Ten ways you can act now to bring a cure for NA closer
Patients who suffer from NA diseases come from all walks of life and all corners of the globe, but all have one thing in common: that feeling of helplessness when first diagnosed with neuroacanthocytosis. So many things about NA are overwhelming: there are so few cases; so little is known about how the genetic mutations bring on such severe physical problems; there are no coordinated conclusions about the effectiveness of drugs or deep brain stimulation.
|Fundraisers like Katie's marathon last year have raised almost a third of the funds we need to develop an in vivo model of NA|
So what can you do if you are diagnosed? There's a great deal, and you can start today. Here are the top 10 ways you can fight back against the disease that we are all committed to beating:
Confirm the diagnosis: get confirmation by sending blood samples for the Western blot test for chorea-acanthocytosis. It's completely free, supported by the Advocacy and Ludwig-Maximilians University in Munich. Click here for full details about the Western blot test
Ask your doctor to register your case: as well as keeping your own patient's diary, you can collaborate with your physician by asking him or her to register your case and the details of changes in your condition in the NA REGISTRY. Doctors will record the patient’s history and report on the results of an examination according to a consistent protocol; this may take an hour or longer if the doctor is able to arrange to take a video recording of their patients. Don't be shy about asking your doctor to help; they probably feel as helpless as you do in the face of the diagnosis of NA and will be keen for a practical way to help.
Support Vienna researchers with blood samples: Patients and physicians can collaborate right now with researchers who are investigating the causes of NA. The researchers need blood samples for their work at the Medical University of Vienna. Contact Claudia Roos PhD or read more in last issue's description of the Vienna research.
Keep a patient's diary: record how your condition changes, and share it with Benedikt Bader MD who is compiling a comprehensive collection of case records, which is invaluable to researchers. Contact Dr. Bader by email
Reach out to other patients: share your experiences on the Yahoo NA Group or write a blog. Correspond with Ginger Irvine at NA Advocacy.
Share therapies that work for you: whether you write to us here at NA news or share your experiences online, we want to hear from you if there are techniques, assistive technologies, or other advice you can offer to other patients dealing with common problems like communication, eating and exercise.
Raise money with a sponsored walk or run: the Advocacy for Neuroacanthocytosis Patients is working tirelessly to raise enough funds to develop an in vivo model of ChAc, and fundraisers organized by families and individuals have made a huge contribution to this fund. Sponsored walks and marathons are a favourite, and collecting support donations is easily done online.
Raise funds with a sponsored golf tournament: this is another great idea, which we first saw from the Parry family. In fact the Parrys have also organized fund-raising by selling books and home-made greeting cards, as well as organizing a bridge tournament. There really are no limits to what is possible! For fundraising ideas or information, e-mail Glenn Irvine.
Leave your brain tissue to science: donation of brain tissue is a very precious, very special way in which NA patients can help the cause of research after their death. Invaluable information about the effects of NA on the brain can only be found by a post mortem examination. Many patients have already consented to donation: read here to see some helpful insights into how one mother decided to approach the question of brain tissue donation with her daughter.
Keep yourself and your doctor informed: We are a small community. That makes all patients and their families as well as their doctors the keys to progress. Encourage your doctor to sign up for NA News, and to stay as informed as possible about developments in research into the basal ganglia, the area of the brain affected by NA. The more people talk and know about NA, the greater our chances of ultimately defeating it.