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.
Here's a round up of recent and upcoming fundraising events. If you or someone you know is thinking of undertaking a personal challenge such as marathon, ask if they would consider NA as the beneficiary charity. These individual amounts make a significant contribution to the total annual funds we deliver directly to researchers.
Rare Plants Sale for an ultra rare disease (NA)
Sheila and Ralph Averbuch once again organised a Rare Plants Sale for an ultra rare disease (NA) at their home near Edinburgh on May 24th. Sheila supplemented the many plants donated by well known nurseries with her own cuttings and even dug up small specimens for in-the-know buyers. Nurseries participating were Beth Chatto Gardens in Essex; Crug Farm of North Wales; Kevock Garden Plants, Binny Plants and Humbie Dean of Scotland; and Sarah Raven in East Sussex. Raffle tickets were sold and the prize was a "Patience and Juliet" cottage garden roses bouquet by David Austin. The day brought mixed weather but also happy gardeners who were keen to add to their collections for the summer. Local volunteers sold coffee, tea and cakes and Alex Irvine sold her greeting cards. The proceeds of the day plus further sales at a local school and in London the total for the fundraising effort was just over £1300. Wow! Huge thanks to Sheila and Ralph plus the donors, volunteers and buyers. The Great Hawarden Walk
May 10th in Hawarden North Wales brought together locals and friends from afar to do the annual sponsored walk in aid of both NA and the Epilepsy Foundation. Organised once again by Gill and Gordon Parry, walkers were prepared for any weather and children and dogs joined the crowd.
Hawarden Carnival
Gill and Gordon Parry are the parents of David and Mark who both had ChAc and their daughter Sian, who died of epilepsy. They have been been fundraising tirelessly for both charities for many years and we would like to pay tribute to their continual efforts with a photo of one of their many days out at fairs, village fetes and local events. This picture was taken at the Hawarden Carnival in July. Thank you so much for helping us raise awareness about NA.
Great cycle around North Wales
A friend of Mark Parry tries to take part in the Harwaden walk every year. This year he was asked to participate in a cycle ride to raise funds for the local cricket club and two charities. He writes: "As it would be difficult to raise money for two events I decided to combine them into one and as the cycle ride would be deemed to be more of a challenge (and people like to see me suffer), the choice was obvious."
The challenge was undertaken by 13 chaps from in and around the village of Northop, social members of the Northup Cricket Club; the cycle ride was 150km in a loop around North Wales
David describes the day: "We set off in what can only be described as torrential rain (thunder and lightning) on the 7th of June 2014 around 9am, with an actual cycle time of around 6 hours. I am pleased to say all participants completed the challenge intact and we all together rode in together some 7 hours later (elapsed time)."
David donated £400 of his total to NA. We are most appreciative of his efforts and generosity.
Support from Free Schools London Division
Françoise Ryder who works at the Department of Education was in touch to say her Free Schools London Division work team raised a bit more money to add to the NA coffers. £50 has been added to the donation in 2012, bringing the total to just under £500. Thank you again for thinking of NA for your charity gift.
Autumn and Christmas fundraisers planned
A Charity Concert will be held in London on November 10th 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.
In memoriam fundraiser - Mervyn Curry
Claire Curry has succeeded in adding to the generous total of £843 contributed by the friends and family of Mervyn Curry. She was supported by friends who all walked 10K in a sponsored event in Enniskillen. Her co-walkers included Graeme Sowden, Katherine Sowden, Zoe Curry, Joanne McCrea, Martinea O'Reilly, Joe Sheerin, Laura Patterson and Lea Sowden.
Claire is number 508. With the contribution of £300 from the Pipe Band with which Mervyn played, the new total is over £1500. Thank you Claire!
Fundraisers do make a difference
We are forever 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. Did you know that fundraisers like these have raised many thousands for NA research in the last five years alone? If you know enthusiastic marathoners, talented bakers or other craftspeople who would like to put their efforts towards a charitable cause, please let them know about the Advocacy for NA Patients. If they would like to organise an event to support NA research, please contact Ginger Irvine at ginger@naadvocacy.org
Sheila and Ralph Averbuch once again organised a Rare Plants Sale for an ultra rare disease (NA) at their home near Edinburgh on May 24th. Sheila supplemented the many plants donated by well known nurseries with her own cuttings and even dug up small specimens for in-the-know buyers. Nurseries participating were Beth Chatto Gardens in Essex; Crug Farm of North Wales; Kevock Garden Plants, Binny Plants and Humbie Dean of Scotland; and Sarah Raven in East Sussex. Raffle tickets were sold and the prize was a "Patience and Juliet" cottage garden roses bouquet by David Austin. The day brought mixed weather but also happy gardeners who were keen to add to their collections for the summer. Local volunteers sold coffee, tea and cakes and Alex Irvine sold her greeting cards. The proceeds of the day plus further sales at a local school and in London the total for the fundraising effort was just over £1300. Wow! Huge thanks to Sheila and Ralph plus the donors, volunteers and buyers.
May 10th in Hawarden North Wales brought together locals and friends from afar to do the annual sponsored walk in aid of both NA and the Epilepsy Foundation. Organised once again by Gill and Gordon Parry, walkers were prepared for any weather and children and dogs joined the crowd. 
Gill and Gordon Parry are the parents of David and Mark who both had ChAc and their daughter Sian, who died of epilepsy. They have been been fundraising tirelessly for both charities for many years and we would like to pay tribute to their continual efforts with a photo of one of their many days out at fairs, village fetes and local events. This picture was taken at the Hawarden Carnival in July. Thank you so much for helping us raise awareness about NA.
A friend of Mark Parry tries to take part in the Harwaden walk every year. This year he was asked to participate in a cycle ride to raise funds for the local cricket club and two charities. He writes: "As it would be difficult to raise money for two events I decided to combine them into one and as the cycle ride would be deemed to be more of a challenge (and people like to see me suffer), the choice was obvious."
Claire Curry has succeeded in adding to the generous total of £843 contributed by the friends and family of Mervyn Curry. She was supported by friends who all walked 10K in a sponsored event in Enniskillen. Her co-walkers included Graeme Sowden, Katherine Sowden, Zoe Curry, Joanne McCrea, Martinea O'Reilly, Joe Sheerin, Laura Patterson and Lea Sowden. 
