Ngaba nomntwana wakho unale meko imbi kangaka? Masifunde nge-SCID (Severe Combined Immunodeficiency)!

Ngaba umntwana wakho omncinci uhlala egula? Ngaba nokuba umkhuhlane omncinci ujika ube yinto enzulu? Ngamanye amaxesha, njengabazali, sikhathazeka kakhulu ngezi zinto. Namhlanje, siza kuthetha ngemeko engaqhelekanga eyoyikisayo nelawulekayo ukuba unolwazi olufanelekileyo. Ibizwa ngokuba yi-SCID (Severe Combined Immunodeficiency). Eli gama livakala lisoyikisa kancinci, kodwa masithethe ngalo ngokweenkcukacha nangokulula.

Yintoni i-SCID (Severe Combined Immunodeficiency)? Masiyiqonde ngokulula.

Ngamafutshane, i-SCID yimeko engaqhelekanga kakhulu . Okwenzekayo kukuba xa abantwana bezalwa, amajoni abo omzimba, alwa nezifo, abuthathaka kakhulu okanye angabikho kwaphela. Cinga ngenkqubo yethu yomzimba njengomkhosi okhusela ilizwe lethu. Yile nkqubo esikhuselayo ngokulwa neentshaba (oko kukuthi iintsholongwane) ezivela ngaphandle. Ngoko ke, lo "mkhosi" womntwana one-SCID ubuthathaka kakhulu, okanye phantse awukho kwaphela.

Oku kubizwa ngokuba yi-primary immunodeficiency disorder . Oko kuthetha ukuba yinto ekhoyo xa kuzalwa. Ke ngoko, kwiintsana ezine-SCID, nokuba sisifo esincinci esingasikhathaleliyo, njengomkhuhlane, kunzima ukusoyisa. Ukuba asinyangwa, esi sifo sinokuba yingozi ebomini kungekapheli nonyaka okanye emibini. Yiyo loo nto kubaluleke kangaka ukukwazi oku.

Yintoni ukungabikho komzimba okudibeneyo?

Inkqubo yethu yokuzikhusela yomzimba ifana nomkhosi wokhuselo emizimbeni yethu. Xa izinto zangaphandle, ezinje ngeentsholongwane , iibhaktheriya , iifungi , iiprotozoa , okanye iityhefu, zingena emzimbeni, lo mkhosi wokhuselo uyaziqonda aze aye kulwa. Amajoni aphambili kulo mlo ziiseli ezimhlophe zegazi . Phakathi kwazo , iilymphocytes zikhethekile. Kukho iintlobo ezintathu zeelymphocytes:

• Iiseli ze-T
• Iiseli ze-B
• Iiseli zoMbulali weNdalo (iiseli ze-NK)

Kwiintsana ezine-SCID, ezi T-cells zihlala zingenazo okanye zingabikho kwaphela. Ngenxa yokuba ii-B-cells zifuna uncedo kwii-T-cells ukuze zisebenze kakuhle, xa ii-T-cells zilahlekile, ii-B-cells nazo azisebenzi kakuhle. Yiyo loo nto ibizwa ngokuba "zidibeneyo" - kuba ludibaniso lweentlobo ezahlukeneyo ezibalulekileyo zeeseli zomzimba.

Kukho iintlobo ezahlukeneyo ze-SCID, kuxhomekeke kuhlobo lweeseli zomzimba umntwana angekho kuzo. Kodwa zonke ezi ntlobo zinobungozi ngokulinganayo. Oogqirha baya kukuchazela ukuba loluphi uhlobo umntwana wakho analo.

Ixhaphake kangakanani i-SCID?

I-SCID yimeko engaqhelekanga kakhulu.Umzekelo, eMelika, le meko ichaphazela malunga nesana elinye kwi-50,000 ezizalwa minyaka le.

