Usuku Lomhlaba Lwezifo Ezingavamile kanye nobuntwana: umthelela, izinselele nokusekelwa kwemindeni

Iqiniso lokuzalwa unesifo esingavamile ngokuvamile lihlanganiswa iqiniso lokunganakwa kwezenhlalo, kwezokwelapha, kanye nezikhungo.. Ukuzalwa une isikhumba sevemvaneUkuba ne-syndrome engavamile njenge-Morquio noma i-Moebius kusho, okokuqala nokubaluleke kakhulu, ukudinga ukunakekelwa kwezempilo okuqhubekayo kanye nokunakekelwa kwemithiukunakekelwa okukhethekile nokuhlelekile okungazihlanganisi zonke izidingo zengane noma zomuntu omdala.

Esinye isici okufanele usicabangele yi umthelela womzwelo nezenhlalo Kusho ukuthini ukuthi abazali bathole ukuxilonga (noma baphile bengenakho) futhi babhekane neqiniso lengane okufanele ilwele ukuphila ngendlela enamandla kakhulu, ebuhlungu kakhulu, lapho yonke imizamo kumelwe ibe nezinto eziningi? Umndeni, cishe ubusuku bonke, uba uchwepheshe ophoqelelwe esifweni esiyinkimbinkimbi okuthi, naphezu kokwazi kancane ukuziphendukela kwayo okungase kube khona, ngokuvamile ayinalo ikhambi noma ukwelashwa okuphumelelayo.

Ku-Omama Namuhla sifuna ukukumema ukuthi ucabange nathi ngale nkingaIsidingo sokunikeza izwi elengeziwe, izinsiza ezengeziwe, nokusekelwa okwengeziwe kubantu nezingane ezinezifo ezingavamile, ikakhulukazi ngaphakathi kohlaka lwe Usuku Lomhlaba Lwezifo Ezingavamile, usuku olubalulekile lokugqamisa leli qiniso nokufuna ukulingana kwezempilo.

Usuku Lomhlaba Lwezifo Ezingavamile: kungani lolu suku lwakhethwa

El Usuku Lomhlaba Lwezifo Ezingavamile Kugujwa ngosuku lokugcina lukaFebhuwari, usuku olugcwele izimpawu. UFebhuwari yinyanga enomehluko wokuba mfushane kunezinye, futhi eminyakeni ye-leap ihlanganisa nosuku olwengeziwe. Lesi simo "ehlukile" futhi ayivamile Lokhu kwenza kube uphawu oluphelele lokumela ukutholakala kwalezi zifo.

Ngenxa yalesi sizathu, isikhumbuzo senzeka 28 ngoFebhuwari futhi, eminyakeni ye-leap, the 29 ngoFebhuwariUsuku oluyingqayizivele ekhalendeni. Inhloso ukuhlobanisa ubungqayizivele bosuku nokuhluka kwalabo abaphila nalezi zifo, sikhumbule lokho Akuzona nje izinombolo noma izifokodwa abantu nemindeni enezindaba zempilo, amaphupho kanye nezidingo ezibambekayo.

Kusukela lolu suku lwaqala ukugujwa ngokusungulwa kwe Inhlangano YaseYurophu Yezifo Ezingavamile (EURORDIS)Amazwe andayo, izinhlangano zezempilo, izinhlangano zeziguli, nochwepheshe baye bahlanganyela ndawonye ukuze bahlele imikhankaso, izingqungquthela, imicimbi yokuqwashisa, nemisebenzi yokufundisa. Umgomo wabo ovamile uwukuthi ukuqwashisa, ukhuthaze ukuxilongwa kusenesikhathi futhi uthuthukise i ukufinyelela ekwelashweni kanye nokwesekwa okuphelele.

Ezindaweni eziningi nabo bayakhushulelwa imikhankaso yezokuxhumanaImisebenzi yasezikoleni, izakhiwo ezikhanyisayo ezinemibala emele, nokufundwa kwama-manifesto ezikhungo konke kunomthelela ekuqwashiseni ngeqiniso lezifo ezingavamile. babambe indawo ku-ajenda yomphakathi nepolitikiLokhu kubalulekile ekukhiqizeni izinguquko zangempela ocwaningweni, ekuxhasweni nasekuklanyweni kwesevisi.

Izinhlangano ezifana ne I-Spanish Federation of Rare Diseases (FEDER)I-ALIBER (Ibero-American Alliance for Rare Diseases) kanye namanethiwekhi omhlaba adidiyelwe yi-EURORDIS basebenzela ukuqinisekisa ukuthi lolu suku luhumushela olimini lwesiNgisi. izibopho ezibambekayo ekulinganeni kwezempiloukufakwa komphakathi kanye nokwesekwa kwezingane ezinezifo ezingavamile. Imikhankaso ivamise ukugxila kuyo izithiyo zokuxilonga, ubunzima bokuthola ukwelashwa kanye nomthelela wezenhlalo wezinkulungwane zezifo ezingavamile ezihlonzwe emhlabeni wonke.

