Similar to muscular dystrophy, Friedreich's ataxia causes a gradual loss of muscle control and function. Even speech is affected. In Westfall's case, his words are slightly slurred and his voice frequently breaks pitch when he speaks.
Cardiac Threat
One of the major symptoms that separates Friedreich's ataxia from other neuromuscular diseases is its impact on the heart.
The Web site of the National Institutes of Health says that heart disease is the most common cause of death among those with Friedreich's ataxia. Not everyone with the disease develops heart problems, but among those who do, the life expectancy is about 40.
Westfall was hospitalized in 2005 for an episode of atrial fibrillation. He was living in Seattle at the time, working as a software designer for Microsoft. The threat to his health frightened him and forced him to move back to his mother's Murrieta home.
That's when he hooked up with trainer Ed Farrell at a local gym. Farrell had also worked for Microsoft and the two formed a quick bond.
"We always had something to talk about," Westfall says.
Although he had begun working out regularly three years earlier, Westfall says Farrell was able to design a regimen of exercises more closely geared to Westfall's needs. Under Farrell's guidance, Westfall says he saw his health improve.
"The benefits to me personally are awesome," he says. "If I didn't work out to better my health, I probably would have succumbed to this disease a long time ago."
Benefits of Exercise
Westfall says he sees the other side of the coin all the time.
"People with the same condition as me and who don't exercise, they're in horrible shape," Westfall says. "They just don't do very well at all. Lately, I've noted that a lot of people who do nothing die in their 20s."
Dr. Susan Perlman is a neurologist and the director of the UCLA Ataxia Center. She says ongoing research shows there is merit to Westfall's approach. Two decades ago, she did a small study with 25 patients who had neuromuscular disease, putting them on an intensive exercise regimen.
"We could take someone at almost any stage, and over six weeks we could improve their performance a full grade," Perlman said. "If they were in a wheelchair we could get them into a walker, if they were in a walker we could get them on a cane. This was over 50 percent of the patients. We were convinced that exercise does help."
Perlman is one of several researchers throughout the country currently working on a study assessing the impact of exercise and lifestyle on 400 subjects with neuromuscular diseases. She expects to find similar results to those of her first study.
"The use of exercise will keep people (functioning) at a higher level for a longer period of time," she says. "Can it slow the progression of the disease? Probably not on a molecular or genetic level, but it can certainly improve quality of life. Patients who exercise feel better."
Fitness trainer Farrell, 46, of Murrieta, says he wishes everyone had Westfall's motivation.
Staying Motivated
"If we could get his attitude in everybody else we'd be doing really well," Farrell says. "His motivation and his outlook are tremendous. I wish everybody had more of that."
Farrell says he had never worked with a client handicapped to the degree that Westfall is. But his training program required only minor adjustments.
"For the most part, you don't do anything that's drastically different," Farrell says. "With him we couldn't do much leg work, but the basics still apply. There's certain things with everyone that you need to work on."
Last summer, Westfall moved to Lake Arrowhead to escape the heat of Murrieta, which he felt was making his condition worse. Farrell worked with him on the DVD, but they no longer work together in the gym. Westfall has his home equipment and stays in shape with that.
He says he spent two years and about $50,000 producing the video, which features Farrell, along with medical and nutrition experts giving advice on healthy living. While the initial inspiration was to help others with neuromuscular disorders, Westfall says the information on the video is applicable to anyone.
"My overall message is, 'Everybody should do something,' " he says. "Even 20 minutes a day will vastly improve everything. Neuromuscular disease or not, trust me, it's going to benefit you in many, many ways."
Information on the Westfall Foundation and the video "Commit to Your Health," can be found at www.westfallfoundation.org. Information on Friedreich's ataxia is available at www.curefa.org
PM PDT on Saturday, April 25, 2009
By MARK MUCKENFUSS
The Press-Enterprise  
Reach Mark Muckenfuss at 951-368-9595 or This email address is being protected from spambots. You need JavaScript enabled to view it.
 
Link to this article : http://www.pe.com/localnews/inland/stories/PE_News_Local_S_westfall26.35d6ec9.html
Source : FAPG (Friedreich's Ataxia Parents Group) http://www.fortnet.org/fapg/

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.

 

 

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