Ngaba unemibuzo malunga nezifo ezingaqhelekanga? Masithethe ngale nto!

Ngaba wakha weva, okanye wakha weva kumntu wosapho lwakho okanye umhlobo, ngesifo esingaqhelekanga nesingaqhelekanga esichaphazela abantu kuphela? Ngamanye amaxesha kuthatha ixesha elide ukufumanisa ukuba siyintoni esi sifo. Ngoko ke namhlanje siza kuthetha ngezifo ezingaqhelekanga kangaka. Kubaluleke kakhulu ukwazi ngezi, kuba awusoze wazi ukuba siza kulufuna nini olu lwazi.

Yintoni isifo esingaqhelekanga?

Ngamafutshane, isifo esingaqhelekanga sisifo esichaphazela inani elincinci kakhulu labantu kuluntu. Ngoku, khangela, kwilizwe elifana neMelika, isifo esichaphazela abantu abangaphantsi kwamakhulu amabini amawaka sithathwa njengesifo esingaqhelekanga. ENgilane, isifo esichaphazela abantu abangaphantsi komnye kwabangama-2,000. Ngokutsho kweWorld Health Organisation (WHO), izifo ezichaphazela abantu abangaphantsi kwama-65 kwabangama-100,000 ziwela kolu didi. Ngoko ke uyabona, inkcazo yoku yahluka kancinci ngokwamazwe ngamazwe.

Okwangoku, abaphandi bafumanise izifo ezingaqhelekanga ezingaphezu kwama-7,000! Khawuthelekelele, zonke ezi zifo zichaphazela abantu abangaphezu kwezigidi ezingama-300 kwihlabathi liphela, uninzi lwabo ngabantwana abancinci. Kukho abantu abanezifo ezinjalo eSri Lanka, kodwa akuthethwa kakhulu ngazo.

Khawucinge ukuba wena okanye umntu omaziyo unesifo esingaqhelekanga esifana nesi. Bekuya kuba nzima kangakanani oko?

• Kungathatha iminyaka ukufumanisa ukuba siyintoni kanye kanye esi sifo. Ngamanye amaxesha, nokuba sele kudlule ixesha elithile kugqirha omnye emva komnye, kwanokuvavanywa rhoqo emva komnye, isifo asikwazi ukubonwa.
• Iimpawu zezi zifo zinokufana nezezinye izifo eziqhelekileyo, ngoko ke akubonakali kwangoko ukuba esi sisifo esingaqhelekanga.
• Iimpawu zinokwenza kube nzima ukwenza imisebenzi yemihla ngemihla, ukubamba umsebenzi, okanye ukwenza imisebenzi yasekhaya. Kwabanye, ukugqiba nje usuku kunokuba ngumceli mngeni omkhulu.
• Izifo ezininzi ezingaqhelekanga azikabi nanyango lusebenzayo.
• Ukuphila nesifo esifana nesi kunokuba ngumthwalo omkhulu wemali kwiintsapho. Kunokuba nzima ukuhlawula iindleko zamayeza nonyango.
• Bobabini isigulane kunye nabo bamnyamekelayo baziva bediniwe kakhulu engqondweni nasemzimbeni.

Kodwa isayensi ihambela phambili imihla ngemihla. Izazinzulu eziphanda ngezifo ezinje zihlala zizama ukufumana unobangela kwaye zenze unyango olutsha. Ngoko ke ungakhathazeki.

Ngaba kukho umahluko phakathi kwezifo ezingezizo ezizalwa ziinkedama kunye nezifo ezingaqhelekanga?

Abantu abaninzi basebenzisa amagama athi "isifo seenkedama" kunye "nesifo esingaqhelekanga" ngokutshintshana. Kodwa kukho umahluko omncinci. Izifo zeenkedama zizifo abaphandi abangakhange benze uphando oluninzi ngazo, okanye kwaphela (oku kungabandakanya izifo ezingaqhelekanga). Oku kudla ngokubangelwa yindleko ephezulu yophando.