Izifo ezingandile: ukuba ameva olwandle lwamanzi

Sibheka isifo esiyivelakancane lapho umuntu ephila nesifo, ukuphazamiseka noma ukugula okuthinta inani elincane kakhulu labantu.EYurophu, isifo sivame ukubhekwa njengeyivelakancane uma sithinta abantu abambalwa kuno-1 kwabangu-2.000, futhi kwezinye izimo, sibhekwa njengengavamile uma sithinta abangaphansi kuka-5 kwabangu-10.000. Ngomqondo ongokomfanekiso, angameva amancane olwandle olubonakala luzolile.

Nakuba isifo ngasinye sithinta abantu abambalwa, ndawonye bamele a inselele enkulu yezempilo yomphakathiESpain kulinganiselwa ukuthi Izigidi zabantu ziphila nesifo esingavamile.Kulinganiselwa ukuthi kungaphezu [kwenombolo elahlekile] emhlabeni wonke. Izigidi ezingu-300Ngokwemithombo ehlukahlukene ekhethekile, lokhu kusho ukuthi, nakuba igama elithi "okungavamile" lingase lisikisele okuthile okuhlukile noma okungajwayelekile, empeleni sikhuluma nge iqembu elikhulu nelihlukahlukene.

Lezi zifo ziba amaqiniso athile kakhulu aphoqa imindeni kanye nethimba lezokunakekelwa kwempilo ukuthi funa izibonelo ezinhle, ulwazi, nokusekelwa okukhethekile ukunikeza ukunakekelwa okungcono kakhulu kuleyo ngane noma umuntu omdala, ofanele ngaphezu kwakho konke, ukujabulela izinga lempilo elihle kanye namalungelo abo ngokulinganayo.

Ukuze siqwashise ngezifo ezingavamile, kuyasiza ukucabangela amaqiniso athile abalulekile asizayo kala umthelela wayo wangempelaezinkulu kakhulu kunalokho okucatshangwa ngezinye izikhathi.

• Nakuba ekuqaleni kungase kubonakale kungavamile ukuzwa ngezifo ezifana I-Ondine's Syndrome noma i-epidermolysis bullosa, iyonke, Izigidi zabantu ziphila nesifo esingavamile emhlabeni
• Ngokwezilinganiso zamazwe ngamazwe, abantu abangaphezu kwezigidi ezingama-300 Bangase bahlaselwe isifo esithile esingavamile emhlabeni, futhi ingxenye enkulu yabo isekhona ngaphandle kokuxilongwa noma ngokuxilonga okungaphelele.
• Ukugula, ubuhlungu, ukuhlukaniswa, ukwesaba, nokungaqiniseki Akuyona nje ingane ethintekile noma umuntu omdala ohlangabezana nalezi zinselele. Imindeni futhi iyisandiso salezi ziguli, okukhulisa kakhulu umthelela wemizwa, wezenhlalo, kanye nezomnotho.
• Izifo ezingavamile ngokuvamile aziveli ngophawu olulodwa noma uhlelo oluthintekile. Bajwayele ukuphelezelwa... izinguquko eziningi kanye nezinkingaNgakho-ke, a ukunakekelwa kwemikhakha eminingi igcinwa ngokuhamba kwesikhathi: odokotela bochwepheshe abahlukene, odokotela bomzimba, othisha, izazi zokusebenza kwengqondo, izazi zezinkulumo, odokotela abasebenza emsebenzini, osonhlalakahle...
• Ubunzima bokuxilonga, ukuhlukahluka kwezimpawu, nokuntuleka kolwazi kusho ukuthi imindeni eminingi iphila isikhathi eside "uhambo lwezempilo" baze bathole ithimba lezithenjwa elisiqondayo isithombe somtholampilo futhi elingabasekela.

Ngaphezu kobukhulu bezokwelapha obuqinile, izifo ezingavamile ziyi-a inselelo yezempilo yomphakathi kanye nezinhlelo zokunakekelwa kwezempilongokwesiko kugxile kuma-pathologies avame kakhulu. Kulesi simo, i- ukuhlela okuqondile kwezempilo, ukuxhumana phakathi kwamazinga okunakekela kanye nokuqoqwa kwe idatha yekhwalithi ye-epidemiologicalUkubhaliswa kwabantu kubalulekile ukuvimbela lezi ziguli ukuthi zingabonakali.

