Usuku lwezifo olungavamile: lapho ukuhlupheka kungazwakali

Iqiniso lokuza emhlabeni ngesifo esingajwayelekile liyahlanganiswa, ezimweni eziningi, ngokushiywa kwezenhlalo, ezokwelapha kanye nezikhungo. Ukuzalwa une isikhumba sevemvane, I-Morquio noma i-Moebius Syndrome, okokuqala nje sisho isidingo sokunakekelwa kwezempilo nokwelashwa okungahlali kuhlangabezana nazo zonke izidingo zengane noma zabantu abadala.

Esinye isici okufanele usibhekelele umthelela ongokomzwelo onawo kubazali, njengokuthi ubhekane neqiniso lengane, okumele ilwele impilo ngendlela ebucayi, ebuhlungu kakhulu, lapho yonke imizamo kufanele ibe miningi nalapho umndeni , ngobusuku obubodwa kufanele abe nguchwepheshe wesifo, ngeshwa, futhi naphezu kokwazi ukuthi ukuvela kwaso kungaba yini, akukho khambi. En Madres Hoy queremos invitarte a que reflexiones con nosotros sobre este problema: isidingo sokunikeza izwi eliningi kubantu, ezinganeni ezinezifo ezingavamile.

Izifo ezingandile: ukuba ameva olwandle lwamanzi

Sibheka isifo esingajwayelekile lapho ingane iza emhlabeni inesifo, ukuphazamiseka noma isifo, okuhlupheka umuntu oyedwa kwabangu-1 2.000. Kunjengokungathi, ameva amancane olwandle oluzolile lwamanzi. Ziba ngamaqiniso athile aphoqa abazali nodokotela babo ukuthi bafune izinkomba, imininingwane kanye nokwesekwa ukuze banikeze ukunakekelwa okungcono kakhulu kuleyo ngane, ngaphezu kwakho konke, efanele impilo enhle.

Ukuze wazi kancane ngezifo ezingavamile, kuyadingeka ukuthi ucabangele lolu lwazi.

• Yize ekuboneni kuqala kubonakala kuhlukile kakhulu ukuzwa ngezifo ezinjenge-Ondine Syndrome, kufanele sikukhumbule lokho EYurophu kuphela, abantu abangaphezu kwezigidi ezingama-30 bahlushwa uhlobo oluthile lwezifo ezingavamile.
• Ngokwe-World Health Organisation (WHO), abantu ababalelwa ezigidini ezingama-500 emhlabeni baphethwe uhlobo oluthile lwesifo esingajwayelekile kanti abanye abaningi bangaba naso bengazi.
• Ukugula, ubuhlungu, ukuhlala wedwa, ukwesaba nokungaqiniseki akubonakali kuyingane kuphela. Imindeni nayo iyisandiso salezi ziguli, ngalo, umthelela mkhulu kakhulu.
• Izifo ezingandile azivamisile ukuveza uhlobo olulodwa lwe-symptomatology, okuvame kakhulu ukuthi kuhlanganisa ukugula okuningi, ukuguqulwa nezinkinga, ukuze ukunakekelwa kwemikhakha eyahlukene kuyadingekar: odokotela, ama-physiotherapists, othisha, izazi zokusebenza kwengqondo, abelaphi bokukhuluma, izazi zenhliziyo ...

Izifo ezingandile ezinganeni

Uma kusuka esikhaleni sethu sifuna ukuthonya izinkinga zezifo ezingavamile ezinganeni, kungenxa yokuba sengozini kwazo okukhulu, futhi ngoba Ezimweni eziningi, uma bengakutholi ukunakekelwa okwenele, imishanguzo kanye nokwesekwa emphakathini ezikhungweni, ingxenye yalezi zingane ayifinyeleli ebudaleni.

• Iningi lezifo ezingavamile izifo nokuwohloka. Izimpilo zezingane ziya ngokuya ziba zimbi, nezinhlungu, ukuhlala wedwa kanye nokuhlupheka okukhulu kwemizwa njengoba bebona ukuthi izingane zabo zingakwazi kanjani ukuba nezinga lempilo ezinye izingane ezilingana nazo.
• Ezimweni eziningi, lezi zingane eziphethwe yizifo ezingandile zigcina zikhubazeke kakhulu lapho belahlekelwa ngokuphelele ukuzimela kwabo.
• Azikho izindlela eziphumelelayo zokwelapha lezi zifo. Isikhathi esiningi, imishanguzo ekhona ibambezela inqubo kodwa ayiyelaphi.
• Kunezifo ezingavamile eziphakathi kuka-6000 no-8000.
• Kunezimo zezingane ezingakwazi ngisho nokuthola ukuxilongwa ngoba izimbangela zenkinga yazo azaziwa ngokuphelele.
• Izifo ezingama-75% zezifo ezingavamile zithinta izingane.
• Izingane ezingama-30% ezinezifo ezingavamile zifa zingakabi neminyaka engu-5 ubudala.
• Izifo ezingama-80% zezifo ezingavamile zinemvelaphi yofuzo
• Ezinye izifo ezingavamile ziwumphumela wezifo nokungezwani komzimba okwenzeka ezimweni eziningi, phakathi neminyaka yokuqala emihlanu yokuphila.

