Ingabe ukhathazekile kancane ngobude bengane yakho? Ake sixoxe nge-dwarfism (i-Dwarfism / i-Skeletal Dysplasia) kanye nezinye izimbangela zokufushane kwesikhumba

Ingabe ingane yakho imfushane kancane kunezinye izingane? Noma ucabanga ukuthi izitho zayo zomzimba zimfushane uma ziqhathaniswa nezinye izingxenye zomzimba wayo? Ngezinye izikhathi lokhu kungaba okuvamile. Kodwa-ke, ngezinye izikhathi kungaba izimpawu zesimo sezokwelapha. Namuhla sizokhuluma ngesimo esinjalo, ukufiphala , noma ngokwezokwelapha , i-skeletal dysplasia, kanye nezinye izimbangela zobude obufushane. Ungakhathazeki, kubaluleke kakhulu ukuqaphela lokhu.

Kalula nje, kuyini ukuba mfushane?

I-dwarfism, noma lokho esikubiza ngokuthi i-Skeletal Dysplasia , akuyona into eyodwa ngempela. Yigama lezokwelapha elivamile elihlanganisa amakhulu ezimo ezithinta ukukhula kwamathambo kanye ne-cartilage. Lezi zimo ikakhulukazi ziholela ekunciphiseni ukuphakama komuntu, noma ukufinyela kwakhe. Ngokuvamile, umuntu onalesi simo ungaphansi kwamamitha angu-1.47 ubude njengomuntu omdala.

Abanye abantu bathanda ukusebenzisa igama elithi "abantu abancane" ukuchaza abantu abanalesi simo. Kodwa-ke, ukusebenzisa amagama anjengelithi "ama-midgets" akufaneleki nhlobo, ngoba kungalimaza imizwa yabo.

Kunezinhlobo ezahlukene ze-dwarfism. Lezi zimo zingathinta ukukhula kwamathambo ezingxenyeni ezahlukene zomzimba wethu, ikakhulukazi izingalo, imilenze, isisu kanye nekhanda.

Yiziphi izinhlobo ezivame kakhulu ze-skeletal dysplasia?

Kunezinhlobo eziningi ze-dwarfism ezithinta ukukhula kwamathambo. Nazi ezimbalwa zazo:

• I-Achondroplastic dwarfism: Lolu uhlobo oluvame kakhulu lwe-dwarfism. Izingalo ezimfushane kanye nebunzi elivelele yizona zinto eziyinhloko.
• I-Hypochondroplasia dwarfism: Lolu futhi uhlobo oluncane lwe-dwarfism olunemilenze emifushane. Kodwa-ke, izimpawu zalo azibonakali kangako ebuntwaneni.
• Ukufiphala kwe-pituitary: Lokhu kubangelwa ukuntuleka kwe-hormone yokukhula .
• I-Primordial dwarfism: Kulolu hlobo, umzimba mncane kusukela ngaphambi kokuzalwa nakuzo zonke izigaba zokuphila.
• I-Thanatophoric dysplasia: Lolu uhlobo olungavamile nolunzima kakhulu lwe-dwarfism. Kulesi simo, izitho zomzimba zimfushane kakhulu kanti isifuba sincane kakhulu. Izingane ezinalesi simo zivame ukufa zingakapheli izinsuku ezimbalwa zizelwe ngenxa yezinkinga zokuphefumula.

Cabanga ngale ndlela: amathambo emzimbeni wethu afana nezinsika ezisetshenziselwa ukwakha indlu. Uma kukhona ushintsho ekukhuleni kwalezi zinsika, kunjengokungathi ukuma nokuphakama kwendlu yonke kuyashintsha.

Kusho ukuthini ngempela ukuthi "Isimo Esifushane"?

Igama elithi "ubude obufushane" libhekisela kumuntu omfushane kunalokho obekulindelwe uma eqhathaniswa nabanye abaneminyaka efanayo.Ezinganeni ezincane, lokhu kungasho ukuthi ukuphakama kwazo kungaphansi kwezikhathi zokukhula ezijwayelekile, noma ukuthi zingaphansi kokuphakama okulindelekile ngokusekelwe ekuphakameni kwabazali bazo.

Ukuphakama komuntu (noma ubude bakhe uma kuyingane) kunqunywa yizici eziningana. Lokhu kufaka phakathi izinto ezifana nokuphakama kwabazali, isisindo sabo, kanye namazinga ama-hormone. Ukufiphala kobude kungabangelwa yizimo eziningana zofuzo.

Ubani othinteka kakhulu yi-dwarfism?

I-Skeletal Dysplasia ingathinta noma ubani. Ezinye izinhlobo zayo ziyizakhi zofuzo . Lokho kusho ukuthi zingazuzwa kubazali. Ezinye izinhlobo zibangelwa izinguquko ze-DNA ezingahleliwe. Ngokuvamile, kodwa hhayi njalo, izingane ezine-dwarfism zizalwa abazali abanobude obujwayelekile.

Sivame kangakanani lesi simo?

I-Skeletal Dysplasia yisimo esingavamile. Uhlobo oluvame kakhulu, i-achondroplasia, luthinta umuntu oyedwa kubantu abayi-15,000 kuya kwabangu-40,000.

