Fighting Back Episode 5 - Andrea Smith [11:00m]: Download

Andrea Smith keeps busy, and she does it helping seemingly as many people as possible. She’s the latest interview subject in the Fighting Back podcast, and we’re proud to tell the story of this amazing woman.

For almost her entire life, Andrea has had epilepsy. Her young son, meanwhile, has accommodative esotropia with strabismus, an eye disorder that can lead to partial blindness if not treated. Most people in her situation would have little time for helping others. Not Andrea. She not only helps others dealing with issues similar to those of her family, but also spends her time volunteering to help raise awareness and funds for research into spinal muscular atrophy (SMA), a disease to which she has no direct connection. She’s also turned herself into a self-educated insurance expert who is willing to help anyone at any time who has been denied an insurance claim.

In Episode 5 of Fighting Back we talk to Andrea about the various causes she supports, how she got involved, and how she finds the time.

To contact Andrea to request help with an insurance claim, you can post a message on the FighterMom Community.

Fighting Back tells inspirational stories of people and families fighting serious or incurable diseases, and we love to hear from our listeners! If you have feedback, a comment or question, or are interested in having Fighting Back tell your story, please contact us via the Fight SMA contact page or leave us a voice mail message at 206-984-3669. You can also leave a message in the form of a comment on this blog as well. Finally, we’re also excited to now be featured on iTunes, and you can leave feedback there!

To hear Episode 5 of the Fighting Back Podcast, you have several options. You can listen using the Flash mp3 player above. Or, if you’re a fan of podcast RSS feeds, you can use the Fighting Back Podcast Feed in your favorite feed reader. If you’re an iTunes user you can subscribe and download via our iTunes store. Finally, you can, of course, download this episode using the link above.

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Elizabeth Heimbaugh of Akron, OH is doing research that would be impressive for scientists with years of experience. Thing is, she’s just graduating high school.

The 17-year-old recently won one of the Akron Beacon Journal Newspaper’s 2007 Gold Star Students awards. Earlier this year, she was named a semifinalist in the Intel Science Talent Search, known as the junior Nobel Prize. Her research was based on finding a less expensive way to test for spinal muscular atrophy. Elizabeth did her research at Northwestern University with the help of her aunt, Christine DiDonato, who works at the university and has a doctorate in molecular genetics.

An excerpt from the Beacon Journal article:

In simple terms, they sought to develop a method for detecting spinal muscular atrophy, a disease in infants that affects the muscles used for crawling, walking, head and neck control, and swallowing. They amplified samples of DNA from infected patients. Then, using a machine called a light scanner, they heated the samples up. Lastly, they used a computer program to examine the curves created by this process.

Elizabeth and DiDonato determined this method could detect the disease in infants and would be cheaper and easier than the process currently being used. DiDonato is continuing this research at Northwestern.

“It’s a promising technique,'’ Elizabeth said.

With Elizabeth’s Intel Talent Search award, she received a $1,000 scholarship and [her high school] got $1,000 for science materials.

Elizabeth will attend Stanford University, where she might major in human biology.

You can read the entire article on this remarkable young lady at the Beacon Journal site.

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The video slide show below was created by Jim Vaile and was shown in April, at the 2007 Fight SMA Spinal Muscular Atrophy Conference in Washington, DC. It features images of the children of Fight SMA. They are the reason for our fight.

A big thanks to Jim for a great video.

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Musician and SMA Dad J. Robbins gave a heartfelt speech last month at a reunion benefit concert of his former band, Dismemberment Plan. The speech, which is on video below that was uploaded to YouTube, was about his son, Callum, and the fight against spinal muscular atrophy. Fight SMA provided literature for the event to educate those in attendance about SMA.

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On May 18, 2007, a letter signed by clinicians and investigators from the medical and scientific community was presented to the U.S. Department of Health and Human Services (HRSA) Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) restating the case for spinal muscular atrophy to be included in the newborn screening efforts. Additional signatories are still being recruited and we welcome any scientists who would like to add his or her name to contact Laura Breiteneicher.

