BOONE LIFE: MU art student with disability expresses self in art

December 29, 2011

BOONE LIFE: MU art student with disability expresses self in art

Missourian | December 26, 2011 | By Pinar Istek

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COLUMBIA — Her days take more planning than those of most people. She needs to see one of her five caregivers three times a day. She spends her nights in a chair instead of a bed. Other than that, Allison Reinhart, 26, is not much different than any other person.

“I just don’t want people to look at me and my story and how I get around and think that’s the way that those people do that stuff,” said Reinhart, an art student at MU.

She was diagnosed with spinal muscular atrophy, a hereditary neuromuscular disease, when she was 16 months old. Reinhart lived in the suburbs of St. Louis until moving to Columbia two years ago.

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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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Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

December 22, 2011

Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

FSMA News | December 22, 2011

The Burghes laboratory at Ohio State University publishes a paper in Human Molecular Genetics showing a single dose of an antisense oligomer (ASO) can greatly benefit survival, weight gain, and motor function in severe mouse model of SMA.

In this study, the authors delivered a bolus ICV injection of anti-sense oligonucleotide (ASO) of morpholino chemistry to alter SMN2 splicing and increase SMN levels. Treated SMA mice had improvement in weight gain, motor activity, and increased survival from 15 days to over 100 days. Delayed CNS delivery (P4) had an intermediate advantage, evidence that earlier CNS treatment yields more robust effects, while delayed peripheral delivery after blood-brain-barrier maturation had only modest increased survival. This suggests that CNS delivery of SMN is key to therapeutic benefit in this SMA mouse model.

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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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Fulton man’s memoir demonstrates the power of a fighting spirit

December 22, 2011

Fulton man’s memoir demonstrates the power of a fighting spirit

Syracuse.com | December 19, 2011 | By Sara Tracey

Craig Abbott’s autobiography begins at what could have been the end: He was dying.

At 18, one of his hundreds of cases of pneumonia turned into something worse. An ambulance was called when Abbott had difficulty breathing, made more difficult by his spinal muscular atrophy type 1, a disease that can weaken the muscles used for breathing and coughing.

On the drive to the hospital, the cough assist machine in the ambulance that would clear his lungs to improve his breathing wasn’t working. He passed out while the ambulance staff used a manual respirator to breathe for him. He came back to consciousness 13 hours later, hooked up to another breathing machine.

Abbott, now 23, of Fulton, said he opened his book “Classified Terminally Ill: A Young Man’s Story of Beating the Odds,” with this incident because of his fighting spirit. It’s a resilience that friends say Abbott has possessed his whole life.

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Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

December 19, 2011

Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

Press Release | December 19, 2011

CARLSBAD, Calif., Dec. 19, 2011 /PRNewswire/ — Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA). SMA is a severe motor-neuron disease that is the leading genetic cause of infant mortality. Isis is developing ISIS-SMNRx as a potential treatment for all Types of SMA.

“SMA is a devastating disease that leads to the loss of motor neurons resulting in muscle weakness and respiratory failure in children. The genetic cause of this disease is well understood, but there are currently no effective disease-modifying therapies. Currently, treatment of SMA is entirely symptomatic and focuses on preserving muscle strength and lung function by physical therapy and assisted ventilation. This supportive approach has improved the natural history of SMA by extending life expectancy, but muscle weakness and atrophy are not affected. A disease-modifying drug like ISIS-SMNRx that specifically targets the cause of the disease could, for the first time, restore muscle strength and respiratory function and dramatically improve the children’s function and quality of life,” said Darryl C. De Vivo, M.D., Sidney Carter Professor of Neurology and Pediatrics and Co-Director of the Motor Neuron Center at Columbia University Medical Center.

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theGSF and FightSMA Award $100,000 Spinal Muscular Atrophy Research Grant

December 16, 2011

theGSF.org | December 15, 2011

The Gwendolyn Strong Foundation (theGSF) and FightSMA are excited to announce a $100,000 award to Dr. Monique A. Lorson and University of Missouri in support of Dr. Lorson’s research focused on developing a large animal model of Spinal Muscular Atrophy (SMA).

Currently, no large animal model of SMA exists and the goal of Dr. Lorson’s research is to develop the first ever pig based model of SMA to be used by the broad, global SMA research community and other research groups to allow them to more efficiently and effectively move promising research from the bench to bedside. In short, this is a very exciting program that has the potential to have a material, positive impact on the future of SMA research in almost every category (e.g. gene therapy, compounds, antisense oligonucleotides).

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