Ukuthi yini i-Prader-Willi Syndrome? Izimpawu, Izimbangela, & Ukwelashwa

I-Prader-Willi syndrome iyisimo esingavamile se-genetic esithinta indlela umzimba wakho ophakama futhi usebenza ngayo kusukela ekuzalweni. Kwenzeka lapho ama-gene athile ekhromosome 15 engasebenzi kahle, okuholela ezingxabanweni zokukhula, ukulawula ukudla, nokuthuthuka.

Lesi simo siqopha izici eziningi zokuphila komuntu, kusukela ekukhuleni komzimba kuya ekufundeni nasekuziphatheni. Ngesikhathi kudinga ukunakekelwa okuphila konke nokwesekwa, abantu abane-Prader-Willi syndrome bangaphila impilo ezele ngokunethezeka ngokunakekelwa okufanele kwezokwelapha, ukwesekwa komndeni, namithombo yomphakathi.

Yini i-Prader-Willi Syndrome?

I-Prader-Willi syndrome iyisifo esiyinkimbinkimbi se-genetic esithinta cishe umuntu o-1 ku-15,000 kuya ku-30,000 emhlabeni jikelele. Kwenzeka lapho ama-gene athile ekhromosome 15 elahlekile noma engasebenzi kahle.

Lesi simo sidala iphethini ehlukile yezimpawu ezishintsha njengoba umuntu ekhula. Ebuntwaneni, izingane zivame ukulwa ne-muscle tone ephansi nobunzima bokudla. Njengoba zikhula, ngokuvamile phakathi kweminyaka engu-2 kuya ku-8, inja ye-intense, ecishe inganelisekile, ithuthukiswa engadala ukwanda okukhulu kwesisindo uma ingalawulwa ngokucophelela.

Okwenza lesi simo sibe inselele ngokukhethekile ukuthi sithinta i-hypothalamus, ingxenye encane kodwa ebalulekile yobuchopho elawula indlala, ukukhula, ubushushu bomzimba, nemiqondo. Cabanga ngakho njengendawo yokulawula yomzimba wakho esiza ukulawula imisebenzi eminingi ezenzakalelayo.

Ziyini izimpawu ze-Prader-Willi Syndrome?

Izimpawu ze-Prader-Willi syndrome zishintsha kakhulu njengoba umuntu ekhula, edala izigaba ezihlukile imindeni nabachwepheshe bezempilo abazibona. Isigaba ngasinye siletha izinselele nezidingo zaso.

Phakathi nobuntwana (ukuqala kuya eminyakeni engu-2), ungase uqaphele:

• I-muscle tone ephansi kakhulu, okwenza ingane izizwe “iqinile” lapho ibambekele
• Ukulila okubuthakathaka nobunzima bokuchotshozela noma ukudla
• Ukukhula okubi kwesisindo naphezu kokuzimisela ukudla
• Ukulala okukhulu nokuncipha komsebenzi
• Izici zobuso ezihlukile njengeziso ezinobukhulu be-almond nomlomo ophezulu onqamile
• Izandla nezinyawo ezincane ngokulingana nomzimba wazo

Njengoba izingane zingena ebuntwaneni obuqalayo (iminyeka engu-2 kuya ku-8), kwenzeka izinguquko ezinkulu:

• Indlala enkulu ebonakala inganelisekile
• Ukukhula okusheshayo kwesisindo uma ukufinyeleleka kokudla kungalawulwa
• Ubude obukhulu kunabanye
• Ukulibaziseka ekukhuleni kokukhuluma, amakhono omoya, nokufunda
• Izinselele zokuziphatha njengokuthukuthela nokuqina
• Izinkinga zokulala, kufaka phakathi ukulala okukhulu emini

Ebusheni nasebudaleni, ezinye izimpawu zingafaka:

• Ukukhula okungapheli kwezocansi nokungakhuleli
• Izinselele ezqhubekayo zokulawula isisindo
• Ukukhathazeka ngempilo yengqondo njengokukhathazeka noma ukuziphatha okunamandla
• Ubunzima bokuxhumana nabantu nokulawula imizwelo
• I-Scoliosis (umgogodla oqondile) kwezinye izimo

Lezi zimpawu zingase zihluke kakhulu kumuntu ngamunye. Abanye abantu bangaba nezimpawu ezilula, kanti abanye babhekene nezinselele ezinkulu. Okubalulekile ukuqaphela kwasekuqaleni nokusekela okufanele.