Kodwa ngoku imeko itshintsha kancinci. Oorhulumente kunye nemibutho eyahlukeneyo kwihlabathi liphela baqalile ukwabela imali yophando "ngamayeza eenkedama" ukuze bafumane unyango lwezo "zifo zeenkedama."

Ziziphi ezinye zezifo ezingaqhelekanga?

Njengoko besitshilo ngaphambili, kukho amawaka ezifo ezingaqhelekanga. Ezinye zazo mhlawumbi ukhe weva ngazo. Ezinye azaziwa kangako. Nazi imizekelo embalwa:

• I-Acromegaly
• Isifo sika-Alice kwiWonderland
• I-Amyotrophic lateral sclerosis (ALS)
• I-anemia ye-Aplastic
• Icystic fibrosis
• I-Duchenne muscular dystrophy
• Isifo sika-Ehlers-Danlos
• Isifo sikaFabry
• Isifo seGaucher
• Isifo sikaHuntington
• I-Mesothelioma
• Isifo somchamo wesiraphu yeMaple
• Isifo seSickle cell

La magama asenokuvakala engaqhelekanga kancinci, kodwa zonke ezi ziimeko ezingaqhelekanga ezichaphazela abantu.

Zithini izizathu zezifo ezingaqhelekanga?

Kunokubakho izizathu ezahlukeneyo zokuvela kwezifo ezingaqhelekanga. Kukho iindidi ezintathu eziphambili zezizathu:

1. I-Genetics: Utshintsho kwi-genes luyimbangela ephambili yezifo ezininzi ezingaqhelekanga. Olu tshintsho lwe-genetic lunokufunyanwa kubazali bakho (i-germline mutation), okanye lunokwenzeka ngokungacwangciswanga emzimbeni wakho ngaphandle kokuba amalungu osapho abe nalo (i-somatic mutation).

2. Iintsholongwane/iintsholongwane: Usulelo olubangelwa ziintsholongwane ezithile lunokunqaba kakhulu. Umzekelo, izifo ezifana nesifo sephepha aziqhelekanga kwamanye amazwe kodwa zixhaphakile kwamanye.

3. Iityhefu: Ezinye iikhemikhali zinokuba nefuthe elibi emzimbeni kwaye zibangele izifo. Umzekelo, ukuchatshazelwa yi-asbestos kunokubangela i-mesothelioma, umhlaza wemiphunga ongaqhelekanga.

Ukongeza, kunokubakho ezinye izizathu:

• Ukungafumani ngokwaneleyo ivithamini okanye iminerali ethile (Ukunqongophala kokutya).
• Iingozi `(Ukwenzakala)`.
• Iziphumo ezingalindelekanga ngexesha lonyango lwesinye isifo.

Ngamanye amaxesha, kukho iimeko apho kungekho sizathu sifumanekayo sezi zifo zingaqhelekanga.

Zithini iimpawu zezi zifo?

Iimpawu zezifo ezingaqhelekanga zahlukile kakhulu enye kwenye. Ziyahluka ngokwesifo nenye. Njengoko bekutshiwo ngaphambili, ngamanye amaxesha ezi mpawu zifana kakhulu neempawu zezinye izifo eziqhelekileyo. Oku kwenza kube nzima ukuchonga isifo ngokuchanekileyo. Abanye abantu basenokungabonakalisi zimpawu kwaphela kwizigaba zokuqala.

Ukuba uneentlungu zomzimba, udiniwe rhoqo, kwaye awukwazi ukufumana unobangela, qiniseka ukuba ubonana nogqirha.

Zifunyaniswa njani izifo ezingaqhelekanga?

Ukuchonga isifo esingaqhelekanga kudla ngokuba nzima. Kukho izizathu ezahlukeneyo zoku:

• Iimpawu zifana nezinye izifo.
• Izifo ezininzi aziqhelekanga kangangokuba noogqirha abaziboni rhoqo, nto leyo eyenza kube nzima ukuzixilonga.

