Neuroacanthocytosis (NA) Community

Meet, discuss & support other patients or families living with Neuroacanthocytosis (NA). Contribute to topics, or just share what's on your mind.

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deep brain stimulation

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

Mi hanno appena comunicato che la regione Lombardia non effettua più operazione dbs Su malati di neuroacantocitosi

Neurologist specialized in NA

Hello everyone, I would like to know if any of you is in care with or knows an Italian hospital, besides the Besta in Milan, where there are neurologists dealing NA... my sister is in care in Milan but the doctor is hardly contactable also for help or suggestions. Thank you very much.

Notice: This text content has been translated automatically by a third-party service.

formerEURORDISstaff
moderator

Ciao,

Grazie per il tuo messaggio.

Questi membri sono tutti da Italia:
https://www.rareconnect.org/it/profile/lau...
https://www.rareconnect.org/it/profile/Peppe
https://www.rareconnect.org/it/profile/bar...
https://www.rareconnect.org/it/profile/lau...

Andare al loro profilo
Invia loro una richiesta di amicizia
Dopo accettano, tornare al loro profilo ed è possibile inviare loro una messsage privato

Grazie,
Rob

Sicuramente presso l'ospedale di Verona (italia)
tramite ricercatrice telethon di corea acantocitosi Lucia de Franceschi
un saluto
Marco

There is hope...

I have been treating a patient for 3 weeks, and it seems very promising

Hi there. I am a nurse studying Traditional Chinese Medicine. I meet a patient suffering from NA, and really wanted to treat him, as he seemed like a normal person, locked in a body foreign to him, with no hope at all. The neurologist had told him, that from here it would only decline. He was on different drugs for the attacks of tics and spitting involuntary. He came to our clinic, because he had been grinding his teeth, and developed a huge sore on his tongue, that should be biopsied. I started to treat him 3 weeks ago with acupuncture, and he is really improving. In our clinic he had his teeth fixed and got a night guard that helps him a lot. At first it was fitted for his lower teeth, but because he could not keep it in his mouth for long, because of the tongue movements, we fitted one for his upper jaw, which works very well for him. He sometimes seems almost "normal", with only few tics. He has had 8 treatments so far, and has been able to do many things that for a long time was impossible. He can pick up his daughter from daycare, care for her, and function close to normal. He needs half the drugs he used to take, and this is after only 3 weeks of treatment, 2-3 times a week. He also listens to relaxation soundtracks, which also seems to be helpful. So don't give up, there is still hope for improvement. I hope, that when he has gotten more treatments, that he will be able to go back to work...All the best to all of you...

Hello Jael, its been about a year since your post. Can you please provide an update? I am curious and excited! I can't wait to talk to my older sister and brother who were recently diagnosed with ChAc and have been sufering this condition for more than 15 years.

Hello Jael, I too am interested to know more. My spouse is diagnosed with NA.

Thanks
Greg

McLeod syndrom

Hello
I am Christian from Paris (France)
I am looking for someone who have the desease of McLeod syndrom

Tihana
moderator

Dear Latchman,

welcome to RareConnect! My name is Tihana and I work as an online community manager on RareConnect.

There are a few conversations about McLeod, so I tagged them to make them easier to find. You can see them all here: https://www.rareconnect.org/en/community/n...

And there is also a story regarding McLeod here: https://www.rareconnect.org/en/community/n...

You can write on these topics to get more information but you can also send friend requests to the authors of the posts, and once they accept you can send them private messages.

Best,
Tihana

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

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