Neuroacanthocytosis (NA) Community

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Up before the count

Great News my book Up Before The Count is finally out for sale so go to www.edwinayala1969.com and check it out today!
Author Edwin Ayala was diagnosed with the extremely rare and incurable condition called choreacanthocytosis in 2003. This is his story. The condition is so rare that little information on this disease is available, but here is a brief synopsis: known as ChAc it has no known cure and its cause is not definitively known. Difficult to diagnose, its symptoms include fatigue, loss of speech, loss weight due to involuntary biting of the cheeks and tongue, difficulty in swallowing, and involuntary muscle movement. To learn more about this progressive disease, visit http://www.rareconnect.org.

gingerirvine
moderator

Great news Ed- well done- will be in the next NANews!!

Thanks a billion

Good for you. very exciting news!

Operazione di neurostimolazione

Volevo rispondere a Massimiliano cui hanno consigliato al Besta l'operazione di neurostimolazione. Come ho scritto qualche mese a mio marito hanno diagnosticato una neurocantocitosi di Mcleod. E 'in cura al Mondino di Pavia e hanno consigliato anche a lui l'intervento, così come hanno fatto al San Martino di Genova da cui eravamo andati per un consulto.

Volevo sapere, se posso, se al Besta il neurologo che la segue lavora in equipe con uno psichiatra e se anche lei avverte forti crisi di ansia generalizzata accompagnata da disturbi ossessivo-compulsivi che sono, mi dicono i medici, gli aspetti psichiatrici caratteristici della malattia.

Grazie

o ti rispondo si alle tiel

Ciao rispondo.
si alle tue domande c'è uno psicologo nell'equipe anche io disturbi ossessivo compulsivo ma il mio problema maggiore e che mi mordo continuamente le labbra l'interno delle guance causandomi ferite e dolore riesco a mangiare solo frullato

deep brain stimulation

I'm looking forward to doing an operation deep brain stimulation

martacampabadal
moderator

WE ARE LOOKING FOR PEOPLE AFFECTED BY CHOREA ACANTHOCYTOSIS FOR A RESEARCH PROJECT

If you or your loved one is affected by Chorea acanthocytosis you might find this message interesting.

****
We are looking for people affected by Chorea acanthocytosis worldwide. The reason is the launch of a research project with two main objectives:

- Create a therapy to stop and combat chorea acanthocytosis.
- Make a screening of drugs for other diseases with similar symptomatology that can offer improvements in symptoms produced by Chorea acanthocytosis ..

We need to know the number of people diagnosed with chorea acanthocytosis to inform and give the lab relevant data on the impact of the disease and share the results with the patients who would like to stay informed.

If you want to collaborate with us we’d ask you to get in touch with us as soon as possible:
- Alejo Montoliu, leader of the research project: Alejo.Montoliu@agentes.novobanco.es

- Marta Campabadal, RareConnect Coordinator at EURORDIS: marta.campabadal@eurordis.org

If you have any questions or want to know more about this project do not hesitate to contact us.

Regards,
Marta

Pain

Hi my husband Paul has na and had a deep brain stimulator fitted 2 years ago which does help. However recently he has been having really bad pains in his leg (particularly his right leg). Does anyone else suffer with pains and if they do can you recommend anything that may help? Thanks

my kid' s

We found out that our son and daughter has the rare disorder called chorea -acanthocytosis. it's been hard to deal with the dropping of things in the middle of the night . And trying to understand what they are saying ! It's very frustrated to keep our cool and not yell at them.
Is their any one out there that has a child that has chorea - acanthocytosis ? how do you deal with it??

Tihana
moderator

Dear Rosemary, thank you for joining RareConnect!

my name is Tihana and I work with EURORDIS as an online community manager on RareConnect. As we have a community for Neuroacanthocytosis I moved your post to the Meet section of this community, so you can meet other people with experiences with Neuroacanthocytosis.
Feel free to ask questions here and also check the other sections of this community to read stories of other families and find interesting articles and information about Neuroacanthocytosis. In the Members section you can also find a map with the locations of other members.

louise_d
moderator

Hi Rosemary.
Welcome to the NA community. There are a few patient families among the members. Which country do you live in?
Best wishes, Louise

CHOREA ACANTHOCYTOSIS in Argentina

I might have chorea acanthocytosis. I'd like some information about this disease and how I can be tested for this.

martacampabadal
moderator

Hola -2837,

Bienvenido a la comunidad de Neuroacantocitosis. Porque sospechas que podrías tener esta enfermedad?
Personalmente no conozco ningún experto en Argentina, pero te animo a visitar la sección Miembros de la comunidad donde hay un mapa del mundo y podrás ver si hay otros miembros de esta comunidad que sean de Argentina.

Has contactado con la federación argentina de enfermedades raras? Quizás ellos podrían ayudarte en tu búsqueda?
http://fadepof.org.ar/

Sé que hay otro usuario de Argentina. Este es su perfil: https://www.rareconnect.org/es/profile/car...

Un saludo!

hola gracias por contestar te quería preguntar como me contacto con el que esta aca en argentina porque me gustaría saber si la hija tenia la misma enfermedad que dicen que tiene mi hijo y saber como puedo hacer para que le hagan los estudios se que se hacen gratis en estados unidos y alemania ,dicen que tiene coreaacantositocis hace 6 años que estamos en vueltas ,espero tu respuesta saludos

martacampabadal
moderator

Debes hacer clic al enlace que te lleva a su perfil: https://www.rareconnect.org/es/profile/car...

Luego le envías una solicitud de amistad. Una vez Carlos la haya aceptado, podrás enviarle mensajes privados a través del enlace "Contactar" que también está en su perfil.

Puedes hacer lo mismo con esta usuaria que también es de argentina:
https://www.rareconnect.org/es/profile/ana...