers, said assistive technology professional Robert Townsend of Jeff Quip, a Boothwyn company that supplies complex chairs.

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The Story and Purpose Behind Zane’s Run

September 22, 2011

The Story and Purpose Behind Zane’s Run

Malvern Patch | September 20, 2011 | By Pete Kennedy

Vodpod videos no longer available.

In 2009, Keith and Hillary Schmid lost their 5-month-old daughter, Zane, to type I Spinal Muscular Atrophy, a genetic disease that did not affect Zane’s twin sister Avery.

That year, the Schmids organized Zane’s Run, a 5K held at Sugartown Elementary School. The proceeds of the run helped supply informational packets and car seats to families facing the disease. The third annual Zane’s Run will take place Sept. 25 this year.

View the attached video to learn more about the Schmids’ story.

The Schmids hope to raise awareness and encourage people to be tested for SMA.

“Both parents have to be carriers of the disease to have a child with SMA,” Hillary Schmid said. “[Two carriers] have a 25 percent chance of having a child with SMA, a 50 percent chance of having a child be a carrier, and the other 25 percent chance that the child will be unaffected.”

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Northampton actress finds personal success despite disabilities

July 18, 2011

Northampton actress finds personal success despite disabilities via | July 18, 2011 | By Manasee Wagh

She has performed in Italy and off-Broadway, to glowing reviews in the New York Times. She can sing, too, and fondly recalls belting out the national anthem before a Phillies game.

A 2000 graduate of Council Rock High School, Shannon DeVido of Northampton is fulfilling her childhood dream of becoming an actress.

It just doesn’t matter that DeVido, 29, was born with spinal muscular atrophy, a degenerative disease that causes the muscles to deteriorate over time. Rather than interfering with the life she wants to lead, she said the genetic condition has felt more like a minor setback that she revels in beating.

“It’s a very interesting thing to be in a wheelchair in this business. It’s very different, and I find myself fighting all the time for parts. Actresses in wheelchairs have a challenge, getting casting directors to look past that. But it’s good to have a challenge because it makes you stronger,” she said.

While DeVido earns her living working at the Apple store in Philadelphia, her passion lies in performance. She knows her experience wouldn’t be that different even if she were up and walking around, she said.

“Every actor goes through rejection. It’s 95 percent rejection. But I love it way too much to give up. I can’t imagine myself doing anything else,” she said.

The disease isn’t something she chooses to focus on, DeVido said. “I don’t like to talk about my disability very often. It’s not my sole purpose in life. I’m not going to let it stop me,” she said.

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Family, Friends, Fans Help Little Boy With Debilitating Disease

June 23, 2011

Family, Friends, Fans Help Little Boy With Debilitating Disease

WFMZ | June 21, 2011 | By Pam Cunningham

ALLENTOWN, Pa. — Several kids celebrating their birthdays threw out a ceremonial first pitch Wednesday night at the R-Phils game at FirstEnergy Stadium.

But one 6-year-old can’t throw because of a disease that keeps him wheelchair bound. Yet, he still went up to the mound and enjoyed his first live baseball game.

Take me out to the ball game sounds like a simple request, but for Skyler Reed it’s a big task.

Skyler’s birthday is Saturday. Six years ago he was born with the most muscle strength, he’d ever have. He has Spinal Muscular Atrophy, or SMA.

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Climbing for Silas: Fundraisers to help 16-month-old boy with genetic disease

June 20, 2011

Climbing for Silas: Fundraisers to help 16-month-old boy with genetic disease

Pittsburgh Post-Gazette | June 20, 2011 | By Pohia Smith

Fewer than 1,000 infants and children are believed to be living in the United States with a life-threatening genetic neuromuscular disorder called SMARD, or spinal muscular atrophy with respiratory distress.

One of them is 16-month-old Silas Werner of Friendship, the son of John and Lisa Werner, who both are recessive carriers of the SMARD gene. His sister Valentia apparently died of the disease a year before his birth, although the cause was initially given as sudden infant death syndrome, or SIDS.

With SMARD, the patient has extreme respiratory distress because his diaphragm becomes paralyzed. He also has progressive severe body weakness, predominantly in the lower limbs. Silas’ disease now has progressed to most of his body, excluding his face and internal organs.

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‘Baby Michael’ of Albrightsville receives a donation van

June 20, 2011

‘Baby Michael’ of Albrightsville receives a donation van

Pocono Record | June 20, 2011 | By Vinny Vella

The Benincasa family of Albrightsville received some good news last week, and it came on four wheels.

“Baby Michael” Benincasa — who has Type 1 Spinal Muscular Atrophy, a condition that has rendered him quadriplegic and unable to breathe without assistance — now has a wheelchair-accessible vehicle thanks to Steven Kirby of Sciota.

After reading about the breakdown of the family’s previous vehicle in the Pocono Record, Kirby knew he had a solution to their problem.

His late mother, Christine Kirby, suffered from multiple sclerosis and relied on a wheelchair-adapted 2000 Chrysler Town and Country for transportation. Since he no longer needed the minivan, Kirby donated it to the Benincasas.

“I’m glad we could help out,” he said. “Michael is a great kid, and deserves the best. I’m sure my mom is happy that we did this as well.”

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A van for Baby Michael: Albrightsville family loses vehicle for disabled son in fire

June 3, 2011

A van for Baby Michael: Albrightsville family loses vehicle for disabled son in fire

Pocono Record | June 2, 2011 | By Vinny Vella

Kerry Benincasa lost her van on the backroads of the West End.

At a stop sign along Route 903, her brakes weren’t responding. As she coasted to a stop and put the vehicle in park, smoke billowed from under the hood.

“Jump out of the car as soon as Mommy stops,” she told her 5-year-old daughter Cecelia.

The two escaped unscathed. The same can’t be said about the family vehicle: A brake line needs replacing.

But Benincasa of Albrightsville is more thankful than upset. She considers the whole ordeal an act of God.

“If it didn’t happen yesterday, it would’ve happened today, while we were traveling on I-80 with Michael in the car,” she said.

Michael is Benincasa’s soon-to-be 4-year-old son. He was born with Type 1 Spinal Muscular Atrophy, a condition that has rendered him quadriplegic and unable to breathe without assistance.

Had he been in the van — a 1986 Chevrolet outfitted with a wheelchair lift — Michael would’ve been strapped in and difficult to move.

“He’s completely flaccid; he can’t even lift his head up,” Benincasa said.

Outside the van, Michael would still not have been safe. Without his bulky portable ventilator, he would have been unable to breathe.

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Eileen Marie Barclay, 52, counselor

May 10, 2011

Eileen Marie Barclay, 52, counselor

The Philadelphia Inquirer | May 10, 2011 | By Sally A. Downey

Eileen Marie Barclay, 52, of East Oak Lane, who counseled others while struggling with her own crippling disease, died of pneumonia Thursday, May 5, at the Hospital of the University of Pennsylvania.

Ms. Barclay had spinal muscular atrophy, a type of muscular dystrophy.

Her father, Joseph, made her special braces until she needed to use a wheelchair when she was 9. Her mother, Rosemary, was an activist for children with the disease, serving on the board of the Philadelphia chapter of the Muscular Dystrophy Association of America.

“She was raised to believe she could overcome any obstacle,” said her sister, Bunny Schnell.

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