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Archive for March 2007 – Page 2

California Community Pulls Together for SMA Family

Posted: March 23rd, 2007 | By: Staff | No Comments
Friday, March 23rd, 2007

An article in today’s North County (California) Times by Noelle Ibrahim explains how the community of Oceanside pulled together to make a spinal muscular atrophy family’s dream come true. It provides proof that people in this world really do care.

John and Chris Wehner’s two daughters, Amy (9) and Linsey (11), each have spinal muscular atrophy type 2, which means they each use power chairs to get around. Unfortunately the family’s 1,100 square foot house is a bit cramped for the girls and their chairs. Unable to afford to expand the home themselves, Mr. and Mrs. Wehner applied unsuccessfully to get on the ABC program Extreme Home Makeover, which rebuilds or renovates homes for people in need.

That’s when the community stepped in and decided to do it themselves.

A family friend, Mickey Keen, who works with a local developer, started the ball rolling two years ago when he realized the family needed help. After making a trip to the Wehner house to help build a new closet for Amy, he enlisted his firm, Standard Pacific, to draw up plans to make the house more handicapped-friendly. Volunteers, including contractors from several companies, started renovations on the house in January, adding a large family room, creating larger bedrooms for the girls, constructing a handicapped-accessible bathroom and expanding the kitchen. In the end, the size of the house doubled.

From the article:

“You know how sisters are, they like to hang out together and now they’ll be able to,” said Chris as she stood in what would become the extended kitchen. “Now, they’ll actually be free in their own home and not restricted by their environment.”

Teachers at Temple Heights Elementary and Roosevelt Middle School, which Amy and Linsey, respectively, attend, have also donated funds to a benevolent account, to pay for any materials that haven’t been donated.

To donate to the cause, make checks payable to Linsey and Amy Wehner and mail them to Washington Mutual, 1641 S. Melrose Drive, Vista, CA 92081 with account reference No. 0314-0000172380-4.

You can read the entire article here. San Diego television station KNSD also did a story on the family’s renovation. You have to sit through a commercial, but you can see the video here.

Comments (0)
Categories : Spinal Muscular Atrophy News Stories

Fight SMA Unveils Spinal Muscular Atrophy Guidebook

Posted: March 20th, 2007 | By: Staff | No Comments
Tuesday, March 20th, 2007

We have unveiled new content on FightSMA.org that every SMA parent should know about. The Fight SMA Spinal Muscular Atrophy Guidebook is a compilation of the latest information available about the genetic disease that occurs in as many as one in 6,000 births, all in easy to understand language. We have gathered together in one place the following information:

Fight SMA Spinal Muscular Atrophy Guidebook
What is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy (SMA) Fact Sheet
Type 1 Spinal Muscular Atrophy
Type 2 Spinal Muscular Atrophy
Type 3 Spinal Muscular Atrophy (Kugelberg-Welander Disease)
Type 4 / Adult Spinal Muscular Atrophy
Diagnosis and Tests for Spinal Muscular Atrophy
Treatment for Symptoms of Spinal Muscular Atrophy
Help and Advice for SMA Parents

Some of this information was available on the Fight SMA site in the past, but we’ve recategorized it and compiled it in one place, because we know the last thing SMA parents have time to do is search for answers to their questions. Think of it as your field manual to this terrible disease. We’ve even provided a handy link to the entire guidebook in PDF format, so it can be printed out and read offline. We hope this guidebook is a useful resource for you. If you feel something is missing, please leave a comment in this post about it, or email us via this contact form.

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Categories : General Information, Spinal Muscular Atrophy Events

New Study Shows Correcting Rna Splicing May Help Treat Spinal Muscular Atrophy

Posted: March 17th, 2007 | By: Staff | No Comments
Saturday, March 17th, 2007

An article published this week by PLoS Biology outlined promising research being conducted at Cold Spring Harbor Laboratory (CSHL). Researchers say they have effectively corrected an mRNA splicing defect found in spinal muscular atrophy (SMA) patients. The technique is now ready to be tested in mouse models.

“SMA patients who suffer from motor-neuron degeneration may benefit from our ability to correct the mRNA splicing defect that makes their SMN2 genes only partially functional,” suggested CSHL Professor Adrian Krainer, Ph.D.

RNA splicing antisense technology allows researchers to influence the ultimate structure and function of proteins. Proteins are synthesized from instructions coded in the DNA through a multi-step process that includes RNA splicing. Information stored in the DNA of genes is transcribed into immature “pre-messenger RNAs” (pre-mRNAs), pre-mRNAs are then spliced into mature “messenger RNAs” (mRNAs), and finally, mRNAs are translated into proteins. In humans and most other organisms, the splicing process thus ensures proper protein production.

“Targeting the splicing process is a promising strategy for finding new medicines to treat SMA, and possibly other diseases,” said Marcus Rhoades, Ph.D. of the National Institute of General Medical Sciences, which partially supported Krainer’s research. “This work brings us one step closer to that goal.”

CSHL is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering. For more information visit http://www.cshl.edu/

The research is funded by the Spinal Muscular Atrophy Foundation.

For more information, you can read the news release at Medical News Today. Details on the research are available at PLoS Biology.

Comments (0)
Categories : General Information, Spinal Muscular Atrophy News Stories, Spinal Muscular Atrophy Science and Research

Website Launched for New Fight SMA Spinal Muscular Atrophy Golf Tournament

Posted: March 15th, 2007 | By: Staff | No Comments
Thursday, March 15th, 2007
1st Annual Spinal Muscular Atrophy Golf Classic

Fight SMA Southwest / Desiree’s Buddies, based in Albequerque, New Mexico, announced today that it has launched a website to keep golfers and others informed about the upcoming 1st Annual Spinal Muscular Atrophy Golf Classic. The tourney is set for September 27 at the prestigious Isleta Eagle Golf Course. All money raised by the event will go toward research into spinal muscular atrophy (SMA), the leading genetic killer of infants. You can visit the website by clicking the banner above, or clicking here.

Sponsorships are still available for this great Fight SMA event for as little as $50. More information is available by visiting the sponsorship page on the golf classic website or by emailing tournament organizer Erin Weisner.

Comments (0)
Categories : Spinal Muscular Atrophy Events, Spinal Muscular Atrophy Families and Friends

Video Introduces Spinal Muscular Atrophy Kids and Families of Fight SMA Atlanta

Posted: March 7th, 2007 | By: Staff | 2 Comments
Wednesday, March 7th, 2007

The video posted below is outstanding, and we recommend everyone take the time to watch it. It was produced by Spinal Muscular Atrophy Mom Kerry Schnitzlein for Atlanta’s SMAsquerade SMArdi Gras, held on February 17. The video shows the great personalities of the kids for whom Fight SMA was created. It’s a very moving piece and we thank Kerry for making it available for everyone.

Comments (2)
Categories : Spinal Muscular Atrophy Families and Friends
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