{"id":3217,"date":"2018-11-07T00:23:32","date_gmt":"2018-11-07T00:23:32","guid":{"rendered":"https:\/\/redondocristina.com\/la-ausencia-de-investigacion-en-enfermedades-raras\/"},"modified":"2018-11-16T13:11:32","modified_gmt":"2018-11-16T13:11:32","slug":"malalties-rares-i-investigacio","status":"publish","type":"post","link":"https:\/\/redondocristina.com\/ca\/malalties-rares-i-investigacio\/","title":{"rendered":"Malalties rares i investigaci\u00f3"},"content":{"rendered":"

[vc_row][vc_column][vc_column_text]Quan un pacient va al metge espera trobar un tractament per a la seva malaltia, amb l’intenci\u00f3 d’obtenir un cura o, d’alguna manera, aconseguir una soluci\u00f3 en un determinat per\u00edode de temps, evidentment, segons la gravetat de cada cas.<\/p>\n

La situaci\u00f3 canvia molt quan ens diuen que no podrem v\u00e8ncer la malaltia o no podrem pal\u00b7liar els efectes negatius de la malaltia en el pacient, perqu\u00e8 encara no s’han aconseguit els aven\u00e7os pertinents per la manca d’investigaci\u00f3 als laboratoris.<\/p>\n

En aquest cas, ens trobem davant de malalties que \u00e9s possible que tot i ser majorit\u00e0ries encara no s\u2019han obtingut remeis efica\u00e7os per possibles dificultats biol\u00f2giques de la investigaci\u00f3. Per\u00f2, tamb\u00e9 existeix la temuda possibilitat que, en lloc de trobar-nos davant d’una malaltia majorit\u00e0ria, ens trobem davant d’una malaltia rara a la qual ni tan sols es destinen pressupostos per a la recerca m\u00e8dica per la baixa quantitat de pacients existents.<\/p>\n

Actualment, i segons dades publicades per la Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras<\/a>, es creu que existeixen entre 5.000 i 7.000 malalties diferents, que afecten als pacients en les seves capacitats f\u00edsiques, habilitats mentals i en les seves qualitats sensorials i de comportament. S’estima que entre el 6% i el 8% de la poblaci\u00f3 mundial, m\u00e9s o menys, estaria afectada per aquestes malalties, \u00e9s a dir, m\u00e9s de 3 milions d’espanyols, 30 milions d’europeus, 25 milions d’americans i 42 milions a Iberoam\u00e8rica.<\/p>\n

Parlem de dades i m\u00e9s dades, xifres i xifres, per\u00f2 estaria b\u00e9 pensar que darrere d\u2019aquestes xifres hi ha persones reals que pateixen uns s\u00edmptomes reals que s\u2019atribueixen a les malalties rares. Per exemple, l\u2019Aina \u00e9s una nena de Terrassa, que sofreix una malaltia rara anomenada Pheland-McDermid.<\/a><\/p>\n

El S\u00edndrome de Phelan-McDermid, o delecci\u00f3 del cromosoma 22q13, \u00e9s una condici\u00f3 gen\u00e8tica que es causa en la majoria dels casos per la p\u00e8rdua de material gen\u00e8tic de l’extrem terminal del cromosoma 22. Aquesta disminuci\u00f3 es produeix durant la divisi\u00f3 cel\u00b7lular, quan els cromosomes s\u2019alineen i es repliquen, alguns d’ells es trenquen i es perden. La caracter\u00edstica comuna de tots els afectats \u00e9s l’abs\u00e8ncia o mutaci\u00f3 del gen SHANK3 (les frases que componen un cap\u00edtol). Aquesta mutaci\u00f3 general apareix de forma espont\u00e0nia, \u00e9s a dir, no \u00e9s heretada. L’abs\u00e8ncia d’aquest gen suposa que els afectats sofreixen un retard en el desenvolupament en m\u00faltiples \u00e0rees, especialment en la capacitat de parlar.<\/p>\n