You can read a copy of the letter in PDF format on the Fight SMA website.

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At the recent 2007 Fight SMA National Spinal Muscular Atrophy Conference, Congressman Patrick Kennedy of Rhode Island addressed the attendees about spinal muscular atrophy research funding and the SMA Treatment Acceleration Act. The proposed legislation, developed through a collaborative effort between Fight SMA, the SMA Foundation, and Families of SMA, would establish a national clinical trials network to develop treatments that are safe and effective for SMA patients.

Conference attendee Karin Vallo captured the speech on video. Karin is a leader in the Desiree’s Buddies / FightSMA Southwest Chapter in Albuquerque, New Mexico, and is the grandmother of Desiree. A big “thank you” goes out to Karin for helping us make this video available!

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A “fighter mom” is a mother with a purpose. She is organized to fight a disease or disorder that’s affecting her child, by raising money for research, raising awareness, and making sure everyone knows there’s a horrible disease that needs our attention. She is a disease advocate. The FighterMom™ program salutes these special moms this Mother’s Day Weekend, and is now providing them a place where they can easily find one another. The program, developed by international nonprofit organization Fight SMA, is relaunching this Mother’s Day weekend as part of an expansion from an informational resource to a community.

FighterMom is the brainchild of Joe and Martha Slay, who founded Fight SMA in 1991 after their son, Andrew, was diagnosed with spinal muscular atrophy (SMA). While theirs is a specific fight against the leading genetic killer of children under two, they believe that the lessons they’ve learned are lessons that can be taught to people fighting other diseases.

As part of the relaunch, the FighterMom website has been redesigned, not only to better present information but also to include the FighterMom Community. The new community includes message boards, the FighterMom Blog, the ability for visitors to easily create their own blogs, and the Fighting Back Podcast (subscribe to the Fighting Back Podcast Feed), which features inspirational stories about people and families fighting serious or incurable diseases.

“Isolation is one of the biggest problems facing FighterMoms, partly because in many cases you really are one of very few people dealing with your disease,” said Mrs. Slay, who is president of Fight SMA. “With this relaunch, we want to create a place with so many like-minded people that visitors can’t help but realize there are others out there just like them.”

The new site is also more organized, and provides a place for visitors to learn about companies like Children’s Wear Digest that support the FighterMom program.

One thing that hasn’t changed is the FighterMom Manual. Written by Joe and Martha Slay, it costs individuals only the price of shipping. The manual includes everything they can teach about how they built Fight SMA. New or veteran FighterMoms can use it to educate themselves on topics such as how to organize and strategies to get attention for your disease.

“People who are organizing to fight a disease run into many of the same problems, even though their situations may be vastly different,” said Mr. Slay. “We believe we can provide a great deal of help to them, and by creating the FighterMom Community we can also provide a place where parents of sick children can learn from and support each other.”

To learn more about the FighterMom program, please go to www.fightsma.org/fightermom!

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 Fighting Back Ep. 4 - FighterMom Relaunch (Martha Slay) [8:50m]: Download

In Episode 4 of the Fighting Back Podcast, produced by Fight SMA and FighterMom, we continue our discussion with Fight SMA President Martha Slay. In Episode 3 we discussed the Fight SMA National Spinal Muscular Atrophy Conference in Washington D.C., as well as what it takes to be a FighterMom. In the latest episode, she talks about the exciting relaunch of the FighterMom program. The program, developed by Fight SMA, is designed to support, educate, and inform anyone who has become a disease advocate fighting against a disorder affecting a child.

If you have a comment or question or are interested in having us tell your story, or the story of someone you know, in the Fighting Back Podcast, please contact us via the Fight SMA contact page, or leave us a message at 206-984-3669. Of course, you can always leave a message in the form of a comment on this blog as well.

To hear Episode 4 of the Fighting Back Podcast, you have several options. You can listen using the Flash mp3 player above. Or, if you’re a fan of podcast RSS feeds, you can use the Fighting Back Podcast Feed in your favorite feed reader. If you’re an iTunes user you can subscribe and download via our iTunes store. Finally, you can, of course, download this episode using the link above.