Izikhungo nezinhlangano zezifunda nezikahulumeni ziyathuthuka irejista yezifo ezingavamile Lawa marekhodi asivumela ukuthi siqonde kangcono ukuthi bangaki abantu abathintekayo, yiziphi izidingo zabo, nokuthi singazihlela kanjani izinsiza ezifanele. Angamathuluzi abalulekile klama izinqubomgomo zokulingana kwezempilo futhi uqinisekise ukuthi ukunakekelwa okuphelele, okuqhubekayo, nokuhlelekile kufinyelela ngempela kulabo abakudinga kakhulu.

Izifo ezingandile ezinganeni

Uma ngokubona kwethu sifuna ukugxila ikakhulukazi ezinkingeni zezifo zezingane ezingavamile, kungenxa yazo ubungozi obukhulu Futhi ngenxa yokuthi, ezimweni eziningi, uma bengakutholi ukunakekelwa okufanele, imithi edingekayo, nokusekelwa komphakathi okuvela ezikhungweni, Ezinye zalezi zingane azifiki ebudaleni. noma ikwenza ngokulinganiselwa okukhulu.

• Izifo eziningi ezingavamile ziyizifo okungapheli nokuwohlokayoUkuphila kwalezi zingane kungaba kubi kakhulu, okuphawuleka ngobuhlungu, ukulaliswa esibhedlela njalo, ukuhlukaniswa nomphakathi, nokuhlupheka okungokomzwelo okuphakeme kakhulu emindenini ebona indlela izingane zabo ezingakwazi ngayo ukufinyelela izinga lokuphila elifana nelezinye izingane ezilingana nazo.
• Ezimweni eziningi, lezi zingane zigcina zikhubazeke kakhulu. ezithinta ukuzimela kwemoto, ingqondo noma izinzwa, okusho isidingo esibalulekile sokusekelwa kwemisebenzi eyisisekelo yokuphila kwansuku zonke.
• Ezifweni eziningi ezingavamile, Azikho izindlela zokwelaphaIzindlela zokwelapha ezitholakalayo ngokuyinhloko ziyadambisa noma zisiza ukunciphisa ukuqhubeka kwesifo, ukunciphisa izinkinga, noma ukukhulula ubuhlungu.
• Kulinganiselwa ukuthi zikhona phakathi kwezi-6.000 nezi-8.000 zezifo ezingavamile echazwe, nakuba idatha ihluka ngokuya ngemithombo kanye nezigaba ezisetshenzisiwe, futhi ama-syndromes amasha achazwa njalo ngonyaka.
• Kukhona izingane ezingakutholi ngisho nokuxilongwa okuphathekayo, ngoba kwezinye izimo izimbangela zofuzo noma zemvelo zenkinga yazo azaziwa ngokuphelele, noma inhlanganisela yezimpawu ayikahambisani nanoma iyiphi inhlangano echazwe.
• Cishe u-75% wezifo ezingavamile zithinta izingane ngesikhathi sobuntwana noma sokuthomba, okwenza leli qembu leminyaka libe ngelinye lalabo abathinteka kakhulu.
• Iphesenti elikhulu lezingane ezinezifo ezingavamile ziyafa eminyakeni yokuqala yokuphila, ikakhulukazi kuma-pathologies aqala kakhulu, okugcizelela ukubaluleka ukutholwa kusenesikhathi, ucwaningo kanye nokufinyelela ekunakekelweni kwezingane ezigulisa izifo lapho zidingeka.
• Cishe i-80% yezifo ezingavamile zinemvelaphi yofuzo.Okusho ukuthi, zihlobene nokuguqulwa kofuzo olulodwa noma ngaphezulu noma i-chromosome. Okunye kuhlotshaniswa nezici zemvelo, izifo, ukungezwani komzimba okukhulu, noma ezinye izindlela ezingakaqondwa kahle.
• Eziningi zalezi pathologies ziyazibonakalisa phakathi neminyaka yokuqala yokuphilaLokhu kudinga ukulungiswa okukhethekile kwethimba Lezingane, I-Neonatology kanye Nokunakekelwa Okuyisisekelo ukuze babone izimpawu eziyisixwayiso futhi baqale inqubo yokuxilonga ngokushesha ngangokunokwenzeka.

Umthelela ebuntwaneni awuwona nje ngokomzimba noma wezokwelapha. Lezi zingane zingase zibhekane nazo ukucwasa endaweni yesikoleubunzima bokufakwa ekudlaleni nasekuphumuleni, kanye nomuzwa wokuthi "uhlukile" othinta ukuzethemba kwabo. Ngakho-ke, lokhu okulandelayo kubalulekile: ukwesekwa kwezemfundo, ukuqwashisa kontanga nothisha kanye nokusebenzisana phakathi komndeni nesikole ukuze kujwayelwe isigqi, izinto zokwakha kanye nemisebenzi.