Kodwa xa ufumanisa ukuba umntwana wakho unento efana nale, ukuba ayiqhelekanga kangakanani, akunjalo? Iyoyikisa kakhulu, ibuhlungu kakhulu. Xa usiva ngesifo esifana ne-SCID, asilogama nje, siba yinyani enempembelelo enkulu ebomini bakho.

Zithini iimpawu ze-SCID?

Ngamanye amaxesha umntwana one-SCID usenokungabi nazo iimpawu ezithile zangaphandle ekuqaleni. Nangona kunjalo, ezona mpawu ziqhelekileyo ziquka:

• Ubunzima bomntwana abunyuki ngokufanelekileyo.
• Urhudo olungapheliyo.
• Izifo ezixhaphakileyo neziqatha.

Oku kungenxa yokuba inkqubo yomzimba yokuzikhusela yomntwana ibuthathaka kakhulu, ngoko ke ayinampendulo ingako okanye ayinampendulo konke konke kwisifo. Oku kuthetha ukuba umntwana wakho unethuba elikhulu lokugula kunabanye abantwana. Kwakhona, ukuba bayagula, iimpawu zabo zinokuba qatha kakhulu kunezinye.

Iintsana ezine-SCID zisengozini enkulu yokufumana zonke iintlobo zosulelo. Oku kuquka:

• Usulelo lweebhaktheriya
• Usulelo lwentsholongwane
• Usulelo lwefungus
• Usulelo lwezibungu

Nangona nasiphi na isifo sinokuba yingozi, kukho iintlobo ezahlukeneyo zosulelo ezixhaphake kakhulu kwiintsana ezine-SCID:

• Izifo zemvubelo ezifana ne-thrush okanye i-diaper rash emlonyeni naselulwimini.
• Iqhwiqhwi.
• Amaqhuqhuva ajikeleze umlomo (Izilonda zomkhuhlane - i-herpes simplex).
• Usulelo lwendlebe.
• Ukukrala kwemiphunga.
• I-Meningitis (umkhuhlane wobuchopho).

Ukuba umntwana wakho uyaqhubeka nokuba nezi mpawu, kufuneka ubone ugqirha ngokukhawuleza.

Yintoni ebangela i-SCID?

I-SCID sisifo semfuza . Oko kuthetha ukuba sibangelwa kukutshintsha kwemfuza , okanye utshintsho nje kwiimfuza zethu. Izazinzulu zichonge ngaphezulu kweshumi elinesibini kwezi nguqu zemfuza ezinokubangela i-SCID.

Ezi nguqu zemfuza zifunyanwa ngabazali ukuya ebantwaneni. Zinokufunyanwa njenge- autosomal recessive okanye i-X-linked .

• I-Autosomal recessive ithetha ukuba ukuze umntwana abe nale meko, kufuneka azuze i-gene eguquliweyo kumama nakutata wakhe.
• I-X-linked SCID ibangelwa kukuguquka kwezakhi zofuzo kwi-chromosome X. Idla ngokuchaphazela kakhulu abafana, kuba abafana bane-chromosome enye ye-X, ngelixa amantombazana ene-chromosome ezimbini ze-X.

Ziziphi iingxaki ezinokubakho ze-SCID?

Eyona ngxaki inkulu neyingozi kukuba umntwana akanayo inkqubo yomzimba yokulwa nosulelo. Ekubeni umzimba womntwana ungakwazi ukulwa nosulelo oluncinci, umngcipheko wokuba neengxaki ezinkulu uphezulu kakhulu kunabanye abantwana.

Nezifo ezingaqhelekanga ukuba zimbi kakhulu zinokubangela iingxaki ezisongela ubomi kumntwana one-SCID.

Ukuba imeko ayifunyaniswanga kwaye ayinyangwa xa izalwa, i-SCID idla ngokuba yingozi.

Oogqirha bayixilonga njani i-SCID?

Oogqirha baxilonga i-SCID ngovavanyo lwegazi . Olu vavanyo lwenziwa ngokuthatha isampuli yegazi elincinci esithendeni somntwana emva nje kokuzalwa.

Ezinye izibhedlele eSri Lanka nazo zenza olu vavanyo kwiintsana ezisandul’ ukuzalwa, ingakumbi ukuba kukho umntu kusapho lwakhe owakha waba nezi meko zinjalo ngaphambili. Oku kubaluleke kakhulu, kuba ukuba isifo sifunyenwe kwangethuba, unyango lunokuqaliswa ngaphambi kokuba kuvele usulelo olukhulu.

Ngaba kukho unyango lwe-SCID?

Ewe, kukho unyango lwe-SCID. Iintsana ezine-SCID kufuneka zifakelwe i-stem cell okanye zifakelwe i-bone marrow ngokukhawuleza. Oku kuquka ukufaka ii-stem cells eziphilileyo ezivela kumntu onikelayo emzimbeni womntwana. Ezi seli ziphilileyo zinceda umntwana ukuba akhe inkqubo entsha yokuzikhusela yomzimba enamandla enokulwa nosulelo.

• Abona banikeli babalaseleyo ngabantakwabo abangenayo i-SCID.
• Ukuba akukho mntu unjalo, oogqirha bajonga iirejista zeeseli ze-stem . Ezi ziidathabheyisi zeeseli ze-stem ezinikelwe luluntu.

Ngelixa ulinde ukufakelwa i-stem cell, umntwana wakho usenokufuna olunye unyango. Umzekelo:

• Ii-antibiotics - Zithintela ukosuleleka ziintsholongwane.
• Ii-Antivirals - Zithintela ukosuleleka ziintsholongwane.
• I-Antifungals - Ithintela usulelo lwefungus.
• Ukufakwa kwe-IVIG - Oku kwenziwa ngokunika ii-antibodies ezivela ngaphandle komzimba ukukhusela kwiintsholongwane.
• Unyango lwe-Gene - Olu lunyango oluvavanywayo, kodwa lunokuphumelela kwezinye iintlobo ze-SCID.

Zonke ezi ziindlela zonyango zexeshana, i-SCID ayinakunyangwa ngokupheleleyo. Indlela ekuphela kwayo yokunyanga i-SCID kukufakelwa i-stem cell.

Ngelixa ulinde ukufakelwa i-stem cell, umntwana usenokufuna ukubekwa kwindawo yokwahlulwa engenazintsholongwane . Oku kuthetha ukuba yonke into engena kwigumbi lomntwana kufuneka ihlanjululwe. Oku kwenzelwa ukukhusela umntwana kwiintsholongwane.

Abanye abantu bathi i-SCID "yi-bubble baby disease" kuba umntwana ugcinwe kwi-bubble ekhuselekileyo. Kodwa eli gama alichanekanga ngokwezonyango, kwaye linokuba yingozi kumntwana nakubazali. Awenzanga nto imbi, kwaye impilo yomntwana wakho ayiyonto yokuthatyathwa lula.

Yintoni endimele ndiyilindele ukuba umntwana wam une-SCID?

I-SCID yimeko enokuba yingozi ukuba ayinyangwa ngokukhawuleza. Kungoko ke, kubaluleke kakhulu ukufumanisa ngokukhawuleza ukuba umntwana wakho une-SCID. Okukhona oogqirha bekwazi ukufumanisa isifo ngokukhawuleza baze bamthumele umntwana ukuba atyandwe i-stem cell, kokukhona amathuba okusindisa ubomi bomntwana angcono.

Usenokungakwazi ukubamba nokugona umntwana wakho kangangoko ufuna. Ukuba umntwana wakho ukwindawo engenazintsholongwane, eyedwa, kuya kufuneka ulandele imithetho engqongqo yococeko ukukhusela umntwana wakho kwiintsholongwane. Oogqirha baya kukuchazela konke oku. Baza kukuxelela nento omawuyilindele ngaphambi nasemva kokufakelwa i-stem cell.

Ingakanani iminyaka yobomi bomntwana one-SCID?

