Ingaba umntwana wakho unazo ezi mpawu? Masithethe ngePrader-Willi Syndrome

Ngaba umntwana wakho wayediniwe kakhulu, engenabomi, kwaye wayenengxaki yokuncancisa xa wayezalwa? Kodwa xa wayekhula kancinci, malunga neminyaka emibini okanye emithathu ubudala, ngaba waqala ukubonisa ukutya okungaqhelekanga kunye nokungabi namdla wokutya? Usenokuba ukhathazekile kwaye woyika kancinci ngolu tshintsho. Namhlanje sithetha ngemeko engaqhelekanga yemfuza ebonisa ezi mpawu, abantu abaninzi kwilizwe lethu abangazange beve ngazo, kodwa ebaluleke kakhulu ukwazi ngayo. Leyo yiPrader-Willi Syndrome.

Yintoni iPrader-Willi Syndrome (PWS)?

Ngamafutshane, i-Prader-Willi syndrome (PWS) yimeko engaqhelekanga yemfuza ebakho ukususela ekuzalweni. Ichaphazela imetabolism yomntwana, inkqubo apho ukutya esikutyayo kuguqulwa kube ngamandla. Ikwachaphazela nophuhliso lomntwana kunye nokuziphatha kwakhe.

Kule meko kukho amanqanaba amabini aphambili.

1. Usana Lwasekuqaleni: Izihlunu zomntwana azinabomi okanye zinemisipha ephantsi kakhulu. Oku kwenza kube nzima kakhulu ukuncancisa. Umntwana usenokuba ulele kwaye udiniwe.

2. Ubuntwana Basekuqaleni: Phakathi kweminyaka emi-2 neyi-6, kwenzeka into eyahlukileyo ngokupheleleyo. Oko kukuthi, umntwana uba nomdla ongalawulekiyo nogqithisileyo wokutya. Nokuba utya kangakanani na, akaziva ehluthi. Ukuba oku kutya kakhulu akulawuleki, umntwana unokuba mkhulu kakhulu.

Ukongeza kwezi mpawu ziphambili, umntwana usenokuphoswa ziindlela zokukhula ezifanelekileyo ngokweminyaka, ezifana nokukhasa, ukuhamba, nokuthetha. Ukufikisa nako kunokulibaziseka. Ukuba akulawulwa kakuhle, ukutyeba kakhulu kunokukhokelela kwiingxaki ezisongela ubomi ezifana nesifo sentliziyo, isifo seswekile, kunye ne-sleep apnea.

Ngubani ofumana le meko? Ixhaphake kangakanani?

Le yimeko yemfuza enokuchaphazela nabani na. Idla ngokubangelwa lutshintsho olungaqhelekanga lwemfuza olwenzeka xa iiseli zentsholongwane zikamama notata zenzeka. Oku kuthetha ukuba ayibangelwanga yimpazamo yabazali. Amaxesha amaninzi, ukuba kukho umntu kusapho oye waba nale meko, kukho ithuba elincinci lokuba idluliselwe kwizizukulwana ngezizukulwana.

Kuqheleke kakhulu ukuba isifo iPrader-Willi sichaphazele umntu omnye kwabayi-10,000 ukuya kwabayi-30,000 kwihlabathi liphela. Oku kuthetha ukuba sisifo esingaqhelekanga kakhulu.

Zithini iimpawu zePrader-Willi syndrome?

Ezi mpawu zinokwahluka kumntu nomntu, kodwa kukho ezinye iimpawu eziqhelekileyo. Masizihlele ngolu hlobo ukuze zicace ngakumbi.

Kutheni le meko isenzeka? Yintoni imbangela yemfuza?

Oku kuyinkimbinkimbi kancinci, kodwa masizame ukukuqonda ngokulula.

Iseli nganye yethu inephakheji yolwazi lwemfuza. Ezi chromosome sizibiza ngokuba zii-chromosomes. Sifumana ezingama-23 kwezi chromosomes kumama wethu kunye nezingama-23 kutata wethu. I-Prader-Willi syndrome ibangelwa yingxaki kwinxalenye yechromosome 15 esiyifumana kutata wethu.

Kwenzeka into ekhethekileyo apha. Ibizwa ngokuba yi-`(genomic imprinting)`. Ngamafutshane, kwezinye ii-genes kwi-chromosome 15, ikopi evela kutata iyavulwa, kwaye ikopi evela kumama iyavulwa. Oku 'kuvuliwe', oko kukuthi, ikopi esebenzayo evela kutata ibalulekile ukuze umzimba usebenze ngokufanelekileyo . Kwi-PWS, le kopi esebenzayo evela kutata ilahlekelwa ngumsebenzi wayo.

