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• 
  ramuro | Conferences | published 7 days ago | Originally written in Spanish Evaluation of the annual meeting of AESHA 2012

  As you know, the last May 5, 2012 we had the AESHA Annual Family Meeting.

  The organization is very satisfied with the way in which the meeting took place as we reached the objectives that we had proposed for ourselves. We commented the activities carried out by the association during the last year and the advances in the field of investigation.

  Also, the was a medical session where the patients that wanted to be part of the IBAHC-Clinical Registry and Biobank were visited.That, together with the biological samples that we will send briefly, allows our patients to be selected for the investigation that is carried out using IBAHC.

  We believe this is a great step that would not have been possible without the joint help of AISEA, AESHA, the medical doctors of AESHA and AISEA and the affected families.

  We sincerely thank the attendance of the families, as we the difficulty that this brings in our conditions.

  A warm thanks also to the people that helped us carry out the meeting: Mr. Filippo Franchini, Dr. Melania Giannotta, Dr. Jaume Campistol, Dr. Carme Fons, Mr. Marc Simón y Ms. Ana Bosque.

  Albert Vilamala

  Secretary of AESHA

  Spanish Association of Alternating Hemiplegia Syndrome

  albert.vilamala@aesha.org

  www.aesha.org

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

  One reply to the topic — see all replies

  • 
    marcus published 7 days ago | Originally written in German

    Hello,

    I think it´s good that forces are united and collaboration has begun. Soon there will be new tasks for Science. A prerequisite for further research are of course clinical registries and bio banks with data and samples from possibly many patients.
    I think, the step your members made was right. Maybe other patients from other countries will follow your example, especially those, where AHC-registries and/or collections of genetic material are not yet available. From this, certainly our children would benefit.

    Marcus
    05.11.2012

    Notice: This text content has been translated automatically by a third-party service.
• 
  marcus | published 13 days ago | Originally written in German Sensation? Very good news? Announcement from the Board of the AHC Foundation

  Dear all,

  I have excellent news.

  Today, the board of the AHC Foundation published an update on the AHCF Pepsi Grant Research, both on its own website and in the forum of the French organization afha (Yahoo Groups).

  According to the announcement, the genetic cause of AHC was discovered.

  Details will be announced during the family meeting and scientific conference in San Francisco in late June. Please refer to ahckids.org/foundation-updates/ahcf-pepsi-...
  or health.groups.yahoo.com/group/afha/message... for more information.

  I hope that members of our community will also provide respective information here, on RareConnect, soon.

  Best regards

  marcus
  May 4, 2012

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

  2 replies to the topic — see all replies

  • 
    rmueller published 7 days ago | Originally written in German

    Hello...
    In this form the article is a very vage expression concerning a result which has not been explained and the existence of which is neither confirmed nor denied.

    It will take some more time until results can be published and what it will be nobody knows yet. That means, everything is just speculation which may eventually rise hopes which do not have any foundation. This is the reason why we should be very careful as concerns the publication of a statement!

    Best regards
    Ralf

    Notice: This text content has been translated automatically by a third-party service.
  • 
    marcus published 7 days ago | Originally written in German

    Hello,

    I thought that all presidents and chairmen of the patient organisations were aware of the results. Apparently I was wrong. These results have been in the piblic sphere for several days, and those interested in them are fully aware of what they are. Due to the unambiguous statements od AHCF, A.I.S.EA and AFHA they have not been presented here yet.

    Best regards,

    Marcus
    11/05/2012

    Notice: This text content has been translated automatically by a third-party service.
• 
  ramuro | Research, Conferences | published 22 days ago | Originally written in Spanish MEETING OF SPANISH FAMILIES ON MAY 5 IN BARCELONA

  The annual meeting of AESHA families will be celebrated on May 5 at Hospital San Joan de Déu de Barcelona (Spain).

  The way the meeting was decided last year, we have been informing through our Web page, this year we are going to start our participation in the IBAHC research (project (Biobanco and Italian Register for Alternating Hemiplegy).

  It is of vital importance for all AHC families in Spain to supply their information so as to have a database that is ample enough to start new research projects.

  Specifically, this database is made up of 3 types of data, on which we must supply information:
  1. Clinical documentation: It would be of vital importance for every family to collect all the clinical information of the patient (information from all the tests done and all the visits to the neurologist and the neuropsychologist), and to bring those copies to the meeting.
  2. Biological data: There are DNA samples of all our partners at the Biobanco de Sant Joan de Déu. Doctors at that hospital agree on giving a copy of DNA to the patients that so desire it, and say so in a note, to Biobanco IBAHC.
  3. Multimedia data: During the encounter at Barcelona the non-paroxystic characteristics of the patients will be recorded on video. However, it would be a a good idea if people brought to the meeting videos recording at home or at school, where their hemiplegic and or epileptic seizures were clearly seen.

  All this information will be collected by Dr. Melania Gianotta, during the meeting, who will be in charge of sending it to the IBAHC.

  I would like to insist on the importance that we all collaborate with the Italian project. We all expect that this project will be the door to research into finding the possible gene that causes AHC

  Kind regards to you all,

  Sra. Rafi Muñoz Rochel
  Presidenta de AESHA
  Asociación Española del Sindrome de la Hemiplejia
  Alternante
  rafi.munoz@aesha.org
  www.aesha.org

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

  4 replies to the topic — see all replies

  • 
    ramuro published 14 days ago | Originally written in Spanish

    Muchas gacias Marcus

    Un cordial saludo desde España
  • 
    ahc-pl published 14 days ago | Originally written in English

    May 4th 2012

    Hello AESHA friends,

    we wish you a good meeting tomorrow.
    Have a nice time in Barcelona!
    We hope it will be able to read your report – particularly related to your collaboration
    with I.B. AHC soon.

