Ingabe amalunga akho avame ukuxega? Ingabe isikhumba sakho siyaphuka kalula? Ingabe kungaba yi-Ehlers-Danlos Syndrome?

Ingabe ngezinye izikhathi uzizwa sengathi amalunga akho ezingalweni nasemilenzeni anyakaza kalula, sengathi akhululekile? Noma ingabe uyaphuka noma uphenduka ube luhlaza okwesibhakabhaka kalula ngisho noma uthinta kancane? Ungase ucabange, "O, kumelwe ukuthi ngiyisiwula kancane." Kodwa akukhona lokho kuphela. Kungaba ngenxa yesimo esibizwa ngokuthi i-Ehlers-Danlos Syndrome (EDS) , esingavamile kakhulu, kodwa okubalulekile ukwazi ngaso. Ake sixoxe ngalokhu ngokuningiliziwe namuhla.

Iyini i-Ehlers-Danlos Syndrome (EDS)?

Kalula nje, i-Ehlers-Danlos syndrome yisimo esithinta izicubu ezixhumene emizimbeni yethu. Manje ungase uzibuze ukuthi yiziphi izicubu ezixhumene. Cabanga ukuthi imizimba yethu injengendlu, kanti izicubu ezixhumene nazo zifana nosimende nodaka olubamba izinto ndawonye, ​​oluzinika amandla, njengezindonga nophahla. Zikhona yonke indawo emizimbeni yethu - zisiza ekubambeni izitho zethu ndawonye, ​​futhi zisiza ekuhlanganiseni izingxenye zomzimba wethu ndawonye.

Lesi zicubu ezixhumeneyo sakhiwe ngezinhlobo ezimbili eziyinhloko zamaprotheni: i-collagen ne -elastin . Ku-EDS, imizimba yethu ayikwazi ukukhiqiza le phrotheni ebizwa ngokuthi i-collagen kahle. Okwenzekayo ukuthi umuntu one-EDS une-collagen ebuthakathaka. Lokhu kusho ukuthi izicubu zakhe ezixhumeneyo aziqinile noma aziqinile njengoba kufanele.

Lesi simo singathinta noma yiziphi izicubu zomzimba wakho. Isibonelo:

• Nge-cartilage yakho
• Emathanjeni
• Egazini
• Ezicutshini ezinamafutha

Kuye ngokuthi i-EDS ithinta kuphi izicubu zakho ezixhumeneyo, ungase ube nezimpawu ezifana nalezi:

• Esikhumbeni sakho
• Emalungeni
• Emisipheni
• Emithanjeni yegazi

Into ebalulekile ukuthi i-Ehlers-Danlos syndrome iyisifo esibangelwa ufuzo . Lokhu kusho ukuthi singadluliselwa ezizukulwaneni ngezizukulwane. Uma othile emndenini wakho - okungukuthi, umuntu oseduze nawe, njengomama wakho, ubaba, izingane zakini, ugogo nomkhulu - enalesi simo, kubaluleke kakhulu ukuthi ubonane nodokotela bese uhlolwa.

Ingabe zikhona izinhlobo ze-Ehlers-Danlos syndrome?

Yebo, odokotela bahlukanisa i-Ehlers-Danlos syndrome ngezinhlobo eziyinhloko ezingaba ngu-13, kuye ngokuthi lesi simo sithinta kanjani umzimba nokuthi yiziphi izimpawu ezibangela lokho.

Izinhlobo ezivame kakhulu zivame ukubangela amalunga axegayo noma angazinzile kanye nesikhumba esithambile kakhulu futhi esiphuka kalula. Kodwa-ke, kunezinhlobo ezithile ezingavamile ezingabangela izinkinga ezisongela impilo. Ikakhulukazi , i-vascular Ehlers-Danlos syndrome — uhlobo lwe-EDS oluthinta imithambo yegazi — lungaba yingozi kakhulu.

Udokotela wakho uzokuchazela ukuthi hlobo luni lwe-EDS onalo nokuthi yiluphi ukwelashwa okudingekayo.

Sivame kangakanani lesi simo?

Ngokusho kochwepheshe, ngokwesilinganiso, cishe umuntu oyedwa kwabangu-5,000 angaba ne-Ehlers-Danlos syndrome. Lokhu kusho ukuthi kunabantu eSri Lanka abanalesi simo, kodwa kungenzeka abazi ngaso.

Ziyini izimpawu ze-Ehlers-Danlos syndrome?

