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30/06/2015

Text DIDAC to 28014 to collaborate with the research on primary immunodeficiency diseases

Didac_paper960

30/06/2015

Didac is a 4 year-old boy suffering from a rare disease affecting his immune system

"http://www.totsambdidac.com/" 'Tots amb Didac' ("We are all with Didac" in English) is a campaign started by Didac's parents. Didac is a 4 year-old boy suffering from a primary immunodeficiency disease (PIDD), also called rare diseases, caused by an impaired immune system. In the framework of the campaign, by texting DIDAC to 28014 you can help to continue researching to find solutions to similar diseases affecting Didac, the same that suffered his brother, who died when he was only 3 years old.The aim is double: his parents want to raise public awareness and funds to research on this group of diseases just as they have been doing for the past two years. Through research on PIDDs and thanks to all the donations from the anonymous people, the mutation causing Didac's gene defect has been found, as a matter of fact, he has recently undergone a successful bone marrow transplantation.PIDDs affect the immune system due to a gene defect that would predispose affected patients to a larger number of infections and more severe ones than normally and to various complications including lymphomas and leukaemias, and even to a fatal outcome. Iván, Didac's father, explains: "these diseases are not rare because they are difficult to cure, but because enough research has not been directed". This is the reason why they are struggling to raise funds, so the SMS text system can help to do research with a higher budget. "http://www.vhir.org/larecerca/grupsrecerca/ca_grups_objectius.asp?area=6&grup=6&mh1=2&mh2=1&mh3=1&mv1=2&mv2=1&menu=1&Idioma=en" The Infection in Immunocompromised Pediatric Patients group, where Dr. Pere Soler (the doctor in charge of Didac's case) is a member, and the "http://www.vhir.org/larecerca/grupsrecerca/ca_grups_equip.asp?area=7&grup=3&mh1=2&mh2=1&mh3=1&mv1=2&mv2=1&menu=3&Idioma=en" Immnunology group at Vall d'Hebron Institute of Research (VHIR) are studying PIDDs. Both groups have direct link to VHIR's Pediatric Infectious Diseases Unit, which has nearly 700 diagnosed patients and it is considered a unique and leading centre in this field.All the funds raised through the solidary SMS and donations will be earmarked for the research on primary immunodeficiencies at VHIR. These funds will be specifically invested in collection and preservation of blood samples taken at the hospital through the Immunology Bank of the HUVH Biobank.Why is it so important to collect and preserve the samples?- Because PIDDs are often inherited disorders caused by a gene defect passed down from parent to child. Couples ask for genetic counseling to know whether their children will be suffering from this group of diseases. Parent-child sample analysis may allow to advise future pregnancies. - Because scientific research progresses and new gene defects that may be responsible for PIDDs are discovered. Correct preservation of available samples allows a revision of the case and the possibility to reach a definitive diagnosis offering a new opportunity for treatment.- Because even when a patient is diagnosed with PIDD, the gene defect present in the immnune system may be still unkown, so it is essential to have samples available in order to study this defect. The Biobank prepares and stores these patient's samples so they can be available if a re-analysis is required. - Because PIDD may cause death to an affected patient. If a sample from this patient is available, it is possible to study the reasons why these gene defects have led to a fatal outcome.- Because having PIDDs samples in a Biobank ensures that the samples are correctly available in case they are needed and encourages collaborative research together with other research centres, nationally and internationaly. Some of the PIDDs are so rare that is neccesary to study patients from different parts of the world. Collaboration is crucial for helping to study and diagnose rare diseases. Ways to collaborate:Via SMS: Text DIDAC to 28014 (full euros1.20 amount donated)Via web form: "http://www.yoinvestigo.org/colabora-vhir-donacio.php?id=101" http://www.yoinvestigo.org/colabora-vhir-donacio.php?id=101If you would like to make a bank transfer, please, contact the Patronage unit at VHIR. * Full euros1.20 amount donated to VHIR Foundation. Mobile companies collaborating: Movistar, Vodafone, Orange, Yoigo and Euskaltel. Solidary SMS service operated by Altiria TIC and Asociación Española de Fundraising, customer service telephone number 902 00 28 98. P.O Box 36059 - 28080 Madrid.

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