Omwana wo omuto alina obubonero buno? Ka twogere ku bulwadde bwa Prader-Willi Syndrome

Oyinza okuba nga walina ebikweraliikiriza ku nkula y’omwana wo n’enkula ye, oba ku ngeri gy’alya n’okunywa. Abalongo abamu beetaaga okulabirira mu ngeri ey’enjawulo. Leero, tugenda kwogera ku mbeera etali ya bulijjo naye nga nkulu gy’osaanidde okumanya.

Obulwadde bwa Prader-Willi Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Prader-Willi Syndrome (PWS) mbeera ya buzaale etali ya bulijjo era ekosa enkyukakyuka y’omubiri gw’omwana. Kiyinza okuleeta enkyukakyuka mu nkula y’omwana n’enneeyisa ye.

Omwana omuto alina embeera eno aba n’ebinywa bitono nnyo (hypotonia). Kino kitegeeza nti omubiri guyinza okuwulira nga munafu nnyo. Kiyinza okuba ekizibu okuyonka n’okulya emmere mu kusooka. Kyokka, wakati w’emyaka ebiri n’omukaaga, okwagala okulya okutali kwa bulijjo, oba enjala buli kiseera (hyperphagia), etandika okukula. Singa emmere tefugibwa bulungi, okulya okuyitiridde kuno kuyinza okuvaako omwana okufuuka omunene ennyo, oba okugejja ennyo.

Okugatta ku ekyo, PWS esobola okuleetera omwana okusubwa enkulaakulana eya bulijjo n’okulwawo okutuuka mu myaka gy’obuvubuka. Tekitera kubaawo, ebizibu ebiyinza okutta omuntu, gamba ng’obuzibu mu kussa, obuzibu bw’emisuwa gy’omutima obuva ku mugejjo, okusannyalala mu tulo, ne ssukaali.

Ani asinga okukosebwa embeera eno?

Mu butuufu embeera eno eyitibwa Prader-Willi syndrome esobola okutuuka ku muntu yenna. Olw’okuba kya buzaale, kitera okubaawo mu ngeri ey’ekifuulannenge, ekitegeeza nti kibaawo awatali nsonga ng’obutoffaali bw’obuwuka butondeddwa. Tekitera kubaawo nnyo, kiyinza okusikira singa omuntu mu maka abadde n’embeera eno emabegako.

Obulwadde bwa Prader-Willi Syndrome butera kwenkana wa?

Eno mbeera ya bbula nnyo. Bw’otunuulira ensi yonna, kiba nga omu ku balongo 10,000 okutuuka ku omu ku baana 30,000. Kale, oyinza okulowooza ku ngeri kino gye kitatera kubaawo.

Bubonero ki obulaga obulwadde bwa Prader-Willi Syndrome?

Engeri PWS gy’ekwata ku buli muntu eyinza okwawukana, naye waliwo obubonero obumu obutera okulabika.

Obubonero obulabibwa mu buwere:

Obumu ku bubonero buno buyinza okulabibwa amangu ddala ng’omwana azaaliddwa:

• Okukaaba okunafu .
• Okukoowa buli kiseera n’okukoowa.
• Okukaluubirirwa okuyonka n’okulya (Obusobozi bw’okuliisa obubi).
• Omubiri omugonvu , oba obutaba na binywa (`hypotonia`). Kiyinza okuwulira ng’omubiri gwo gugwa nga ddole.

Engeri z’omubiri ezirabika ng’omwana akula:

Engeri zino oluusi zibeerawo ng’omwana azaalibwa, naye zeeyongera okweyoleka ng’omwana akula:

• Amaaso agafaanana ng’amanda .
• Omutwe omuwanvu era omufunda.
• Akamwa akaliko enjuyi essatu.
• Okubeera omumpi katono okusinga abaana abalala (obuwanvu obumpi).
• Emikono n’ebigere ebitonotono.
• Ebitundu by’ekyama ebitali bikula.

