Ngaba ukhathazekile ngokuba mfutshane komntwana wakho? Masifunde ngePseudoachondroplasia!

Ngamanye amaxesha unokucinga, 'Owu, umntwana wam mfutshane kancinci kunabanye abantwana, akunjalo?' Okanye ngaba ugqirha ujonge itshathi yokukhula komntwana wakho waza wathi into efana nale, 'Ukuphakama komntwana wakho kuphambene kancinci'? Ngamaxesha anje, unobangela usenokuba yimeko ebizwa ngokuba yi -pseudoachondroplasia, esiza kuthetha ngayo namhlanje. Nangona oku kungabonakala ngathi ligama elikhulu, masithethe ngalo ngokulula.

Kalula nje, yintoni `(Pseudoachondroplasia)`?

I-Pseudoachondroplasia, ngokulula nje, yimeko engaqhelekanga yemfuza echaphazela ukukhula kwamathambo ethu. Yile nto ibangela ukuba abanye abantu babe bafutshane, okanye 'bafutshane' njengoko sikubiza njalo. Ngamanye amaxesha isenokufunyanwa njengelifa, okanye inokwenzeka ngokungacwangciswanga.

Into ebalulekileyo kukuba nangona umntu one-`(Pseudoachondroplasia)` enemilenze emifutshane kuneqhelekileyo, iimpawu zobuso bakhe, ubungakanani bentloko yakhe, kunye nobukrelekrele bakhe ziqhelekile. Oku kuthetha ukuba oku akuchaphazeli ubukrelekrele. Ngoko ke ungakhathazeki ngako.

Kukho amanye amagama alo mba, kwaye kusenokwenzeka ukuba ukhe weva oogqirha besebenzisa la magama:

• `(INdumiso)`
• `(I-Pseudoachondroplastic dysplasia)`
• `(Isifo se-Pseudoachondroplastic spondyloepiphyseal dysplasia)`

La magama onke abhekiselele kwimeko efanayo.

Iza kuba nde kangakanani xa ikule meko?

Uninzi lwexesha, umntwana one-`(Pseudoachondroplasia)` akamfutshane xa ezalwa. Uzalwa eqhelekile. Nangona kunjalo , kumalunga neminyaka emibini kuphela apho aqala ukubonisa ukwehla okuncinci kobude xa kuthelekiswa nabanye abantwana. Oku kuthetha ukuba ubude bomntwana buqala ukurekhodwa njengobufutshane kunabanye abantwana kwiitshathi zokukhula ezisetyenziswa ngoogqirha.

Ekugqibeleni, phantse wonke umntu onesi sifo uza kuba mfutshane kunomndilili. Indoda inokulindela ukuba ibe malunga ne-3 feet 11 inches (1.19 metres) ubude, kwaye umfazi unokulindela ukuba malunga ne-3 feet 9 inches (1.14 metres) ubude .

Yintoni umahluko phakathi kwe-`(Pseudoachondroplasia)` kunye ne-`(Achondroplasia)`?

Usenokuba ukhe weva ngemeko ebizwa ngokuba yi-`(Achondroplasia)`. Le yenye imeko yemfuza ebangela ukufinyela kobude. Ngaphambili, i-`(Pseudoachondroplasia)` kunye ne-`(Achondroplasia)` zazithathwa njengemeko efanayo. Nangona kunjalo, uphando lwakutshanje lubonise ukuba nangona zombini zibangela ukufinyela kobude, ziimeko ezimbini ezahlukeneyo.

I-Achondroplasia ibangelwa kukuguquka kwezakhi zofuzo ezahlukeneyo. Abantu abane-achondroplasia nabo baneempawu zobuso ezahlukileyo. Nangona kunjalo, kwimeko ye-pseudoachondroplasia, esithetha ngayo namhlanje, ezo mpawu zobuso ezahlukileyo azifumaneki.

Ixhaphake kangakanani le meko?

I-Pseudoachondroplasia yimeko engaqhelekanga kakhulu. Ngokutsho kwezazinzulu,Le meko yenzeka kumntwana omnye kwabangama-30,000 okanye umntwana omnye kwabayi-100,000 ozelweyo. Ngoko ke asiyonto ixhaphakileyo.

