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

Como ayudar como familiar

Hola, quiero expresar lo que hoy pensaba digo hoy porque siempre pienso en mi hija y su triste final debido a esta enfermedad. Uno de los problemas de esta enfermedad es la deglucion, expullsan el bolo alimenticio hacia afuera en vez de ingerirlo hacia la faringe. Es muy grave esta situacion alterando su inrtegridad alimentaria y me preguntaba despues de haber visto en la tv grandes genios de la informatica que aplican programas para juegos o para cosas serias ya sea salud, economia y otras ciencias. Nosotros no podemos ser pasivos ante una situacion y ante uno de los sintomas mas crueles de esta enfermedad. Mi pensamiento se basa en la union de medicos y profesionales de la informatica para que se estudie y ponga en practica algun metodo para que esos pacientes puedan alimentarse correctamente. Pidamosle al mundo que se una a esta idea aunque sea tan ridicula o tonta; otros quizas mejoren esta propuesta y me parece bien pero hagamoslo, se que hay personas muy inteligentes que lo pueden hacer pero si nos quedamos solamente en mirarlos y no hacer nada esrto nunca se va a solucionar. Otros se ocuparan de otra cosa pero hagamoslo. Miraba la foto de mi hija con su piel suave y su cabeza rubia hermosa. El que no sufrio con elos esta enfermedad no lo puede imaginar ni sentir. Su final fue con la cabeza cocida llena de hematomas la cara, estaba desfigurada que triste para los padres ver a esa hija que crecio hermosamente y ver ese triste final con la cara desfigurada por los golpes. Entonces GENIOS DE LA INFORMATICA A UNIRSE CON LOS CIENTIFICOS PARA INVENTAR ALGO PARA CUIDAR SU CABEZA ANTE LAS CAIDAS QUE ELLOS PADECEN. Familiares publiquemos al mundo esta enfermedad, pidamosle a la comunidad cientifica el cual incluyo a la informatica que se junten y que ayuden a esas pesrsonas, no permanescamos pasivos. Hagamos algo, por lo menos mdifundamos esto al mundo y que todos lo sepan. AYUDEMOSLO
JUnto a esto no hay que olvidarse que si se lograra esto exigir una gran capacitacion de todas las personas involucradas en esto

formerEURORDISstaff
moderator

Hi Carlos,

Thanks for posting here. What kind of computer program to help feed people to you envision? How would it work?

What problems did your daughter have eating and how did you manage?

Are you doing any awareness raising activities in your area?

Best,
Rob

Hola, lo que menos quiero es sensibilizar a nadie, me parece que eso seria una actitud poco razonable. Con respecto como lo haria esa respuesta te lo tiene que dar los que estan involucrados con la ciencia, ¿no podemos pensar que eso sea posible?. Lo unico que falta es interrelacionar a los cientificos con la actual tecnologia que es bastante. Lo que pasa es que no nos podemos quedar con el conformismo de solo dejar a un pequeñismo grupo de personas que se ocupen de esta enfermedad. Al menos yo pienso que si es posible, crear algun objeto que pueda servirle a estos pacientes para que su cabeza no se lastime o no pensas asi?. No podriamos acaso pensar que trabajando con los millones de medicos del mundo y de millones de personas muy inteligentes en el area de informatica podrian por lo menos intentar buscar alguna forma de poder alimentarse estas personas. Si tu respuesta es no me daria mucha pena pero yo creo que si, lo que pasa es que estas personas en el contexto, no existen y no son utilidad economica a las grandes corporaciones.

louise_d
moderator

Hi
First of all, it is fantastic to be able to communicate like this on the forum – thanks Rob and everyone at RareConnect working so hard for this and other communities.

Carlos, we are all united in our wish to see improvements in the lives of NA sufferers, and your ardent appeal for software developments opens up a whole new area which deserves consideration. I agree that research is powered by money, of necessity but also sometimes possibly greed. That said, of course a drugs company will only develop something it has a chance of making a profit on, which is legitimate though sad for minorities, which is why there are special incentives for the development of orphan drugs which may be of use in treating rare diseases (see NA News 16).

Not being a software expert I have no idea of whether your suggestion is feasible. Does anyone here in the NA group know someone with enough understanding of the subject to judge the technological likelihood? If there were realistic expectations, would it perhaps interest a bright postgraduate computer student looking for a topic of research? How could one find such a student and would a computer firm be interested in supporting him/her, or does anyone have other ideas of how to fundraise scholarship money for such a project? So many questions!

Thank you for the initiative to inspire the community with new vigor. We all share your concern. Most of the Advocacy's expenditure is to support scientists research projects to understand what causes the death of brain cells in a specific part of the brain. This research has been going on since 2005. These projects are paid for by donations of patients and their friends. This has grown thanks to support from governments in Europe and the USA. In the next NANews I hope to publish a summary of our research over the years.

Money to pay for salaries and equipment is one thing limiting the ability to expand research.
In December we will launch an other campaign for donations to support research. Contributions from patient families and friends is an important support for this work.

In October we will ask researchers around the world to submit proposals to continue the work.

formerEURORDISstaff
moderator

Hi Glenn,

How will you be raising funds?

Have you thought about crowd funding?

Look at this project for the rare disease Alkaptonuria, based in the UK:
http://www.indiegogo.com/projects/cure-bla...

hi all my brother Robbie passed away a year ago from na he did a lot for research we live in Australia and they did a study on him he had mri and other tests which the results have been published eating was very difficult for him but he learned to eat from a bowl on the floor and he manuvered the food down as he had many mant tics and found it inpossible to eat sitting up and from the floor he seemed to be able to get more food down when Robbie went with the angles everyone at his funeral donated to research and I myself every year donate money to research with st vincents hospital Melbourne Australia. I would love to have contact with ppl and familys and cares of na u can contact me on rainej@dcsi.net.au or on facebook raine Petersen I cared for Robbie for many years and learned a lot and may be able to help with just a ear or little things we learned with Robbie he had parkinisom .tics tourrettes and difficulty eating falling over short term memory loss so please feel free to contact regards raine Petersen

gingerirvine
moderator

Hi Raine

Thank you for joining the network; you have been amazing with your work with Robbie and supporting the cause; I know the hospital appreciates all you do. This is a good place to share your knowledge and hear about other patients' experiences. I took our daughter Alex to the swimming pool this morning- we had a great time as few people were there and we had the spa to ourselves! Take care and keep adding to the wealth of knowledge about NA!

That's wonderful alex loves the pool also ginger Robbie loved swimming he said it was the only time he felt free from tremors seem tics

HELLO. I am very sorry about your daughter...I can relate...here is my story:

. My name is Mike and I was recently diagnosed with NA. My symptoms started 3 years ago ( fidgeting, problems walking, speaking, and swallowing). It has been very difficult for me and my family to come to terms with this news as I was for lack of a better word, a normal guy. I am now off work and living on disability. My friends and family have been very supportive and I take each day as it comes.

My swallowing problems are extremely embarrassing as I cant eat without food spilling out of my mouth. I find it difficult to socialize and date.

Are there others similar to me?? Hope to hear from you soon.

Mike