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.
David Lewis, head gardener at the Rooftop Gardens with the Virgin Babylon Restaurant in Kensington managed to finish the course with colleagues from the Virgin Enterprise.
The Advocacy was thrilled to have a runner in the London Marathon in April. David Lewis, head gardener at the Rooftop Gardens with the Virgin Babylon Restaurant in Kensington managed to finish the course with colleagues from the Virgin Enterprise despite work commitments preventing him from training as much as he had planned. His colleagues encouraged him at the start and David finished because "although it's really, really painful I knew it would be worth it as it was for a very good cause". And as the outfit was already bought he knew he did not have another occasion to wear it!
David manages the garden club at the garden and is contributing this year's income from the four meetings and raffles to NA. We are truly grateful for his thoughtfulness and are pleased Virgin provides this opportunity for David to contribute to a local charity. Well done, David!
Rare Plants for Rare Disease Research
Ralph and Sheila Averbuch
May 6th just outside Edinburgh brought together local Scots and over 350 plants for sale- all organised and managed by Sheila and Ralph Averbuch, our highly-valued friends who have voluntarily edited and published on-line 18 issues of NANews. When Sheila broached the subject in the spring she intended to make cuttings and sell them with others she had. On reflection she decided she hadn't enough plants so wrote to nurseries with the tag line of "Rare plant sale for a rare disease" and received over 300 plants from numerous rare plant suppliers! Boosted by targeted marketing and word of mouth they managed to raise over £1000. What a fantastic outcome. Our thanks to them both.
Hadrian's Wall
Fergus and Anna Cumming with Sophia Berry
Team FAST (Fergus,and Anna Cumming and Sophia Berry[...Team?]) was ready at the start line by Carlisle Castle early on Saturday 23rd June 2012, ready for the adventure that lay before us. The 71 miles, several notable hills and the impending inclement weather could not detract from our enthusiasm for getting on with what we had set out to do. Sophia had the first leg of 15 miles, which she completed with ease in a solid time to get Team FAST going before the weather really hit. Fergus was less lucky on the precipitation front but the 17miles still seemed to fly by. Perhaps the worst part of the journey was when my iPod managed to malfunction – leaving the volume on full and one particular song on a constant loop for about 15 minutes. But by that point it didn’t matter. We had reached the campsite and pitched our tent in time to enjoy the company of the other weary challengers before the sun set over the serene (yet heavily waterlogged) field.
Sophia continued the journey just after dawn on day 2. Some of the hill ascents required more “scrambling” than running but the checkpoint at 13 miles greeted her with sunshine and lots of rehydration. Anna then took the metaphorical baton (and literal timing chip) and set off on the longest leg of the route, a full 19 miles across fells, paths and roads. The final 7 miles was all downhill, finishing over the Millennium Bridge at Baltic Quay in Newcastle. Team FAST was tired but elated; we had come third out of more than 15 teams and had seen so much beautiful countryside. 2000 years after Hadrian first commissioned the project, for us, the adventure was finally over and raised a little more than £2000. Reporting by Fergus Cumming.
One of Fiona Fleming's watercolour reproductions
Card sales for NA
Our Spanish language advocate, Fiona Fleming has suggested we sell greeting cards with watercolour reproductions of everyday Scottish life painted by her friend Charlie Orr. This is another fundraising idea which many people do to raise funds for research into rare diseases. They are being offered for sale at St. Columba's Church of Scotland in London. Hawarden Walk
North Wales annual walk
Once again Gordon and Gill Perry organised the walk in North Wales with contributions going to both NA and Epilepsy. A fuller report will come in the next newsletter.
