Ukhathazekile malunga nophuhliso lobuchopho bomntwana wakho? Masithethe ngeMetachromatic Leukodystrophy (MLD)

Njengoko usenokuba uqaphele, abanye abantwana abancinci bakhula ngendlela eyahlukileyo kunabanye. Kuqhelekile ukuba umzali azive exinezelekile kakhulu xa eqala ukuhamba okanye ukuthetha, aze aqaphele ukulibaziseka okuncinci. Namhlanje siza kuthetha ngesifo semfuza esinokuba nexinzelelo olufanayo, kodwa sinqabile kakhulu. Sibizwa ngokuba yi-metachromatic leukodystrophy, okanye i-MLD ngamafutshane. Nangona igama lisenokuvakala liyinkimbinkimbi, masizame ukuligcina lilula.

Yintoni le metachromatic leukodystrophy (MLD)?

Ngamafutshane, `(MLD)` sisifo esingaqhelekanga kakhulu esibangelwa yimfuza. Sichaphazela kakhulu inkqubo yethu yemithambo-luvo ephakathi, oko kukuthi, i-white matter yengqondo kunye nomgogodla , kunye nemithambo-luvo esemagxeni ethu. `(MLD)` sesinye isifo esikwiqela le `(Lysosomal storage diseases)`.

Ngoku usenokuba uzibuza ukuba le nto imhlophe yonakala njani. Kukho into enamafutha ebizwa ngokuba yi-`(Sulfatides)` ngaphakathi kweeseli zethu. Oku kufanele ukuba kuqhekeke ngokwesiqhelo. Kodwa kumntu one-`(MLD)`, ezi `(Sulfatides)` ziqokelelana ngaphakathi kweeseli. Xa oku kuqokelelene, i-`(myelin sheath)`, egquma ukhuseleko olujikeleze imicu yemithambo-luvo, ayiphuhli kakuhle. Le sheath ye-myelin ifana ne-sheath yeplastiki ejikeleze ucingo. Le myelin yiyo enika i-white matter umbala wayo omhlophe.

Ngoko ke, kwenzeka ntoni xa esi sheath se-myelin sonakele? Ukusebenza kwengqondo yethu kunye nokusebenza kwemisipha, oko kukuthi, intshukumo yemisipha, kuncipha kancinci kancinci. Iimpawu ze-``(MLD)`` ziba nzima ngakumbi ngokuhamba kwexesha, kwaye kwiimeko ezininzi, ukufa kunokwenzeka kwiminyaka embalwa emva kokuxilongwa.

Oku kubizwa ngokuba yi-metachromatic leukodystrophy ngesizathu esikhethekileyo. Xa ingcali yezifo ikujonga phantsi kwe-microscope, iiseli ezinee-sulfatides zifunxa umbala ngokwahlukileyo kunezinye iiseli ezizingqongileyo. Yiyo loo nto ibizwa ngokuba yi-"metachromatic." Igama elithi "Leukodystrophy" lithetha ukutshatyalaliswa kancinci kancinci kwezinto ezimhlophe ("leuco" lithetha umhlophe, kwaye elithi "dystrophy" lithetha ukubola).

Ziziphi iintlobo eziphambili ze-`(MLD)`?

Kukho iintlobo ezintathu eziphambili zesi sifo (i-MLD). Ezi zahlulwe ngokweminyaka ezikhula ngayo.

I-MLD yosana esemva kwexesha

Olu lolona hlobo luqhelekileyo lwe-MLD. Idla ngokuchaphazela iintsana eziphakathi kweenyanga ezili-12 ukuya kwezingama-20 ubudala, okanye malunga nonyaka onesiqingatha. Iimpawu ziquka ubunzima bokuhamba, ukulibaziseka kokukhula, ubumfama, kunye ne-dementia. Okubuhlungu kukuba, uninzi lwabantwana abanale meko bafa ngaphambi kokuba bafikelele kwiminyaka emi-5 ubudala. Malunga nama-50% ukuya kuma-60% ezigulane ze-MLD ziwela kolu luhlu.

I-MLD yabaselula (i-MLD)

Olu hlobo ludla ngokubaIchaphazela abantwana abaphakathi kweminyaka emi-3 neli-10 ubudala. Aba bantwana banokubonisa iimpawu ezifana nokukhubazeka kwengqondo, iingxaki zokuziphatha, ukuxhuzula, kunye ne-dementia. Umntwana onolu hlobo lwe-MLD angafa kwiminyaka eli-10 ukuya kwengama-20 emva kokuba efunyenwe ene-MLD. Malunga nama-20% ukuya kuma-30% ezigulane ze-MLD ziwela kolu didi.

I-MLD yabantu abadala

Idla ngokuqala emva kweminyaka eli-16, oko kukuthi, xa ufikisa okanye emva koko. Iimpawu ziquka utshintsho lwengqondo, ukuxhuzula, kunye ne-dementia. Ukufa kunokwenzeka phakathi kweminyaka emi-6 neli-14 emva kokufunyaniswa ukuba unayo. Malunga ne-15% ukuya kwi-20% yezigulana ze-MLD ziwela kolu didi.

Ingaba sinqabile kangakanani esi sifo `(MLD)`?

Ewe, i-MLD sisifo esingaqhelekanga. Ngokutsho kwabaphandi, sichaphazela malunga nomntu omnye kwabangama-40,000 eMelika. Nangona kunjalo, sixhaphake kakhulu kwezinye iindawo ezizimeleyo. Umzekelo, abantu baseNavajo bafunyenwe benaso malunga nomntu omnye kwabangama-2,500.

Zithini iimpawu zesifo `(MLD)`?

Iimpawu ze-MLD zinokwahluka ngokuxhomekeke kuhlobo lwazo. Kodwa ngokubanzi, zonke iintlobo ziyawohloka kancinci kancinci ukusebenza kwenkqubo yemithambo-luvo. Oku kuthetha ukuba izinto ezifana nokuhamba kwemisipha, ubukrelekrele, isimo sengqondo, kunye nobuntu ziyachaphazeleka.

Iimpawu ze-MLD yosana olufikisayo

Iintsana ezinolu hlobo lwe-`(MLD)` ekuqaleni zinokubonakala zikhula ngendlela eqhelekileyo, kodwa emva konyaka, ziqala ukubonisa ezi mpawu:

• Kuba nzima ukuhamba , ekugqibeleni kube nzima ukuhamba konke konke.
• Ubuthathaka bemisipha (hypotonia) buyenzeka.
• Ukulibaziseka kophuhliso kubonakala.
• Ubunzima bokuthetha (i-dysarthria).
• Kancinci kancinci , ukubona kuyaphela kwaye ubumfama buyenzeka.
• Ubunzima bokuginya (dysphagia).
• I-Dementia iyenzeka.

Iimpawu ze-MLD yolutsha

Abantwana abanolu hlobo lwe-MLD banokubonisa iimpawu ezifana nezi:

• Izakhono zengqondo ziyawohloka. Oku kunokubonakala kumsebenzi wesikolo.
• Iingxaki zokuziphatha ziyavela.
• Utshintsho kubuntu luyabonakala.
• Ukungakwazi ukulawula iintshukumo zemisipha.
• Kwenzeka i-peripheral neuropathy.
• Kuza kubakho ukuxhuzula.
• I-Dementia iyenzeka.

Iimpawu ze-MLD yabantu abadala

Utshintsho lwengqondo zezona mpawu ziphambili ezibonwa kubantu abadala abane-MLD.Iingxaki zomzimba zokuhamba zisenokuba azikho okanye azikho kangako. Iimpawu zokuqala zisenokuba kukungasebenzi kakuhle kotywala, ukusetyenziswa kakubi kweziyobisi, okanye iingxaki esikolweni/emsebenzini.

Ezinye iimpawu zezi:

• Iingxaki zengqondo, ezinje ngokubona izinto ezingekhoyo, ukuphazamiseka kwengqondo, okanye i-schizophrenia .
• Ukuxhuzula.
• I-peripheral neuropathy.
• Isifo sengqondo esixhalabisayo.

Ngamanye amaxesha oogqirha banokufumanisa i-MLD ngendlela engafanelekanga kubantu abadala njenge-bipolar disorder okanye i-dementia.

Yintoni ebangela `(MLD)`?

Eyona nto ibangela i-MLD kukuguquka kwezakhi zofuzo okuzuzwe ngabazali bobabini.

Uninzi lwezigulane ze-MLD zinenguqu kwi-ARSA gene. Le gene iyalela ukuveliswa kwe-enzyme ebizwa ngokuba yi-Arylsulfatase A. Le enzyme inceda ekuqhekekeni kwe-sulfatides ezikhankanyiweyo apha ngasentla. Ngoko ke, ngenxa yokuguqulwa kwe-gene, abantu abane-MLD abayivelisi le enzyme, okanye bayivelise kancinci kakhulu. Ngenxa yoko, i-sulfatides iqokelelana. Oku kuqokelelana kwe-sulfatides kuyityhefu kwi-white matter yenkqubo yemithambo-luvo, kubonakalisa ezo seli.

Ezinye izigulana ze-MLD zinokuba notshintsho kwi-gene ye-PSAP, ekwabonelela ngemiyalelo yokuqhekeza ii-sulfatides.

Ngaba le nto ivela kwiijini?

Ewe, `(MLD)` sisifo semfuza. Sizuzwa njengelifa ngendlela ye-`(autosomal recessive)`. Oku kuthetha ukuba bobabini abazali bomntu onesi sifo baphethe ikopi enye yesi jini siguquliweyo (`(abathwali)`). Nangona kunjalo, abo bazali abadli ngokubonisa zimpawu. Ukuze umntwana abe nesi sifo, esi jini sinesiphene kufuneka sizuzwe njengelifa kumama nakutata.

Zithini iziphumo ebezingalindelekanga ezinokubakho ze-`(MLD)`?

Iziphumo ebezingalindelekanga eziphambili ezinokubakho ngenxa ye-`(MLD)` zezi:

• Ukwehla kwengqondo (i-dementia)
• Ubumfama obubangelwa kukuphelelwa ngamandla kwemithambo-luvo.
• Ukungondleki kakuhle.
• I-pneumonia yokuphefumla ibangelwa kukutya okanye ulwelo olungena kwindlela yomoya .
• Ukufa.

Ifunyaniswa njani i-MLD?

Ukuba ugqirha (odla ngokuba yingcali yezifo zengqondo) urhanela ukuba une-MLD ngokusekelwe kwiimpawu zakho okanye zomntwana wakho, unokuyalela iimvavanyo ezifana nezi:

• Uvavanyo lwemfuza: Oku kungafumanisa utshintsho kwimfuza ethi ``ARSA'' kunye ne ``PSAP'' ezibangela ``MLD''.
• Uvavanyo lwebhayoloji:Oku kunokulinganisa inqanaba le-`(Sulfatides)` emzimbeni wakho. Umzekelo, umsebenzi we-`(Sulfatase)` kunye namanqanaba e-`(Sulfatides)` kumchamo ayavavanywa.
• I-Brain MRI: Oku kunceda ukuqinisekisa ukuxilongwa kwe-MLD. Ekubeni abantu abane-MLD benendlela ethile yokulahleka kwe-myelin, i-MRI ingasetyenziselwa ukumisela ukuba i-myelin ikhona okanye ayikho.

Wakuba ufunyaniswe une-MLD, ungacelwa ukuba wenze olunye uvavanyo ukuze ubone ukuba esi sifo siyichaphazele kangakanani inkqubo yakho yemithambo-luvo. Ezi ziquka:

• Uvavanyo lwe-neurocognitive.
• Uvavanyo lwe-neuropsychological.
• Uvavanyo lokuqhuba imithambo-luvo.

Ziziphi iindlela zonyango ze-`(MLD)`?

Ngelishwa, akukho nyango lwe-MLD. Injongo ephambili yonyango kukulawula iimpawu nokuphucula umgangatho wobomi. Oogqirha banokucebisa ukufakelwa kweeseli ze-stem ukuze kuncitshiswe ukuqhubela phambili kwesi sifo, nokuba ngaphambi kokuba kuvele iimpawu okanye kubantwana abaneempawu ezincinci.

Iindidi ezahlukeneyo zamayeza zinokunikwa ukulawula iimpawu, ezinje:

• Amayeza okulwa nokuxhuzula.
• Nciphisa ukuqina kwemisipha (ukuxinana) (izinto eziphumza imisipha).
• Amayeza okudakumba kwiingxaki zengqondo.
• Ii-NSAIDs kunye nezinye iintlungu ezithomalalisa iintlungu.

Ezinye iindlela zonyango ezinokusetyenziswa ziquka:

• Unyango lomzimba lokunciphisa amandla emisipha nokuqina kwayo.
• Unyango lomsebenzi ukunceda ngemisebenzi yemihla ngemihla.
• Unyango lokuthetha olunceda ekulweni nobunzima bokuthetha nokuginya.
• Unyango lwengqondo kwiingxaki zempilo yengqondo.
• I-Percutaneous endoscopic gastronomy (PEG) yindlela yokondla ngetyhubhu esiswini ngenxa yeengxaki zokutya kunye neengxaki zesondlo.

Wena okanye umntwana wakho ninokufaneleka ukufumana unyango oluthomalalisa iintlungu . Unyango oluthomalalisa iintlungu lunyango olunceda kwiimpawu, intuthuzelo, kunye nenkxaso kubantu abanezifo ezinzulu ezifana ne-MLD. Lukwanceda abo banyamekela isigulana. Lungenziwa kunye nolunye unyango lwe-MLD.

Kwenzeka ntoni kumntu onesifo `(MLD)`? (Inkqubela phambili yesifo)

Ingqikelelo ye-MLD ayilunganga kangako. Sisifo esiqhubekekayo. Oku kuthetha ukuba iimpawu ziyasasazeka kwaye ziba mandundu. Umntu one-MLD ulahlekelwa ngokupheleleyo kukusebenza kwemisipha nengqondo, aze ekugqibeleni afe.

Ungaphila ixesha elingakanani une-`(MLD)`?

Ixesha elichithwa ngumntu one-MLD lixhomekeke kwiminyaka aqala ngayo ukufunyaniswa esi sifo.

• Uhlobo lobuntwana olusemva kwexesha:Ukufa kudla ngokuvela kwiminyaka emihlanu ukuya kwemithandathu emva kokuba kufunyenwe isifo.
• Uhlobo lolutsha: Olu hlobo lwesi sifo aluxhaphakanga kangako kwaye ludla ngokubangela ukufa kwiminyaka eli-10 ukuya kwengama-20 emva kokufunyaniswa kwaso.
• Uhlobo lomntu omdala: Ukufa kudla ngokuvela phakathi kweminyaka emi-6 neli-14 emva kokuba kufunyenwe isifo.

Ngaba ikho indlela yokuthintela `(MLD)`?

Ngenxa yokuba i-MLD sisifo esibangelwa lufuzo, akukho nto inokwenziwa ukuyithintela.

Nangona kunjalo, ukuba kukho umntu kusapho lwakho one-MLD kwaye uceba ukuba nomntwana, kungcono ukufuna iingcebiso ngemfuza ukuze ufumane ukuba nawe ungumntu othwala olu tshintsho lwemfuza.

Umnyamekela njani umntu one-`(MLD)`? / Wenza ntoni ukuba wena okanye umntwana wakho une-`(MLD)`?

Ukuba wena okanye umntwana wakho une-MLD, kubalulekile ukufumana unyango olungcono kangangoko. Kufuneka uyikhuthaze kwaye ube nomdla kuyo. Kulapho kuphela apho unokugcina ubomi bakho busemgangathweni ophezulu.

Kwakhona, kubaluleke kakhulu ukujoyina iqela lenkxaso ukuze udibane nabanye abanamava afana nawe kwaye wabelane ngezimvo.

Ufanele uye nini kugqirha?

Ukuba wena okanye umntwana wakho une-MLD, kufuneka nidibane neqela lakho lezonyango rhoqo ukuze nibone ukuba isifo siqhubeka njani kwaye nilungise isicwangciso senu sonyango njengoko kufuneka.

Ukuxilongwa kwe-(MLD) kunokuba nzima kakhulu. Nangona kunjalo, iqela lakho lezonyango linokukunceda uphuhlise isicwangciso sokulawula iimpawu esikusebenzelayo. Kubalulekile ukuqinisekisa ukuba ufumana inkxaso oyifunayo kwaye uhlale unolwazi ngempilo yakho. Khumbula, iqela lakho lezonyango lihlala likhona ukukunceda wena nosapho lwakho.

Ukuba sidibanisa izinto esithethe ngazo (Umyalezo Wokubuyela Ekhaya)

Kulungile, ngoko ke sithethe kakhulu nge-`(Metachromatic Leukodystrophy - MLD)` namhlanje, akunjalo?

Ngamafutshane, `(MLD)` sisifo esingaqhelekanga kakhulu, esibangelwa yimfuza. Sonakalisa ulwelo olumhlophe lwengqondo kunye nenkqubo yemithambo-luvo. Sibangelwa kukuqokelelwa kwamafutha ohlobo olubizwa ngokuba yi`(Sulfatides)` ngaphakathi kweeseli.

Kukho iintlobo ezintathu zesi sifo – esosana, esomntu omdala, nesomntwana. Ngayinye ineempawu ezahlukeneyo kunye nokukhula kwaso.

Ngelishwa, akukho nyango lwesi sifo. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokunceda ukulawula iimpawu kunye nokugcina umgangatho wobomi ulungile. Ukufakelwa kweeseli ze-stem ngamanye amaxesha kunokunceda ukulawula ukusasazeka kwesi sifo.

Nangona esi sisifo semfuza kwaye singenakuthintelwa, iingcebiso ngemfuza zibalulekile ukuba kukho imbali yosapho.

Eyona nto ibalulekileyo kukubonelela ngenkathalo nenkxaso engcono kumntu onesifo.Unyango olufanelekileyo, unyango oluthomalalisayo, kunye nothando nengqalelo yosapho zonke zibaluleke kakhulu. Awuwedwa, kwaye kukho oogqirha, abacebisi, kunye namaqela enkxaso ukukunceda kolu hambo.

I- leukodystrophy ye-Metachromatic, i-MLD, izifo zemfuza, izifo ze-neurological, i-white matter, i-myelin, izifo zabantwana