Izifo ezivame kakhulu ezingavamile ezinganeni

• I-Fanconi anemia: Imvamisa kutholakala ukuthi iphakathi kweminyaka emi-3 nengu-7 futhi ibonakala ngesifo esingenalo igazi esibi kakhulu esidala ukuthi ingane ibe nezinkinga ezinkulu zokukhula: ubude obufushane, isisindo sokuzalwa esiphansi, ukungasebenzi kahle, ikhanda elincane namehlo, ukungezwa kahle ...
• I-Amyotrophic Lateral Sclerosis: yisifo se-neuromuscular degenerative esihlanganisa ukuhlupheka okukhulu futhi, ngeshwa, ukwehla okuqhubekayo ngokufa okungenakugwemeka. Kukhona ukukhubazeka, futhi ama-motor neurons aphelelwa umsebenzi futhi abe necrotic.
• Isifo seHuntington: esinye isifo esinezakhi zofuzo ezicacile okungekho khambi kuso yize sekuneminyaka sibonakala. Kwakha izinkinga zokuhamba, ukulinganiselwa kwengqondo kanye nezinkinga zengqondo nezinkinga zemoto.
• I-Ulcerative Colitis kanye Nezifo zikaCrohn: Kungabonakala kungathi "kubucayi" uma uthi nhlá, kepha ngesinye sezimo ezibucayi kakhulu, ezibuhlungu nezijwayelekile zomzimba phakathi kwezingane ezitholwe zinezifo ezingavamile.
• I-Ataxia Telangiectasia: Kuyisifo esiteleka kakhulu ngoba izingane zigcina zibukeka zingaphezu nje kweminyaka eyi-8 noma eyi-9 ubudala, abantu abadala impela. Kuyisifo sezakhi zofuzo lapho kuvela khona izinkinga esikhunjeni nasesimisweni sezinzwa esiyinhloko.
• UNiemann-Khetha: esinye isifo esibuhlungu njengoba sibuhlungu. Kubanga ukuqoqwa kwamadiphozithi amaningi ebuchosheni, esibindini noma ebuchosheni. Ingane ayikhuli ngendlela efanele, iba nokuquleka, futhi ayikwazi ukukhuluma.
• I-Bermous epidermolysis: Sijwayele ukusazi ngokuthi «isikhumba sevemvane». Kuyisifo esizalwa naso lapho ukungqubuzana okuncane kakhulu nesikhumba kudala amanxeba namabhamuza. Isikhumba sihlanjululiwe, kuvela izibazi ngisho nokudla okulula, kudala ubuhlungu obukhulu.

Izifo ezingandile: ezinkulu ezikhohliwe izimboni zemithi

Njengoba "iSpanish Federation of Rare Diseases" isichazela ngezimpawu ezithile zengane ngayinye, abazali kumele babhekane nemvelo engasazi lesi sifo, lapho ongoti bengenalo lonke ulwazi nokuthibaphoqelekile ukuthi baphile uhambo olungapheli lwezibhedlela, odokotela kanye nokuhlolwa okungahlali kwenelisa ngendlela umuntu alindele ngayo.

Manje ... konke lokhu kubangelwa yini? Kungani ingekho imishanguzo ephumelelayo okungenani "yokunciphisa intuthuko" njengoba kufinyelelwe ngokwesibonelo ngegciwane le-AIDS?

• Ayikho imali. Izifo ezingandile azizuzisi ngaso sonke isikhathi iBig Pharma. 
• Akunasembozo esisemthethweni sokukhuthaza ucwaningo lofuzo.
• Ucwaningo lwezifo ezingavamile aluvamisile ukutshalwa

Yini engingayenza uma nginezingane noma ilungu lomndeni elinesifo esingajwayelekile?

Into ebaluleke kakhulu lapho sithola izindaba zokuthi ingane yethu inesifo esingajwayelekile, ukuzicabangisisa ngenhloso: mnikeze impilo enhle, umlwele, yenza iqiniso laso libonakale ukukhiqiza lokho kungekudala noma kamuva, kwenziwa umuthi ongasiza indodana yethu noma ezinye izidalwa kusasa.

Zama "ukuhlala njengamanje" nengane yakho ngokuyenza ijabule, uyihlanganise emhlabeni, emphakathini, nezinye izingane, futhi uyenze ibambe iqhaza empilweni ngangokunokwenzeka. Ukumamatheka namuhla kuyisimo esihle sokuzuza, futhi lokhu kuyinto okufanele siyihlakulele nsuku zonke.

Okuthile okubalulekile zisekelwa yizikhungo nezinhlangano lapho uzothola khona ulwazi nezeluleko. Ngakho-ke, ungangabazi ukubheka lawa makheli wezinto ezithinta izifo ezingavamile.

• Intandane ingosi yokubhekisa izilimi eziningi ngezifo ezingandile nemithi ezifweni ezingama-6.000. Inikeza ngezinsizakalo ezahlukahlukene: orpha.net
• I-PubMed inikeza ukufinyelela kumajenali wesayensi yezinto eziphilayo, futhi ixhumanise kumasayithi amaningi anama-athikili amahhala: ncbi.nlm.nih.gov
• NORD, Inhlangano yezifo ezingajwayelekile engenzi nzuzo ezinikele ekusizeni abantu abahlaselwe izifo ezingavamile: hubeho-lbhebhs.org
• Izifo InfoSearch iyithuluzi lokusesha online kanye ne-database yemithombo yezifo zofuzo: genibalukha.org
• Isethenjwa sasekhaya se-Genetics inikeza ulwazi ngezifo ezingaphezu kuka-650 zofuzo: ghr.nlm.nih.gov