There are two important action items floating in the mitocohondrial community right now. I hope if these opportunities apply to you you'll take them on!
1. UMDF has started an international patient registry. Go to WWW.UMDF.ORG and start the survey. I filled it out for both me and Will in less than 25 minutes. This is one of the best opportunities we have as a mitochondrial disease community to help work with researchers. If they can't locate patients, clinical trials and viable treatments and a cure will take longer.
They have maxed out on the privacy and security issues. I liken the amount of privacy and security to a Vegas casino. I think I spent more time on the privacy element than answering the questions. The registry also has a really cool feature where you can see how the other participants are answering. Eg. Are you a boy or girl and it shows the percentage of how many boy/girl are participating.
2. Columbia University is doing a mitochondrial replacement therapy survey. Essentially if you have a known mtDNA mutation you should contact them.
Kris Engelstad MS CGC, Genetic Counselor and Clinical Coordinator, Columbia University, Department of Neurology, P&S 4-424, 630 W. 168th St, New York City, NY 10032, e-mail: firstname.lastname@example.org, Phone: 1-212-305-6834, Fax: 1-212-342-6865
I filled out some basic HIPPA and release form paperwork that Kris emailed me, then sent it off in the mail - took more time to print it than it did to fill it out. You don't have to approve of the potential therapy, they are looking to gauge how people feel and think about it. You're not signing up to be in a trial, essentially it's just easy paperwork.
So, if you think about it... No participants. No research. No clinical trials. No treatments. No cure.
I urge you, NO EXCUSES!
Many of you have seen the ALS Ice Bucket Challenge - WOW! What an inspiration. I am friends with a young lady who lives with mitochondrial disease. She's trying to start a similar campaign but instead, smashing an egg on your head. (get it? Mitochondria are in women's eggs?) I think it's commendable that she's trying. Are you inspired to find a national "mito movement" to help raise money? Post a comment with your idea. Maybe we'll start our own trend. It should be noted that ALS and Mitochondrial diseases are linked - so for those of you pouring cold ice on your body, thanks! You're also helping an element of mitochondrial disease research.