Yini ebangela i-Prader-Willi Syndrome?

I-Prader-Willi syndrome iyenzeka ngenxa yezinkinga ngama-gene ekhromosome 15, ikakhulukazi lawo avela ngakolunye uhlangothi lobaba. Lokhu akuyona into abazali abayibangela noma ababengazivikela.

Kunezizathu ezintathu eziyinhloko ze-genetic, ngayinye ithinta indlela ama-gene asebenza ngayo:

• Ukucisha (cishe amaphesenti angu-70 ezimo): Ingxenye encane yekhromosome 15 ilahlekile
• I-Uniparental disomy (cishe amaphesenti angu-25 ezimo): Ingane ithola amakhophi amabili ekhromosome 15 umama futhi ayikho umama
• Iphutha lokubhala (cishe amaphesenti angu-5 ezimo): Ama-gene akhona kodwa avuliwe lapho kufanele asebenze

Lezi zinguquko ze-genetic zenzeka ngokungahleliwe phakathi kokwakheka kwamaselula okuzala noma ekuqaleni kokukhula kombungu. Ezimweni eziningi, ayithathwa kubazali, nakuba kungavamile, ezinye imindeni ingaba nenkinga enkulu yokuba nengane enye enalesi simo.

Ama-gene athintekayo avame ukusiza ukulawula ukudla, ukukhula, ukukhula kwemisipha, nezinye imisebenzi ebalulekile. Lapho engasebenzi kahle, kudala iphethini enkulu yezimpawu esizibona kwi-Prader-Willi syndrome.

Nini okufanele ubheke udokotela nge-Prader-Willi Syndrome?

Uma uqaphela izimpawu ezinkulu ezinganeni zakho noma ezinganeni zakho, kubalulekile ukukhuluma nomhlinzeki wakho wezempilo ngokushesha. Ukuxilongwa kwasekuqaleni nokungenelela kungenza umehluko omkhulu ekulawuleni lesi simo.

Xhumana nodokotela wakho uma uqaphela lezi zibonakaliso zokuqala kubantwana abasebancane:

• Ukuqina okukhulu noma i-muscle tone ebuthakathaka
• Ubunzima bokudla noma ukukhula okubi kwesisindo
• Ukulala okukhulu noma ukuncipha kokusebenza
• Ukulila okubuthakathaka noma izici zobuso ezingavamile
• Ukulibaziseka kwamakhono okuthuthuka

Ngezingane ezindala, funa ukunakekelwa kwezokwelapha uma uqaphela:

• Ukwanda ngokuzumayo kokudla noma ukukhula okusheshayo kwesisindo
• Ukuziphatha okukhathazayo ngokudla noma ukudla
• Ukulibaziseka okukhulu ekukhuleni
• Izinqubo zokuziphatha noma ubunzima bomzwelo
• Izibonakaliso zokukhula okungapheli kwezocansi kubasakhulayo

Khumbula, ukuxilongwa kwasekuqaleni kusiza imindeni ukufinyelela ekunakekelweni okufanele kwezokwelapha, ukwesekwa kokudla, namithombo yemfundo. Iqembu lakho lezempilo lingakunikeza isiqondiso futhi likuxhumanise nochwepheshe abaqonda lesi simo.

Ziyini izici ezingozi ze-Prader-Willi Syndrome?

I-Prader-Willi syndrome ngokuvamile iyenzeka ngokungahleliwe, okusho ukuthi imindeni eminingi ayinazo izici ezingozi ezaziwayo. Izinqubo ze-genetic zenzeka ngokungahleliwe phakathi kokukhula kwasekuqaleni.

Kodwa-ke, kunezimo ezimbalwa lapho ingozi ingase ikhuphuke kancane:

• Ubudala obukhulu bomama (ngaphezulu kweminyaka engu-35), nakuba lokhu kuyingozi encane eyongeziwe
• Umbukiso omkhulu womndeni wezinkinga zekhromosome
• Ingane yangaphambili ene-Prader-Willi syndrome (nakuba ukuphindaphinda kungavamile)

Kubalulekile ukuqonda ukuthi ukuba nengane ene-Prader-Willi syndrome akubangelwa yilutho abazali abalwenzile noma abangazange balwenze. Lesi simo sithinta zonke izizwe futhi senzeka emhlabeni jikelele ngokulingana okufanayo.