Kutheni le nto `(Pseudoachondroplasia)` iphuhla? Zithini izizathu?

Isizathu esiphambili soku kukutshintsha kwejini emzimbeni wethu. Ngokuchanekileyo, le meko ibangelwa kukuguquka kwejini `(COMP)` (isishunqulelo se`Cartilage Oligomeric Matrix Protein``).

Ngoku usenokuba uzibuza ukuba yintoni le `(COMP)` gene, yintoni le `(chondrocytes)`. Cinga ngayo nje ngolu hlobo:

Ngaphambi kokuba amathambo akheke emizimbeni yethu, kukho into ebizwa ngokuba yi-cartilage kwezo ndawo. Yithishu eguquguqukayo kancinci efana nerabha. Iiseli ezenza le cartilage zibizwa ngokuba yi -`(chondrocytes)` . I-gene `(COMP)` ibaluleke kakhulu ukuba ezi seli `(chondrocytes)` zisebenze ngokufanelekileyo kwaye zibe sempilweni. Njengokuba udinga izitena ezilungileyo ukwakha indlu, ezi seli `(chondrocytes)` kufuneka zibe sempilweni ukuze amathambo akheke ngokufanelekileyo.

Ngokwesiqhelo, njengoko umntwana ekhula esibelekweni, le cartilage ijika ibe yithambo kancinci kancinci. Nangona kunjalo, i-cartilage ethile ihlala emizimbeni yethu, ingakumbi ukukhusela amalungu nokugubungela iziphelo zamathambo.

Ngoko ke, kumntu one-`(Pseudoachondroplasia)`, ngenxa yotshintsho olukhankanyiweyo kwi-`(COMP)` gene, iiproteni ezingaqhelekanga ziqokelelana ngaphakathi kwezi `(chondrocytes)` zeeseli. Emva koko ezi seli ziyafa ngokukhawuleza. Xa oko kusenzeka, kuvela iingxaki kumalungu, kwaye amathambo awakhuli kakuhle. Yiyo loo nto ukwehla kobude kunye nezinye iingxaki ezinxulumene namathambo kwenzeka.

Olu tshintsho lwe-gene `(COMP)` ngamanye amaxesha lunokudluliselwa kubantwana lusuka kubazali. Oku kuthetha ukuba ukuba umama okanye utata unesi sifo, ngamnye kubantwana bakhe unethuba elimalunga nama-50% lokusifumana njengelifa. Enye into ekhethekileyo kukuba nokuba mnye kuphela kumama okanye kutata onesi sifo, umntwana usenokusifumana.

Kodwa uninzi lwexesha, olu tshintsho lwemfuza lwenzeka ngokungacwangciswanga, oko kukuthi, lwenzeka ngaphandle kwembali yosapho (utshintsho oluzenzekelayo).

Ziziphi iimpawu ezinokubonisa ukuba kukho `(Pseudoachondroplasia)`?

Kwiimeko ezininzi, iimpawu ze-`(Pseudoachondroplasia)` azibonakali xa umntu ezalwa. Njengoko bekutshiwo ngaphambili, iimpawu zobuso, ubungakanani bentloko, kunye nobukrelekrele zonke ziqhelekile. Nangona kunjalo , iingxaki zamathambo ziqala ukubonakala phakathi kweenyanga ezili-9 kunye neminyaka emi-3 ubudala. Ezi mpawu zibonakala ngakumbi ebuntwaneni.

Ekuhambeni kwexesha, unokubona iimpawu ezifana nezi:

• Utshintsho kwimilo yemilenze: Abanye abantwana basenokuba nemilenze egobileyo okanye amadolo angqukuvayo. Ngamanye amaxesha umlenze omnye unokuba kwicala elinye kwaye omnye ube kwicala elinye (ukukhubazeka okubangelwa ngumoya).
• Ukugoba komqolo: Imeko apho umqolo ugoba kwicala elinye (iScoliosis) okanye ugobe phambili (iKyphosis) kunokwenzeka. Oku kunokubangela iintlungu zomqolo kunye nobunzima bokuphefumla.
• Ukuyekelela nokuqina kwamalungu: Amalungu amaninzi (umz., iminwe, izihlathi) anokuba buthathaka kunesiqhelo (ukuyekelela kwamalungu). Nangona kunjalo, amalungu engqiniba kunye nesinqe ngamanye amaxesha anokuba lukhuni kancinci.
• Intlungu yamalungu: Oku kunokubangela i-osteoarthritis ngokuhamba kwexesha. Oku kuthetha ukuba iintlungu zamalungu zinokukhula, ingakumbi njengoko ukhula.
• Ukungazinzi kwentamo: I-Odontoid hypoplasia, imeko apho inxalenye ephezulu yomqolo ingakhuli kakuhle, inokubangela ukungazinzi kwentamo. Le yinto ekufuneka ixhalatyelwe, kuba inokonakalisa imithambo-luvo entanyeni.
• Izandla neminwe emfutshane: Izandla neminwe zisenokuba mfutshane kunesiqhelo.
• Ubufutshane: Olu lolona phawu lubalulekileyo nolucacileyo.
• Ukugoba kwesikhumba: Kwezinye iindawo, ungabona ukugoba okungaphezulu kwesikhumba.
• Utshintsho kwindlela yokuhamba: Ukungaqheleki kwamathambo esinqeni kunokubangela ukuhamba okuhambayo, njengedada, xa uhamba.

Ezi mpawu azifiki kuye wonke umntu ngendlela efanayo. Abanye abantu basenokuba neempawu ezithile kuphela, ngelixa abanye banokuba nazo ezininzi. Ziyahluka ukusuka kumntu ukuya komnye.

Oogqirha bayixilonga njani le meko (i-Pseudoachondroplasia)?

Ugqirha unokuxilonga i-pseudoachondroplasia ngokuyintloko ngokuhlola umntwana aze athathe ii-X-ray ukujonga imeko yamathambo kunye namalungu. Ii-X-ray zinokubona ngokucacileyo ukuma nokukhula kwamathambo, kunye naluphi na utshintsho olukhethekileyo kwiziphelo zamathambo.

Ukongeza, uvavanyo lwemfuza lunokwenziwa ukuqinisekisa ukuba utshintsho lwemfuza (kwi-COMP gene) olubangela le meko lukhona na. Oku kudla ngokubandakanya ukuthatha isampuli yegazi.

Ukuba kukho umntu kusapho one-`(Pseudoachondroplasia)`, oko kukuthi, ukuba ukwintsapho enomngcipheko omkhulu wokufumana le meko, uvavanyo lwemfuza lunokwenziwa ngexesha lesigaba somntwana osandul' ukuzalwa. Oko kukuthi, ngelixa umntwana esesesibelekweni. Oku kwenziwa kusetyenziswa iindlela zovavanyo ezibizwa ngokuba yi -`(Chorionic Villus Sampling)` okanye `(Amniocentesis) `. Ezi ziimvavanyo ezenziwa kuphela xa kuyimfuneko, ngokweengcebiso zoogqirha abaziingcali.

Ziziphi iindlela zonyango zesifo `(Pseudoachondroplasia)`?

Unyango lwe-pseudoachondroplasia luxhomekeke kubukhali bemeko kunye nempilo yakho iyonke. Ngamanye amaxesha, akufuneki nyango luthile, kufuneka nje ukubekwa esweni rhoqo ukuze kubonwe ukuba iingxaki ziyavela na. Nangona kunjalo, abanye abantu bayalufuna unyango. Unyango lungabandakanya:

• Iintlungu: Iintlungu ezifana ne- "Analgesics" zinokunikwa ukunciphisa iintlungu zamalungu.
• Ukulungiswa kokugoba komqolo:Ukuba kukho ukugoba komqolo (i-scoliosis, i-kyphosis), banokunikwa inkxaso ekhethekileyo (ii-braces) ukuze bazinxibe, okanye banokulungiswa ngotyando.
• Ingcebiso: Kubaluleke kakhulu ukufuna ingcebiso ukuze kujongwane nemiphumo yengqondo yokukhula kancinci. Oku kubalulekile kumntwana nakubazali.
• Ingcebiso ngezofuzo: Ekubeni le meko inokuchaphazela namanye amalungu osapho, licebo elihle ukubacela ingcebiso ngezofuzo. Oku kuya kunceda ekucwangciseni usapho kwixesha elizayo.
• Unyango lomzimba kunye nonyango lomsebenzi: Unyango lomzimba kunye nonyango lomsebenzi lunokukunceda uphucule amandla akho, ugcine ukuguquguquka kwamalungu, kwaye wenze imisebenzi yemihla ngemihla ngokulula.
• Utyando lweengxaki zamathambo namalungu: Olunye utyando olunxulumene namalungu, olufana nokufakelwa kwesinqe kunye ne -osteotomy yedolo, lunokufuneka. Olu tyando lunokunciphisa iintlungu kwaye luphucule ukusebenza kwamalungu.
• Utyando lokuzinzisa umqolo nentamo: Ukuba kukho ukungazinzi entanyeni nasemgogodleni, ukuhlanganiswa kotyando kungenziwa ukuze kuzinziswe amathambo amabini okanye ngaphezulu ngokuwadibanisa kunye.

Asinguye wonke umntu odinga olu nyango ngendlela efanayo. Iqela lakho lezonyango liza kugqiba ngesicwangciso sonyango esilungele wena.

Liza kuba njani ikamva kumntu one-`(Pseudoachondroplasia)`?

Le yingcinga ethuthuzelayo kwabaninzi. Le meko `(Pseudoachondroplasia)` ayichaphazeli uphuhliso lwakho lwengqondo okanye ubomi bakho bonke. Abantu abane `(Pseudoachondroplasia)` badla ngokuphila ubomi obusebenzayo nobunemveliso. Abaninzi baphila ubomi babo beentsapho. Ngoko ke akukho nto inokubangela ixhala ngayo. Eyona nto iphambili kukubona iingxaki ezinokubakho kwangethuba kwaye uzinyange ngokufanelekileyo.

Ngaba ikho indlela yokuthintela le meko?

Ekubeni i-pseudoachondroplasia ibangelwa kukuguquka kwezakhi zofuzo, akukho ndlela yokuyithintela ngokupheleleyo.

Ukuba unale meko, ukuba ukhulelwe, kukho amathuba angama-50% okuba umntwana wakho azuze esi sizukulwana. Njengoko bekutshiwo ngaphambili, uvavanyo lwemfuza ngaphambi kokukhulelwa lunokufumanisa olu tshintsho lwemfuza. Ugqirha wakho unokucebisa ukuba amalungu osapho asondeleyo afumane iingcebiso ngemfuza.

Uzinyamekela njani wena nomntwana wakho nge-`(Pseudoachondroplasia)`?

Ukuba wena okanye umntwana wakho une-pseudoachondroplasia, ningazinyamekela kakuhle ngokuthi:

• Uvavanyo lwezonyango olucwangcisiweyo:Yiya kuzo zonke iimvavanyo zokulandelela ezicetyiswe ngugqirha wakho. Oku kuya kukunceda ukuba ujonge impilo yakho kwaye uchonge naziphi na iingxaki ngokukhawuleza.
• Ziphephe izinto eziyingozi kumalungu: Ziphephe izinto ezibangela intlungu kwaye ubeke uxinzelelo olungeyomfuneko kumalungu kangangoko unako. Umzekelo, imidlalo edibanisayo kunye nemidlalo equka ukutsiba kakhulu ayifanelekanga.
• Lumka intamo yakho: Kuphephe ukugoba intamo yakho kakhulu, kuba oku kunokwandisa iingxaki zomqolo. Kufuneka ulumke kakhulu ngale nto ukuba une-`(Odontoid hypoplasia)`.
• Ukuzilolonga okunobuhlobo nokudibana: Gxila kwimithambo ebeka uxinzelelo oluncinci emathanjeni nasemalungeni akho. Izinto ezifana nokuhamba nokudada zilungile. Ezi ziqinisa amalungu akho kwaye zinciphisa iintlungu.

Ukunyamekela ezi zinto kunokwenza ubomi bube lula kakhulu.

Ungamnceda njani umntwana one-`(Pseudoachondroplasia)` ukuba ajongane nale meko?

