2007 November | Spinal Muscular Atrophy

Archive for November 2007 – Page 2

Shoe Designer Gives Girl with Spinal Muscular Atrophy the Star Treatment

Posted: November 10th, 2007 | By: Staff | No Comments

Saturday, November 10th, 2007

14-year-old Megan Owen of Lancashire, England, is getting a treat that many adult women would give their eye teeth to receive. Megan fascinated with fashion and pretty shoes, the same as many other girls her age. Unfortunately, Megan has Spinal Muscular Atrophy (SMA), making most shoes unavailable to her. Here’s more from the Lancashire Evening Post:

Over the years, Megan’s disease has got progressively worse and she can now no longer move any of her limbs at all.

Megan’s condition means her feet point downwards like a ballet dancer’s and she cannot bend them.

As a result, she cannot wear shoes, although she is fascinated by them and longs to own a pair.

Her mum Karen said: “Megan is a real girly girl and loves pink and glitter and is obsessed with shoes.

“When Megan was born, we thought she was a normal healthy little girl.

The Make A Wish people are making sure Megan gets some special treatment related to her love of footwear. Famed shoe designer Jimmy Choo has promised to close his exclusive London store in order to give Megan a personal tour.

Make A Wish grants wishes for children with life-threatening conditions.

For more about Megan’s wish, read the story in this week’s Lancashire Evening Post.

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Categories : Spinal Muscular Atrophy News Stories

Home Grown How-To Videos for Spinal Muscular Atrophy

Posted: November 7th, 2007 | By: Staff | No Comments

Wednesday, November 7th, 2007

It turns out YouTube can be of more use than looking for silly videos. Brad Fisher’s daughter, Shira, has Spinal Muscular Atrophy Type 1. Shira is now two years old, and over the past few months Brad has posted several home grown how-to videos related to the things parents need to do to take care of their SMA kids. The videos run through the steps needed to perform a cough assist and change a “mickey button”. While Mr. Fisher isn’t a doctor, and you should always consult your doctor with questions about procedures, it’s extremely helpful to SMA parents to see how others perform these tasks.

Click here to view all of Shira’s videos on YouTube.

To learn more about Shira, visit her website.

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Categories : Spinal Muscular Atrophy Videos

Molecular medical research points to treatment of spinal muscular atrophy

Posted: November 2nd, 2007 | By: Staff | No Comments

Friday, November 2nd, 2007

A new article from researchers at Peninsula Medical School in Exeter, UK charts out ongoing studies at the school that they hope will lead to a treatment for some victims of spinal muscular atrophy (SMA).

Researchers [...] have carried out studies into one of the two survival motor neuron (SMN) genes that set suffers from SMA apart from the rest of the population. In 98% of SMA sufferers, the SMN protein is only produced from one of these genes. The resulting fall in SMN protein levels is what causes SMA to develop.

The remaining two per cent of SMA sufferers produce normal levels of SMN protein, but the protein is altered so that it is no longer capable of performing its normal functions within the body. One of the main reasons for this is that these disease-causing alterations in the SMN protein prevent it from localising to the correct places in the body¡¯s cells. By looking at why mutations occur and what they do to divert protein away from the cellular areas where it is required, the Peninsula Medical School team may be able to identify compounds that alter the protein so that it is directed correctly ¨C effectively producing a treatment for the disease.

The research could also have potential bearings on other treatments, such as gene therapy.

The paper highlighting this research is the first to be published by this particular research team, and it has made the front cover of Human Molecular Genetics, a remarkable achievement for a first time publication.

Read the entire article on EurekaAltert.

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Categories : Spinal Muscular Atrophy Science and Research

Chelsea Gallery Walking Tour to Benefit Spinal Muscular Atrophy Research

Posted: November 1st, 2007 | By: Staff | No Comments

Thursday, November 1st, 2007

FightSMA New York’s Second Annual Gallery Walking Tour will take place on Saturday, Nov. 3 from 2-4 pm at some of Chelsea’s most innovative and inspiring galleries.

New York, New York (PRWEB) October 31, 2007 — Participants in an upcoming walking tour of art galleries in New York’s Chelsea neighborhood will not only learn about featured artists and the inner workings of art galleries, they’ll also raise money for a child-killing disease. The SMA Walking Tour, to be held on November 3, 2007, will raise funds for research into spinal muscular atrophy. The tour will visit six different locations over a two hour period, allowing participants a behind-the-scenes look at how art galleries operate.

Spinal muscular atrophy (SMA) is the leading genetic killer of children under two. The neuromuscular disease causes a wasting of the muscles, robbing its victims of the ability to run, walk, crawl, play and, in many cases, even breathe or swallow.

“I’d like to thank the participants of the walking tour in advance for their support,” said Kathy Tompkins, chair of FightSMA’s New York chapter. “It’s critical that we find a cure for this disease, particularly since research into SMA benefits dozens of other disorders.”

The event is organized by Andrew’s Buddies of New York, the New York chapter of international nonprofit Fight SMA. The tour will begin at 2:00 p.m. and end at 4:00 p.m. Participants will start at Rare Gallery (521 West 26th Street) and continue on to DAmelio Terras, Friedrich Petzel, Nicole Klagsbrun, Lombard-Freid Projects, and Postmasters Gallery. Each gallery director will speak about the style of the emerging artist featured in the current exhibition.

The suggested contribution is $25 per person.

For more information ont the walking tour, please visit www.fightsma.org or call Caroline Gibson at (804) 515-0080.

About Fight SMA:
Headquartered in Richmond, Virginia, Fight SMA (also known as Andrew’s Buddies) is an international nonprofit group dedicated to accelerating research for a treatment or a cure for spinal muscular atrophy (SMA), a neuromuscular disorder that kills more babies than any other genetic disease. For more information on spinal muscular atrophy and Fight SMA, please visit http://www.fightsma.org The latest SMA news and research information is available at the Spinal Muscular Atrophy Blog, at http://www.fightsma.org/blog

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