Kulo mongo, ukulingana kwezempilo nemfundo kuba umgomo obalulekile. Ukuqinisekisa ukuthi izingane ezinezifo ezingavamile zingakwazi ukuthuthukisa amakhono abo aphelele Kungakhathaliseki isimo sabo senhlalo, lapho behlala khona, noma inkimbinkimbi yokuxilongwa kwabo, lokhu kuyinhloso ehambisana nezinhlaka ezinkulu zamazwe ngamazwe zamalungelo ezingane kanye nentuthuko yomuntu esimeme.

Izifo ezivame kakhulu ezingavamile ezinganeni

Phakathi kwezifo eziningi ezingavamile, kukhona ezinye ezitholakala kaningi uma kuqhathaniswa. eminyakeni yezingane futhi ezidinga ukuqapha ngokucophelela ngamathimba akhethekile. Eziningi zazo zibucayi, azipheli, futhi zibangela izinga eliphezulu lokukhubazeka, okwenza kudingeke a indlela yokwenza izinto eziningi lokho kuhlanganisa nendawo yomndeni kanye nesikole.

• I-Fanconi anemiaNgokuvamile kutholakala ukuthi uneminyaka ephakathi kwe-3 ne-7 futhi ibonakala nge-a i-anemia enzima kakhulu Lesi simo sidala izinkinga ezinkulu zokukhula, okuhlanganisa ubude obufushane, isisindo sokuzalwa esiphansi, ukukhubazeka kwemilenze, ikhanda elincane namehlo, nokulahlekelwa ukuzwa, phakathi kokunye. Kudinga ukuqapha ngokucophelela ukusebenza komnkantsha futhi, kwezinye izimo, ukufakelwa kabusha. Indlela yokwenza kufanele ihlanganiswe. i-hematology, izakhi zofuzo, ukwesekwa kwengqondo kanye nesiqondiso emndenini mayelana nezingozi zokuzala kanye nezinketho.
• I-Amyotrophic Lateral Sclerosis (ALS) eqala ebuntwaneniNakuba i-ALS yaziwa kakhulu kubantu abadala, akhona amafomu ezingane. Kuyisifo i-neurodegenerative neuromuscular okuhlanganisa ukuhlupheka okukhulu kanye nokwehla okuqhubekayo, nokukhubazeka nokulahlekelwa ukusebenza kwe-motor neuron. Ebuntwaneni, kuhlotshaniswa ne Izidingo eziyinkimbinkimbi zokuphefumula, ukudla okunomsoco, kanye nokusekelwa kwezimotoNgakho-ke, amaqembu okubuyisela izingane kanye nokunakekelwa kwe-palliative abalulekile.
• Isifo sikaHuntingtonKuyi-pathology enengxenye ecacile yofuzo okuthi, naphezu kwentuthuko, alikho ikhambiKubangela ukuphazamiseka kokunyakaza, ukulinganiselwa kwengqondo, izimpawu zengqondo, nezinkinga zezimoto ezingase zivele ebusheni (isifo sika-Huntington sezingane). Kudinga a ukubhekwa kwe-neuropsychological ukuxhumana okuseduze, i-physiotherapy, ukusekelwa kwesikole okushintshile nokusekelwa ngokomzwelo kwawo wonke umndeni.
• I-ulcerative colitis nesifo sikaCrohnNakuba ekuqaleni zingase zingabonakali "zimbi kangako", ziphakathi kwe Izifo ze-autoimmune zamathumbu ezibuhlungu kakhulu futhi eziqeda amandlaLezi zimo ziyingxenye yeqembu lezifo zezingane ezingandile. Zingabandakanya ukwehla kwesisindo, ukukhubazeka ukukhula, ubuhlungu besisu obungapheli, kanye nesidingo semithi yokuzivikela komzimba. Umthelela empilweni yansuku zonke uphezulu kakhulu, ngakho-ke udinga a Ukuqapha ukudla okunomsoco nangokwengqondo ethize, kanye nokuxhumana nesikole.
• I-Ataxia telangiectasiaKuyisifo sofuzo se-neurocutaneous lapho inhlanganisela ye izinkinga zesikhumba kanye nezinkinga zesimiso sezinzwa esimaphakathiLezi zingane zingase zibonise ukuntengantenga kwe-gait, izinkinga zokuxhumanisa, ukuntuleka kokuzivikela komzimba, nokubukeka ngaphambi kwesikhathi ngaphambi kwesikhathi zisencane kakhulu. Uhlelo lokwelapha luhlanganisa ukuvuselelwa okujulileukubhekwa kokutheleleka kanye nokusekelwa ngokomzwelo lapho ubhekene nokulahlekelwa okuqhubekayo kokuzimela.
• Isifo sikaNiemann-PickIsifo se-lysosomal storage esidabukisayo njengoba sibuhlungu. Ibonakala ngokuthi a ukunqwabelana kwamafutha ezithweni ezahlukene ezifana nobuchopho, isibindi, noma ubende. Ingane ayikhuli ngezinga elilindelekile, ingase iphathwe isithuthwane, ubunzima bokudla, nezinkinga zokuxhumana. Ukunakekela kugxile ngcono ukunethezeka, ukudla okuphephile kanye nokunye ukuxhumanangaphezu kokusebenzisa noma yiziphi izindlela zokwelapha ezitholakalayo.
• I-Bermous epidermolysis: ngokuvamile eyaziwa ngokuthi "isikhumba sovemvane"Kuyisifo esiwufuzo lapho ukuthinta kancane kungabangela izilonda namabhamuza. Isikhumba sidabuka kalula, kuvela izibazi, futhi ngezinye izindlela, ngisho nokudla kungaba buhlungu kakhulu ngoba kuthinta nolwelwesi lwamafinyila lwangaphakathi. Imindeni idinga Ukuqeqeshwa okuqondile ekunakekeleni amanxeba, ukuvikela isikhumba, nokulawula ubuhlungukanye nokusekelwa ngokomzwelo ngobunzima bokuphila kwansuku zonke.