Uma unomlando womndeni wezimo ze-genetic noma ube nengane ene-Prader-Willi syndrome, ukwelulekwa kwe-genetic kungakunikeza ulwazi oluqondene ngezingozi nezinketho zokuhlela umndeni.

Ziyini izinhlanganisela ezingaba khona ze-Prader-Willi Syndrome?

I-Prader-Willi syndrome ingadala izinhlanganisela eziningi zezempilo ezidinga ukunakekelwa okuqhubekayo kwezokwelapha nokulawulwa okucophelelayo. Ukuqonda lokhu kusiza imindeni ukulungiselela nokufuna ukunakekelwa okufanele.

Izinhlanganisela ezivamile kakhulu zifaka:

• Ukukhuluka kwesisindo nezinhlanganisela zezempilo ezihlobene njengesihlalo seswekile nesifo senhliziyo
• Izinkinga zokulala, kufaka phakathi i-sleep apnea
• Izinselele zokuziphatha nezingqondo
• Izinkinga zamathambo njenge-osteoporosis ne-scoliosis
• Izinkinga zamahlombe ngenxa yokuqina kokukhipha umlomo nokuqina kwamazinyo
• Ukukhipha isikhumba okungadala ukutheleleka

Izinhlanganisela ezinzima kodwa ezingavamile zingafaka:

• Ukukhuluka kwesisindo okukhulu okuholela ebunzimeni bokuqeda umoya
• I-Gastric necrosis (izinkinga zesisu) ngenxa yokudla okukhulu
• Ukuhlwitha ngenxa yokudla okusheshayo
• Izehlakalo zokuziphatha ezinkulu ezidinga ukungenelela
• Ukuhlukaniswa komphakathi nezinselele zobuhlobo

Izindaba ezinhle ukuthi izinhlanganisela eziningi zingaqalekelwa noma zilawulwe ngokunakekelwa okufanele kwezokwelapha, ukwesekwa kokudla, nokungenelela kokuziphatha. Ukuqapha okuqhubekayo neqembu eliqinile lokusekela kwenza umehluko omkhulu emiphumeleni.

I-Prader-Willi Syndrome ingavikeleka kanjani?

Okwamanje, ayikho indlela yokuvimbela i-Prader-Willi syndrome ngoba ivela ezinqubweni ze-genetic ezingahleliwe ezenzeka phakathi kokukhula kwasekuqaleni. Lesi simo asibangelwa yizici zemvelo noma izenzo zabazali.

Kodwa-ke, uma uhlela ukukhulelwa futhi ukhathazekile ngezimo ze-genetic, ukwelulekwa kwe-genetic kungaba usizo. Umluleki we-genetic angaxoxa ngomlando womndeni wakho futhi achaze izinketho zokuhlola ezitholakalayo.

Emindenini esesithinteke yi-Prader-Willi syndrome, ukugxila kuguqukela ekuvimbeleni izinhlanganisela ngokungenelela kwasekuqaleni nokunakekelwa okuqhubekayo. Lokhu kufaka ukumisa imikhuba emihle yokudla, ukudala izindawo zokudla eziphephile, nokuklama izinhlelo zokusekela ezinamandla.

I-Prader-Willi Syndrome ixilongwa kanjani?

Ukuxilongwa kwe-Prader-Willi syndrome kuhilela ukuqapha okucophelelayo kwezimpawu nokuhlolwa okuqondile kwe-genetic. Inqubo ngokuvamile iqala lapho odokotela beqaphela izibonakaliso ezifanele ebuntwaneni noma ebuntwaneni obuqalayo.

Umhlinzeki wakho wezempilo ngokuvamile uzoqala ngokuhlolwa komzimba nokubuyekezwa kwezimpawu. Bazobheka izici ezihlukile njenge-muscle tone ephansi, ubunzima bokudla, nezici zobuso ezihlukile.

Ukuxilongwa okuqinisekile kudinga ukuhlolwa kwe-genetic, okungafaka:

• Ukuhlolwa kwe-methylation ukuhlola amaphethini omsebenzi we-gene
• Ukuhlaziywa kwekhromosome ukubheka ukucisha
• Ukuhlolwa okwengeziwe ukuthola imbangela ethile ye-genetic

Ukuxilongwa kwasekuqaleni kubaluleke kakhulu ngoba kuvumela imindeni ukufinyelela ekunakekelweni okukhethekile kwezokwelapha, ukwesekwa kokudla, namithombo yemfundo. Kusiza futhi abachwepheshe bezempilo ukulindela nokuvimbela izinhlanganisela ezingaba khona.

Inqubo yokuxilongwa ingase izizwe ikhathaza, kodwa khumbula ukuthi iqembu lakho lezempilo likhona ukukuqondisa kuzo zonke izinyathelo nokuphendula imibuzo yakho.

Ukwelashwa kwe-Prader-Willi Syndrome yini?

Ukwelashwa kwe-Prader-Willi syndrome kugxile ekulawuleni izimpawu nokuvimbela izinhlanganisela kulo lonke impilo yomuntu. Ayikho imithi, kodwa ukunakekelwa okubanzi kungathuthukisa kakhulu ikhwalithi yokuphila.

Ukwelashwa kwezokwelapha kuvame ukufaka:

• Ukwelashwa kwe-growth hormone ukuthuthukisa ubude, ubunzima bemisipha, nokuhlanganiswa komzimba
• Ukwelulekwa kokudla nokulawulwa kokudla okunqunyiwe
• Ukwelashwa komzimba ukuthuthukisa amandla emisipha namakhono omoya
• Ukwelashwa kokukhuluma ngezinselele zokukhuluma
• Ukungenelela kokuziphatha ngezinkinga zomzwelo nezenhlalo
• Ukwelashwa kwezinkinga zokulala nezinye izinkinga zezempilo

Iqembu lokunakekela ngokuvamile lihlanganisa ochwepheshe abaningi abasebenza ndawonye. Udokotela wakho oyinhloko uqondisa nochwepheshe bezokwelapha, ochwepheshe bokudla, ochwepheshe, nochwepheshe bokuphatha ukuze bakhe uhlelo oluphelele lokwelashwa.

Izinhlelo zokwelashwa ziqondene kakhulu ngoba izidingo zomuntu ngamunye zihlukile. Okusebenza kahle komuntu oyedwa kungase kudinge ukulungiswa komunye, futhi izidingo zishintsha njengoba abantu bekhula bethu.

Indlela yokuthatha ukwelashwa ekhaya ngesikhathi se-Prader-Willi Syndrome?

Ukulawula i-Prader-Willi syndrome ekhaya kudinga ukudala indawo ephephile, ehleliwe ehlangabezana nezinselele ezihlukile zalesi simo. Ukugxila kukukwakha imikhuba esekela impilo nokuthuthuka.

Ukulawula ukudla ngokuvamile kuyinselele enkulu yokunakekelwa ekhaya:

• Qinisekisa zonke izindawo zokudla ngamakhadi noma i-alarms
• Misa izikhathi zokudla eziqondile ngezigaba ezilawulwayo
• Gxilisa ukudla okunomsoco, okuhlala kuhlangabezana nendlala
• Hlanganisa umndeni ekucwaningeni nasekulungiseleleni ukudla
• Dala imisebenzi ehlukile ngezikhathi zokugxila ekudleni

Ukusekela impilo yonke nokuthuthuka kufaka:

• Ukukhuthaza umsebenzi womzimba oqondile ofanele amazinga okukwazi
• Ukugcina imikhuba yokulala eqondile
• Ukupha ukwesekwa komzwelo nokuqonda
• Ukudala isimo esiqondile nemikhuba eqikelelwe
• Ukugubha impumelelo nokuklama ukuzethemba

Khumbula ukuthi ukunakekelwa ekhaya kuyimisebenzi yeqembu. Amalungu omndeni, abaphathi, nabangane bonke badlala indima ebalulekile ekudaleni indawo yokusekela. Unganqikazi ukucela usizo lapho usikudinga.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho yodokotela?

Ukulungiselela i-aphoyintimenti yezokwelapha kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho nabachwepheshe bezempilo. Ukulungiselela okuhle kuholela ekuxhumaneni kangcono nasekunakekelweni okuphumelelayo.

Ngaphambi kwe-aphoyintimenti yakho, buza ulwazi olubalulekile:

• Bhala izimpawu noma ukukhathazeka okuqondile oye waqaphela
• Qaphela noma yiziphi izinguquko ekudleni, ukulala, noma izindlela zokuziphatha
• Bala imithi yamanje kanye nezinye izinto
• Lungiselela imibuzo mayelana nezinketho zokwelashwa noma ukulawulwa kwansuku zonke
• Letha amarekhodi ezempilo noma imiphumela yokuhlola efanele

Phakathi kwe-aphoyintimenti, unganqikazi ukubuza imibuzo mayelana nanoma yini ongayiqondi. Iqembu lakho lezempilo lifuna ukukusiza uzizwe ulwazi futhi uqiniseke ngohlelo lokunakekelwa.

