Mum strives for awareness of Spinal Muscular Atrophy

December 22, 2011

Mum strives for awareness of Spinal Muscular Atrophy

GetReading.co.uk | December 21, 2011 | By Laura McCardle

A mum whose baby daughter died shortly after she was diagnosed with a rare condition wants to raise awareness of it and its treatment.

Donna Bevan’s daughter Nicole was just four-and-a-half months old when she lost her battle with Spinal Muscular Atrophy (SMA) at Royal Berkshire Hospital (RBH) on Saturday, October 22.

Mrs Bevan, of Hunters Hill, Burghfield Common, believes that little Nicole was failed by the RBH and that she may have lived longer if things had been done differently.

Neurologists diagnosed Nicole with SMA on Friday, September 23, and Mrs Bevan felt her husband Nick and she were told very little about the condition except that their daughter “would have 12 months give or take”.

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4-year-old needs device to help her breathe

December 16, 2011

4-year-old needs device to help her breathe

Cincinnati.com | December 11, 2011 | By Mark Hansel

Karah Barry’s mind is as sharp as any other 4-year-old’s.

She is bright and personable, reads, participates in a preschool program and plays on a miracle league baseball team.

Karah’s body, however, prevents her from participating in a lot of other activities common to girls of her age.

She has spinal muscular atrophy type 1, commonly referred to as SMA.

Karah cannot walk, talk, sit, or swallow and she is at high risk of acute respiratory failure. She relies on an automatic cough assist machine and a technique called CPT because she has no ability to clear secretions.

“She is a prisoner in her own body,” said Danielle Barry, Karah’s mother.

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To fully live his life, young Matthew needs wheels

October 18, 2011

To fully live his life, young Matthew needs wheels

The Boston Globe | October 16, 2011 | By Beverly Beckham

H e wants to play hide and seek with his 5-year-old brother, Noah. He wants to see the birds he hears in the trees and the firetrucks that zoom past his house with their sirens on. But he has to wait for someone to carry him to the door to look outside. And birds and firetrucks don’t wait.

Matthew Davidopoulos of Lowell is a typical toddler in so many ways. He’s smart and talkative and curious and bursting to do all that he can. He loves to color and paint and play with his iPad and watch movies (“Cars’’ is his favorite). He has dark blond hair and perfect baby teeth and bright blue eyes.

It’s having spinal muscular atrophy that separates him from most kids his age. It’s being unable to sit or stand or walk or dress himself or even stamp his foot when he gets angry.

He was diagnosed with SMA when he was 8 months old, a week before Christmas. Doctors told his parents, Courtney and Paul, not only that Matthew had a degenerative muscle disease but that he would not live to be 2. They were given a Do Not Resuscitate form to fill out.

Matthew is 2 ½ now, and though his life is not easy, it’s his life. Every night his parents hook him up to a feeding tube to provide the nutrients he needs but cannot get by eating. Every morning they use a machine to clear congestion in his chest that accumulates overnight. Then they bathe and dress him and get him ready for the day. They carry him downstairs, where he has to wear a special vest for about 20 minutes to further loosen congestion. Then he is strapped into a “stander’’ for two to three hours of weight-bearing pressure on his legs. Three times a week, he has physical therapy, once a week he has play therapy and aqua therapy, and once a week he goes to a playgroup with typical kids.

All this, and he is a happy child.

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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

philly.com | 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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ETX boy raises money for SMARD research

September 27, 2011

ETX boy raises money for SMARD research

KLTV | September 23, 2011 | By Lauren Callahan

WHITE OAK, TX (KLTV) – An East Texas boy has had Spinal Muscular Atrophy Respiratory Distress, or “SMARD”, since he was three months old.

And until recently, no one was researching the disease.

Now that a laboratory in Maine is devoted to learning more about “SMARD,” three-year-old Dakin Lovelace wants to help.

Dakin Lovelace was a healthy baby, according to his mom Devon. But when he was three-months-old, he stopped breathing. After many doctor’s visits, he was diagnosed with SMARD

“And so as a result of that Dakin can’t breathe on his own, he can’t walk. He can’t sit up on his own. Um, we are very fortunate, though, that he’s so strong. We’re very, very lucky, and he’s happy. His brain is not affected at all. He’s smart as a whip and he’s a happy boy,” says Devon.

His parents resigned themselves to the fact that Dakin would always be in a wheelchair and using a ventilator. Until they learned this summer about the Jackson Laboratory in Maine, where a researcher is starting to study SMARD.

“We lived pretty much three years having no hope whatsoever that anything anybody was doing was going to help Dakin,” Devon expressed.

There are about 60 known cases of SMARD worldwide.

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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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Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

September 8, 2011

Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

San Francisco Chronicle | September 8, 2011 | By Robert Langreth and Alex Nussbaum

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Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.

The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.

“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”

Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.

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