Tumanye obulwadde bwa Krabbe Disease, obulwadde bw’obusimu obutatera kulabika mu baana

Kizibu okussa mu bigambo ennaku n’okweraliikirira maama oba taata by’awulira ng’omwana we omuto alwadde, si bwe kiri? Naddala bwe kiba embeera etali ya bulijjo era eringa enzibu, omugugu guba gusingako awo. Leero tugenda kwogera ku mbeera emu bwetyo etali ya bulijjo naye nga nkulu. Kino kiyitibwa Obulwadde bwa Krabbe. Abantu abamu era bakiyita Globoid Cell Leukodystrophy. Wadde erinnya lino liyinza okulabika ng’ery’ewala katono, ka tulikuume nga lyangu.

Obulwadde bwa Krabbe kye ki?

Mu ngeri ennyangu, obulwadde bwa Krabbe buzibu bwa buzaale obutatera kulabika era bukosa enkola y’obusimu. Kiyitibwa "kra-bah."

Obulwadde buno bubeera mu kibinja ky’endwadde eziyitibwa Leukodystrophies. Mu ndwadde zino , ekibikka ekikuuma ekiyitibwa Myelin mu busimu bwaffe kibula (kino kiyitibwa Demyelination). Lowooza ku butoffaali bw’obusimu mu mubiri gwaffe nga waya z’amasannyalaze. Waliwo ekibikka eky’obukuumi okwetooloola waya zino, ng’ekikuta ky’akaveera waggulu ku waya. Ekyo kye bayita Myelin. Ekikuta kino ekya myelin kye kisobozesa obubaka bw’obusimu okutambula amangu era mu butuufu. Mu bulwadde bwa Krabbe, ekikuta kino ekya myelin kyonooneka.

Ate era mu bulwadde buno, ekika ky’obutoffaali ekitali kya bulijjo mu bwongo ekiyitibwa globoid cells kiyinza okulabibwa. Buno butoffaali bunene obutera okuba ne nucleus ezisukka mu emu.

Ekikuta kya myelin bwe kisaanawo, obutoffaali bw’obwongo butandika okufa. Kino kireeta mpolampola obuzibu obukosa enkola y’obusimu. Okugeza nga:

• Obulemu ku magezi
• Okusannyalala
• Okubulwa amatu oba okuziba amatu

Obulwadde bwa Krabbe mbeera ya kuvunda era nga yeeyongera mpolampola okumala ekiseera. Eky’ennaku kiri nti, emirundi mingi kiggweera mu kufa.

Obulwadde buno bwatuumibwa erinnya lya Knud Krabbe, omukugu mu by’obusimu mu Denmark.

Ani asinga okukosebwa obulwadde bwa Krabbe?

Abantu nga 90% abalina obulwadde bwa Krabbe batandika okufuna obubonero wakati w’emyaka 1 ne 7. Kino kiyitibwa obulwadde bwa Krabbe obw’abaana abawere. Oluusi, obulwadde buno busobola okutandika oluvannyuma lw’emyaka 18 egy’obukulu, mu myaka gy’obuvubuka oba egy’obukulu. Kino kiyitibwa obulwadde bwa Krabbe obutandika ekikeerezi.

Ekisinga obukulu kwe kuba nti obulwadde bwa Krabbe bulwadde obusikira abazadde okutuuka ku baana nga bayita mu buzaale.

Obulwadde buno butera kwenkana wa?

Okutwalira awamu obulwadde bwa Krabbe bulwadde obutatera kulabika nnyo. Kyokka emirundi gy’ebeerawo gyawukana mu bitundu by’ensi eby’enjawulo. Okusinziira ku banoonyereza, obulwadde buno busobola okubaawo mu baana nga omu ku buli 100,000 abazaalibwa nga balamu mu Bulaaya ate omu ku baana 250,000 abazaalibwa nga balamu mu Amerika.

Wabula obulwadde buno businga kubeera mu bitundu ebimu ebyesudde mu Yisirayiri, nga buli bantu 1,000 babufuna abantu nga 6.

Bubonero ki obulaga obulwadde bwa Krabbe?

Obuzibu bw’obubonero bw’obulwadde bwa Krabbe businziira ku myaka obubonero gye butandikira. Obulwadde bwa Krabbe obw’abaana abawere bweyongera mangu era butera okutta nga tebunnaweza myaka 2. Obulwadde bwa Krabbe obutandika ekikeerezi buba butono nnyo, era obulamu bwe buba buwanvu.

Obubonero bw’obulwadde bwa Krabbe obw’abaana abawere

Obubonero bw’obulwadde bwa Krabbe mu buwere busobola okuzuulibwa mu mitendera esatu emikulu:

Omutendera 1:

Omwana alina obulwadde bwa Krabbe atera okukula n’okukula obulungi okutuusa lw’awezezza emyezi 4 ku 6. Awo obubonero we butandikira. Mu bino mulimu:

• Obutawummula emirundi mingi, okunyiiga
• Okusesema
• Okukaluubirirwa okunywa amata
• Okulemererwa Okukulaakulana
• Omusujja ogutera okubeerawo nga tewali kabonero konna kalaga nti alina obulwadde
• Obunafu bw’ebinywa

Omwana alina obulwadde bwa Krabbe ayinza okuba ng’akwatibwako nnyo, okuwulira n’ekitangaala. Ekintu ng’ekyo bwe kijja, omubiri guyinza okuwulira okukaluba (Tonic Spasms). Teebereza, omwana ajja kukankana n’akaluba ng’alina akaloboozi akatono.

Omutendera 2:

Mu mutendera ogwokubiri, oyinza okulaba obubonero nga:

• Okwolesebwa kukyuka
• Optic Atrophy - Kino kitegeeza okunafuwa kw’obusimu bw’amaaso.
• Ennyimiririra ezitali za bulijjo - Okunywezebwa mu binywa by’ensingo, omugongo, n’amagulu kiyinza okuvaako okuyimirira emabega okuva mu bulago okutuuka ku bigere (Opisthotonic Posturing). Kiba ng’okufukamira emabega ng’obutaasa.
• Embeera eziringa ez’okukonziba
• Okukendeeza ku nkula y’obwongo n’omubiri
• Obutasobola kukola bintu ebyali biyigiddwa emabegako (e.g., okumwenya, okukwata omutwe waggulu) nate.

Omutendera 3:

Mu mutendera ogwokusatu, obubonero buno bulabibwa:

• Okubulwa ddala okulaba (okuziba amaaso) .
• Okubulwa ddala okuwulira (obutawulira) .
• Enyimirira y’omubiri etali ya bulijjo - enyimirira ng’emikono n’amagulu bigoloddwa, engalo nga zitunudde wansi, ate omutwe n’ensingo ne bisimbulwa emabega (okuyimirira mu bwongo) .
• Okukendeera kw’obusobozi bw’okutambula.

Okusoma ebikwata ku bintu bino kiyinza okukuleetera okuwulira ennaku n’okutya. Naye okumanya ebintu bino kikulu nnyo mu kuzuula amangu n’okufuna obuyambi bwe weetaaga.

Obubonero bw’Obulwadde bwa Krabbe Obutandikirawo Ekikeerezi

Obulwadde bwa Krabbe obukeerezi butandika wakati w’emyaka 13 ne 36. Obubonero buno bulabika mpolampola bwe buti:

• Okunyiiga
• Okwolesebwa kukyuka
• Entambula etali ya bulijjo
• Okukonziba
• Ebitundu by'okusannyalala
• Obutabeera mu ntebenkevu mu bbugumu ly’omubiri

Mu mbeera eno, emyaka gy’okufa gya wakati giri nga mukaaga.

Obubonero bw’obulwadde bwa Krabbe Obutandikira mu baana abato bwe buno:

• Okwolesebwa kukyuka
• Okukankana
• Obutabeera bulungi mu ntambula
• Obutasobola kufuga ntambula nga bw’oyagala n’okukaluba kw’ebinywa mpolampola
• Obuzibu bw‟okussaayo omwoyo/okukola ennyo (ADHD) .

Omutindo obulwadde obw’ekika kino obwa Krabbe bwe bweyongera bwawukana, naye okufa kutera kuva mu myaka 10 bukya buzuuliddwa.

Obubonero bw'obulwadde bwa Krabbe obutandika ekikeerezi :

• Okwokya mu ngalo n’ebigere
• Enkyukakyuka mu mbeera n’enneeyisa
• Okuwuguka ng’otambula, okufiirwa bbalansi `(Ataxia)`
• Okukaluba kw’ebinywa (Spasticity) .
• Okulaba kukyuka n’okuziba amaaso
• Okukonziba
• Obuzibu mu kuwulira n’okuziba amatu

Abantu bangi abakwatibwa obulwadde bwa Krabbe nga bakuze banafuwa mu birowoozo ne mu mubiri.

Kiki ekivaako obulwadde bwa Krabbe?

Obulwadde bwa Krabbe bulwadde obusiigibwa okuva mu bazadde okutuuka mu baana nga buyita mu buzaale. Kisikira mu nkola ya autosomal recessive pattern. Kino kitegeeza nti kkopi zombi ez’obuzaale mu buli butoffaali bw’omwana zirina okuba n’enkyukakyuka. Omuntu alina obulwadde buno alina kkopi emu ey’obuzaale obukyusiddwa mu buli omu ku bazadde be. Kyokka ebiseera ebisinga abazadde tebalaga bubonero. Bano be basitula obulwadde bokka.

Obulwadde bwa Krabbe buva ku nkyukakyuka mu ggiini `GALC`. Kino kivaamu omubiri obutakola enzyme eyitibwa `Galactocerebrosidase`. Enziyiza eno yeetaagibwa nnyo omubiri gwaffe okukyusa ekirungo ekiyitibwa `Galactocerebroside`. Galactocerebroside eno kitundu kikulu nnyo mu myelin (ekibikka eky’obukuumi okwetoloola obusimu).

Enziyiza eno enkulu bw’ebula, ekikuta kya myelin mu nkola yonna ey’obusimu obw’omu makkati kimenyeka (demyelination). Kino kye kireeta obubonero bw’obusimu obw’obulwadde bwa Krabbe.

Obulwadde bwa Krabbe buzuulibwa butya?

Mu masaza agamu mu Amerika, okukebera obulwadde bwa Krabbe kuzingirwa mu nkola eya bulijjo ey’okukebera abalongo. Kino kwekebeza musaayi.

Engeri endala enkulu ey’okuzuula obulwadde bwa Krabbe kwe kuyita mu kukebera ebifaananyi. Okusingira ddala, sikaani ya MRI (Magnetic Resonance Imaging) esobola okuzuula enkyukakyuka mu bwongo bw’omwana eziraga obulwadde bwa Krabbe. MRI ya mugaso nnyo mu kuzuula ebiwundu ku bwongo mu bulwadde bwa Krabbe. Ebigezo bino era bisobola okuyamba okuzuula obulwadde buno mu buto n’obukulu.

Omwana wo bw’aba azuuliddwa ng’alina obulwadde bwa Krabbe, kebera obunene bw’obuzibu bw’okuwulira n’okulaba.Okukebera okuwulira n’okukeberebwa amaaso kirabika kijja kwetaagisa. Kino kijja kuyamba okuzuula ekika ky’obuuma obuyamba okuwulira n’okulaba omwana wo bw’ayinza okwetaaga.

Singa omwana wo azuulibwa ng’alina obulwadde bwa Krabbe, kirabika omusawo ajja kukuwa amagezi ggwe ne munno mugende mukebere ku buzaale n’okukeberebwa okusobola okwekenneenya akabi k’okuzaala omwana omulala. Era bayinza okuteesa nti ab’omu maka abalala bakeberebwe okulaba oba be basitula obuzaale obwo obutali bwa bulijjo.

Obujjanjabi bw’obulwadde bwa Krabbe bwe buliwa?

Ebyembi, n’okutuusa kati tewali ddagala lya lubeerera eriwonya obulwadde bwa Krabbe. Era, ebiseera ebisinga kiggwa mu kufa.

Wabula waliwo obujjanjabi bumu obuyinza okufuga okukula kw’obulwadde bwa Krabbe: okukyusa obutoffaali obukola omusaayi (HSCT).

Okusimbuliza obutoffaali obusibuka mu mubiri kukyusa obutoffaali obutali bulungi mu mubiri n’okussaamu obutoffaali obulamu. Obutoffaali obukola omusaayi butoffaali obutakuze obuyinza okukula ne bufuuka obutoffaali obw’engeri zonna, omuli obutoffaali obweru, obutoffaali obumyufu, n’obutoffaali obuyitibwa platelets.

Mu HSCT, obutoffaali obusibuka mu musaayi okuva mu muntu omulamu obulungi busimbibwa mu mwana alina obulwadde bwa Krabbe. Kino kiyamba okuwa omwana obutoffaali obulamu n’enkola ennungi ey’enziyiza ya GALC mu bwongo. Wabula HSCT esinga kukola bulungi ng’eweereddwa ng’obubonero tebunnalabika.

Abanoonyereza bakyagenda mu maaso n’okugezaako okunoonya obujjanjabi obulungi ku bulwadde bwa Krabbe. Olw’okuba mu kiseera kino tewali ddagala era obulwadde buno bweyongera okumala ekiseera, obujjanjabi obukulu bwe buyambi obuyambi . Kino kiyinza okuli:

• Ebiwummuza ebinywa okusobola okusika omuguwa mu binywa
• Eddagala eriweweeza ku kukonziba okufuga okukonziba
• Obujjanjabi bw’omubiri okwongera ku kutambula
• Occupational Therapy eri abaana abakulu n’abantu abakulu
• Bwe wabaawo obuzibu mu kumira, okuliisa mu ttanka

Kiki ekitegeeza nti obulwadde bwa Krabbe?

Enteebereza y’obulwadde bwa Krabbe mbi. Ebiseera ebisinga kiggwa mu kufa. Wabula obudde bw’okuwangaala bwawukana okusinziira ku myaka obubonero gye butandikira.

Obulamu bw’abaana abalina obulwadde bwa Krabbe mu buwere buba bwa myezi nga 13. Abaana abasinga obungi abalina obulwadde obulwawo bafa mu myaka ebiri bukya obubonero butandikiddewo.

Omutindo gw’okukula n’obulamu bw’obulwadde bwa Krabbe, obutandikira mu buto n’obukulu, byawukana.

Okufa obulwadde bwa Krabbe kutera kubaawo olw’okulemererwa okussa okuva ku bunafu bw’ebinywa oba yinfekisoni eva ku mmere/amazzi okuyingira mu mawuggwe (aspiration).

Obulwadde bwa Krabbe busobola okuziyizibwa?

Olw’okuba obulwadde bwa Krabbe bulwadde bwa nsikirano, tewali kye tuyinza kukola kubuziyiza.

Wabula bw’oba ​​weeraliikirira akabi akali mu kusikira obulwadde bwa Krabbe oba obuzibu obulala obw’obuzaale nga tonnagezaako kuzaala, yogerako n’omusawo ku by’okubudaabudibwa ku buzaale.

Omwana wange alina obulwadde bwa Krabbe yandibadde alaba ddi omusawo?

Omwana wo ajja kwetaaga okulaba ttiimu ye ey‟ebyobulamu buli kiseera okulondoola obubonero bwe, okulondoola enkulaakulana ye, n‟okutereeza enteekateeka ye ey‟okulabirira okuyamba nga bwe kyetaagisa. Omwana wo bw’afuna obubonero bwonna obupya, tegeeza omusawo wo amangu ago.

Obulwadde bwa Krabbe bulwadde bwa busimu obutatera kulabika, obusikira. Kiyinza okukuwuniikiriza n’okuzitoowerera okukimanya nti omwana wo alina obulwadde bwa Krabbe. Naye jjukira nti toli wekka. Waliwo ebintu ebiyinza okuyamba n’okusomesa ggwe n’ab’omu maka go ku nsonga eno. Okubeera ne ttiimu y’abasawo emanyi obulwadde buno kyetaagisa nnyo okusobola okulabirira omwana wo mu ngeri esinga obulungi.

Mu bufunze (Obubaka Obutwala Awaka)

Bino bye bintu ebyangu by’olina okujjukira ku bulwadde bwa Krabbe:

• Obulwadde bwa Krabbe bulwadde bwa buzaale obutatera kulabika era obwonoona enkola y’obusimu.
• Kino kisaanyaawo ekibikka ekikuuma ekiyitibwa myelin ekyetoolodde obutoffaali bw’obusimu.
• Obuzibu bw’obulwadde n’obulamu bwawukana okusinziira ku myaka obubonero gye butandikira (abaana abawere, abaana, abantu abakulu). Kisinga kuba kya maanyi mu baana abawere.
• Mu kiseera kino tewali ddagala liwonya, wabula waliwo obujjanjabi obuyamba okufuga obubonero n’okutumbula omutindo gw’obulamu. HSCT (hematopoietic stem cell transplant) nga obubonero tebunnalabika oluusi esobola okufuga okweyongera kw’obulwadde.
• Buno bulwadde bwa buzaale era tebusobola kuziyiza. Kyokka, okubudaabudibwa ku buzaale kuyinza okukuyamba okumanya akabi k’olina.
• Omwana wo bw’aba n’obubonero buno, kikulu nnyo okugenda mu maaso n’abasawo amagezi.

Nsuubira nti amawulire gano gakuyamba. Jjukira nti kirungi okunoonya amagezi amatuufu mu basawo ku nsonga yonna ey’ebyobulamu.

` Obulwadde bwa Krabbe, Globoid Cell Leukodystrophy, Myelin, Demyelination, Endwadde z’obuzaale, Endwadde z’obusimu, Endwadde z’abaana