Nakuba uhlobo ngalunye lwe-EDS lunezimpawu zalo ezihlukile, kunezimpawu ezimbalwa ezivamile ezivame ukubonakala. Ake sibheke ukuthi ziyini:

• Amalunga ahambayo: Lokhu kuyimpawu evamile kubantu abaningi. Amalunga akho angase azizwe ekhululekile futhi engazinzile. Abanye abantu bangagoba futhi basonte iminwe yabo, izindololwane, namadolo ngezindlela ezingavamile kakhulu kunabanye. Cabanga ngakho, mhlawumbe uke wababona abantu begoba imizimba yabo njengoba benza esekisini, futhi abanye abantu bangase babe nalelo khono ngenxa ye-EDS. Kodwa lokhu akuyona into enhle ngaso sonke isikhathi, ngoba amalunga angaqhekeka kalula.
• Isikhumba sithambile kakhulu, sincane, futhi sinwebeka ngaphezu kokujwayelekile: Isikhumba singanwebeka njengebhande lerabha. Isikhumba sabanye abantu sizwakala sibushelelezi kakhulu uma usithinta, njenge-velvet. Futhi ngezinye izikhathi isikhumba singaba sincane kakhulu.
• Ukuphuka kalula, ukuphenduka kube luhlaza okwesibhakabhaka njalo: Uma uthola imihuzuko emikhulu ngisho nangemva kokuphuka noma ukuphuka okuncane, lokho nakho kuyisibonakaliso salokhu. Abanye abantu bangase bangakwazi ngisho nokuthola ukuthi kungani lokhu kwenzeka.
• Amanxeba athatha isikhathi eside kakhulu ukuphola, futhi amanxeba avela ngezindlela ezingavamile: Ngisho namanxeba amancane athatha isikhathi eside ukuphola. Ngezinye izikhathi amanxeba abonakala emancane kakhulu, njengezibazi zephepha likagwayi.
• Ubuhlungu bamalunga nemisipha: Lokhu kuyinkinga abantu abaningi abanayo. Bazizwa bebuhlungu futhi bekhathele njalo.
• Ukukhathala: Ukuzizwa ukhathele ngaso sonke isikhathi, kungakhathaliseki ukuthi ulala kangakanani.
• Ubunzima bokugxila: Ubunzima bokugxila emsebenzini, njengokungathi ubuchopho bugcwele inkungu.

Uma unesinye noma ngaphezulu salezi zimpawu, kungcono ukufuna iseluleko sezokwelapha.

Yini ebangela i-Ehlers-Danlos syndrome?

Isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo . Kalula nje, lapho amangqamuzana ethu ehlukana futhi kwakheka amangqamuzana amasha, ulwazi oluku-"DNA" yethu luyakopishwa. Uma kukhona ushintsho oluncane, isici, noma umonakalo ochungechungeni lwe-"DNA" phakathi nalokhu kukopishwa, lokho kubizwa ngokuthi ukuguquka kwezakhi zofuzo. Njengoba nje uhlamvu oluncane ku-recipe lususwa, ukunambitheka nokubukeka kokudla kuyashintsha.

Ku-EDS, lokhu kuguquka kwezakhi zofuzo kuvimbela umzimba ekukhiqizeni iphrotheni ebizwa ngokuthi i-collagen . I-Collagen yinto eyinhloko enika isikhumba sethu amandla, amalunga, kanye nemithambo yegazi. Uma ingakhiqizwanga kahle, zonke izinkinga ezishiwo ngenhla ziyavela.

Ochwepheshe bathole izinguquko zezakhi zofuzo ezingaphezu kuka-20 ezingabangela i-EDS. Ukuguqulwa kwezakhi zofuzo okuqondile onakho kunquma ukuthi yiziphi izingxenye zomzimba wakho ezithintekile. Kodwa-ke, ngezinye izikhathi odokotela abakwazi ukukhomba ngqo ukuthi yikuphi ukuguquka kwezakhi zofuzo okubangela i-EDS yomuntu.

Ubani osengozini enkulu yokuthuthukisa lokhu?

Ezinye izinhlobo ze-EDS zizuzwa njengefa . Lokhu kusho ukuthi uma abazali benalesi simo, ukuguquka kwezakhi zofuzo kungadluliselwa ezinganeni zabo. Kodwa-ke, ezinye izinhlobo zingabantu abaphila ngokocansi – okusho ukuthi umuntu angasihlakulela ngaphandle kokuba omunye emndenini abe naso, futhi asidluliselwa esizukulwaneni ngesizukulwane.

