Wednesday, April 9, 2008

National Ataxia Foundation Annual Membership Meeting 2008

Thanks to the folks from the Arizona Ataxia Support Group, the NAF Annual Membership Meeting held in Las Vegas last month went off without a hitch. The event lasted three days with work shops, speakers, a silent auction and an evening banquet. We, as first timers, thoroughly enjoyed ourselves while meeting other ataxians and their families. Along the way, we saw Dr. Perlman and Mike Fernandes. Here are some of the highlights:

Friday, 3/28, started out with different workshops in the morning. We attended the following:

"Speech & Swallowing" with Gail Lommen who is a Speech Language Pathologist. She suggested the Lee Silverman Voice Treatment in helping with speech problems.

"Accessible Travel" with Cyndi Segroves, a travel professional who herself is mobility-impaired and uses a power wheelchair.

"Dancing with Ataxia" with Thomas Clouse, MD, who himself has ataxia but is able to walk with a normal gait and even dances on a regular basis. He shares his insight on how to regain the ability to walk. We were so impressed by what we saw that we purchased his instructional CDs.

The afternoon was devoted to "Birds of a Feather" meetings for ataxians, parents of ataxians and caregivers/spouses of ataxians. This is a time for people with the same type of ataxia to meet in small, informal groups to discuss and share their experiences and concerns of the disease.

Saturday, 3/29, the day started with talks and presentations by doctors and researchers on the latest about ataxia. Dr. Huda Zoghbi who, together with Dr. Harry Orr, first identified the SCA1 gene in 1993, spoke on "Translational Studies in Spinocerebellar Ataxia". In the middle of her presentation, I had a distinct sense of deja vu. I was convinced that I've seen the research on the mice before, but where? Then I recalled this post that I did back on September 30 last year. Unbeknownst to me at the time of that post, the speaker on the Youtube video was Dr. Huda Zoghbi! It was, however, much more exciting to hear Dr. Zoghbi speak in person.

The last person to speak that morning was Dr. Chip Wilmot. He spoke about "Ataxia Patient Registries". In order to facilitate both researchers and patients with ataxia in obtaining up to date information on the disease, it is vital that all ataxians register themselves with the Cooperative Ataxia Registry. As of now, only 370 people have registered. One of these 370 is Richard. 36 of these 370 people have SCA3. We are sure that there has got to be more than 36 MJD-ers in the United States alone. Please consider registering if you're an ataxian. Dr. Wilmot will be happy to answer any of your questions regarding the registry at:

Emory Ataxia Center
404-728-4782 (direct line, please ask for Cathy Wood)

Doctors Wood, Subramony, Schmahmann, Orr and Fahey spoke in the afternoon session. We feel privileged to actually see and meet researchers (Subramony & Orr) whose picture and articles appear regularly in Generations at the meeting.

The silent auction and NAF banquet rounded out the evening.

Sunday, March 30, our beloved Dr. Perlman started the morning with her presentation "FRDA Clinical Trials". Her talk was not just about Friedreich's Ataxia alone. She spoke at length on the most recent clinical trials on different types of ataxia and issues pertaining to clinic trials in general. She reminded people to do their part by registering with the Cooperative Ataxia Registry. For more information about ongoing clinical trials in the U.S., please go to:

Dr. Arnulf Koeppen spoke about "Brain Tissue Repair in Herediatary Ataxia". He was followed by Dr. Broyna Keats who talked about "RNAi Research". Dr. Keats wittily called her speech "Shooting the Messenger". RNAi refers to the method of RNA interference to silence or prevent the mRNA (the "messenger" RNA) of a certain gene or genes from being expressed. Doctors Andrew Fire and Craig Mello were awarded the Nobel Prize for Medicine in 2006 for their discovery of RNAi. I wrote about our recent encounter with Dr. Fire here. Dr. Keats also told the audience that there is already an experiment done on SCA1 infected mice using the RNAi technique. This is encouraging news indeed even though human trials are in the very distant future.

The three day conference came to a close by early afternoon on Sunday.

We were told, unofficially, that next year's NAF Annual Membership Meeting will be held in Seattle, WA. See you then!

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