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Patients

Alex Irvine and Pete Clark
English

Welcome to Patients, Families and Carers. To read stories of some patients' experiences, start contact with other patients and/or their families and get more information please click on Our Patients.

We are grateful to RareConnect, a service provided by Eurodis (Rare Diseases Europe) and NORD (National Organisation for Rare Diseases in the US) for this facility that is available in five languages.

The Advocacy aims to provide up-to-date information and one-on-one communication with patients and their families. Please contact us with any questions and we will endeavour to refer you to the person you need to meet. Advocates can communicate in German, French, Spanish, Italian, Korean and Portuguese.  

           

            Ed Ayala                    Kim Sonnet                 Tim Hayes               Jon Pedersen           Marika Critelli 

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. 

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:

1. 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.

2. 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.

3. Support 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 a number of centres. Contact Ginger for more information.   If McLeod's syndrome is in your family and you have young male adult relatives who have no symptoms, they could make a valuable contribution of blood samples to Alicia Rivera PHhD at Children's Hosptal Boston.  Pleases contact Dr. Rivera at Alicia.Rivera@childrens.harvard.edu

4. 
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. Also read a fuller description and the process to contribute in the UK at:  https://www.hta.gov.uk/guidance-public/brain-donation; in other regions please contact Ginger or Adrian Danek.

5. Reach out to other patients:  share your experiences on the Rare Disease Neuroacanthocytosis website or write a blog. Correspond with Ginger Irvine at NA Advocacy or contact patients directly through the MEET section of the Patients' section of this website.  Correspondence is safe and translations into European languages can be requested.

6. Share therapies that work for you: whether you write to us here at NA 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.

7. 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. Use our site at BT Donate. Gordon and Gill Parry and their extended family in North Wales 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 some examples see Fundraising ideas or to discuss, e-mail Ginger 

8. Keep yourself as active and healthy as you can: continual work with physio, occupational and speech therapists maintains your ability to do as much as you can for yourself.

9. Keep a patient's diary: record how your condition changes, and share it with us; a comprehensive collection of case records is invaluable to researchers. e-mail Ginger

10. 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.