Uma omunye noma bobabili abazali bakho bemvelo bene-EDS, usengozini yokuthola lesi simo. Futhi, uma une-EDS, izingane zakho zingadlulisela ukuguquka kwezakhi zofuzo okubangela lokho.

Ukuze ufunde kabanzi ngalokhu, ungacela ukwelulekwa ngofuzo . Abeluleki ngofuzo bangachaza ingozi yokuthola lezi zimo kuwe, noma bazidlulisele ezinganeni zakho.

Yiziphi izinkinga ze-Ehlers-Danlos syndrome?

Inkinga evame kakhulu abantu abane-EDS abangayithola ukuhlukana kwamalunga , okuwukuphuka kwamathambo amalunga endaweni yawo evamile.

Okubalulekile: Uma uke wacabanga ukuthi uphumile ilunga, ungazami ukulibuyisela endaweni yalo wedwa. Ukwenza kanjalo kungabangela umonakalo owengeziwe. Yiya ekamelweni lezimo eziphuthumayo (ETU) ngokushesha. Ngezinye izikhathi, kungase kudingeke ukuhlinzwa ukuze kulungiswe ilunga eliphumile.

Ezinye izinhlobo ze-EDS, ikakhulukazi i -vascular Ehlers-Danlos syndrome okukhulunywe ngayo ngaphambili, zingabangela izinkinga ezisongela ukuphila. Lolu hlobo lungabangela ukuqhekeka kwemithambo yegazi. Lokhu kungabangela ukuphuma kwegazi emzimbeni, okuholela ezimweni eziyingozi ezifana nesifo sohlangothi .

Abantu abanalolu hlobo lwe-EDS basengozini enkulu yokuqhekeka kwezitho zomzimba. Amathumbu kanye nesibeletho sowesifazane okhulelwe yizona zitho ezivame ukuqhekeka.

Izinkinga ongase ubhekane nazo zincike ohlotsheni lwe-EDS onayo. Ezinye izinkinga zingafaka:

• Izinkinga zamavalvu enhliziyo (amavalvu aphampa igazi awasebenzi kahle).
• Ukugoba okukhulu komgogodla (i-scoliosis).
• Ukuncipha kwe-cornea yamehlo.
• Izitho ezigobile.
• Izinkinga zamazinyo nezinsini.

I-Ehlers-Danlos syndrome itholakala kanjani?

Udokotela uzonquma ukuthi une-Ehlers-Danlos syndrome ngokukuhlola ngokomzimba nangokuthatha umlando wakho wezokwelapha. Bazobheka isikhumba sakho namalunga, bese bekubuza ngezimpawu zakho. Tshela udokotela wakho ukuthi waqala nini ukuba nezimpawu nokuthi izimpawu zakho ziba zimbi yini uma wenza izinto ezithile.

Ngenxa yokuthi abantu abaningi abane-EDS abakwazi ukuthola uguquko lwezakhi zofuzo olutholakele, odokotela bavame ukwenza ukuxilongwa ngokusekelwe ezimpawu kanye nomlando wezokwelapha.

Iphathwa kanjani i-Ehlers-Danlos syndrome?

Udokotela wakho uzoncoma ukwelashwa kwe-Ehlers-Danlos syndrome ukusiza ukulawula izimpawu zakho nokuvimbela izinkinga eziyingozi. Ukwelashwa okufanele kuzoncika ohlotsheni lwe-EDS onalo nokuthi luthinta kanjani izicubu zakho ezixhumeneyo.

Ezinye zezindlela zokwelapha ezivame ukusetshenziswa yilezi:

• Ukuvikela isikhumba sakho: Sebenzisa isithako sokuvikela ilanga uma uphuma elangeni, futhi usebenzise insipho ethambile engeyona ingozi esikhumbeni. Ngenxa yokuthi isikhumba sibucayi kakhulu, sidinga ukunakekelwa.
• Ukwelashwa ngokomzimba: Ukuzivocavoca ukuqinisa imisipha ezungeze amalunga. Lokhu kunikeza ukwesekwa okwengeziwe kumalunga futhi kunganciphisa ukuqina kwamalunga.
• Ukugqoka ama-braces: Odokotela bangase batuse ukugqoka ama-braces akhethekile ukuze basekele amalunga futhi bawagcine eqinile.

