Usenokuba ukhe wambona umntwana osempilweni, ebaleka edlala, eba nzima ukuhamba okanye ukuthetha kancinci kancinci, okanye indlela aziphethe ngayo itshintsha kancinci kancinci. Njengomzali, xa babesenza kakuhle ekuqaleni, baze bazive ngathi amandla omntwana wabo ayawohloka ngokuhamba kwexesha, kunzima ukuchaza uloyiko kunye nexhala olivayo. Isizathu soku sisenokuba sisifo esingaqhelekanga esingazange siviwe sithi. Namhlanje sithetha ngeqela lezifo ezinjalo. Loo nto yi -leukodystrophy .
Ngamafutshane, yintoni i-leukodystrophy?
I-Leukodystrophy ayisosifo esinye. Liqela lezifo ezichaphazela inkqubo yethu yemithambo-luvo (oko kukuthi, ingqondo kunye nomqolo). Oogqirha bahlala befumanisa izinto ezintsha ngayo. Okwangoku, malunga neentlobo ezingama-52 zesi sifo zichongiwe.
Uninzi lwezi ntlobo ze-leukodystrophies zibangelwa yimfuza . Oko kukuthi, zifunyanwa ngabazali ukuya ebantwaneni. Ngamanye amaxesha umntwana unokubonisa iimpawu emva nje kokuzalwa. Nangona kunjalo, abanye abantwana banokuzalwa benesiphene semfuza esinxulunyaniswa nesifo, kodwa kwizigaba zokuqala, banokubonakala bephilile ngokupheleleyo.
Into ebalulekileyo kukuba ezi meko ziyaqhubekeka, oko kuthetha ukuba umntwana osempilweni ekuqaleni unokuba neempawu kamva.
Zithini iimpawu zesi sifo?
Zonke ezi ntlobo ze-leukodystrophy zinento enye ezifana ngayo: zonakalisa i-myelin sheath engqondweni.
Khawucinge ngentambo yombane endlwini yethu. Kukho ishelufu yeplastiki ejikeleze intambo yobhedu kuyo, akunjalo? Yiyo loo nto ivumela umbane ukuba uye kanye apho kufuneka uye khona, ngaphandle kokuvuza. Ngokufanayo, imithambo-luvo yethu ineshelufu emhlophe enamafutha ebizwa ngokuba yi -'myelin' ejikeleze yona. Le shelufu ye-myelin inoxanduva lokuthwala imiyalezo yemithambo-luvo ngokuchanekileyo nangokukhawuleza iye engqondweni nakwingqondo ukuya kwiindawo zomzimba. Xa le shelufu ye-myelin yonakele, inkqubo yethu yemithambo-luvo ayinakusebenza kakuhle.
Uhlobo ngalunye lwe-leukodystrophy lonakalisa esi sheath se -myelin ngeendlela ezahlukeneyo, ngoko ke iingxaki abantwana abanokuba nazo zinokwahluka kakhulu.
| Indawo yeempawu | Iingxaki eziqhelekileyo zibonwa |
|---|---|
| Ukulinganisela komzimba kunye nokuhambahamba | Ubunzima bokuhamba, ukuwa rhoqo, ukungakwazi ukulawula umzimba. |
| Ukuziphatha nokufunda | Ukukhubazeka kokufunda, ukulahlekelwa yinkumbulo, utshintsho kwindlela yokuziphatha. |
| Ukukhula nophuhliso | Ukungaphumeleli ukubonisa uphuhliso olufanelekileyo ngokweminyaka (umz., ukuthetha okulibazisekileyo, ukuhamba). |
| Umsebenzi weemvakalelo | Ukuhla kancinci kancinci kokuva, ukubona, kunye nokukwazi ukuthetha. |
| Ezinye iingxaki ezinxulumene nemithambo-luvo | Ubunzima bokuphefumla, iingxaki zokulawula umchamo, ukuxhuzula. |
Umzekelo, kuhlobo olubizwa ngokuba yiCanavan disease , izihlunu zentamo yomntwana ziyakhubazeka, kodwa iingalo nemilenze yakhe zihlala ziqinile. Basenokulahlekelwa nayimbono yabo kwaye babe nokuxhuzula.
Ngamanye amaxesha iimpawu zibonakala xa umntu ezalwa. Kodwa kuhlobo olufana neRefsum Disease , iimpawu zibonakala xa umntu eneminyaka engama-20 ubudala. Ngamanye amaxesha zinokubonakala xa umntu eneminyaka engama-50 ubudala. Izinto ezinje ngokuba buthathaka kwe-retina, ukulahlekelwa kukuva, kunye nokulahlekelwa yivumba zinokubonakala koku.
Ngenxa yokuba iimpawu zahlukile kakhulu, kunokuba nzima kancinci ukufumanisa esi sifo.
Kutheni olu hlobo lwesifo lusenzeka? Yintoni unobangela?
Njengoko besitshilo ngaphambili, uninzi lwezi zifo ziimeko zemfuza . Oku kuthetha ukuba zibangelwa sisiphene kwiimfuza ezivela kumama okanye kutata, okanye zombini.
Kodwa ezinye iintlobo azizuzwa njengelifa. Zibangelwa kukuguquka kwezakhi zofuzo okutsha. Umzekelo, isifo sika-Alexander asibonakali ngathi sizuzwa njengelifa. Oku kuthetha ukuba nokuba akukho mzali unezakhi zofuzo ezinesiphako, umntwana usenokusivelisa.
Ngoko ke, nangona umntwana omnye kusapho olunye enokuba ne-leukodystrophy, abanye abantwana basenokungabi nayo.
Ukuba omnye wabantwana bakho une-leukodystrophy kwaye ulindele omnye umntwana, kubaluleke kakhulu ukufumana ingcebiso nge-genetic . Oku kuya kukunceda ukuqonde oku kunye nomngcipheko wokuba nomntwana ozayo naye. Thetha nogqirha wakho ngale nto.
Oogqirha bayixilonga njani ngokuchanekileyo le sifo?
Ukuchonga esi sifo yinkqubo enzima kuba iimpawu zahlukile. Ke ngoko, oogqirha kufuneka benze iintlobo ezahlukeneyo zovavanyo.
| Uhlobo lovavanyo | Kalula nje... |
|---|---|
| Uvavanyo lwegazi nomchamo | Ukuchonga izinto ezingaqhelekanga kwiinkqubo zeekhemikhali zomzimba. |
| Iiskeni zeMRI | Ukufumana imifanekiso ecacileyo neneenkcukacha zobuchopho kunye nenkqubo yemithambo-luvo ukuze kujongwe umonakalo kwi-myelin sheath. |
| Iiskeni ze-CT | Olunye uvavanyo lokufota ukuze kufunyanwe utshintsho kwisakhiwo sobuchopho. |
| Uvavanyo lwemfuza | Ukuchonga isiphene esithile semfuza esibangela esi sifo. |
| Uvavanyo lwengqondo nolwengqondo | Ukuvavanya amandla omntwana okucinga, ukufunda, kunye nokukhumbula. |
Ngaba ikhona indlela yokunyanga oku?
Enyanisweni, akukho nyango luqinisekileyo lweentlobo ezininzi ze-leukodystrophy. Nangona kunjalo, oku akuthethi ukuba akukho nto inokwenziwa.
Ngexesha lonyango, oogqirha bagxila ekulawuleni iimpawu kunye nokugcina umgangatho wobomi bomntwana ngeyona ndlela ingcono. Unyango luxhomekeke kuhlobo lwe-leukodystrophy umntwana anayo.
Unyango oluqhelekileyo lulandelayo:
- Ukunika amayeza okulawula iimpawu (umz., ukulawula ukuxhuzula).
- Unyango olukhethekileyo, olufana nonyango lomzimba, unyango lomsebenzi, kunye nonyango lokuthetha , lunokunceda ukuphucula ukuhambahamba komntwana, amandla okwenza imisebenzi yemihla ngemihla, kunye nokuthetha.
- Abanye abantwana banokufuna uncedo olongezelelweyo ekufundeni nasekutyeni .
Kwezinye iimeko, ukufakelwa umongo wethambo kunokucothisa okanye kumise ukuqhubela phambili kwesi sifo. Izazinzulu zikwaphanda ngonyango olutsha, olufana nonyango lwezakhi zofuzo .
Kuko konke oku, eyona nto ibalulekileyo kukuhlala unxibelelana nogqirha wakho kwaye ulandele imiyalelo yakhe.
Umyalezo Wokuya Ekhaya
- I-Leukodystrophy liqela lezifo ezingaqhelekanga zemfuza ezonakalisa i-nerve covering (myelin sheath) engqondweni.
- Nokuba umntwana usempilweni ekuqaleni, iimpawu zinokubonakala kancinci kancinci ngokuhamba kwexesha kwaye imeko inokuba mandundu.
- Ukuba ubona ukuwohloka okungachazekiyo kwindlela umntwana wakho ahamba ngayo, athetha ngayo, angaboniyo okanye aziphatha ngayo, bona ugqirha ngokukhawuleza.
- Nangona kungekho nyango luthile kwiintlobo ezininzi zezifo, kukho unyango lokulawula iimpawu nokuphucula umgangatho wobomi bomntwana.
- Thetha ngokukhululekileyo nogqirha wakho malunga naluphi na uloyiko, amathandabuzo, okanye imibuzo onayo.
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