Still another inspiring story this week, this time from North Carolina in the North Carolina Extension News. Jonathan Greeson of Pikeville in Wayne County always dreamed of playing hockey. Mr. Greeson has spinal muscular atrophy and is confined to a wheelchair, but he decided not to let that stop him. In 2002, Mr. Greeson founded the Carolina Fury under the umbrella of N.C. Electric Hockey Wheelchair Association.

At the time, three players from Jacksonville, Burlington and Raleigh – where Greeson lived as a student – practiced in Cary. Today, the Carolina Fury has eight regular players from across the state. The sport is competitive, Greeson says, with rules that are similar to regulation hockey.

The team does not play on ice. Their home court is the gymnasium of Charles B. Aycock High School in Pikeville, Greeson’s high school alma mater, and their main opponents are able-bodied players who take on the Fury from wheelchairs. Though the opposing teams always put up a fight, it is usually the Fury that comes out on top.

The Fury has set a goal of competing in the PowerHockey World Championships every two years. In 2004, the team competed in Minneapolis, and in 2006, they competed in the PowerHockey Cup in Calgary, Alberta, Canada. Greeson said the team drove to the competition – about five days on the road.

Greeson acknowledges that participating in PowerHockey requires support. “You have to have a really good family,” he said.

You can read the entire article on the Extension Online News blog.

Fans of the Fury can even buy merchandise. A selection of t-shirts, hats, posters, and other items can be found here. You can even find merchandise specifically with Mr. Greeson’s name and number!

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Some comments on spinal muscular atrophy (SMA) this week from the National Institute of Neurological Disorders and Stroke (NINDS), which is part of the National Institutes of Health (NIH). SMA Foundation excerpted the below remarks made by NINDS Director Story C. Landis, Ph.D. while she was testifying in front of the Senate Subcommittee on Labor-HHS-Education Appropriations hearings this week:

A decade ago, spinal muscular atrophy (SMA) was one of hundreds of poorly understood inherited disorders that affect the nervous system, and the outlook for developing treatments was bleak. The discovery of the gene defect that causes SMA revealed a rational strategy for developing drug therapy. In just a few years, the NINDS SMA Project developed a detailed drug development plan and tested hundreds of new compounds in laboratory tests. Most recently, some of these potential drugs increased the amount of the critical missing protein to normal levels in cultured cells from patients who have SMA. The SMA Project is testing the effectiveness of these compounds in animals with SMA and assessing their safety to bring these potential drugs to clinical trials, offering significant promise for helping people who have SMA.

Research on SMA illustrates the path from gene to understanding to treatment. Researchers have now characterized well over 200 mutations that cause neurological disorders. For inherited ataxias, Batten disease, Down syndrome, Huntington’s disease, muscular dystrophy, Rett Syndrome, neurofibromatosis, and many other previously baffling disorders, researchers have genetically engineered animals that mimic the human disorder and then replaced genes, turned harmful genes off, turned up compensatory genes, or counteracted gene defects with drugs that target the affected cellular functions. In the future, application of these strategies to patients could preempt or even reverse the damage caused by gene defects. NINDS is aggressively pursuing opportunities to translate science advances such as these to treatments.

Read the full text of Dr. Landis’ testimony in PDF format here.

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There was an inspiring article this week in the Victorville (California) Daily Press about a woman who is defying the odds. Reporter Ryan Orr introduces us to Sherry Pierce, a 40-year-old Victorville resident who has spinal muscular atrophy.

Here’s an excerpt from the story:

Some women inspire others by running for office, or giving to charity, or standing in a picket line, or keeping their seat at the front of the bus. Sherri Pierce inspires people by simply getting up and going to work everyday.

Pierce was born with spinal muscular atrophy and has been confined to a wheelchair since she was 3. She remembers when she was very little, being able to stand but only for a short while before her legs would give out. It is a degenerative muscle disease. As time passes, her condition worsens. But that has done nothing to weaken her resolve. She is overwhelmingly positive.

She celebrated her 40th birthday in early February, making her life 36 years longer than doctors had predicted to her parents. Everyday she continues to defy the odds and no longer bothers with doctor’s opinions. In fact, she describes herself as somewhat anti-doctor.

“Doctors don’t always know the power of positive thinking,” she said.

Pierce works as a counselor for students with disabilities at Victor Valley College, where she earned her associate degree in liberal arts. She then got her bachelor’s degree in psychology, and her master’s degree in rehabilitation counseling, both from California State University, San Bernardino.

“She’s such an inspiration, not only to the able-bodied people, she demonstrates to all the people with disabilities — whether they were born with them or acquired them — so much hope,” said Eileen Sullivan, friend and co-worker. “She’s a girlie girl,” said Sullivan.

Pierce has lived in the Victor Valley since 1978. She owns her own home in Hesperia. She can remember when Bear Valley Road was two lanes and actually used to get from one place to another in under an hour. She is unable to drive, because her arms are too weak to turn a steering wheel. That didn’t stop her from going to a special training center and trying. “I’ll try anything,” she said.

Click here to read the rest of the article.

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On Thursday, March 8, 2007, American Society For Experimental Neurotherapeutics (ASENT) devoted a section of their 9th Annual Meeting to the Fundamentals of Clinical Trials in Neurotherapeutics. Chaired by Wilson Bryan of the FDA and Bernard Ravina of University of Rochester, this day-long session included topics such as trial design, stages of therapeutics development, clinical trial statistics, and ethics of clinical trials.

FightSMA sponsored Dr. Jean Teasley’s attendance of the Fundamentals of Clinical Trials in Neurotherapeutics session. Dr. Teasley is a pediatric neurologist specializing in neuromuscular diseases and operative monitoring for neurosurgical procedures. She serves as Associate Professor in Virginia Commonwealth University’s School of Medicine’s Department of Neurology, Division of Pediatric Neurology and practices at Children’s Hospital in Richmond, Virginia where she treats spinal muscular atrophy patients.

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If you follow entertainment news, you’ve probably heard by now that Carol Burnett is suing FOX Network and the makers of “Family Guy” for $2 million. The suit stems from a 2005 episode of the cartoon sitcom that lampooned the actress and comedienne. More details are available from this article on CNN.com.

Fight SMA has ties with the show “Family Guy” reaching back to the show’s generous donation to our annual spinal muscular atrophy fundraiser last October. The makers of the TV show actually donated an appearance on the program! They illustrated the highest auction bidder into the show, making them a character in one episode. The winning bid for the once in a lifetime experience was a record $12,500. We remain thankful to FOX and Family Guy for the donation to our fight against SMA.

We are also familiar with Ms. Burnett’s involvement in a number of extremely worthy charitable causes, including her funding of multiple scholarship funds at universities across the country.

Without commenting on the merits of the lawsuit, we hope the two parties can come to an agreement to settle their dispute.

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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.

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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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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.

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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.

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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.

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