Omwana wo alina obubonero buno? Ka twogere ku Ataxia-Telangiectasia (AT)!

Omwana wo omuto yeesittala nnyo okusinga abaana abalala ng’atambula, oba kirabika alina obuzibu okukuuma bbalansi ye? Oluusi alina obutundutundu obutono obw’enjuki obumyufu ku bizungu by’amaaso ge oba ku matama ge? Bino bintu bitonotono oluusi bye tubuusa amaaso, naye biyinza okuba obubonero obusooka obw’embeera y’obuzaale etali ya bulijjo eyitibwa `Ataxia-Telangiectasia (AT). Kale, wadde nga guno mulamwa muzibu katono, ka twogere ku nsonga eno mu ngeri ennyangu gy’osobola okutegeera.

Kiki ddala ekiyitibwa `Ataxia-Telangiectasia (AT)`?

Mu ngeri ennyangu, `Ataxia-Telangiectasia (AT),` era emanyiddwa abamu nga `Louis-Bar Syndrome,` mbeera ya buzaale etali ya bulijjo nnyo okusinga ekosa enkola yaffe ey'obusimu, omukutu gw'obusimu obutambuza obubaka okuva mu bwongo, omugongo, ne mu mubiri gwonna, n'abaserikale b'omubiri, abakuuma omubiri gwaffe okuva ku bulwadde.

Eno mbeera ya `(neurodegenerative)`. Kwe kugamba, ekiseera bwe kigenda kiyitawo, obutoffaali obuli mu busimu bwaffe bunafuwa mpolampola, era emirimu gyabwo gikendeera. Kilowoozeeko ng’ekyuma ekyali kikola obulungi kigenda kikaddiwa mpolampola, ebitundu ne bikaddiwa ne bikoma okukola. Obutoffaali buno obw’obusimu bwe bunafuwa, embeera eyitibwa `(ataxia)` ebaawo, omubiri mwe gufiirwa bbalansi ku myaka emito era entambula ne zifuuka ezitali za bulijjo. Eno y'ensonga lwaki "ataxia" eyitibwa bwetyo.

Akabonero akalala akakulu ye telangiectasia. Kino we wabaawo obusuwa obutono obumyufu obulinga obuwuzi bwe bulabika ku byeru by’amaaso, n’oluusi ku matama n’amatu. Bino ebiseera ebisinga tebiruma, naye nga kabonero akalaga obulwadde buno.

Ani ayinza okufuna embeera eno?

`Ataxia-Telangiectasia (AT)` ereetebwa enkyukakyuka mu buzaale, kwe kugamba, `enkyukakyuka mu buzaale` . Kino omuntu yenna asobola okukisikira. Naye omanya otya? Obulwadde buno bubaawo singa omwana afuna kkopi ekyusiddwa ey’obuzaale buno obwa `ATM` okuva ku maama ne taata. Mu busawo, kino tukiyita `(autosomal recessive)` obusika.

Teebereza nti abazadde bombi balina kkopi emu yokka ey’obuzaale buno obukyusiddwa. Olwo tezijja kulaga bubonero, kubanga kkopi bbiri ez’obuzaale obukyusiddwa zeetaagibwa okusobola okukulaakulanya obulwadde buno. Naye bajja kuba "batwala" obuzaale buno. Kale, omwana okuva mu bazadde babiri abasitula abaana alina obusobozi okufuna kkopi zombi ez’obuzaale buno obukyusiddwa. Ekyo bwe kibaawo, omwana ajja kuba n'embeera ya `AT`. Okusinziira ku bibalo mu Amerika, abantu nga 1% mu nsi eyo be basitula kkopi eno ekyusiddwa ey’obuzaale bwa `ATM`.

`Obulwadde bwa Ataxia-Telangiectasia (AT)` butera kwenkana wa?

Buno bulwadde bwa bbula nnyo . Mu nsi yonna, kiteeberezebwa nti omuntu omu ku buli bantu 40,000 ku 100,000 alina obulwadde buno. Kino kitegeeza nti ne mu Sri Lanka tekitera kubaawo nnyo.

Obulwadde buno bukosa butya omubiri gw'omwana?

Obulwadde bwa Ataxia-Telangiectasia (AT) bulwadde obugenda bweyongera mpolampola.Kwe kugamba, obubonero bweyongera okumala ekiseera. Omwana alina `AT` atera okutandika okulaga obubonero ku myaka nga 5.

Obubonero obusooka okulabika bwe buzibu mu ntambula.

• Bwe ntambula mpulira ng'amagulu gange gatabuddwa ne nfiirwa bbalansi .
• Ebitundu by’omubiri bikankana mu ngeri etaali ya butonde.
• Ebinywa bimala kunyiganyiga.
• Bwe njogera , ebigambo byange bitabulatabula, era mpulira nga nfunye obuzibu okwogera .

Omwana wo bw’agenda akaddiwa n’ayingira mu myaka gy’obutiini, ayinza okwetaaga ekintu ekiyamba okutambula, gamba ng’obugaali, okusobola okutambula. Nkitegedde nti kino kiyinza okuba ekizibu abazadde okukikwata, naye kikulu okumanya embeera eno.

Bubonero ki obwa `Ataxia-Telangiectasia (AT)`?

Nga bwe twayogeddeko emabegako, waliwo obubonero bubiri obukulu obulaga obulwadde buno:

1. Okukaluubirirwa okukwasaganya entambula (ataxia) : Okukaluubirirwa okutambula, okubulwa bbalansi n’ebirala.

2. Emisuwa emitono emimyufu egirabika mu maaso n’olususu (telangiectasia) : Bino bitera okulabibwa mu bitundu ebizungu eby’amaaso, amatama, n’amatu.

Ng’oggyeeko kino, obubonero obulala obuwerako obukwata ku ntambula busobola okulabibwa mu mbeera ya `AT`:

• Okukaluubirirwa okutambula (buno bwe bumu ku bubonero obukulu obusooka okulabibwa).
• Obutasobola kutambuza maaso okuva ku ludda olumu okudda ku lulala ``oculomotor apraxia`` oba okutambula kw'amaaso okutali kwa bulijjo ``nystagmus``.
• Entambula ezitali za kyeyagalire, eziwuuma (chorea).
• Okukankana kw’ebinywa (myoclonus).
• Okufiirwa emirimu gy’obusimu mpolampola (neuropathy).
• Okwogera okutali kwa maanyi : Abaana bangi bafuna obuzibu okwatula obulungi ebigambo n’okukozesa essira erituufu mu kwogera kwabwe. N'ekyavaamu, okwogera kwabwe tekuwulikika ng'okwogera "okwa bulijjo".
• Ebizibu bya bbalansi .
• Okulwawo okukula oba enkola y’omubiri obutakola bulungi: Embeera eno esobola okusajjuka olw’okukwatibwa yinfekisoni enfunda eziwera n’enkyukakyuka mu busimu bw’okukula.

Ataxia-Telangiectasia (AT) bulwadde obunafuya abaserikale b’omubiri gw’omuntu . Obunafu buno bweyongera okumala ekiseera. Obubonero bw’abaserikale b’omubiri okunafuwa mulimu:

• Okutera okubeerawo kw’obulwadde bw’amawuggwe obutawona.
• Okuwulira ng’okooye buli kiseera (obukoowu).
• Okulwala amangu okusinga abalala.
• Okukwatibwa yinfekisoni enfunda eziwera n’okuwona mpola ebiwundu.
• Okwongera ku bulabe bw’okufuna kookolo nga `Leukemia` (kookolo w’omusaayi) oba `Lymphoma` (kookolo w’ennywanto).
• Okuwulikika ennyo ku kukwatibwa emisinde (e.g. X-rays).

Akabonero akalala kwe kweyongera kw’omutindo gwa puloteyina eyitibwa `alpha-fetoprotein (AFP)` mu musaayi. Ekituufu ekivuddeko okweyongera kuno mu miwendo gya `AFP` tekimanyiddwa.

Kiki ekivaako `Obulwadde bwa `Ataxia-Telangiectasia (AT)`?

Obulwadde buno buva ku nkyukakyuka mu buzaale obuyitibwa ``ATM''.

Kati ka tulabe obuzaale buno ne chromosomes kye biri mu ngeri ennyangu. Teebereza nti waliwo ekitabo ekinene ekirimu ebiragiro byonna omubiri gwaffe okukula. Ekitabo ekyo kiyitibwa `DNA`. Essuula z'ekitabo kino ekya `DNA` ziyitibwa `genes`. `DNA` eno eterekebwa munda mu bintu ebiyitibwa `chromosomes`. Mu budde obwabulijjo, omuntu alina ensengekera z’obutonde (chromosomes) 46, nga zino zisengekeddwa mu bibiri 23. Ekimu tukifuna okuva eri maama waffe ate ekirala okuva ku kitaffe okukola ebibiri bino eby’ensengekera y’obutonde (chromosome pairs).

Obutoffaali obuli mu bitundu by’okuzaala bwe butondebwa, obutoffaali buno bweyawukana ne bukola kkopi. Oluusi, okufaananako ekyuma ekikuba ebitabo bwe kiziba olupapula, obutoffaali buno busobola okukola ensobi mu buzaale bwabwo, eziyitibwa enkyukakyuka. Kopi ezimu ez’ebiragiro zikolebwa nga bwe ziri, ate ezimu zikolebwa mu bukyamu.

Nga bwe twagambye emabegako, obuzaale buno obukyusiddwa busikira mu nkola ya ``autosomal recessive``. Kino kitegeeza nti maama ne taata bombi basitula obuzaale buno obukyusiddwa ``ATM``, era omwana ajja kufuna obulwadde singa bombi basikira obuzaale obukyusiddwa. Singa eva ku muzadde omu yekka, omwana ajja kuba musitula yekka era tajja kulaga bubonero.

Ensengekera eno eya `ATM` kikulu nnyo. Kubanga ekola obutoffaali obubuulira omubiri engeri y'okuddaabiriza `DNA` yaffe nga eyonoonese. Puloteeni za `ATM` ziringa bambega. Be bazuula obutoffaali obwonooneddwa n'obutundutundu bwa `DNA` ne baleeta `(enzymes)` ezeetaagisa okubiddaabiriza. Olw`enkola eno ey`okuddaabiriza `DNA`, empapula z`ekitabo ky`omubiri gwaffe zikyuka bulungi.

Era, puloteyina ya `ATM` egamba obusimu bwaffe n'abaserikale b'omubiri nti, "Olina okukola obulungi." Kale, bwe wabaawo enkyukakyuka mu ggiini ya `ATM`, omulimu gwa puloteyina ya `ATM` gukendeera okumala ekiseera. Ekyo kitegeeza nti obutoffaali bufiirwa ebitundu by’ekitabo kyabwo eky’ebiragiro, era tebusobola kukola bulungi. Eyo y'ensonga enkulu evuddeko obubonero bwa `Ataxia-Telangiectasia (AT)`. Okukifuna?

Obulwadde bwa `Ataxia-Telangiectasia (AT)` buzuulibwa butya?

Omusawo ajja kutandika n’okukebera obubonero bwo n’okukeberebwa ebifaananyi n’okukebera omusaayi okuzuula enkyukakyuka mu buzaale ekuleetera obubonero. Omusawo wo era ajja kwetegereza mu bujjuvu obulamu bw’omwana wo n’ebyafaayo by’obujjanjabi bw’amaka okusobola okuzuula obulwadde. Bw’oba ​​oteebereza nti olina AT, kikulu okulaba omusawo akola ku by’obusimu obuziyiza endwadde okwekenneenya mu bujjuvu.

Bikebere ki ebikozesebwa okuzuula `Ataxia-Telangiectasia (AT)`?

Waliwo okukebera okuwerako okuyinza okuyamba okuzuula obulwadde buno:

• Okukebera obuzaale : Kino kwekebejja musaayi okusobola okuzuula enkyukakyuka y’obuzaale entongole ekuleetera obubonero.
• Magnetic Resonance Imaging (MRI) : Sikaani ya MRI ekwata ebifaananyi by’obwongo n’enoonya obubonero bw’obutoffaali bw’obusimu oba obutoffaali bw’obwongo okunafuwa (cerebellar atrophy). Kano kabonero akalaga nti obulwadde bwa ataxia bweyongera okusajjuka.
• Karyotyping : Kino nakyo kikebera musaayi. Ekebera ensengekera z’obutonde (chromosomes) okuzuula embeera z’obuzaale.
• Okukebera omusaayi : Okukebera omusaayi kukolebwa okukebera oba alpha-fetoprotein (AFP) eri waggulu.

Mu nsi nnyingi, okukebera abalongo kukozesebwa okuzuula embeera ya Ataxia-Telangiectasia (AT). Bwe kitaba ekyo, abasawo batera okuzuula embeera eno nga bakyali bato.

Bujjanjabi ki obw'obulwadde bwa `Ataxia-Telangiectasia (AT)`?

Obujjanjabi bwa `Ataxia-Telangiectasia (AT)` kwe kufuga obubonero bwokka . Tewali ddagala liwonya bulwadde buno n'okutuusa kati . Enkola z’obujjanjabi zibeera za muntu kinnoomu, ekitegeeza nti ziyinza okwawukana okusinziira ku mwana. Ziyinza okuli:

• Okufuga telangiectasia, nga guno gwe mutimbagano gw’emisuwa egirabika ku lususu , weewale okubeera omusana omungi .
• Singa kookolo akula , eddagala eriweweeza ku bulwadde bukozesebwa.
• Obujjanjabi bw’omubiri okunyweza ebinywa.
• Okufuna empiso za gammaglobulin ku yinfekisoni z’okussa.
• Okufuna obujjanjabi bwa immunoglobulin okuwagira abaserikale b’omubiri abanafuye.
• Okumira eddagala eritta obuwuka okujjanjaba yinfekisoni.
• Okumira eddagala nga Diazepam okufuga obuzibu mu kwogera n’okutambula kw’ebinywa mu ngeri etaali ya kyeyagalire.

Nsobola okukendeeza ku bulabe bw’omwana wange okufuna obulwadde bwa `Ataxia-Telangiectasia (AT)`?

Olw’okuba `Ataxia-Telangiectasia (AT)` kiva ku nkyukakyuka mu buzaale, tewali ngeri yonna gye tuyinza kugiziyiza kubaawo . Kyokka okutwaliza awamu waliwo ebintu by’oyinza okukola okukendeeza ku bulabe bw’okuzaala omwana alina obuzibu mu buzaale, gamba ng’okwewala okunywa sigala n’okwewala okukozesa eddagala. Bw’oba ​​oteekateeka okufuna olubuto, kirungi okwogera n’omusawo wo ku kubudaabudibwa ku buzaale okutegeera akabi k’olina okuzaala omwana alina obuzibu bw’obuzaale nga `Ataxia-Telangiectasia (AT)`.

Kiki kye nsuubira singa mba nnina omwana alina `AT`?

Obulwadde bwa Ataxia-Telangiectasia (AT) bulwadde obweyongera okusajjuka oluvannyuma lw’ekiseera. Obubonero obutono obukosa entambula y’omwana wo butandika mu buto, wamu n’emikutu gy’emisuwa egirabika mu lususu. Omwana bw’agenda akula, obutoffaali bwe bufiirwa obusobozi bwabwo okukola okusinziira ku kitabo ky’ebiragiro. Kino kitegeeza nti obubonero bw’omwana bweyongera okuba obw’amaanyi, era emirundi mingi ayinza okwetaaga okukozesa obugaali bw’atuuka mu myaka egy’obukulu.

Obubonero obumu obw’embeera eno kwe kunafuwa kw’abaserikale b’omubiri, n’olwekyo n’obulwadde obutono busobola okukosa ennyo obulamu bw’omwana.

Abaserikale b’omubiri abanafu era bongera ku bulabe bw’okufuna kookolo nga leukemia oba lymphoma. Wabula waliwo obujjanjabi okulongoosa enkola y’abaserikale b’omubiri, ekiyinza okuyamba okukuuma omwana wo nga mulamu bulungi.

Obulamu obusuubirwa mu AT bwawukana okusinziira ku buzibu bw’obubonero. Wabula abantu abasinga obungi abalina obulwadde buno babeera mu myaka emito (emyaka nga 30, wakati wa myaka 25). Okujjanjaba amangu yinfekisoni eza bulijjo n’okukebera kookolo mu ngeri y’okuziyiza kookolo kiyinza okuyamba okwongera ku bulamu bw’omuntu.

Waliwo eddagala eriwonya `Ataxia-Telangiectasia (AT)`?

Nedda, tewali ddagala lya `Ataxia-Telangiectasia (AT)` n'okutuusa kati . Obujjanjabi bugenderera okumalawo obubonero, okwanguyiza buli muntu alina obulwadde buno, n’okuyamba okwongera ku bulamu bwe.

Nlabirira ntya omwana wange ne `AT`?

Bw’okizuula nti omwana wo alina `Ataxia-Telangiectasia (AT),` kiyinza okuba ekizibu okutegeera obutonde bw’embeera eno mu bujjuvu n’okumanya obulungi engeri y’okuyambamu omwana wo. Omusawo w’omwana wo ajja kukuwa enteekateeka y’obujjanjabi ng’etuukana n’obubonero bwe, era ajja kubaawo okuddamu ebibuuzo byonna by’oyinza okuba nabyo.

Omusawo wo era ayinza okukuwa amagezi okusisinkana omukugu mu kubuulirira ku by'obuzaale . Ababuulirira ku buzaale bakugu mu by’obuzaale. Bayinza okuyamba ab’omu maka go okumanya ebisingawo ku bulwadde bwa Ataxia-Telangiectasia (AT) n’okuyamba omwana wo okubeera n’obulamu obweyagaza, obumativu. Era zisobola okukuyamba okugumira situleesi gy’oyinza okuba ng’oyolekagana n’omwana wo ng’azuuliddwa.

Ddi lwe nnina okulaba omusawo?

Olw’okuba obulwadde bwa Ataxia-Telangiectasia (AT) bukosa abaserikale b’omubiri, singa omwana wo alaga obubonero bw’obulwadde , olina okulaba omusawo amangu ddala okufuna obujjanjabi. Obubonero obulaga nti omuntu alina obulwadde buyinza okuli:

• Okukyusa langi y’olususu mu kifo ekirimu obuwuka.
• Okuwunya.
• Okukolola.
• Omusujja.
• Okuwulira obulumi oba obuvune mu kitundu ekimu eky’omubiri oba omubiri gwonna.
• Okuzimba awalala mu mubiri.
• Okussa obubi.
• Okusesema oba ekiddukano.

Bibuuzo ki bye nnina okubuuza omusawo wange?

• Nsaana okulaba omusawo w’omubiri asobole okutumbula amaanyi g’ebinywa by’omwana wange?
• Waliwo ebizibu byonna ebiva mu bujjanjabi obwalagirwa ku bubonero bw’omwana wange?
• Bwemba nga ndi mutambuza w’obuzaale obukyusiddwa, ndi mu bulabe bw’okuzaala omwana alina `Ataxia-Telangiectasia (AT)`?

Okutegeera omwana wo bw’azuuliddwamu obulwadde bwa `Ataxia-Telangiectasia (AT)` kiyinza okuba ekizibu ennyo era ekikuleetera okunyigirizibwa ng’omulabirira. Kyokka omusawo ajja kukuwa enteekateeka ennungi ey’obujjanjabi ng’etuukana n’obubonero bw’omwana wo. Ekisinga obukulu kwe kuwa omwana wo omukwano n’obuwagizi bwe yeetaaga mu bulamu bwe bwonna. Ekirala, beera mwegendereza obubonero bwonna obupya obulabika, bujjanjabe mangu, era fuba okuwangaaza obulamu bw’omwana wo nga bwe kisoboka.

## Ebintu ebikulu by'olina okujjukira (Take-Home Message)

Ataxia-Telangiectasia (AT) bulwadde bwa buzaale obutatera kulabika era buyinza okukosa ennyo omwana n’ab’omu maka ge. Kya bulijjo okuwulira ng’otya n’okweraliikirira ng’oyiga ku nsonga eyo.

• Kikulu okutegeera obubonero nga bukyali : Noonya omusawo amagezi singa olaba enkyukakyuka mu ngeri omwana wo gy’atambulamu, bbalansi, okukaluubirirwa okwogera, oba ebifo ebimyufu ebyewuunyisa ku lususu/amaaso.
• Newankubadde nga tewali ddagala lya kino, obubonero busobola okuddukanyizibwa : obujjanjabi obutuufu n‟obuyambi busobola okuyamba okutumbula omutindo gw‟obulamu bw‟omwana n‟okwongera ku bulamu bwe.
• Faayo ku busimu bwo obuziyiza endwadde : Abaana abalina `AT` bali mu bulabe bwa maanyi okufuna yinfekisoni. Kale beera mwegendereza obubonero obulaga nti omuntu alina obulwadde era noonya obujjanjabi mu bwangu.
• Si ggwe wekka : Ggwe n’omwana wo musobola okufuna obuyambi bwe mwetaaga okuva mu basawo, ababuulirira ku buzaale, n’ebibiina ebiyamba.
• Okwagala n'obuwagizi bye bintu ebisinga obukulu : Okwagala kwo, obugumiikiriza, n'obuwagizi bye bintu ebisinga okuba eby'omuwendo eri omwana wo mu lugendo luno.

Nsuubira nti amawulire gano gakuyambye okufuna okutegeera okutono ku mbeera eno enzibu. Bw’oba ​​olina ekibuuzo ekirala kyonna, tolwawo kwogera na musawo.

` Ataxia-telangiectasia, AT, Louis-Bar syndrome, endwadde z’obuzaale, obusimu, abaserikale b’omubiri, obuzibu mu ntambula, endwadde ezitatera kulabika, endwadde z’abaana