Abanye abantwana banokuziva beneentloni kwaye beneentloni ngenxa yotshintsho olubonakalayo, njengobude obufutshane. Oku kunokuchaphazela nolwalamano lwabo nabantu. Nazi ezinye izinto onokuzenza ukunceda umntwana wakho ajongane nale meko:

• Bona umcebisi wezempilo yengqondo : Cinga ngokubona umcebisi wezempilo yengqondo ukuze ancede umntwana wakho aqonde kwaye alawule iimvakalelo zakhe.
• Thetha ngokukhululekileyo nomntwana wakho: Thetha ngokukhululekileyo nomntwana wakho ngale meko ngolwimi olulula abanokuluqonda. Phendula imibuzo yakhe ngomonde. Thetha izinto ezinje, "Wahlukile kancinci kwabanye, kodwa uxabiseke kakhulu."
• Yazisa abantu ukuba umntwana uhlala ekhona: Yingcamango elungileyo ukwazisa abantu ukuba umntwana uhlala ekho, njengootitshala besikolo, abahlobo, kunye nezalamane, ngale meko. Emva koko banokuqonda baze bancede.
• Joyina amaqela enkxaso: Ukuba kukho amaqela enkxaso okanye imibutho yokuxhasa ilizwe apho unokudibana nezinye iintsapho kwiimeko ezifanayo, ukujoyina nawo kunokuba ngumthombo omkhulu wamandla. Kuninzi onokukufunda kumava abanye abantu.
• Inkxaso esikolweni: Fumana isicwangciso sokusebenzisana kootitshala ukuze umntwana afunde kakuhle aze asebenzisane nabanye esikolweni ngaphandle kokuxhaphaza. Mhlawumbi ungalungiselela izinto ezifana nesitulo seklasi kunye nedesika ukuze kube lula kumntwana.
• Ziqhelise ukuphendula imibuzo: Thetha nomntwana wakho ngendlela yokuphendula imibuzo xa umntu ebuza. Umzekelo, ungaziqhelisa ukuthetha into elula nemfutshane, njengokuthi, "Ndazalwa ndinemeko apho amathambo am ayeka ukukhula."

Khumbula, uthando lwakho, inkxaso yakho, kunye nokuqonda kwakho zezona zinto zinamandla amakhulu umntwana wakho aya kuba nazo ukuze aphile kamnandi kule meko.Zixabise izakhono zabo kwaye ubakhuthaze.

Ngoko ke, zeziphi izinto ezibalulekileyo esifanele sizithathele ekhaya kweli bali? (Umyalezo Wokubuyela Ekhaya)

Kulungile, sithethe kakhulu nge-`(Pseudoachondroplasia)` ngoku, akunjalo? Nazi izinto ezilula ekufuneka uzikhumbule:

• I-Pseudoachondroplasia yimeko yemfuza echaphazela ukukhula kwamathambo, nto leyo ebangela ukuba amathambo abe mafutshane.
• Oku akuchaphazeli ubukrelekrele okanye ubomi bomntu.
• Iimpawu ezinje ngemilenze emifutshane, iintlungu zamalungu, kunye nokugoba komqolo zinokubonakala.
• Oku kunokuqinisekiswa ngovavanyo lwezonyango, ii-X-ray, kunye novavanyo lwemfuza.
• Kukho unyango olufumanekayo. Iingxaki zingalawulwa ngezinto ezifana neepilisi zokuthomalalisa iintlungu, unyango lomzimba, kwaye, ukuba kuyimfuneko, utyando.
• Nangona le meko ingenakuthintelwa, ukuqatshelwa kwangoko kunye nolawulo olufanelekileyo kunokukunceda uphile ubomi obusempilweni nobusebenzayo.
• Ukuba umntwana unale meko, eyona nto ibalulekileyo kukumbonisa uthando, inkxaso, nokuqonda. Mnike amandla awadingayo ukuze asebenze kakuhle eluntwini.

Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho wosapho okanye ingcali yamathambo. Baya kukwazi ukukunceda ngakumbi.

I- Pseudoachondroplasia, ukufutshane komzimba, ubufutshane, ukukhula kwamathambo, izifo zemfuza, i-COMP gene, iintlungu zamalungu