Lezi yizibonelo ezimbalwa ezivela eqenjini elibanzi kakhulu lama-pathologies, ezimweni eziningi, abelana ngesici esifanayo: Badinga indlela ebanzi ehlanganisa imithi, ukuvuselela, ukusekelwa kwengqondo, izinsiza zemfundo, nokusekelwa komphakathi.Ukuxilongwa ngakunye kuvula umnyango wenselele ehlukile enganeni, emndenini wayo, nakuchwepheshe, kodwa kukho konke, lokhu okulandelayo kuyisisekelo: ukuxhumana phakathi kwezikhungo ezikhethekile nezinkonzo zendawo ukuvimbela umndeni ukuba uzizwe uwedwa lapho ubhekene nobunzima bohambo.

Umthelela ongokomzwelo, wezenhlalo kanye nezemfundo wezifo ezingavamile

Ukuphila nesifo esingavamile kudlula kakhulu ukulawula izimpawu zomzimba. Kubandakanya ukubhekana ne-a inqubo yemizwa eyinkimbinkimbiLolu wuhambo olunzima kumuntu othintekile kanye nomndeni wakhe. Ngokuvamile kuqala ngokusola komtholampilo, kuhilela ukuhlolwa okuningi, ukuvakashela ochwepheshe abahlukahlukene, futhi ngezinye izikhathi iminyaka yokungaqiniseki ngaphambi kokuba kutholakale ukuxilongwa okuqondile, uma kwenzeka kwenzeka.

Imindeni ingase ibhekane nakho ukwesaba, icala, intukuthelo, ukudabukaUmuzwa wokungabi nabulungisa nokukhathala uvela emthwalweni wokunakekela nokuntuleka kwezimpendulo ezicacile. Ezimweni eziningi, ukunakekelwa kwezempilo kubhekwa njengokuhlukene, futhi abazali banomuzwa wokuthi kufanele babe abaphathi bamacala ukuxhumanisa ama-aphoyintimenti, ukwelashwa, nokusekelwa kwezemfundo.

Ezingeni lenhlalo, izibalo zibonisa ukuthi ingxenye enkulu yalabo abaphila nezifo ezingavamile baye bahlupheka ukucwasa ezindaweni ezifana nobudlelwano bomphakathi, isikole, ukunakekelwa kwezempilo, noma imisebenzi yempilo yansuku zonkeUkungaqondi kahle, imibono ecatshangwayo, noma ukwesaba “okungaziwa” kungaholela ekuhlukaniseni le mindeni uma ingenziwa imizamo yokubhekana nezidingo zayo. ukuqwashisa umphakathi.

Imvelo yemfundo iyinsika ebalulekile. Izingane eziningi ezinezifo ezingavamile zidinga ukulungiswa kwekharikhulamu, ukwesekwa okuthile noma amahora aguquguqukayoOthisha namaqembu abaqondisi bangaba abalingani abakhulu lapho bethola ulwazi olwanele mayelana nesifo, beqonda imithelela yaso, futhi besebenzisana nomndeni kanye nabasebenzi bezempilo.

Ngaphezu kokuzijwayeza kwezemfundo, kubalulekile ukukhuthaza izindawo zesikole ezibandakanya wonke umuntu lapho abafundi abanezifo ezingavamile bengabamba iqhaza emisebenzini, imidlalo, namaphrojekthi ngawo wonke amakhono abo. Imikhankaso yoSuku Lwezifo Ezingavamile Lomhlaba ngokuvamile ihlinzeka izinto zokwakha izikhungo zemfundo, imihlahlandlela yokufundisa kanye neziphakamiso zomsebenzi ezisiza ukuchaza ukuhlukahluka kwezempilo ezinganeni ezincane.

