Website Edition: August/September 2010

The Advocacy for Neuroacanthocytosis Patients

By Glenn and Ginger Irvine
The Advocacy for Neuroacanthocytosis Patients
London, UK
Special to The Movement Disorder Society

"What can I do?" you ask yourself as you leave the neurologist who has told you that a very rare disease called neuro-acanthocytosis (NA) is slowly destroying your caudate nucleus and badly affecting your speech, eating, walking and arm movements, as well as causing the jaw spasms that painfully damage your cheeks and lips. You may not yet be 30, but your longed-for independence is gone.

What can you do but try to share with the few others who live with the disease and encourage doctors and scientists to work toward a cure? The Advocacy for Neuroacanthocytosis Patients (www.naadvocacy.org) was established in 2002 by a group of friends and family members who share the experience of NA. We support NA patients and the development of clinical and basic research aimed at alleviation of the disease.

NA syndromes are so rare that patients and families frequently feel isolated and are desperate to communicate with others who have an understanding of the traumatic experience of being diagnosed with this devastating condition. Since 2002 a Yahoo Group has been used by patients to ask questions, share experiences and exchange information throughout the community of subscribers. We also publish an e-newsletter, NANews, several times a year that relates patients' experience as well as updates on related research activity. Individual patient advocates speaking English, French, German and Spanish are actively in contact with patients or their families. We are experimenting with social networking media to find ways of building support for NA patients and research.

Supporting scientists is another important role. The Advocacy helped finance the first continuing effort to understand and treat NA, initiated by Adrian Danek, MD, at Ludwig-Maximilians University in Munich, Germany. In 2002, the first international symposium, which took place in Germany, brought together colleagues from Australia, Europe, Japan, Singapore, and the United States. In 2004 the first book on the NA diseases was published with the financial support of the Advocacy. Further symposia have been held at the Montreal Neurological Institute (2005); Kyoto Prefecture Medical University (2006); and the National Hospital for Neurology and Neurosurgery, London, in conjunction with the Wellcome Center for Human Genetics, Oxford University (2008). With support of the National Institutes of Health and The Movement Disorder Society, a fifth symposium is being planned in collaboration with the NBIA (Neurodegeneration with Brain Iron Accumulation) Association for October 1-2, 2010, in Bethesda, Maryland, USA (Website: www.naadvocacy.org). A second book containing the latest research on NA was published in 2008.

Professor Danek, supported by the Advocacy, provides a free diagnostic service that tests blood samples for the protein that is absent in ChAc, which has greatly facilitated diagnosis of ChAc (www.nefo.med.uni-muenchen.de/~adanek/Chorein_Blot.pdf). The diagnostic service has reduced the time to diagnosis from years to weeks. In addition, new cases that have been identified around the world are entered into a database of cases housed on the website of the European Huntington's Disease Network. This provides the foundation for research into the natural history of the NA diseases and is a future source of candidates for clinical trials of new drugs.

Glenn and Ginger IrvineThe Advocacy, which receives donations from patients, their friends, and several foundations and charitable trusts, helps bring together approximately 70 clinicians and researchers from around the world. Since the founding of the advocacy in 2002 donations in excess of $500,000 have financed symposia and publications as well as competitive grants and fellowships in support of research into the basic science of NA syndromes and their relationship to neurodegeneration. We hope to achieve the treatment and alleviation not only of NA, but also Alzheimer's, Huntington's and Parkinson's diseases.

Photo: Glenn and Ginger Irvine founded and work on behalf of The Advocacy for Neuroacanthocytosis Patients.