SMAHeadlines.com

New Test Finds 580 Fatal Diseases Before Conception

January 23, 2011

New Test Finds 580 Fatal Diseases Before Conception

ABC | January 18, 2011 | By SUSAN DONALDSON JAMES

Craig Benson thought his 5-year-old daughter just needed eye glasses when she complained about not being able to see the television set in 2008. But after consulting specialists, the family learned their beautiful daughter had a fatal neurodegenerative disorder — Batton disease.

“In an instant, a word we had never heard of changed everything,” said Benson, 48, and CEO of an Austin, Texas, biotech company. He and his wife Charlotte never knew they were carriers of the rare disease.

Christiane, now 8 and legally blind, faces a grim prognosis: seizures, memory loss and finally death by her late teens or early 20s. She is one of about 700 other Batton cases in the country.

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Leave a Comment » | Carrier Screening, Research, Technology, United States | Tagged: carrier screening, research, technology, united states | Permalink
Posted by stronwi

Family of disabled girl back mum’s condemnation of government

January 23, 2011

Family of disabled girl back mum’s condemnation of government

Sunday Sun | January 23, 2011 | By Helen Rae

THE family of a disabled girl have backed a mother who condemned Prime Minister David Cameron for failing families who need respite care.

Earlier this week, exhausted Riven Vincent said she may be forced to put her daughter, Holly, into full-time care after being denied additional support from social services and she called upon the Government to provide more funding to help those with disabled children.

The six-year-old has severe quadriplegic cerebral palsy and epilepsy and requires round-the-clock care.But her parents receive just six hours’ respite a week and, in a desperate plea posted on the parenting website Mumsnet, Ms Vincent announced she had asked social services to take Holly into care.

Parents Alison and Clint Law, of Wallsend, North Tyneside, know all too well the difficulties of looking after a disabled child 24 hours a day, seven days a week, and agreed with Ms Vincent the Government should do more.

Their wheelchair-bound daughter, Ellen, nine, has spinal muscular Atrophy Type II, meaning she has no control over her lower limbs, suffers from chest infections and requires a special diet.

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Leave a Comment » | Advocacy, Legislation, United Kingdom | Tagged: advocacy, legislation, united kingdom | Permalink
Posted by stronwi

Girl with muscle disease reaches a milestone

January 23, 2011

Girl with muscle disease reaches a milestone

CarolinaLive.com | January 23, 2011 | By Tonya Brown

A Lamar couple is celebrating their daughter’s second birthday.

Their little girl is suffering from an incurable muscular disease.

About 50 family and friends came out for the birthday party of Holly Tolson.

Holly’s parents say she turned two on Wednesday and her birthday is a major milestone.

In 2009, doctors diagnosed Holly with spinal muscular atrophy or SMA.

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Leave a Comment » | Fundraiser, South Carolina, United States | Tagged: fundraiser, south carolina, united states | Permalink
Posted by stronwi

Matthew’s Memory Appeal launched by Butterwick House Children’s Hospice

January 22, 2011

Matthew’s Memory Appeal launched by Butterwick House Children’s Hospice

The Northern Echo | January 22, 2011 | By Dani Webb

A BRAVE couple, who lost their three-month-old baby to a rare muscular condition, are backing a fundraising campaign set up in his memory.

John and Tracey Chad, of Parkside, Darlington, said they were honoured to be asked by Butterwick House Children’s Hospice to put son Matthew’s name to an appeal to raise £25,000.

The money raised from Matthew’s Memory Appeal, which will be launched today, will fund a sick children’s nurse.

Matthew was diagnosed with spinal muscular atrophy, a neuromuscular condition causing weakness of the muscles, when he was 11-weeksold.

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Leave a Comment » | Fundraiser, Tribute, United Kingdom | Tagged: fundraiser, tribute, united kingdom | Permalink
Posted by stronwi

A boy’s memory garden sows hope for other ailing kids

January 22, 2011

A boy’s memory garden sows hope for other ailing kids

Denver Post | January 22, 2011 | By Eric Eyl

Four years ago, Page Phillips and Tess Scanlon-Phillips welcomed their son, Cash Scanlon Phillips, into the world.

Four months later, they watched him die from spinal muscular atrophy, a rare genetic disease characterized by muscle atrophy and the loss of motor function.