Engeri ezikosa enkula y’omwana n’enneeyisa ye:

Zino ze mpisa abazadde oluusi ze basinga okuwulira, era ziyinza okusoomoozebwa okutono:

• Temper tantrums , okubutuka mu nneewulira oba obukakanyavu.
• Obulemu ku magezi: Kino kitegeeza nti kitwala akaseera okuyiga n’okutegeera ebintu ebipya.
• Enneeyisa ezisikiriza oba eziwalirizibwa nga okulonda olususu .
• Obuzibu mu tulo. Oluusi okuwulira otulo otungi emisana, ate ekiro, owulira nga tosobola kwebaka.
• Obuzibu mu kulya. Kano ke kabonero akasinga okulabika. Ne bw’olya otya, towulira ng’ojjudde. Kino kivaako okulya ennyo (hyperphagia).

Teebereza engeri gye kyandibadde ekizibu singa omwana wo ne bw'alya atya, asigala ng'agamba nti, "Njagala ebisingawo, enjala ennuma." Okulya ennyo kuno kuyinza okuvaako omugejjo ogw’ekika kya III, ekiyinza okwongera ku bulabe bw’okufuna ebizibu ebirala, gamba nga ssukaali n’endwadde z’omutima.

Kiki ekivaako kino? Lwaki kino kigenda mu maaso?

Obulwadde bwa Prader-Willi syndrome buva ku nkyukakyuka mu buzaale bwaffe. Okusingira ddala, obuzaale obumu ku chromosome 15 mu mubiri gwaffe tebukola bulungi.

Ffenna tufuna kkopi emu eya chromosome 15 okuva eri maama waffe nga tufunye olubuto, ate kkopi emu okuva eri kitaffe. Mu budde obwabulijjo, obuzaale obuli ku kkopi ya chromosome 15 okuva eri kitaffe bukola, kwe kugamba, "ku." Ensengekera z'obuzaale eziri ku kkopi ya chromosome 15 okuva ku maama waffe "zizikiddwa," kwe kugamba, zisirise. Kino tukiyita `okuwandiika ensengekera y'obutonde (genomic imprinting.' Kyokka, kkopi zombi zeetaagibwa obuzaale mu mubiri gwaffe okusobola okukola obulungi.

Kati, embeera `PWS` eyinza okuva ku nkyukakyuka eziwerako mu chromosome eno 15:

• Chromosomal deletion : Mu balwadde ba PWS nga 70%, ekitundu ku chromosomes 15 ezisikira okuva ku taata kibula mu buli katoffaali. Kale, obubonero bubaawo kubanga obuzaale obuva ku taata tebukola bulungi ate obuzaale obuva ku maama busirise.
• Maternal uniparental disomy: Ebiseera nga 25%, omwana asikira kkopi bbiri eza chromosome 15 okuva ku nnyina ate nga tewali n’emu okuva ku kitaawe. Mu mbeera eno, kkopi zombi eza chromosome 15 zisirika, n’olwekyo obuzaale tebukola bulungi.
• Okukyusakyusa: Mu mbeera ezitakka wansi wa 1%, ekitundu kya chromosome 15 kikutuka ne kyekwata ku chromosome endala. Olwo, obuzaale tebuba we bulina okuba, kale tebukola mulimu gwe buteekeddwa okukola.

Mu ngeri ennyangu, chromosome eno 15 y’ewa ebiragiro okukola ebintu ebiyitibwa `small nucleolar RNAs (snoRNAs)` ebiyamba obutoffaali bwaffe okukola ebintu eby’enjawulo. `snoRNAs` zino zifuga molekyu endala eza `RNA`. Molekyulu za `RNA` zikola puloteyina, era puloteyini ezo zikola omulimu munene mu butoffaali. Kale, bwe wabaawo obuzibu ku chromosome 15, enkola eno yonna egenda bubi.

Abasawo kino bakizuula batya? (Okuzuula obulwadde)

Omusawo azuula obulwadde bwa Prader-Willi syndrome ng’akebera omwana n’obwegendereza n’okukebera obuzaale. Omusawo ajja kutunuulira engeri omwana gy’alimu n’akubuuza ebibuuzo ebikwata ku bubonero bw’omwana wo, engeri gy’alyamu n’enneeyisa ye.

