The first signs of the diseases in the neuroacanthocytosis (NA)
group are subtle and easily overlooked. Initial symptoms, which
often occur in the person’s mid 20’s, may include
grunts or tic noises made unconsciously in the throat, progressing
to drooling and problems in controlling the tongue from ejecting
food. Involuntary biting of the tongue, lips and/or cheeks may
follow.
At the beginning there can be a general, slight physical
awkwardness. Things on a shelf are knocked off for no apparent
reason. Difficulty with walking and balance can also be early
symptoms. Problems controlling trunk, leg and arm movements are
often barely noticeable at the beginning, but become increasingly
difficult as the disease progresses. Several patients find it
difficult to sleep at night and others report fatigue and weakness.
Personality change may also be an early indication. The carefree
young adult becomes obsessive-compulsive and uncharacteristically
forgetful or just loses confidence or drive. Fainting or epileptic
seizures may also occur. Mood changes may happen and a person often
becomes isolated, in part out of embarrassment.
There are several reports of the problems beginning after a
traumatic event including physical attack, unexpected failure of an
exam and birth of a child.
CLINICAL SIGNS
A defining symptom that is not apparent is the spiky red blood
cells, or acanthocytes, from which the NA disease group takes its
name. These unusual blood cells can be observed with a microscope
in some circumstances. Still more difficult to observe are the
alterations or mutations in patients’ genes. Each of the NA
group diseases has a different genetic characteristic that can be
determined only by blood tests.
A person showing some of this pattern of symptoms should see a
neurologist. Clinicians and patients can also visit www.naadvocacy.org
for links to further scientific reports. Full details are also
available on the free blood testing service offered by the Advocacy
for Neuroacanthocytosis Patients, aimed at helping determine a
definitive diagnosis for NA.
:: Useful NA
Resources
Neuroacanthocytosis Syndromes II, published December
2007, the book provides a profound insight into recent
developments within the field of neuroacanthocytosis syndromes.
Edited by Ruth H. Walker, Shinji Saiki and Adrian Danek.
Available at amazon.com
A Western blot test for the presence of chorein in the
membranes of red blood cells can be offered free of charge due to
support of the Advocacy for Neuroacanthocytosis Patients'.
Download instructions on the blood sampling and specimen shipment
as a PDF
or get more information on the method at PubMed
The entry for chorea acanthocytosis in GeneReviews
is the most complete, readily available report on ChAc. Published
by the University of Washington with the support of the National
Institutes of Health
A dedicated Patient & Families Support Group at Yahoo
Groups offers patients and families information, advice,
support or just an understanding ear
Visit PubMed for access to NA
research in English from the Medline database.
Visit the NA page on WeMove,
the Movement Disorder Societies charitable and educational
associate
:: naadvocacy.org
naadvocacy.org is the website of the The Institute
for Neuroacanthocytosis. It is the Advocacy's international
centre for supporting patients and promoting clinical and basic
research. The website provides access to resources found on
the website.
What does it take to be a Patient Advocate? Louise Dreher, our advocate for German-speaking patients, has shared why she volunteered to be a patient advocate, what her role is and why it is important to patients and the Advocacy:
What does it involve?
Maintaining contact – by e-mail or phone – with patients/families. Skills needed: Empathy and initiative
Providing information/contacts for patients, occasionally liaising with medical professionals or other organizations, enabling patients/families to share their own experience if they would like to and translating. Skills needed: no need for medical expertise or expertise in NA, but proficiency in English and another language is needed
Who gains what?
The role is so rewarding because patients and families know there is someone “on their side”; they can access more information more easily and perhaps become less isolated by expanding their horizons. Advocates also develop their personal skills and meet new people, with the potential to form real friendships. And everyone gains from fighting NA together and driving towards a cure.
So really the question is: why not volunteer as a Patient Advocate!
Could you help by becoming an advocate? We are particularly keen to find people with competence in Russian, Italian, Urdu, Japanese, Chinese, French, Turkish, Arabic, Farsi and Hebrew. ? If you would like to join the team, please contact ginger@naadvocacy.org to discuss opportunities.
Louise Dreher, our advocate for German-speaking patients, has shared why she volunteered to be a patient advocate, what her role is and why it is important to patients and the Advocacy:
