A self-described “fully-fledged fat man” is, as this blog post is being written, leading a team that’s walking through the UK for SMA.  Gav Thompson of Abingdon, England, is leading a 17-strong team that’s walking a 52-mile tour of of Berkhire and Oxfordshire.

More details from the BBC:

The Abingdon man dreamt up the walking challenge after his best friends’ five-month old daughter Georgia died from the terminal disease Spinal Muscular Atrophy Type 1 (SMA).

The baby girl from Newbury died on Sunday 6 January 2008 after a three-month fight to stay alive.

Gav said: “There is little awareness of SMA in the UK, despite it being the largest genetic killer of babies and toddlers in the UK.”

This spurred Gav into action.

He plumped for a walk to raise awareness and funds for The Jennifer Trust for Spinal Muscular Atrophy and the Naomi House Children’s Hospice, where baby Georgia passed away.

Gav teamed up with his similarly “generously-proportioned” friend, Matt Whitticase, and the two hauled themselves off the couch and have been training furiously since October.

“We weren’t sure how far we could or should walk,” said Gav, “so to start with we both got on the bathroom scales, only to find that our combined weight was literally ‘off’ the scale.

He added: “Consequently we figured we should walk as many miles as our combined weight - and that gave us the 52 mile target.”

The other walkers are all friends and family of Georgia’s parents, Nick and Emma Macpherson from Newbury, who are also doing the walk.

The 17 walkers have so far raised over £72,000 in sponsorship from friends and colleagues.

The group started its walk on Thursday, February 7.  They’re due to finish tomorrow.

To read the entire BBC article, click here.  To visit the website built about the walk, click here.

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After a long hiatus, Fighting Back Podcast is coming back! A new episode of the podcast, produced for Fight SMA and FighterMom, will be published on this blog tomorrow morning. Episode 11 of Fighting Back will feature interviews with disease researchers Dr. Chris Lorson and Dr. Alex MacKenzie. The doctors will talk look back at advances in SMA and other disease research in 2007. They’ll also talk about what could happen in 2008. Don’t miss it!

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Fight SMA’s yearly fundraiser, SMAsquerade, is coming up on October 13, and time is running out to submit your absentee bid for some of the INCREDIBLE items we have available this year.  Absentee bids must be submitted via email or fax by 5:00 p.m. on October 12.  All proceeds from the auction will go toward finding a cure for spinal muscular atrophy, the leading inherited killer of children under two.

Here’s a look at some of the items up for bids at SMAsquerade: Make Tracks!

• Corporate box seats to the 2008 Kentucky Derby and Kentucky Oaks!
• An eight-day whale tracking adventure in the Gulf of California, accompanied by a National Geographic Senior Editor and Photographer!
• An amazing package trip to Nashville during Christmas 2007, including a three night stay for four at the Nashville Opryland Resort!
• A 10-day stay in a privately-owned hacienda in Clearwater, Florida!
• MUCH, MUCH more!

More details, plus a video of the beach house in Florida, are available at the SMAsquerade 2007 page on the Fight SMA website.  Absentee bidding details are available here.

SMAsquerade 2007 is presented by SunTrust! 

Please join in the fun!

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Fight SMA’s upcoming SMAsquerade: Make Tracks! event was featured this week in an interview on the national radio show At the Races with Steve Byk. The program airs daily on Sirius Satellite Radio channel 126, and is all about the world of horse racing. Our Steve Mullen was interviewed on Tuesday, September 25th about one of the many exciting items available during the upcoming SMAsquerade live auction — six corporate box seats at next year’s Kentucky Derby!

The 5th annual SMAsquerade event takes place on October 13, 2007, and is Fight SMA’s signature fundraiser. It will feature live and silent auctions of amazing items. To learn more, visit the event page on the Fight SMA website.

To listen to the At The Races interview, visit the archives page on the show’s website. The interview took place at the end of hour one.

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We’ve gotten a bit of feedback since launching Fighting Back almost two months ago, and we figure it’s time to share some of it. The podcast features inspirational stories about people and families fighting serious or incurable diseases. It’s produced for Fight SMA and FighterMom.

First up is a voice mail from a fellow podcaster. Dale from Tech Talk for Families called our feedback hotline at 206-984-3669 and left a message, which is loaded into the flash mp3 player below so everyone can hear it.

Thanks for listening, Dale!

Next up are some comments received via iTunes:

• (Rating: 5 stars) This is a well-produced cast about living with and beating diseases. Whether you suffer from such a thing or are completely healthy, there’s always something inspiring to be had from listening to the triumphs of others. Worth your Time.
• (Rating: 5 stars) Great Show! Tough topic and very inspirational! Well done!
• (Rating: 5 stars) Dealing with these topics is important, yet incredibly difficult. What an inspiration for those who struggle or have families who struggle with incurable diseases.

Thanks to all of those who have left feedback for us. If YOU have a question or comment, or would like to have your story told on Fighting Back, please email or (even better) leave a message on our feedback hotline at 206-984-3669!

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Recently, Fight SMA and the biopharmaceutical firm PTC Therapeutics announced they’re collaborating in the effort to discover new treatments for spinal muscular atrophy (SMA).  PTC issued a progress update on that work today.

Read PTC’s progress update in PDF format here.

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On Monday, April 30, 2007, the blogosphere will observe a day of silence to remember the victims of the Virginia Tech massacre. Fight SMA and the Spinal Muscular Atrophy (SMA) Blog are observing this day.

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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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Did you know that you can help raise money for SMA reasearch with your everyday web-searches? GoodSearch allows you to do just that. All you need to do is designate FightSMA (listed in their charity database as “Fight SMA - Andrews Buddies Corporation“) as your charity of choice and then use GoodSearch as your internet search engine. With each use of GoodSearch, you earn approximately $0.01 for FightSMA. That may not sound like much, consider this: if we could gather just 100 people who each performed 5 searches a day in 2007, we could raise over $1,800 before the end of the year that FightSMA can use to fund researchers working to treat and cure SMA.

Tell your friends!

For more information about how GoodSearch works, visit www.GoodSearch.com.

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