Izifo ezingandile: ezinkulu ezikhohliwe izimboni zemithi

Njengoba izinhlangano eziningi zeziguli zichaza, izimpawu eziyinkimbinkimbi zomntwana ngamunye noma umuntu omdala zihlanganiswa indawo yezempilo nenhlalo evame akasazi lesi sifoAbekho ochwepheshe abanolwazi njalo abatholakalayo, amaqembu ezokwelapha akanalo lonke ulwazi oludingekayo, futhi, ezimweni eziningi, imindeni iphoqeleka ukuba iphile esimweni esinzima. uhambo olungapheli lwezibhedlela, odokotela nokuhlolwa okuyinto engagculisi ngaso sonke isikhathi noma iphetha ngendlela abangathanda ngayo.

Omunye wemibuzo emikhulu ephakamayo uthi: Kungani kunezinhlobo ezimbalwa zokwelapha eziqondile zalawa ma-pathologies? Kungani, naphezu kwentuthuko yesayensi, kuseneziguli eziningi kangaka ezingenazo izindlela zokwelapha eziphumelelayo?

• Ukushoda kwezimali ezaneleIzifo ezingavamile zithinta inani elilinganiselwe labantu, okuholela ezinkampanini ezinkulu zemithi ukuthi zibabheke njengabangenanzuzo ngokombono wezomnotho oqinile. Ukuthuthukiswa okuthiwa izidakamizwa zezintandane (izidakamizwa ezihloselwe ukwelapha izifo ezingavamile kakhulu) ngokuvamile zidinga izikhuthazo ezithile kanye nezinqubomgomo zomphakathi.
• Izithiyo zomthetho nezokuphathaKwezinye izimo, ukuntuleka kokufakwa kwezomthetho okuqinile noma amasu kazwelonke achazwe kahle kuphazamisa ucwaningo ngofuzoizivivinyo zemitholampilo kanye nokugunyazwa okusheshayo kokwelashwa okusha.
• Ukutshalwa kwezimali okuphansi ocwaningweniNakuba i-biotechnology kanye nemithi ye-genomic ithuthuka ngokushesha, kusekhona a ukungalingani phakathi kocwaningo enye ihloselwe izifo ezivame kakhulu kanti enye ihloselwe izifo ezingavamile. Lokhu kubambezela ukuthuthukiswa kwe ukwelapha komuntu siqu nokunemba izinkulungwane zeziguli.
• Izindleko eziphezulu zokwelaphaIzidakamizwa zezintandane zivame ukuba namanani aphezulu kakhulu ngenxa yobulukhuni bokuthuthuka kwazo. Lokhu kungaholela ezinkingeni nge ukufinyelela okulinganayoikakhulukazi uma bengafakiwe kuphothifoliyo yezinsizakalo zikahulumeni noma lapho ukuxhaswa kwabo ngezimali kuncike ezinqumweni eziyinkimbinkimbi nezesikhathi eside zokuphatha.

Noma kunjalo, eminyakeni yamuva kuye kwenziwa intuthuko enkulu: kuye kwasungulwa amasha Izikhungo zokubhekisela kanye namayunithi Ezifweni ezingavamile, ukubamba iqhaza kuye kwandiswa Amanethiwekhi ocwaningo aseYurophu nawamazwe ngamazwe kanye namathuluzi afana amarekhodi abantu abathile ukuqonda kangcono izehlakalo kanye nokusabalala kwalawa ma-pathologies.

Ukukhuthazwa kwezingcweti ezintsha zezempilo, njenge izakhi zofuzo zasemtholampilokanye nokuqashelwa kwe abasebenzi bocwaningo Ngaphakathi kwezinhlelo zokunakekelwa kwempilo, lezi yizinyathelo ezibalulekile zokusondeza ucwaningo ekusebenzeni komtholampilo. Ngenxa yalokhu, kuya ngokuya kuba nokwenzeka ukuhlonza izinguquko ezithileukuqonda kangcono umlando wemvelo wezifo eziningi futhi, kwezinye izimo, ukuphinda usebenzise izidakamizwa ezikhona ukwelapha izifo ezingavamile kakhulu.