    Many greetings to you all
    from Polish families
    ahc-pl
  • 
    AHCKIDS published 13 days ago | Originally written in English

    Dear Friends,

    On behalf of the AHC Foundation, I hope your meeting is a huge success. We look forward to hearing the results, and to the continued collaboration we need to cure AHC.

    My Best,

    Jeff Wuchich
    President, AHC Foundation
    jeff@ahckids.org
• 
  ahc-pl | Research, General Information | published 17 days ago | Originally written in English AHC registry and AHC biobank

  Dear all,

  in Poland there is no AHC registry and no AHC biobank.
  May be some of our families would be interested to participate to a registry and a biobank such the I.B. AHC.

  Could anybody explain us the following questions:
  - how high are the costs of enrolment in a registry and a biobank per one patient?
  - what are the follow-up costs?
  - who must pay everything – the patients (the families) themselves or the national AHC association or the national health care system?
  - how does it work in Spain, in Italy and another countries?

  We don’t have any experience in such matters and hope to get an explanation.

  Thank you very much in advance and

  kind regards

  ahc-pl
  30th April 2012
• 
  marcus | Research | published about 1 month ago | Originally written in German Italian study of paroxysmal episodes in AHC - data collection extended

  Hello, dear parents and carer of AHC patients,

  as the Italian organization A.I.S.EA has announced, the duration of the data collection for above mentioned study has been extended ("Alternating Hemiplegia of Childhood: a study on paroxysmal episodes“). Registering is only possible until to June 6th 2012, the data relative to the progress of the disease can be submitted until to September 9th 2012.

  The updated description of the study with the new timetable can be found here:
  bit.ly/I8Up3y
  (if you eventually experience difficulties with opening the pdf file, please press button F5).

  Those who have not participated yet, can still think about it. We often complain, that there is not done enough research regarding AHC, that nobody is interested in this disease.

  There is a some research work to be done here, to which we can contribute a little bit. It really doesn´t take much effort - just a few minutes daily to enter data regarding the episodes (can be also done only every 2-3 days). Eventually the information can also be entered into printed forms.

  It should be obvious to all of us, that the number of patients who can deliver their data, is very restricted (only a couple of hundreds worldwide). And research without a sufficient amount of data is not necessarily representative and the results can´t be secure or statistically relevant, but will mean a very, very high financial expense and organisational effort.

  Some of the AHC patient´s parents took upon themselves all of the work, and we are very grateful for that. We just need to provide the "material to be researched" - our information about the progress of the disease.

  The official languages of the study have been expanded - now everything works in Italian, English, French and in the next days the Spanish version shall be released as well.

  Proceed as follows to open the registration form and to get access to the study:

  open the website of the IB AHC www.ibahc.org and then click a button on the left side
  It.: Altre informazioni – Login/registrazione
  Engl.: More information – Login/Registration
  Fr.: D’autres informations – Accès/Inscription
  Everything else results when entering requested details. After registration and receipt of the login data, login and data input become very easy.

  Me and my family are part of it from the start. Who will register next? Don´t lose any time. This study needs our data!

  marcus

  04/12/2012

  Notice: This text content has been translated automatically by a third-party service.
• 
  marcus | Research, Conferences | published about 1 month ago | Originally written in German Scientific conference in San Francisco regarding the topic AHC on June 28th-29th 2012

  Hi everyone,

  on June 28th and 29th 2012 the American Organization ahcf (AHC Foundation) organizes a scientific meeting ( directly before the family reunion) for physicians and other professionals, dealing with AHC.
  For details please go to the ahcf website

  ahckids.org/foundation-updates/cme-meeting...

  or read tis pdf-file

  ahckids.org/wp-content/uploads/2012/02/CME...

  Please spread this information among doctors and medical professionals (treating your children or interested in AC).

  Regards,

  marcus
  04/12/2012

  Notice: This text content has been translated automatically by a third-party service.
• 
  gosia21 | General Information | published 3 months ago | Originally written in German Sunna is getting 6 years old

  Hi Sunna,

  You're a big girl. For your sixth birthday I wish you all the best - especially health, luck and only sunny days. Learn to make the best out of your life as quickly as possible. At the beginning it was so difficult for me. I feel better now that I've learned that.

  gosia21

  02/09/2012

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

  8 replies to the topic — see all replies

  • 
    ChrissiP published 3 months ago | Originally written in German

    02/09/2012

    Dear Sunna,

    We also wish you all the best. Above all, health. Other things are provided by your parents.
    Have a beautiful birthday!

    ChrissiP

    Notice: This text content has been translated automatically by a third-party service.
  • 
    raquelr-pg published about 1 month ago | Originally written in Spanish

    Hello Sunna:
    Happy birthday from Spain and sorry for the late greeting, in the next few days, more exactly on March 24th Irene will turn 6 years old too, she also suffers from HAI, but lately the number of crisis has decreased considerably. I wish you the best for 2012. I really wish this year goes without crisis.
    A huge kiss, georgeus!!!
    Raquel (Irene's Mother)

    Notice: This text content has been translated automatically by a third-party service.
  • 
    Siggi published about 1 month ago | Originally written in English

    Sunna sends her best regards to all of you, she has had a bad few months but has been better these last 3 days. Hopefully summertime will be better for her.
    Siggi Johannesson (Sunna´s dad)