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.
We are indescribably grateful for all the hard work of friends and supporters who put personal time and commitment into organising fundraising events for NA research. All funds are gratefully received and support the vital work of researchers investigating the underlying mechanisms of the disease. Here's a round up of recent and upcoming fundraising events, from coffee mornings to half marathons to plant sales. If you or someone you know is thinking of undertaking a personal challenge such as marathon, ask if they would consider N/A as the beneficiary charity. These individual amounts make a significant contribution to the total annual funds we deliver directly to researchers.
Rare Disease Coffee Morning
February 28, 2014 brought thirty women for coffee at the home of Alex & Ginger Irvine in London, in recognition of Rare Disease Day worldwide and specifically to raise money for NA. Co-hosted by Eva Stock, member of the Board of Trustees, coffee, tea and croissants donated by local shops were served and information about NA was shared. Alex sold her greeting cards and received orders for more! Over £800 was raised for our research. Ginger then attended an event at the Science Museum organised by Alexion Pharma UK to unveil a sculpture of 2000 hands commissioned for this day. The theme was "Raise Your Hand!"
Great range of fundraisers planned for 2014
After our successful spring fundraising efforts we look forward to at least four events in the UK in the rest of 2014:
The Great Hawarden Walk organised again by Gill and Gordon Parry the local walk in North Wales will take place on Saturday, the 10th of May and the sponsorship money will be split between NA and Epilepsy UK.
The second Rare Plants for Rare Disease Research Sale will take place at the home/garden of Sheila and Ralph Averbuch at 1 The Cross, Pencaitland, near Edinburgh in Scotland on Saturday the 24th of May. Many nurseries have promised plants for this event and locals are keen to attend. If you know someone in the area please spread the word!
A Charity Concert will be held in London on November 12th featuring the Linos trio whose pianist Prach Boondiskulchok and others will contribute their time and talent to help support the efforts of the Advocacy. Vernon and Hazel Ellis have generously offered their home/concert venue for this event.
A Christmas Craft Fair will be held at the home of Alex Irvine in London 5-6 December to promote more understanding about NA and raise more funds.
Congratulations and thanks to half-marathoner Andrew Frame
Andrew Frame completed the Reading Half Marathon on 2 March with his colleagues from work and chose NA as his charity. He said before the race: "I'm not a born runner...my parents can't quite believe I am actually going to do it! I'm training regularly and although initially my aim was just to get round I'm hoping not to embarrass myself too much! " After the race he said: "I did it in 2hrs and 8mins in the end, really pleased with myself, it took a lot of will power." Well done, Andrew, for raising almost £1000 including Gift Aid!
Brussels fundraiser
Very dear friends in Brussels, Annie and Martin Klingsheim, helped us to raise funds for research. To celebrate her 70th birthday they invited friends to join them and suggested that they might contribute to one of two chariites including NA Advocacy. The result is a transfer for €815 that was sent recently. Annie and Martin also attended the Rare Disease Day event in Brussels on the 26th of February, organised by Eurordis (Rare Diseases Europe) when they heard talks about Improving Access to Rare Disease Care: The Vision of Patients. Thank you!
In memory of MervynCurry
In tribute to the late Mervyn Curry of Northern Ireland, £843 has been contributed by his wife Claire to our fund to further efforts in research to widen the knowledge about NA. Claire is also "gathering the troops" to participate in a local 10k walk in June to raise more funds. Thank you Claire!
February 28, 2014 brought thirty women for coffee at the home of Alex & Ginger Irvine in London, in recognition of Rare Disease Day worldwide and specifically to raise money for NA. Co-hosted by Eva Stock, member of the Board of Trustees, coffee, tea and croissants donated by local shops were served and information about NA was shared. Alex sold her greeting cards and received orders for more! Over £800 was raised for our research. Ginger then attended an event at the Science Museum organised by Alexion Pharma UK to unveil a sculpture of 2000 hands commissioned for this day. The theme was "Raise Your Hand!"
After our successful spring fundraising efforts we look forward to at least four events in the UK in the rest of 2014:
Andrew Frame completed the Reading Half Marathon on 2 March with his colleagues from work and chose NA as his charity. He said before the race: "I'm not a born runner...my parents can't quite believe I am actually going to do it! I'm training regularly and although initially my aim was just to get round I'm hoping not to embarrass myself too much! " After the race he said: "I did it in 2hrs and 8mins in the end, really pleased with myself, it took a lot of will power." Well done, Andrew, for raising almost £1000 including Gift Aid!
Very dear friends in Brussels, Annie and Martin Klingsheim, helped us to raise funds for research. To celebrate her 70th birthday they invited friends to join them and suggested that they might contribute to one of two chariites including NA Advocacy. The result is a transfer for €815 that was sent recently. Annie and Martin also attended the Rare Disease Day event in Brussels on the 26th of February, organised by Eurordis (Rare Diseases Europe) when they heard talks about Improving Access to Rare Disease Care: The Vision of Patients. Thank you!
In tribute to the late Mervyn Curry of Northern Ireland, £843 has been contributed by his wife Claire to our fund to further efforts in research to widen the knowledge about NA. Claire is also "gathering the troops" to participate in a local 10k walk in June to raise more funds. Thank you Claire!