Ukuvimbela, okuqondwa ngomqondo obanzi, nakho kunendima ebalulekile. Ngokwencazelo ye-WHO, Ukuvimbela akukhona nje ukugwema ukuqala kwalesi sifo, uma kungenjalo ukumisa ukuqhubeka kwayo kanye nokunciphisa imiphumela yayo uma isisunguliweEmkhakheni wezifo ezingavamile, lokhu kuhilela ukusebenza emazingeni amathathu: ukwenza lula ukuxilongwa kusenesikhathiukunciphisa ukuqhubeka kwesifo ngangokunokwenzeka futhi kunciphise umthelela ngokomzimba, ngokwengqondo nangokwenhlalo.

Amasu okuvimbela nokulingana ahlobene nezinhlaka zomhlaba ezifana Izinjongo Zokuthuthukiswa Okusimemeezikhuthaza izinhlelo zezempilo ezikwazi ukunikeza ukunakekelwa okuphelele, okuqhubekayo, nokuhlelekile kubo bonke abantu, kuhlanganisa nalabo abanezifo ezingavamile. Ngale ndlela, izifo ezingavamile ziyayeka ukuba yinkinga encane futhi zibe inkomba ye ubulungiswa bezenhlalakahle kanye nekhwalithi yezinhlelo zokunakekelwa kwezempilo.

Iqhaza labasebenzi bezempilo kanye nezinhlangano zeziguli

Ochwepheshe bezokunakekelwa kwempilo, ikakhulukazi labo abasebenza ku-Pediatrics kanye ne-Neonatology, bavame ukuba ngabokuqala bona izimpawu eziyisixwayiso ezihlobene nesifo esingavamile esingaba khona. Ngokuvamile, imindeni ikhishwa esibhedlela ngaphandle kokuxilongwa okuqinile, kodwa kakade ngokusola ukuthi kukhona okushaya amanzi. Kulo mongo, umsebenzi wabahlengikazi, odokotela, nabanye ochwepheshe ubalulekile.

Ngaphezu kokubhekana nezidingo zezokwelapha ngokushesha, laba basebenzi kufanele banikele imfundo yezempilo emindeniniukubaqondisa ekunakekelweni okuqondile okuzodingeka ingane yabo ngale kwesimiso sasesibhedlela. Kubalulekile futhi ukuthi ukunakekelwa kusekelwe ezimisweni zokuziphatha ze uthando, ubulungisa, kanye nokuhlonipha amasiko kanye nezindinganiso zomuntu siqu emndenini ngamunye.

Amathimba okunakekelwa kwezempilo anikeza impendulo engcono kakhulu ezifweni ezingandile yilawo asebenza ngendlela yokuthi multidisciplinary futhi edidiyelweUkuhlanganisa amakhono ezokwelapha, izinsizakalo zokuhlunyeleliswa, impilo yengqondo, umsebenzi wezenhlalakahle, nokuxhumana nezinsiza zemfundo nezomphakathi. Le ndlela ebanzi inciphisa ubungozi bokuhlolwa okuyimpinda futhi ithuthukise ukuqhubeka kokunakekelwa futhi igwema ingxenye ebalulekile yokucindezeleka ngokomzwelo emindenini.

Ngakolunye uhlangothi, izinhlangano zeziguli Badlala indima engenakuthathelwa indawo. Okuhlangenwe nakho kwabo kokuphila, okuqoqwe eminyakeni eminingi yokweseka abantu abanezifo ezingavamile, kubenza babe umthombo ulwazi olusebenzayo nolwemizwa zibaluleke kakhulu emindenini emisha. Lezi zinhlangano ngokuvamile zinikeza amaqembu okusekela, ulwazi lwakamuva, izeluleko zomthetho nezenhlalo kanye nemisebenzi yokuqwashisa ezikoleni, ezikhungweni zezempilo nasezindaweni zomphakathi.

Kochwepheshe, ukusebenzisana nezinhlangano zeziguli kuvumela ngcono izinga lokunakekelwaukulindela izidingo ezithile kanye nokuklama izindlela zokudlulisela ezisebenza ngempumelelo. Emindenini, ukuxhumana nabanye abahlangabezane nezimo ezifanayo kunciphisa imizwa yokuhlukaniswa futhi kusiza ukufinyelela ezinsizeni. kuqinisa ithemba.

Yini engingayenza uma nginezingane noma ilungu lomndeni elinesifo esingajwayelekile?

Into ebaluleke kakhulu lapho sithola izindaba zokuthi ingane yethu, umlingani wethu, noma ilungu lomndeni liphethwe isifo esingajwayelekile ukuzama ukubeka injongo ecacile ezingqondweni zethuUkumnikeza ikhwalithi yokuphila engcono kakhulu, ukulwela amalungelo akhe, ukuhamba naye usuku nosuku nokwenza iqiniso lakhe libonakale ukuze kube neqhaza ekuthuthukisweni kokwelashwa okuphumelelayo nezinsiza kuye nakwabanye abantu, ngokushesha noma kamuva.