El Pheland-McDermid, com la majoria de les malalties estranyes, \u00e9s de car\u00e0cter cr\u00f2nic i degeneratiu. La majoria de les malalties estranyes en el 65% dels casos s\u00f3n greus i invalidants. Els pares de l’Aina saben que la seva filla no es pot valer per si mateixa, perqu\u00e8 els pacients de malalties rares presenten discapacitat en l’autonomia (1 de cada 3 casos) i presenten un motor de desenvolupament deficient, sensorial o intel\u00b7lectual, l\u2019Aina pateix problemes de llenguatge i cognitius; les malalties rares solen tenir un comen\u00e7ament preco\u00e7 en la vida (2 de cada 3 apareixen abans dels dos anys), l\u2019Aina va tenir moltes dificultats m\u00e8diques fins que es va identificar que podria estar patint una malaltia rara; els pacients de les malalties rares solen sofrir dolors cr\u00f2nics (1 de cada 5 malalts); i per \u00faltim, per\u00f2 no per aix\u00f2 menys greu, l’esperan\u00e7a de vida disminueix en les malalties rares, ja que es pot atribuir 35% de les morts abans d’un any, del 10% entre 1 i 5 anys i el 12% entre els 5 i 15 anys.<\/p>\n

En el cas de la Pheland-McDermid, com en moltes altres malalties rares, no es destinen pressupostos p\u00fablics suficients com per aconseguir assolir aven\u00e7os t\u00e8cnics que ajudin a pal\u00b7liar la malaltia. \u00c9s per aix\u00f2 que totes les ajudes provenen b\u00e9 de familiars propers als pacients, donacions an\u00f2nimes o simplement d’esfor\u00e7os de persones sensibilitzades amb el tema.<\/p>\n

L’Aina anir\u00e0 dem\u00e0 al col \u00b7 legi, feli\u00e7, somrient com nom\u00e9s ella sap somriure. Com cada dia fa. Per\u00f2 la seva malaltia seguir\u00e0 avan\u00e7ant r\u00e0pidament mentre que no existeixi un medicament que l\u2019aturi. Mentre no es pugui investigar al respecte, perqu\u00e8 les dades estipulen que la seva malaltia no es considera rellevant en ser una malaltia rara. Tots esperem trobar un tractament per a la nostra malaltia quan anem al metge, l\u2019Aina tamb\u00e9 hauria de disposar d’un tractament que freni el progr\u00e9s de la seva malaltia. L\u2019Aina tamb\u00e9 hauria de seguir sent feli\u00e7.<\/p>\n

 <\/p>\n

 <\/p>\n

* Article publicat a la columna d\u2019opini\u00f3 de Cristina Redondo: Il dolce far niente<\/em>, secci\u00f3 Tribuna del Diari de Sant Quirze<\/em> el 07\/11\/2018<\/a>[\/vc_column_text][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_column_text]Quan un pacient va al metge espera trobar un tractament per a la seva malaltia, amb l’intenci\u00f3 d’obtenir un cura o, d’alguna manera, aconseguir una soluci\u00f3 en un determinat per\u00edode de temps, evidentment, segons la gravetat de cada cas. La situaci\u00f3 canvia molt quan ens diuen que no podrem v\u00e8ncer la malaltia o no podrem […]<\/p>\n","protected":false},"author":2,"featured_media":3214,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[85],"tags":[],"class_list":["post-3217","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-il-dolce-far-niente-ca"],"yoast_head":"\nMalalties rares i investigaci\u00f3 Cristina Redondo<\/title>\n<meta name=\"description\" content=\"En el cas de la Pheland-McDermid, com en moltes altres malalties rares, no es destinen pressupostos p\u00fablics suficients com per aconseguir assolir aven\u00e7os t\u00e8cnics que ajudin a pal\u00b7liar la malaltia.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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