Ngaphandle konyango, iintsana ezine-SCID zihlala zifa kungekapheli nonyaka okanye emibini. Nangona kunjalo, abantwana abafumene ukufakelwa iiseli ze-stem ngempumelelo banokuphila ubomi obuqhelekileyo. Xa imizimba yabo ikhula ngamandla omzimba, abahlali benengxaki yexesha elide.

Ngaba i-SCID ingathintelwa?

I-SCID ibangelwa ziinguqu zemfuza esingenakuzilawula, ngoko ke akukho nto sinokuyenza ukuyithintela. Ukuba unembali yosapho olunezi ngxaki zemfuza, thetha nogqirha wakho malunga nokufumana iingcebiso zemfuza ngaphambi kokuba ube nomntwana.

Ndifanele ndimbone nini ugqirha?

• Ukuba umntwana wakho uhlala egula, okanye ebonisa iimpawu ezinzima ngexesha lokugula, bonana nogqirha ngokukhawuleza.
• Ukuba sele uyazi ukuba umntwana wakho une-SCID, xelela ugqirha wakho ngoko nangoko ukuba ubona naluphi na utshintsho kwimpilo yomntwana wakho (umz., umkhuhlane, ukukhwehlela, urhudo). Ekubeni umzimba womntwana wakho ungenakukwazi ukulwa nosulelo ngokwawo, kungxamisekile ukuba umnike amayeza okubulala iintsholongwane okanye amanye amayeza ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kuqhelekile ukuziva uxinezelekile kwaye wothukile xa ufumanisa ukuba umntwana wakho une-SCID. Kodwa ungoyiki ukubuza ugqirha wakho nayiphi na imibuzo onayo. Kubalulekile ukuba ucacelwe ngayo yonke into okwangoku. Ungabuza imibuzo efana nale:

• Ngaba umntwana wam une-SCID okanye enye imeko yokungakwazi ukuzikhusela komzimba?
• Ngaba umntwana wam kuya kufuneka agcinwe kwindawo yokuzihlukanisa engenazintsholongwane?
• Umntwana wam uza kuyidinga nini into yokufakelwa i-stem cell?
• Zeziphi iinguqu okanye iimpawu ekufuneka ndiziqaphele ngakumbi kumntwana wam?

Khumbula, kubaluleke kakhulu ukuceba ukufakelwa i-stem cell yomntwana wakho ngokukhawuleza. Kwakhona, unelungelo lokuqonda yonke into eyenzekayo. Oogqirha baza kukuchazela yonke into baze bakuxelele into omawuyilindele.

Okokugqibela, umyalezo oya ekhaya:

I-SCID (Severe Combined Immunodeficiency) yimeko enzulu neyoyikisayo. Nangona kunjalo, ukuqaphela kwangethuba, ukufuna ingcebiso kagqirha kwangoko nje ukuba iimpawu zibonakale, kunye nokufumana unyango olufanelekileyo kunokusindisa ubomi bomntwana.

• Ukuxilongwa kwangethuba: Kubaluleke kakhulu ukuchonga i-SCID ngokuhlolwa kosana olusandula ukuzalwa okanye ngokukhawuleza nje ukuba iimpawu zibonakale.
• Ukufakelwa kweeseli zesiqu: Olu lolona nyango luphambili noluphumelele kakhulu lwe-SCID.
• Indawo ekhuselekileyo: Kubalulekile ukukhusela umntwana kwiintsholongwane ngexesha lonyango.
• Amandla engqondo: Eli lingaba lixesha elinzima njengomzali. Funa inkxaso koogqirha, kusapho, nakubacebisi.

Awuwedwa. Ngenxa yenkqubela phambili kwisayensi yezonyango, abantwana abane-SCID ngoku banokuphila ubomi obusempilweni nobupheleleyo. Hlala uqinile kwaye unethemba.

Ukuzikhusela komzimba , i-SCID, izifo zobuntwana, izifo zemfuza, ukufakelwa komongo wamathambo, ukusilela kwamasosha omzimba, izifo ezosulelayo