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Spinal muscular atrophy (SMA) researchers Tristan Coady and Travis Baughan, from FightSMA Science Director Dr. Chris Lorson’s laboratory at the University of Missouri, will attend and present their studies at the American Society of Gene Therapy (ASGT) Meeting in Seattle, May 30th – June 3rd.

At this year’s ASGT meeting Travis will present, “Modulating SMN2 pre-mRNA splicing: Identification of optimal targets for bi-functional RNAs.” Travis has developed second generation bi-functional RNAs that target repressor elements within SMN2 while recruiting positive factors to facilitate exon7 inclusion. Bi-functional RNAs have two functional domains, one that is a RNA sequence complimentary to the target RNA (in this case SMN2) and another that serves as a binding substrate for splicing factors which in turn promote full-length SMN expression. The original observations concerning the successful application of first generation bi-functional RNAs to alter SMN2 splicing and promote increased inclusion of exon7 were reported in the journal Molecular Therapy, 2006. The current goal of these studies is to validate the effectiveness of bi-functional RNAs in mouse models of SMA. The successful application of this technology in SMA to promote inclusion of SMN2 exon7 can be easily adapted to other diseases that are a result of aberrant pre-mRNA splicing.

Another therapeutic approach being investigated by Tristan Coady is the application of trans-splicing. Trans-splicing relies upon pre-mRNA splicing occurring between two different molecules; the endogenous RNA (for example SMN2) and the therapeutic RNA. The therapeutic RNA used in these studies contains SMN1 exon7 which when trans-spliced will form an mRNA with exons1-6 of SMN2 and exon7 of SMN1. Tristan’s studies have successfully identified trans-splicing RNAs that increase expression of full-length SMN and produce elevated levels of SMN in SMA patient fibroblasts. These studies are currently in press in the journal Molecular Therapy. The functionality of these trans-spliced RNAs is currently being tested in both tissue culture and mouse models. Tristan will present a podium presentation at the ASGT meeting entitled, “SMA Based Therapeutic Trans-Splicing RNAs Repair SMN1 Deficiency.”

FightSMA is a proud sponsor of the 10th Annual ASGT Meeting and will also be present in the Exhibit Hall at booth 324. Visitors to the booth can receive information about FightSMA research funding opportunities and can meet FightSMA scientific representatives Dr. Chris Lorson and Dr. Monique Lorson, both of the University of Missouri.

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The Charlotte Observer on May 6, 2007 ran an article about the Bolton Family who started FightSMA’s North Carolina chapter, Eleanor and Jack’s Buddies, in honor of their two children who have spinal muscular atrophy. John and Holly Bolton attended the FightSMA Annual Conference in Washington D.C. in April where they visited the offices of their representatives on Capitol Hill, including North Carolina’s Representative Sue Myrick.

From the article:

Their mission: Help kids in broken bodies
Couple back from Washington, where they sought U.S. funding to treat neuromuscular disorder
JOE MARUSAK

HUNTERSVILLE — Everyone told John and Holly Bolton not to worry, toddler Eleanor would walk soon enough. She didn’t.Eleanor, now 4, has spinal muscular atrophy, the Boltons learned.

The incurable disorder kills more infants than any other genetic disease. Son, Jack, 2, also inherited the responsible mutated gene. Many kids can still live a long life, but many don’t. “Fifty percent don’t live past age 2,” John Bolton said.

The disease affects kids’ ability to walk; only a few can stand up. It impairs their breathing, forcing them onto breathing machines. In more severe forms, lungs quit or fatal pneumonia invades.

The Boltons returned from Washington last week, where they and other parents lobbied for the proposed SMA Treatment Acceleration Act.

The legislation would establish a national clinical trials network to develop safe and effective treatments for SMA patients and possibly lead to a cure for the disorder that strikes as many as one in 6,000 infants.

“It’s so close,” John Bolton said. “If we had parity in funding from government, it would be a done deal.”

To read the full article, click here.

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