But rather than let this tragedy destroy their family and their lives, the grieving couple decided to use the experience to help other families with sick children. On what would have been their son’s first birthday — Jan. 18, 2008 — they recruited honky-tonk rockers the Railbenders for the first Concert for Cash at the Oriental Theater, raising money to build a garden at Children’s Hospital.

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Leave a Comment » | Colorado, Fundraiser, Tribute, United States | Tagged: colorado, fundraiser, tribute, united states | Permalink
Posted by stronwi

Experienced Leaders Join SMA Foundation Board of Directors

January 21, 2011

Experienced Leaders Join SMA Foundation Board of Directors

Press Release | January 20, 2011

Newswise — The Spinal Muscular Atrophy Foundation announces the addition of Andrew Knight, Helen Meates, Stephen Mikita, Juli Oh and Simon Prisk to the SMA Foundation Board of Directors. They join a distinguished group of business and scientific leaders who oversee the SMA Foundation.

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Leave a Comment » | SMA Foundation, United States | Tagged: sma foundation, united states | Permalink
Posted by stronwi

Capps Votes Against Repeal of Health Insurance Reform

January 20, 2011

Capps Votes Against Repeal of Health Insurance Reform

Santa Barbara Independent | January 19, 2011

On January 19, Rep. Lois Capps (D-CA) voted against legislation to repeal the Affordable Care Act, which was enacted into law last March. The Patients’ Rights Repeal Act was approved by a vote of 245-189. All House Republicans voted “Yes” to repeal this life-saving law.

“The health insurance reform law is already benefitting families, seniors and small businesses up and down the Central Coast and across the country,” said Capps. “This effort to repeal the whole law, even as it’s still being implemented, is shortsighted and a political distraction. We should keep our focus on getting our economy back on track, addressing the housing crisis and creating jobs.”

During the floor debate, Capps told the story of one of her constituents, Gwendolyn Strong, to illustrate the life-changing impact of the implementation of the critical consumer protections included in the Affordable Care Act. Bill and Victoria Strong’s daughter Gwendolyn was diagnosed with Spinal Muscular Atrophy (SMA) at six months old. Before reform her parents lived in fear that she would reach her lifetime coverage limit and then be denied insurance due to her pre-existing condition. The elimination of lifetime caps has given the Strongs peace of mind—they are guaranteed Gwendolyn will receive the care she needs and their family is protected from bankruptcy. But repeal would put this family back at risk for losing their coverage and potential bankruptcy.

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Leave a Comment » | California, Health Insurance, Legislation, United States | Tagged: california, health insurance, legislation, united states | Permalink
Posted by stronwi

Lions help Tait sleep tight

January 20, 2011

Lions help Tait sleep tight

The Northern Rivers Echo | January 21, 2011 | By Mel Carrero

The Jenkins family will finally be able to rest easy after Lions donated a bed worth $15,500 to them on Monday.

Tait Jenkins, a 14-year old boy from Modanville, suffers from spinal muscular atrophy (SMA) and has no function of his muscles from the neck down and requires to be turned each hour during sleep, leaving his parents Fiona and Royce incredibly tired and Tait very dependent on their help.

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Leave a Comment » | Australia, Equipment | Tagged: australia, equipment | Permalink
Posted by stronwi

SMA Foundation and Rules-Based Medicine Collaborate on Biomarker Panels to Guide SMA Therapeutic Development

January 19, 2011

SMA Foundation and Rules-Based Medicine Collaborate on Biomarker Panels to Guide SMA Therapeutic Development

Press Release | January 19, 2011

NEW YORK and AUSTIN, Texas, Jan. 19, 2011 /PRNewswire/ — The Spinal Muscular Atrophy (SMA) Foundation and Rules-Based Medicine, Inc. (RBM) announced today that they have reached the first milestone in a program to develop a panel of plasma protein biomarkers for SMA using RBM’s Multi-Analyte Profiling (MAP) technology platform. In this collaboration, RBM will discover and also confirm plasma protein biomarker candidates previously identified from the multicenter Biomarkers for SMA (BforSMA) clinical study sponsored by the SMA Foundation and conducted by BG Medicine. The identification of such biomarkers may help to assess drug efficacy and shorten the duration of clinical trials of SMA therapies.

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