Singa wabaawo okuteebereza kwonna ku PWS, kujja kulagirwa okukeberebwa obuzaale . Kino kitera kuba kya kukebera musaayi. Kino kisobola okuzuula obulungi oba waliwo ebitali bya bulijjo mu DNA y’omwana, kwe kugamba, enkyukakyuka mu buzaale.

Bujjanjabi ki obukolebwa ku kino?

Nga bajjanjaba obulwadde bwa Prader-Willi syndrome, essira lisinga kulissa ku kufuga bubonero n’okuziyiza ebizibu. Tewali bujjanjabi bumu ku kino, naye obujjanjabi obw’omugatte bukozesebwa.

Enkola z’obujjanjabi:

• Ku balongo abato, osobola okukozesa ebyuma eby’enjawulo ng’enfuli ez’enjawulo ez’omu ccupa okubayamba okunywa amata . Olw’okuba zizibuwalira okuyonka, zeetaaga okufuna emmere gye zeetaaga.
• Ekisinga obukulu kwe kuyamba omwana wo okulya obulungi . Kino kitegeeza okubaliisa emmere erimu kalori entono n’okufuga obungi bwe balya. Kino kiyinza okukusoomooza katono, kubanga omwana wo ajja kutera okuwulira enjala.
• Eddagala liweebwa okwongera ku busimu obumu . Okugeza, obusimu obuyamba okukula. Ku balenzi, eddagala lya testosterone oba human chorionic gonadotropin (HCG) liyinza okuweebwa, ate ku bawala, estrogen.
• Enzijanjaba eziwagira kikulu nnyo. Obujjanjabi bw’omubiri buyamba okunyweza ebinywa, obujjanjabi bw’okwogera n’olulimi buyamba okutumbula okwogera, ate okusomesebwa okw’enjawulo kuyamba okutumbula obusobozi bw’omwana okuyiga.

Biki ebiva mu bulwadde bwa Prader-Willi Syndrome?

Ebiseera ebisinga, abaana abalina embeera eno bagejja olw’okulya ennyo. Omugejjo guno guyinza okuvaako ebizibu ebirala:

• Ebizibu by’omutima.
• Ssukaali (Ssukaali ow’ekika eky’okubiri).
• Puleesa (Peesa).
• Obuzibu mu kussa.
• Obulwadde bw’okusannyalala mu tulo.

Wadde ng’omugejjo mbeera nzibu, esobola okuddukanyizibwa. Omusawo w’omwana wo ajja kusobola okukuwa obulagirizi obulungi ku nsonga eno.

Kino tusobola okukiziyiza?

Ebyembi, obulwadde bwa Prader-Willi tebusobola kuziyizibwa . Kiba kya buzaale. Ebiseera ebisinga, kiva ku nkyukakyuka mu buzaale mu ngeri ey’ekifuulannenge. Tekitegeerekeka. Tebuva ku kintu kyonna abazadde kye baakola nga tebannafuna lubuto oba nga bali lubuto.

Bw’oba ​​oteekateeka okuzaala omwana omulala, oba bw’oba ​​oyagala okumanya ebisingawo ku nsonga eno, kiba kirungi okufuna okubudaabudibwa ku buzaale. Olwo, osobola okwogera ku kabi akali mu kuzaala omwana alina embeera eno ey’obuzaale.

Kiki kye nsuubira singa omwana wange alina obulwadde bwa Prader-Willi Syndrome?

Kino kiyinza okukuleetera okuwulira ennaku ennyo n’okukukuba encukwe. Ekyo kya bulijjo. Naye, nga bajjanjabwa bulungi okuva ku ntandikwa era nga bagenda mu maaso n’okulabirira obulungi , abaana abasinga obungi abalina obulwadde bwa Prader-Willi basobola okubeera n’obulamu obwa bulijjo.

Kya bulijjo okwetaaga obuyambi obw’enjawulo ku mirimu gy’essomero. Abaana bonna abalina PWS bajja kwetaaga obuyambi mu bulamu bwabwe bwonna okusobola okubeera nga beetongodde nga bwe kisoboka. Omusawo ayinza okukusindika ew’omukugu mu by’endya. Ziyinza okukuyamba okuddukanya emmere y’omwana wo n’okukola enteekateeka y’emmere. Era kiyamba abazadde n‟amaka okulaba omukugu mu kubudaabuda abantu ku bulamu bw‟obwongo oba okwegatta ku kibiina ekiyamba amaka agalina abaana abalina embeera eno. Kino kiyinza okukuyamba okuyiga engeri empya ez’okugumira embeera n’okulabirira omwana wo.

Waliwo eddagala erijjuvu eriwonya kino?

Nedda, mu kiseera kino tewali ddagala lyonna eriwonya obulwadde bwa Prader-Willi syndrome. Wabula okunoonyereza kugenda mu maaso okwongera okutegeera embeera eno.

Nsaana okulaba omusawo ku ssaawa mmeka?

Bw’oba ​​olowooza nti omwana wo alina obubonero bw’obulwadde bwa Prader-Willi syndrome, laba omusawo w’omwana wo amangu ago . Tobuusa maaso kulwawo kwonna mu nkula (missed developmental milestones) mu buwere. Singa embeera eno ezuulibwa nga bukyali, omusawo asobola okuyamba okuddukanya embeera y’omwana wo, okumuyamba okutuuka ku nkulaakulana, n’okukendeeza ku bizibu ng’afuga emmere ye.

Bibuuzo ki bye nnina okubuuza omusawo?

Bw’ogenda okulaba omusawo, kiba kirungi n’obuuza ebibuuzo nga bino:

• Nnyinza ntya okuyamba okukuuma omwana wange obutagejja?
• Obujjanjabi bw’omwana wange bujja kubaamu ki?
• Bizibu ki omwana wange by’ayinza okuba nabyo mu nneeyisa?
• Waliwo ebibiina ebiwagira ebiyinza okutuyamba okuyiga n‟okugumira PWS?
• Kirungi okukeberebwa obuzaale bw’ab’omu maka gange abalala?

Kya bulijjo okuwulira ng’ozitoowereddwa ng’okitegedde nti omwana wo alina embeera y’obuzaale etali ya bulijjo era etawona. Wabula ttiimu y’abasawo y’omwana wo ejja kukuwa obuwagizi n’obulagirizi bwe weetaaga. Omwana wo ayinza okutwala ekiseera ekiwanvu okutuuka ku bintu ebikulu mu nkulaakulana okusinga abaana abalala ab’emyaka gyabwe. Era bajja kwetaaga obujjanjabi obuyamba obulamu bwabwe bwonna okuziyiza ebizibu. Bw’oba ​​olina ekibuuzo kyonna ku ngeri omwana wo gy’azuddemu oba engeri gy’oyinza okulabirira obulungi omwana wo, tolwawo kwogera n’omusawo w’omwana wo.

Ebintu ebikulu bye twetaaga okujjukira (Take-Home Message) .

Okay, kale ka tuddemu okukubaganya ebirowoozo ku bimu ku bintu ebikulu bye twogeddeko leero ku Prader-Willi Syndrome:

• Eno mbeera ya buzaale etatera kulabika nnyo, ekitegeeza nti teva ku nsobi ya bazadde.
• Obubonero obumu busobola okulabibwa ne mu baana abawere , gamba ng’okukoowa n’okukaluubirirwa okuyonsa.
• Enjala buli kiseera n’okulya ennyo bwe bubonero obukulu obulaga embeera eno, ekiyinza okuvaako omugejjo.
• Kino kiyinza okukosa enkula y’omwana, enneeyisa ye, n’okuyiga kwe.
• Wadde nga tewali ddagala, waliwo obujjanjabi obuyinza okuyamba okufuga obubonero n’okubeera n’obulamu obulungi. Kikulu nnyo okutegeera obulwadde buno nga bukyali n’okutandika okubujjanjaba.
• Obuwagizi eri abazadde n’amaka kikulu nnyo. Osobola okufuna obuyambi okuva mu basawo, abakugu mu by’endya, abajjanjabi, n’ebibiina ebiwagira.

Nsuubira nti amawulire gano gakuyamba. Bw’oba ​​olina ekikweraliikiriza ku mwana wo, tolwawo kunoonya magezi ga musawo.

` Prader-Willi syndrome, PWS, endwadde z’obuzaale, obulamu bw’abaana, omugejjo, endya, okulwawo okukula