Kungathatha iminyaka ukufumanisa ukuba kwenzeka ntoni emzimbeni wakho. Oogqirha baza kukubuza ngeempawu zakho baze benze iimvavanyo, ezifana novavanyo lwegazi kunye novavanyo lwemifanekiso, ukuze bafumane okungakumbi. Oogqirha bayaqonda ukuba le nkqubo inokuba yingxaki kwaye iphazamise. Baza kwenza konke okusemandleni abo ukukunceda ufumanise imeko, okanye bakuthumele kwiingcali ezinolwazi kuloo ndawo.

Ufumanisa njani ukuba umntwana unezi zifo?

Kumazwe afana neMelika, umntwana ngamnye osandul’ ukuzalwa uvavanywa uthotho lweemvavanyo ezikhethekileyo ezibizwa ngokuba yi-"Newborn screenings." Ezi mvavanyo zisetyenziselwa ukufumanisa izifo ezithile ezingabonakaliyo ekuqaleni, kodwa ezinokubakho kumntwana (umz., isifo se-sickle cell, i-cystic fibrosis). Ezi "Newborn screenings" ziyindlela ebaluleke kakhulu yokuchonga izifo ezingaqhelekanga kwiintsana ezincinci. Ukuba isifo sifunyenwe kwangethuba, unyango lunokuqaliswa kumntwana ngokukhawuleza. Ezinye zezi mvavanyo zenziwa naseSri Lanka.

Ziziphi iindlela zonyango lwezifo ezingaqhelekanga?

Kukho iindlela ezahlukeneyo zonyango lwezifo ezingaqhelekanga:

• Amayeza
• Izongezo zesondlo okanye utshintsho kwindlela yokutya
• Unyango lomsebenzi
• Ezinye iinkqubo okanye utyando
• Ulungiso lwenyama
• Ukusetyenziswa kwezixhobo zonyango ezikhethekileyo

Iinjongo zonyango ziyahluka ngokuxhomekeke kwisifo:

• Ukunyanga ngokupheleleyo isifo (oku kudla ngokuba nzima ukukwenza).
• Ukuthintela ukuba esi sifo singabi sibi.
• Ukulawula iimpawu.

Okubuhlungu kukuba, izifo ezininzi ezingaqhelekanga azinanyango, kodwa abaphandi bayaqhubeka nokusebenza befuna unyango olunokunceda izigidi zabantu.

Ungabuza ugqirha wakho malunga nonyango olutsha oluvavanywayo (izilingo zeklinikhi) . Ezi zizifundo ezicwangciswe ngononophelo apho abaphandi bavavanya khona ukuba uvavanyo oluthile kunye nonyango lusebenza kakuhle kangakanani na. Ngokujoyina enye yezi, unokukwazi ukufumana unyango lwamva nje nolunokwenzeka ukuba lusebenze kakuhle kwimeko yakho.

Lumka naluphi na "unyango" okanye "unyango" olubona kwi-Intanethi. Ukuba udibana nalo, mbonise ugqirha wakho. Angakuxelela ukuba lukulungele na, ukuba luluncedo, okanye ukuba luchitha nje imali okanye luyingozi kuwe. Ezinye izinto zisenokungancedi konke konke, kwaye ezinye zinokukwenzakalisa.

Ikamva limphathele ntoni umntu onesifo esingaqhelekanga?

Ikamva lakho, okanye oko ikamva likuphetheyo, kuxhomekeke kwizinto ezininzi:

• Ithini imeko yakho yempilo ?
• Indlela esi sifo esafunyaniswa ngayo ngokukhawuleza .
• Zeziphi iindlela zonyango ezikhoyo ?
• Ziziphi ezinye iingxaki zempilo onazo?

Oogqirha bakho banokukuxelela okungakumbi ngezi zinto. Abantu abaninzi abanezifo ezingaqhelekanga baphila ubomi obonwabisayo nobude. Ngelishwa, ezinye izifo ezingaqhelekanga zinokunciphisa ubomi bomntu.

Khumbula, wonke umntu wahlukile. Nangona ungafunda lukhulu ngokuthetha nabanye abanesimo esifana nesakho, uhambo lwakho lunokwahluka. Umzekelo, ungatyhafi ukuba unyango olusebenzele omnye umntu alusebenzi kuwe. Oogqirha bakho baya kuqhubeka besebenza nawe ukuze bafumane ezona ndlela zilungileyo kuwe.