Ngenxa yokuthi abantu abane-Ehlers-Danlos basengozini enkulu yokuthola i-osteoarthritis nezinye izinkinga zamalunga, udokotela wakho angakutshela ukuthi ugweme izinto ezithile. Isibonelo:

• Ukuphakamisa okunzima (ukuphakamisa okunzima).
• Ukuvivinya umzimba okunamandla kakhulu – isib. ukugijima, ukugxuma.
• Ezemidlalo zokuxhumana – isib. i-rugby, ibhola likanobhutshuzwayo.

Ingabe i-Ehlers-Danlos syndrome ingavinjelwa?

Ngeshwa, cha, i-Ehlers-Danlos syndrome ayinakuvinjelwa . Njengoba singenakukwazi ukulawula ukuguquka kwezakhi zofuzo okubangela lokhu, ayikho indlela yokuvimbela i-EDS. Uma ukhathazekile ngokuthi ungase udlulisele i-EDS (noma esinye isimo sezakhi zofuzo) ezinganeni zakho, khuluma nodokotela wakho mayelana nokwelulekwa kwezakhi zofuzo .

Uma ngine-EDS, yini okufanele ngiyilindele?

Uma une-Ehlers-Danlos syndrome, kuzodingeka ulawule izimpawu zakho impilo yakho yonke. Akukho ukwelashwa okwamanje . Kodwa-ke, uma usufunde ukulawula izimpawu zakho, kufanele ukwazi ukubuyela emisebenzini yakho evamile. Kungadingeka ugweme umsebenzi onzima womzimba (njengemidlalo yokuxhumana).

I-Ehlers-Danlos syndrome ayithinti wonke umuntu ngendlela efanayo. Lokho obhekana nakho kuzoncika ohlotsheni lwe-EDS onalo kanye nobukhali bezimpawu zakho. Buza udokotela wakho ukuthi yini ongayilindela ngokusekelwe esimweni sakho.

Ingakanani iminyaka yokuphila komuntu one-Ehlers-Danlos syndrome?

Izinhlobo eziningi ze-EDS azithinti isikhathi sakho sokuphila, okusho ukuthi azifinyezi isikhathi sakho sokuphila.

Kodwa-ke, uma une-EDS ethinta imithambo yegazi (njenge-vascular Ehlers-Danlos syndrome), ungase ube sengozini enkulu yokushaywa yisifo sohlangothi noma ezinye izinkinga zemithambo yegazi ezibulalayo.

Ngisho noma une-vascular Ehlers-Danlos syndrome, udokotela wakho angakusiza ukuthola ukwelashwa kanye nezinguquko zendlela yokuphila ezizokusiza ukuthi uphile impilo ephephile nenempilo. Khuluma nodokotela wakho mayelana nezimpawu zezinkinga eziyingozi okufanele uziqaphele.

Ngizinakekela kanjani?

Qaphela izimpawu zakho bese ubona udokotela uma ubona noma yiziphi izinguquko. Udokotela wakho uzokutshela ukuthi kufanele uze kangaki emtholampilo ukuze aqaphe umzimba wakho ukuze abone izinguquko. Bazokwenza izinguquko ekwelashweni kwakho uma kudingeka.

Gwema ezemidlalo ezithinta kakhulu. Imisebenzi yomzimba enzima, njengemidlalo ehilela ukuthintana ngokomzimba, yandisa ingozi yokulimala kwamalunga akho (ikakhulukazi amalunga agxumagxumayo).

Kufanele ngimbone nini udokotela wami?

Bona udokotela uma isikhumba noma amalunga akho ezizwa ebuthakathaka, ekhululekile, noma enezinguquko emzimbeni wakho. Bona udokotela uma unamanxeba kaningi kunangaphambili noma uma uzizwa sengathi uyopha.

Kufanele ngiye nini eMnyangweni Wezimo Eziphuthumayo (i-ETU) ?

Uma wena noma othile ohamba naye enezimpawu zesifo sohlangothi , iya ekamelweni eliphuthumayo ngokushesha noma ushayele u-1990.

Qaphela izimpawu eziyisixwayiso zesifo sohlangothi futhi ukhumbule UKUSHESHA :

• B - Ibhalansi: Qaphela ukulahlekelwa ibhalansi ngokuzumayo.
• E - Amehlo: Hlola ukulahlekelwa umbono ngokuzumayo kwelinye noma kuwo womabili amehlo, noma ukubona kabili.
• F - Ubuso: Cela umuntu ukuthi amamatheke. Bheka ukuthi uhlangothi olulodwa noma zombili zobuso ziyagoba. Lokhu kuwuphawu lobuthakathaka bemisipha noma ukungasebenzi kahle kwayo.
• A - Izingalo: Bacele ukuthi baphakamise zombili izingalo. Uma kukhona ubuthakathaka ohlangothini olulodwa (uma belungekho ngaphambili), ingalo eyodwa izophakanyiswa kanti enye izowa.
• S - Inkulumo: Uma umuntu enesifo sohlangothi , uvame ukulahlekelwa ikhono lokukhuluma. Angase angingiza, ahlebe amagama akhe, noma abe nobunzima bokukhetha amagama afanele.
• T - Isikhathi: Isikhathi sibaluleke kakhulu, ngakho ungalibali ukuthola usizo! Uma kungenzeka, bheka iwashi bese ukhumbula isikhathi izimpawu zakho eziqale ngaso. Ukutshela udokotela ukuthi izimpawu zakho ziqale nini kungabasiza banqume ukuthi yikuphi ukwelashwa okungcono kakhulu kuwe.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ubona udokotela, ungabuza imibuzo efana nale:

• Ingabe ngine-Ehlers-Danlos syndrome noma okunye?
• Nginaluphi uhlobo lwe-EDS?
• Hlobo luni lokwelashwa engiludingayo?
• Yiziphi izimpawu noma izinguquko okufanele ngiziqaphele?
• Kukangaki lapho kuzodingeka ngize khona ukuze ngilandelele ukuvakashelwa kwami?
• Uma ngifuna ukuba nezingane, kufanele ngicabangele ukwelulekwa ngofuzo?

I-Ehlers-Danlos syndrome (EDS) yisimo sofuzo esithinta ikhono lakho lokukhiqiza i-collagen, iphrotheni esekela izicubu zakho ezixhumene. Lokhu kungenza isikhumba sakho, amalunga, nezinye izicubu zibe buthaka futhi ziguquguquke kunokujwayelekile. Udokotela wakho angakusiza ukuthola izindlela zokwelapha zokuphatha izimpawu zakho nokuvimbela izinkinga.

Ungesabi ukubuza imibuzo nokukhuluma nodokotela wakho. Izimpawu ze-EDS zingaba zicashile kakhulu, ikakhulukazi ezigabeni zokuqala. Zethembe futhi ulalele umzimba wakho. Uma uzizwa sengathi izimpawu zakho ziyashintsha, noma uma uzizwa sengathi ukwelashwa kwakho akusebenzi, khuluma nodokotela wakho.

Isifinyezo kanye nomyalezo wokuthatha uye ekhaya

Kulungile, manje usuqonda kangcono lokho ebesikhuluma ngakho namuhla, i-Ehlers-Danlos Syndrome (EDS). Khumbula, lesi yisimo sofuzo esenza buthaka izicubu zethu ezixhumene, ikakhulukazi iphrotheni ebizwa ngokuthi i-collagen.

• Izici Eziyinhloko: Amalunga aguquguquka kalula, aqhekeka kalula, abuthakathaka, alimala kalula, isikhumba esinwebekayo, ukuklwebheka njalo, kanye nobuhlungu bamalunga/imisipha yizona ezivame kakhulu.
• Imbangela: Ukuguquka kwezakhi zofuzo.
• Ukwelashwa: Ukuphathwa kwezimpawu kuyisihluthulelo. Ukwelashwa ngokomzimba, ukuvikelwa kwesikhumba, kanye nokugqoka izisekelo uma kudingeka kubalulekile. Ukugwema imisebenzi ethinta kakhulu nakho kuwukuhlakanipha.
• Okubaluleke kakhulu: Uma unalezi zimpawu, noma uma othile emndenini wakho enalesi simo, kubalulekile ukubona udokotela ukuze akunike iseluleko. Ungasheshi ufinyelele eziphethweni ngokwakho.

Ukuphila nalesi simo kungaba yinselele, kodwa ngokuphathwa okufanele kanye neseluleko sezokwelapha, abantu abaningi bangaphila impilo evamile nesebenzayo. Awuwedwa, thola usizo.

I- Ehlers-Danlos Syndrome, izicubu ezixhumeneyo, i-collagen, ukuxega kwamalunga, ukuqina kwesikhumba, izifo zofuzo, i-EDS, ukuhamba kakhulu