Wednesday, June 18, 2008




Keeping the FAITH

By Larry Sacks


The third annual fundraising dinner dance and auction for FAITH, Friedreich's Ataxia In The Heart, was held on Saturday, May 31 at the Sunnyvale Senior Center.  The theme was “Hawaiian Evening” with guests adorned in Aloha shirts, grass skirts, flower leis and other festive clothing.  Like most fundraisers, the diners, auction items, wait staff, entertainment and most notably, guests of honor, were all present.  Outback Steakhouse continued their tradition by graciously donating a delicious, filling and appetizing dinner as a way to show their support.  However, unlike most fundraisers that typically come to mind, there were no Blackjack or Texas Hold ‘em tables and no gambling associated with television shows of any sort.  The event had all the trappings of just “another” fundraiser, but once things got rolling, the differences became obvious. 


A silent auction and balloon raffle helped get the attendees in the mood and added to the buildup of excitement and anticipation over the live auction items yet to come.  The multiple night stays on Maui and Kauai, as well as the BBQ for 50 were talked about and many ventured guesses at what final price they would fetch.   For anyone attending for their first time, what they weren’t prepared for and probably never would have suspected, was the overwhelming abundance of emotions and tears still to come.  Fundraiser?  By all means, yes, but this also raised people’s awareness about something so rare, it affects only 1 in 50,000 people.   


Friedreich's ataxia is a rare, life-threatening disease that causes progressive damage to the nerves and muscles.  That means it takes great kids and, for lack of a better term, hurts them.  They’re still the same great kids, however, the disease causes them to slur their words, not be able to walk a straight line, causes severe curvature of the spine and heart problems that can eventually kill them at a young age. 


According to the National Institute of Neurological Disorders and Stroke, a division of the U.S. Department of Health and Human Services’ National Institute of Health, the disease is named after the physician Nicholaus Friedreich, who first described the condition in the 1860s. ‘Ataxia’ refers to “…coordination problems such as clumsy or awkward movements and unsteadiness.  The ataxia of Friedreich's ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath — the insular covering on all nerve cells that helps conduct nerve impulses.”


The opening speaker, Bart Rupel, gave an update on the research on Friedreich's ataxia to date.  He was followed by 26-year old Kyle Bryant, the night’s keynote speaker.  Kyle, who also suffers from Friedreich's ataxia, told of his amazing, long-distance bike ride to raise research funds and awareness for Friedreich’s ataxia.  Both Bart and Kyle peppered their presentations with jokes and anecdotes that kept the audience at ease even though the subject matter was disheartening.  Their speeches and presentations provided the perfect lead-in for the next speaker, Matt Rupel. 


 Matt poses with some of his friends


Matt, a 17-year old student at Santa Clara High School, was somewhat of a celebrity that night.  The wait staff was comprised of Matt’s friends – all of whom volunteered to help out.  The organizers of the event were Matt’s parents, Brenda and Bart as well as some of their friends.  Since this was a local event, Matt being local himself, became the center of attention and anyone that hadn’t already met and gotten to know him previously, were about to learn the true meaning of courage, conviction and a positive outlook on life.  Matt spoke with the smoothness that belied the effects Friedreich's ataxia is having on him.  For part of the past year, Matt has had to use a wheelchair (many people with Friedreich’s ataxia are in a wheelchair by his age), but his natural friend-evoking speaking style and approachability allowed him to make light of this as he off-handedly said he had to sit down after his father, Bart, talked for so long.  It was difficult not to get emotional as Matt spoke and told of his story of being diagnosed with Friedreich’s ataxia, the effect the disease has had on his life, his plans for college and the future.  Matt’s natural and easy speaking style made everyone in the room feel comfortable even though most probably weren’t.  Witnessing the reactions of his friends, family and the attendees of the event, it’s easy to see why the FAITH event has grown so much in the short time since Matt was diagnosed 4 years ago.  This makes his affliction that much harder to understand, since he and the other sufferers are nice kids.   And no one ever wants a nice kid to be sick or ill.


 Matt is hugged by his little sister Katie.



The FAITH event has raised approximately $157,000 in three short years for Friedreich’s ataxia research.  But much more needs to be done.  The costs of finding a cure and bringing it to the marketplace are enormous.  It is through events such as FAITH that hopefully a cure will be found and kids afflicted with Friedreich’s ataxia can go back to doing what they do best – being kids.


For more information on Friedreich's ataxia contact Felicia DeRosa at felicia.derosa@...


 Keynote speaker Kyle Bryant with his mother Diane. Kyle suffers from Friedreich’s ataxia.


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!


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:

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:
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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