Ngaba izifo ezingaqhelekanga zinokuthintelwa?

Ngenxa yokuba izifo ezininzi ezingaqhelekanga zibangelwa zizinto ezibangelwa yimfuza, akukho nto ingako sinokuyenza ukuzithintela. Ukuba wena okanye iqabane lakho ninesifo esingaqhelekanga kwaye niceba ukuba nomntwana, kunokuba luncedo ukufuna ingcebiso ngemfuza . Umcebisi angachaza amathuba okuba umntwana wakho abe nesi sifo.

Udinga nini ukubona ugqirha wakho?

Ukuba ufumanisa iimpawu ezintsha okanye ukuba iimpawu zakho ziyatshintsha ngaphandle kwesizathu esicacileyo, bona ugqirha. Ukuba ukhe wabona oogqirha abaninzi kwaye abakwazi ukufumana unobangela, ungacela isalathiso kwiziko lezonyango eligxile ekuxilongeni, ekunyangeni, nasekuphandeni izifo ezingaqhelekanga.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Nazi ezinye zemibuzo ezinokukunceda ufunde okungakumbi emva kokuxilongwa:

• Ndenze njani ukuba ndibe kule meko?
• Zeziphi iindlela zonyango endinokuzifumana? Zenziwa njani?
• Ungathini ngekamva lam?
• Ungacebisa ukuba uthathe inxaxheba kuvavanyo lweklinikhi lonyango olutsha lovavanyo?
• Ingaba yinto elungileyo na ukuba nosapho lwam luvavanywe ngemfuza?
• Ungandidibanisa namaqela enkxaso yezigulane anje?

Ndingalufumana phi ulwazi nenkxaso?

Ukuphila nesifo esingaqhelekanga kunokuba nguwe wedwa ngamanye amaxesha. Kunokuba nzima ukufumana abanye abazali abayiqondayo imeko yakho, ingakumbi ukuba umntwana wakho ufunyaniswe enesifo. Thetha nogqirha wakho malunga nendlela onokuyakha ngayo inethiwekhi yabantu kunye nezixhobo onokuzisebenzisa wena nosapho lwakho ukuze ufumane inkxaso. Umzekelo, kunokubakho amathuba okujoyina amaqela enkxaso yezigulane kwi-intanethi okanye iimvavanyo zeklinikhi.

ESri Lanka, ezinye izibhedlele zikwanabo oogqirha abaziingcali abanceda abantu abanezifo ezingaqhelekanga. Kwakhona, eminye imibutho yokuzithandela inika inkxaso kwizigulana ezinjalo kunye neentsapho zazo. Ngoko ke yenza uphando oluthile.

Izinto ezibaluleke kakhulu ekufuneka sizikhumbule

Ukuphila nesifo esingaqhelekanga akulula, kodwa khumbula ukuba awuwedwa.

• Fumana ulwazi oluchanekileyo. Funda ngesifo sakho, unyango lwaso, kunye nophando lwamva nje.
• Qhagamshelana neqela lezonyango elilungileyo. Fumana oogqirha kunye nabasebenzi bezempilo abakuqondayo nabakuxhasayo.
• Joyina amaqela enkxaso. Ukuthetha nabantu abaye baba namava afana nawe ngumthombo omkhulu wamandla.
• Musa ukuphelelwa lithemba. Isayensi iqhubela phambili, kwaye kuza unyango olutsha.

Asisazi kangako ngezifo ezininzi ezingaqhelekanga. Kodwa abaphandi bafumanisa izinto ezintsha yonke imihla. Ngoko ke jongana nalo mceli mngeni ngenkalipho. Ungalibali ukuba kukho umntu onokukunceda, umntu oza kukuphulaphula.

Izifo ezingaqhelekanga , Izifo zeenkedama, Izifo zemfuza, Ukuxilongwa kwezonyango, Isifo esingapheliyo, Inkxaso yesigulana, Uvavanyo lweklinikhi