Welcome to NA News Issue 20
WELCOME to the latest issue of NA News, now celebrating our 10th year of publication. NA News keeps patients, clinicians and our growing community of donors updated with news and resources, as well as funding opportunities for investigators studying neuroacanthocytosis, a group of ultra-rare neurodegenerative diseases. Visit us on the Web or on Twitter at @NAadvocacy, on Facebook and on Linkedin.
Urgent call for McLeod syndrome families
IS there a history of McLeod's in your family? Harvard Medical School researchers working on McLeod's, sponsored by the Willard family, need blood samples now from families whose members may have inherited the McLeod syndrome gene mutation. The research team, led by Dr. Alicia Rivera, is especially eager for samples from individuals who show no symptoms or were diagnosed recently and are not yet taking medication. Please contact Glenn Irvine at email@example.com if you can help with this urgent requirement.
More features, more languages at NAadvocacy.org
GERMAN, Spanish and Portuguese speakers are set to benefit from new native-language content areas on the NA Advocacy website. The site, which has been significantly expanded in the past year, now features the most recent editions of NA News in German and Spanish, and a range of other content is also available in Spanish and Portuguese including the three website tabs of Home, Patients and Clinicians/Researchers. These translations, more of which will follow, have been provided by Natalia Guerscovich, Paula Sarmento and Vera Geraldes. Thank you Natalia, Vera and Paula for your excellent work.
Louise Dreher joins Advocacy Board of Directors
THE Board of the Advocacy is delighted to welcome its newest member, Louise Dreher, who will attend our next meeting in May. Louise was raised in Berkshire in England and attended the University of Aston in Birmingham, where she gained a joint degree in German and Materials Engineering. She combined work in a lab, in offices, teaching English and in translation work, all in Germany. Louise is married to a German and her children are bilingual. Having been a close friend of NA patient Peter Ball, Louise offered to do translation work for the Advocacy and as an Advocate she has been in contact with German speaking patients. Louise was also a good friend to the late, much-missed Pamela Korb.
NA patients from Iran join Patients Registry
WE are always happy to welcome new patients and clinicians into our community and were pleased to be contacted by Siamak Karkheiran MD from Hazrat Rasool Hospital at the Tehran University of Medical Sciences. Dr. Karkheiran reports that he has six patients from four families with ChAc. Five of the patients have been included in the NA Patient Registry and he has also prepared videos from four patients. Please contact firstname.lastname@example.org if you or anyone you know may be able to translate NA News into Farsi. See also Dr. Karkheiran's article in this issue, where he shares suggestions for healthcare providers treating hypersalivation and other oral problems in NA patients.
Mapping reveals global distribution of chorea-acanthocytosis
A NEW visualisation has revealed the first graphical image of the global distribution of chorea-acanthocytosis, following a mapping initiative by Dr. Adrian Danek from Ludwig-Maximilians-Universität Munich, Germany. Dr. Danek, whose team offers a free diagnostic blood test for suspected cases of chorea-acanthocytosis, said the new maps show the sites of origin of the 128 blood samples (i.e. site of the hospitals) that proved negative for chorein, i.e. indicative of ChAc.
IRDiRC summit underscores need for rare disease collaboration
APRIL 16-17 2013 saw the first ever conference of the ambitious new international network, the International Rare Diseases Research Consortium, hosted in Dublin in the context of Ireland's presidency of the European Union.
Managing oral problems in patients with ChAc
PATIENTS with ChAc can suffer several problems involving the mouth, tongue and swallowing muscles due to involuntary movements. These disorders not only cause physical problems, such as lip- or tongue-biting, and weight loss, but can make people with ChAc feel very self-conscious when out in public, and in particular when eating in front of others.
UPDATES this issue from Susan Hills in England, Ed Ayala in Massachusetts and Elyse Weinbaum in Michigan. If you're an NA patient and wish to contact other patients, visit the new NA website and the Patient Centre which allows visitors to register and meet others.
JOSEPH DeVincentis, 63 of Colonia, New Jersey departed from this life on Monday, December 3, 2012. He was at home with his wife and son in Haven Hospice care. Joe was born on April 29, 1949, in Newark, NJ and lived in Irvington and Linden, before moving to Colonia in 1975. He was a graduate of Linden High School, Kean University, Rutgers University, and Montclair University.
THIS issue we hear updates from Dr. Lucia de Franceschi in Verona; Dr. Antonio Velayos-Baeza at the University of Oxford; Claudia Siegl and team at the Medical University of Vienna; Dr. Florian Wegner at the Hannover Medical School and Aaron Neiman at Stony Brook University New York.
WARM thanks for the efforts and generous support of everyone who donated on-line to the Advocacy’s work during the BigGive campaign December 2012. The result was a magnificent £36,000. This included our Pledgers who agreed to match donations up to £7,000 as well as £7,000 from our Champion, Candis magazine. The funds far exceeded the £20,000 raised in the BigGive in 2011. Please read on for more fundraising news: