Ngaba umntwana wakho omncinci uqale ukuhamba emva kwexesha kunabanye abantwana? Okanye uyawa rhoqo? Ngaba uqaphele ukuba unobunzima bokuvuka kwindawo yakhe yokuhlala okanye ukunyuka izinyuko? Ezi zizinto ngamanye amaxesha esingazinaki kangako njengabazali. Kodwa ngamanye amaxesha ezi zinokuba ziimpawu zokuqala zesifo esifana neDuchenne Muscular Dystrophy. Ngoko masithethe ngale nto namhlanje. Musa ukoyika, eyona nto ibalulekileyo kukwazi oku.
Yintoni iDuchenne Muscular Dystrophy (DMD)?
Ngamafutshane, 'i-muscular dystrophy' liqela lezifo ezibuthathaka izihlunu ngokuhamba kwexesha kwaye zinciphise ukuguquguquka kwazo. Uhlobo oluqhelekileyo lwale nto yiDuchenne muscular dystrophy, esiyibiza ngokuba yi-DMD ngamafutshane.
Oku kungenxa yesiphene kwi-gene esinceda ukugcina izihlunu zethu ziphilile. Cinga ngezihlunu zethu njengodonga lwezitena. Udonga oludibanisa ezi zitena yiproteni ebizwa ngokuba yi-dystrophin . Kubantwana abane-DMD, umzimba awuvelisi le proteni ye-dystrophin, okanye uvelisa kancinci kakhulu kuyo. Emva koko, njengodonga olungenalo udonga, izihlunu zonakala lula kwaye kancinci kancinci.
Le meko ixhaphake kakhulu kubafana . Iimpawu zihlala zibonakala kwasebuntwaneni. Ekuqaleni, kunokuba nzima ukuma, ukuhamba, nokunyuka izinyuko. Ekuhambeni kwexesha, abanye abantwana banokufuna ukusebenzisa isitulo esinamavili. Intliziyo kunye nemiphunga nazo zinokuchaphazeleka.
Kodwa kukho into ebalulekileyo ekufuneka ithethwe apha. Ngokungafaniyo nexesha elidlulileyo, ixesha lokuphila lanamhlanje kwaba bantwana linyuke kakhulu. Namhlanje, banokuphila kakuhle bade bafikelele kwiminyaka yabo engama-30, engama-40, baze bafikelele kwiminyaka yabo engama-50. Isizathu soku kukuba kukho unyango olufanelekileyo lokulawula iimpawu.
Zithini iimpawu? Uzibona njani?
Ukuba umntwana wakho une-DMD, uya kuzibona iimpawu zokuqala ngaphambi kokuba abe neminyaka emi-6 ubudala. Izihlunu emilenzeni ziyachaphazeleka kuqala. Yiyo loo nto aba bantwana beqala ukuhamba emva kwexesha kunabanye abantwana. Emva kokuba beqalile ukuhamba, bayawa rhoqo, babe nobunzima bokuvuka phantsi, kwaye babe nobunzima bokunyuka izinyuko. Emva kwexesha elithile, banokuqala ukugxadazela okanye ukuhamba ngeencam zeenzwane zabo.
Njengoko umntwana ekhula, iimpawu ezininzi zinokuvela.
| Uphawu | Ingcaciso elula |
|---|---|
| I-Scoliosis | Uxinzelelo lwe-vertebra, okanye umqolo. |
| Iikhontrakthi | Izihlunu kunye nemisipha, ingakumbi emilenzeni, ziyafinyezwa kwaye ziqine. |
| Ubunzima bokufunda | Abanye abantwana banokuba neengxaki zokufunda okanye zokukhumbula. |
| Ubunzima bokuphefumla | Ukuphefumla nzima ngenxa yobuthathaka bemisipha exhasa imiphunga. |
| Intloko ebuhlungu kunye nokozela | Intloko ebuhlungu, ingakumbi kusasa, kunye nokulala emini. |
Kodwa khumbula, i-DMD ayisoloko iyinto ebuhlungu, kwaye ayichaphazeli ingqondo yomntwana.
Indlela yokuxilonga ngokuchanekileyo isifo?
Ukuba ubona ezi mpawu kumntwana wakho, eyona nto ingcono onokuyenza kukubona ugqirha wosapho lwakho ngokukhawuleza. Uza kukubuza ngeempawu zomntwana wakho. Emva koko uza kumhlola umntwana aze, ukuba kuyimfuneko, akuthumelele uvavanyo oluthile.
Uvavanyo oluza kwenziwa ukuba ugqirha unamathandabuzo
- Uvavanyo lwegazi: Oku kujonga kakhulu i-enzyme ebizwa ngokuba yiCreatine Kinase (CK) . Le enzyme ye-CK ikhutshwa egazini xa izihlunu zonakele. Ngoko ke ukuba inqanaba le-CK liphezulu kakhulu, sisizathu esikhulu sokuba une-DMD.
- Uvavanyo lwe-gene: Olu vavanyo, olunokwenziwa ngesampuli yegazi, lunokuchonga ngokuchanekileyo ukuba kukho isiphene kwi-dystrophin gene ebangela i-DMD. Olu vavanyo lunokwenziwa ukuze kubonwe ukuba izalamane ezibhinqileyo nazo zinalo na olu gene (zingabathwali besifo).
- I-biopsy yemisipha:Apha, iqhekeza elincinci kakhulu lomsipha womntwana lithathwa ngenaliti encinci kakhulu lize lihlolwe phantsi kwemakroskopu. Kunokuqinisekiswa ukuba iproteni ye-dystrophin iphantsi na ngokwezinga. Nangona kunjalo, ngenxa yovavanyo oluphambili lwemfuza namhlanje, olu vavanyo alufuneki kwiimeko ezininzi.
Zithini iindlela zonyango?
Okwangoku akukho nyango lwe-DMD. Nangona kunjalo, kukho iindlela ezininzi ezisebenzayo zokulawula iimpawu kunye nokukhusela izihlunu, intliziyo kunye nemiphunga.
- IiCorticosteroids: Amayeza afana nePrednisone kunye neDeflazacort anokunceda ukulawula umonakalo wezihlunu kakhulu. Abantwana abasebenzisa la mayeza banokuhamba iminyaka emi-2-5 ngaphezulu kunabo bangawasebenzisiyo. Akwanceda intliziyo kunye nemiphunga ukuba isebenze ngcono.
- Amayeza Anamhlanje: Namhlanje, kuye kwaqaliswa unyango olujolise kuko ngokuxhomekeke kuhlobo lwesiphene semfuza esibangela i-DMD. Amanye amayeza aquka i-Eteplirsen, iGolodirsen, kunye neCasimersen. La mayeza anceda ukubuyisela iproteni ye-dystrophin engekhoyo kwinqanaba elithile.
- Unyango lwe-gene: (Delandistrogene moxeparvovec - Elevidys) lolona nyango lokuqala lwe-gene oluvunyiweyo ngale njongo. Lubandakanya ukunika umzimba enye iproteni ethatha indawo yomsebenzi weproteni ye-dystrophin kancinci. Olu lunyango olutsha kakhulu kwaye lubiza kakhulu.
- Ingcebiso yoGqirha wentliziyo: Abantwana abane-DMD banokuba neengxaki zentliziyo, ngoko ke ukuvavanywa rhoqo nogqirha wentliziyo kubalulekile. Amanye amayeza oxinzelelo lwegazi anokunceda ukukhusela izihlunu zentliziyo.
- Unyango lweFiziyoloji: Ukuzilolonga kunye nokolula umzimba kunokunceda ukugcina izihlunu kunye namalungu ethambile. Kubalulekile ukufuna iingcebiso kwingcali yefiziyoloji ngale nto.
- Utyando: Kwezinye iimeko, utyando lunokufuneka ukuze kulungiswe izihlunu eziqinileyo (ii-contractures) kunye nokulungisa ukugoba komqolo (i-scoliosis).
Izinto onokuzenza njengabazali
Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo esifana ne-DMD. Kodwa khumbula, ukuba nale meko akuthethi ukuba umntwana wakho akanakuya esikolweni, adlale nabahlobo, okanye onwabe. Ngokulandela isicwangciso sonyango esifanelekileyo, unokunceda umntwana wakho aphile ubomi obusebenzayo.
- Bancede beme baze bahambe kangangoko banako: Oku kunceda ukugcina amathambo abo omelele kwaye umqolo wabo uthe tye. Ukuba kuyimfuneko, ungasebenzisa izixhobo ezifana ne-'braces' okanye 'i-'standing walkers'.
- Nika ukutya okunempilo:Akukho kutya kuthile kwe-DMD. Nangona kunjalo, ukutya okunempilo kunokunceda ukulawula ubunzima kunye nokuthintela izinto ezifana nokuqunjelwa. Thetha nogqirha wezondlo ukuze wenze isicwangciso sokutya esifanela umntwana wakho.
- Hlala ukhuthele: Funa iingcebiso kugqirha wezonyango kwaye ubandakanye umntwana wakho kwimithambo ekhuselekileyo engatsali nzima izihlunu.
- Yomelela nawe: Ukuthetha nezinye iintsapho ezinabantwana abanjalo nokwabelana ngamava kuya kuba ngumthombo omkhulu wamandla kuwe. Joyina amaqela enkxaso kuloo nto. Ukuba kuyimfuneko, ungathandabuzi ukufuna uncedo kwingcali yezengqondo.
Ukuqukumbela, ubomi obune-DMD bunzima. Kodwa ngonyango olufanelekileyo, unyango lomzimba, ukutya okunesondlo, kunye nokhathalelo lothando, aba bantwana banokuphila ubomi obuphumelelayo nobonwabisayo njengaye wonke umntu kuluntu lwanamhlanje. Sonke sinethemba lokuba ngokuqhubela phambili kwesayensi, kuya kuvela unyango olungcono nakwixesha elizayo.
Umyalezo Wokuya Ekhaya
- I-Duchenne muscular dystrophy (DMD) sisifo semfuza esibangela ubuthathaka bemisipha obuqhubekekayo obuchaphazela ikakhulu amakhwenkwe.
- Iimpawu zokuqala zingabandakanya umntwana ohamba kade, ukuwa rhoqo, kunye nobunzima bokunyuka izinyuko.
- Ukuba ukrokrela ukuba unesi sifo, bona ugqirha wakho ngokukhawuleza ukuze akunike ingcebiso. Uvavanyo lwegazi kunye novavanyo lwemfuza lunokunceda ekuxilongweni kwesi sifo.
- Nangona oku kungenakunyangwa ngokupheleleyo, amayeza e-steroid, unyango lwanamhlanje olujoliswe kulo, kunye nonyango lomzimba lunokuphucula kakhulu umgangatho wobomi bomntwana kunye nobomi bakhe.
- Kubaluleke kakhulu ukufuna uncedo kwingcali yentliziyo kunye nengcali yezonyango zomzimba.
- Njengomzali, ukuhlala uqinile engqondweni nokufumana uncedo kumaqela enkxaso kuya kuba namandla amakhulu kuwe nakumntwana wakho.
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