Cabanga ukuletha ilungu lomndeni noma umngani ukukusiza ukukhumbula ulwazi olubalulekile oluxoxwe ngesikhathi sokuvakasha. Ukubhala amaphuzu kungaba usizo futhi ekuhlaziyeni kamuva.

Yini eyinhloko mayelana ne-Prader-Willi Syndrome?

I-Prader-Willi syndrome iyisimo esiyinkimbinkimbi se-genetic esidinga ukulawulwa okuphila konke, kodwa ngokunakekelwa okufanele nokwesekwa, abantu abanesimo esinjalo bangaphila impilo ezele ngokunethezeka. Ukuxilongwa kwasekuqaleni nokungenelela kwenza umehluko omkhulu emiphumeleni.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi awuwedwa kule ndlela. Kukhona ochwepheshe bezempilo, amaqembu okusekela, namithombo eklanywe ngokukhethekile ukusiza imindeni ethintekile yi-Prader-Willi syndrome.

Ngesikhathi lesi simo siletha izinselele ezihlukile, imindeni eminingi ithola amandla ekuxhumaneni nabanye abaqonda okuhlangenwe nakho kwabo. Gxila ekugubheni impumelelo, ukwakha amandla, nokuthatha izinto usuku ngalunye.

Imibuzo evamile ebuzwa mayelana ne-Prader-Willi Syndrome

M1: Ingabe abantu abane-Prader-Willi syndrome bangaphila ngokuzimela?

Abanye abantu abane-Prader-Willi syndrome bangaphila ngokuzimela ngokwesekwa, kanti abanye badinga ukunakekelwa okukhulu. Izinga lokuzimela lixhomeke emakhonweni omuntu, ubukhulu bezimpawu, namasiko okusekela atholakalayo. Abantu abaningi bayaphumelela ezimweni zokuphila ezinqunyiwe ngokwakheka okufanele nokusiza.

M2: Ingabe i-Prader-Willi syndrome izuzwa kubazali?

Ezimweni eziningi, i-Prader-Willi syndrome iyenzeka ngokungahleliwe futhi ayithathwa kubazali. Kodwa-ke, kwezinye izimo ezihilela amaphutha okubhala, kungase kube khona ingozi encane eyongeziwe yokukhulelwa kwesikhathi esizayo. Ukwelulekwa kwe-genetic kungakunikeza ulwazi oluqondene ngezingozi zokubuyela.

M3: Abantu abane-Prader-Willi syndrome ngokuvamile baphila isikhathi esingakanani?

Ngokunakekelwa okufanele kwezokwelapha nokulawulwa, abantu abaningi abane-Prader-Willi syndrome bangaba nokuphila okujwayelekile. Izici eziyinhloko ezithinta ubude bokuphila ukuphatha izinhlanganisela ezihlobene nokukhuluka kwesisindo nokugcina impilo yonke enhle ngokunakekelwa okubanzi.

M4: Ingabe ukwelashwa kwe-growth hormone kuzosiza ingane yami?

Ukwelashwa kwe-growth hormone kungaba usizo kakhulu kubantwana abaningi abane-Prader-Willi syndrome. Ngokuvamile kuthuthukisa ubude, kwandisa ubunzima bemisipha, kunciphisa amanoni omzimba, futhi kungasiza ngamandla kanye nokuthuthuka konke. Iqembu lakho lezempilo lingahlola ukuthi lokhu kwelashwa kufanele yini ingane yakho.

M5: Ingabe kukhona amaqembu okusekela imindeni ethintekile yi-Prader-Willi syndrome?

Yebo, kukhona amaqembu amaningi okusekela nezinhlelo ezinikwe ukukusiza imindeni ethintekile yi-Prader-Willi syndrome. La maqembu anikeza imithombo ebalulekile, ukwesekwa komzwelo, nezeluleko eziwusizo ezivela kwezinye imindeni eziqonda izinselele obhekene nazo. Iqembu lakho lezempilo lingakusiza ukuxhumana namanethiwekhi okusekela endaweni yakini nakwi-inthanethi.