Kunokubakho izizathu ezintathu eziphambili zoku.

Ugqirha uxilonga njani esi sifo?

Xa usiya kugqirha kuba ukhathazekile ngeempawu zomntwana wakho, into yokuqala aza kuyenza kukuvavanya umzimba womntwana wakho. Uza kujonga ngenyameko inkangeleko yomntwana wakho, ithoni yemisipha, kunye nokuziphatha kwakhe. Uza kukubuza nangeendlela zokutya zomntwana wakho kunye nokulibaziseka kokukhula kwakhe.

Ukuba ugqirha urhanela ukuba i-PWS ibangelwa zezi mpawu, uya kuyalela uvavanyo lwemfuza ukuqinisekisa oko.Oku kudla ngokwenziwa ngokuthatha isampuli yegazi lomntwana kunye nokuchonga utshintsho kwi-DNA ekuyo .

Inyangwa njani? Ngaba akunakwenzeka ukuba inyangwe ngokupheleleyo?

Enyanisweni, akukho nyango lwePrader-Willi syndrome okwangoku. Kodwa ungakhathazeki. Kukho unyango oluninzi olunokunceda ukulawula iimpawu, ukuthintela iingxaki, kunye nokunceda umntwana wakho aphile ubomi obulungileyo. Iinjongo eziphambili zonyango zezi:

• Ulawulo lwesondlo: Izixhobo ezikhethekileyo ezifana neengono zebhotile zingasetyenziswa ukunceda umntwana wakho asele ubisi ebuntwaneni. Njengoko umntwana wakho ekhula, kubalulekile ukuba anike umntwana ukutya okunekhalori ephantsi nokulinganiselayo kwaye alawule ngokungqongqo ubungakanani bokutya akutyayo. Ngamanye amaxesha, kusenokufuneka nokuba atshixe izinto ezifana neekhabhathi kunye neefriji ekhaya.
• Unyango lweehomoni: Ihomoni yokukhula inikwa ukunceda umntwana akhule. Njengoko ukufikisa kuqhubeka, abafana banokufuna ukunikwa i-testosterone kwaye amantombazana anokufuna i-estrogen.
• Iindlela zonyango ezixhasayo:
• Unyango lomzimba: Lunceda ukuqinisa izihlunu nokuphucula ibhalansi.
• Unyango lolwimi lokuthetha: Lunceda ukoyisa ubunzima bokuthetha.
• Imfundo ekhethekileyo: Inika inkxaso kwimisebenzi yokufunda eyenzelwe ubuchule bomntwana bokucinga.

Liza kuba njani ikamva ukuba umntwana wam une-PWS?

Kuqhelekile ukuba abazali bazive bothukile kwaye besoyika xa befumanisa ngale meko. Kodwa khumbula, ngokufunyaniswa kwangoko kunye nonyango oluqhubekayo kunye nenkxaso, abantwana abane-PWS banokuphila ubomi obuqhelekileyo.

Ewe, kukho imingeni. Baza kufuna uncedo olongezelelekileyo ngomsebenzi wesikolo. Baza kufuna inkxaso ethile ebomini babo bonke. Kodwa banokuncedwa ukuba bazimele kangangoko banako kwaye basebenzise izakhono zabo ngokupheleleyo.

Kubalulekile ukudibana nogqirha wezondlo ukuze uphuhlise isicwangciso sokutya esifanelekileyo kumntwana wakho, kwaye ufumane ingcebiso kumcebisi wezempilo yengqondo . Kwakhona, ukujoyina amaqela enkxaso nabanye abazali abanamava afana nawe kuya kuba ngumthombo omkhulu wamandla.

Yeyiphi imibuzo omele uyibuze ugqirha?

Xa usiya kugqirha, ungalibali ukubuza le mibuzo.

• Ndingenza ntoni ukuze umntwana wam angabi nesifo sokutyeba kakhulu?
• Loluphi unyango olufunekayo kumntwana? Lunikwa njani?
• Ziziphi iingxaki zokuziphatha endinokuzilindela kumntwana wam?
• Ngaba kukho amaqela enkxaso esinokufikelela kuwo ukuze sifumane uncedo lokuphila nale meko?
• Ngaba abanye abantu bosapho lwam kufuneka benze uvavanyo lwemfuza?

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga nesinganyangekiyo. Kodwa awuwedwa. Iqela lezonyango lomntwana wakho liza kukunika inkxaso kunye nolwalathiso olufunekayo. Umntwana wakho usenokufuna ixesha elingakumbi kunye noncedo kunabanye abantwana. Kodwa ngolawulo olufanelekileyo, umntwana wakho unokonwaba naye.