Zama ukugxila kukho Phila okwamanje Ukwenza indodana yethu ijabule ngokwamandla ayo, ukuyihlanganisa nomphakathi, nokwenza kube lula ukubamba iqhaza kwayo emisebenzini nezinye izingane kubalulekile. Sonke isikhathi okwabelwana ngaso, wonke umdlalo oshintshiwe, konke ukuzizwisa okuhle kuyabalulekile. Ukumomotheka namuhla kuwumuzwa ozuzwe kanzimaFuthi lokho kuyinto efanelekile ukuhlakulela nsuku zonke.

Kubalulekile futhi ukuthi ungakunaki ukuzinakekela komndeniAbanakekeli abayinhloko badinga ukuphumula, ithuba lokuveza imizwa yabo, nethuba lokucela usizo lapho ludingeka ukuze bagweme ukutubeka ngokomzimba nangokomzwelo. Ukufuna ukwesekwa ngokwengqondo, ukubamba iqhaza emaqenjini okukhulisa izingane, noma ukusebenzisa izinsiza zokunakekela isikhashana kungenza umehluko omkhulu.

Okuthile okubalulekile ukuthola ukwesekwa yizikhungo, izinhlangano nezinhlangano izinsiza ezikhethekile, lapho uzothola khona ulwazi oluqinisekisiwe, iseluleko sezomthetho nezenhlalo, izinsiza zemfundo futhi, ngaphezu kwakho konke, inethiwekhi yabantu abaqondayo ukuthi ubhekene nani.

Ngakho-ke, ungangabazi ukucabangela lawa makheli ezinhlanganweni ezigxile ezifweni ezingavamile, ezingakusiza ujulise ukuqonda kwakho isimo ngasinye futhi uthole izinsiza endaweni yangakini:

• Intandane Kuyingosi yenkomba yezilimi eziningi ngezifo nemithi engajwayelekile yezimo ezingaphezu kuka-6.000. Inikeza inhlobonhlobo yezinsizakalo, okuhlanganisa izincazelo zomtholampilo, izinsiza eziqondene nezwe elithile, nezixhumanisi eziya ezikhungweni zochwepheshe. orpha.net
• I-PubMed Inikeza ukufinyelela kusizindalwazi esikhulu sezindatshana zesayensi ze-biomedicine nesayensi yezempilo, enezixhumanisi zokuqukethwe okufinyeleleka ngokukhululekile, okuwusizo ekujuleni ocwaningweni lwamanje ngesifo esithile: ncbi.nlm.nih.gov
• NORD I-National Organization for Rare Disorders (NOAD) yinhlangano engenzi nzuzo ezinikele ekusizeni abantu abathintekayo izifo ezingavamile, ngolwazi, ukusekelwa nokukhuthazwa kocwaningo: hubeho-lbhebhs.org
• Izifo InfoSearch Kuyithuluzi lokusesha eliku-inthanethi kanye nesizindalwazi sezinsiza eziphathelene nezifo zofuzo, elixhumanisa imindeni ngolwazi nezinhlangano: genibalukha.org
• Isethenjwa sasekhaya se-Genetics Ihlinzeka ngolwazi oluqondakalayo mayelana namakhulu ezifo zofuzo, izakhi zofuzo ezihilelekile, nokuhlolwa kokuxilonga, okuklanyelwe imindeni neziguli: ghr.nlm.nih.gov

Ngaphezu kwalezi zinsiza, i- Usuku Lomhlaba Lwezifo Ezingavamile kanye nemikhankaso yaminyaka yonke ehambisana nayo yenza kutholakale umphakathi izinto zokufundisa, amavidiyo, ubufakazi kanye neziqondiso zezikhungo zemfundoUkujoyina le mikhankaso ngokwabelana ngolwazi, ukubamba iqhaza ezenzakalweni zomphakathi, noma ukusekela inhlangano kungaba yindlela ebalulekile yokuguqula ulwazi lwakho lomuntu siqu lube yiqoqo. umthombo woshintsho nobumbano.

Iqiniso lezifo ezingavamile lisikhumbuza ukuthi ukuxilongwa ngakunye kunendaba eyingqayizivele nokuthi, ngemuva kophawu ngalunye, kunabantu, imindeni kanye nochwepheshe abadonsa kanzima nsuku zonke. Ukuze wenze kubonakale, phenya, phelezela futhi wakhe amanethiwekhi okusekela Lezi yizinyathelo ezibalulekile ukuze kungabikho muntu ozizwa eyedwa kule ndlela ukuze, kancane kancane, igama elithi "ongaziwa" liyeke ukufana nokukhohlwa futhi libe ubizo... ukwabelana ngomthwalo wemfanelo kanye nokulingana ebuntwaneni.