Ubufushane buwuthinta kanjani umzimba wakho?

I-Skeletal Dysplasia ithinta ukukhula kwamathambo akho . Amathambo amade ezingalweni nasemilenzeni yakho avame ukuthinteka. Kodwa-ke, amanye amathambo, okuhlanganisa nalawo asesiswini nasekhanda lakho, nawo angathinteka. Izimpawu zokufiphala zingathinta ezinye izingxenye zomzimba wakho. Kungaholela nasezinkingeni zempilo zesikhathi eside, njengobuthakathaka bemisipha noma izifo ezivame ukutheleleka .

Ziyini izimpawu ze-dwarfism?

Uphawu oluyinhloko noluvame kakhulu lwe-skeletal dysplasia ubude obufushane. Umuntu onalesi simo ngokuvamile uba ngaphansi kwamamitha angu-1.47 ubude njengomuntu omdala. Lobu bude obufushane bubonakala kakhulu kubantu abadala nakubantu abadala kunasebuntwaneni.

Izimbangela eziningi zobukhulu obufushane ziyalingana . Okusho ukuthi, umzimba wonke mufushane, hhayi ingxenye eyodwa kuphela. Kodwa-ke, kwezinye izinhlobo zobufushane, lobu bukhulu obufushane abulingani . Okusho ukuthi, isiqu sinobukhulu obujwayelekile kodwa izingalo nemilenze kufushane.

Ezinye izimpawu ze-dwarfism zingafaka:

• Imilenze egobile.
• Ibhuloho eliyisicaba lekhala (ingxenye enamathambo phezulu kwekhala).
• Ikhanda elikhulu.
• Ibunzi elivelele.
• Izingalo nemilenze emifushane.
• Iminwe nezinzwane ezimfushane.
• Izandla nezinyawo ezibanzi.

Ngezinye izikhathi, ukukhula kwamathambo okungavamile kungabangela ezinye izinkinga zempilo ngaphezu kwalezi zimpawu. Isibonelo:

• Ukunqwabelana koketshezi oluzungeze ubuchopho (i-Hydrocephalus).
• Imizwa ecindezelwe.
• I-Scoliosis.
• Ukutheleleka kwendlebe noma izinkinga zokuzwa.
• Ubuhlungu emadolweni naseqakaleni.
• Ukuphefumula komoya.

Ziyini izimbangela zobudwa?

I-Skeletal Dysplasia ingaba nezimbangela eziningana. Ngokuvamile, ibangelwa ushintsho ku-DNA yomuntu (ukuguqulwa kwezakhi zofuzo) . Kodwa-ke, imbangela eqondile yezinye izinhlobo ayikaziwa.

Kunezizathu eziningana eziyinhloko:

• Umlando womndeni: Uma abazali namanye amalungu omndeni bemfushane, kungase kube yinto evamile ukuthi ingane nayo ibe mfushane.
• Ukuguquka kwezakhi zofuzo: Izinguquko ezenzeka ku-DNA yomuntu.
• Ukuntuleka kwe-hormone yokukhula: Ubuchopho abukhiqizi i-hormone eyanele edingekayo ekukhuleni kwamathambo.
• Ukuqhakaza sekwephuzile / ukubambezeleka ngokomthetho: Ezinye izingane zikhula zinde kakhulu kunontanga yazo. Ngezinye izikhathi amanye amalungu omndeni nawo angase abe nale ndlela yokukhula.
• Ukungondleki: Ukungatholi ukudla okwanele kungathinta ukukhula kwengane.
• Zincane ngesikhathi sokukhulelwa: Iningi lezingane ezincane ngesikhathi sokuzalwa zizokhula ngendlela evamile zingakapheli iminyaka emibili kuya kwemithathu, kodwa cishe u-10% awenzi kanjalo.

Ingabe ubudwayi bubangelwa izakhi zofuzo?

Yebo, ezinye izinhlobo ze-dwarfism (ezibangelwa yi-Skeletal Dysplasia) ziyizakhi zofuzo. Okusho ukuthi, zibangelwa ushintsho ku-DNA. Ezimweni eziningi, lokhu kuguquka kwezakhi zofuzo kuyinto eyenzeka ngokungahleliwe, hhayi into ezuzwe kubazali abafushane. Okusho ukuthi, iningi lezingane ezine-dwarfism zinabazali abanobude obujwayelekile.

Kodwa-ke, uma omunye noma bobabili abazali benesifo sofuba, ingane inamathuba amaningi okuthola lesi simo njengefa. Kuye ngohlobo lwesifo sofuba. Isibonelo, uma umama noma ubaba ene-achondroplasia, ingane inethuba elingu-50% lokuthola lesi simo njengefa. Uma bobabili abazali bene-achondroplasia, ingane inethuba elingu-25% lokuba nohlobo olubi lwesifo sofuba olubizwa ngokuthi i-homozygous achondroplasia (lapho ingane izalwa ifile noma ishone ngemuva nje kokuzalwa) kanye nethuba elingu-50% lokuba ne-achondroplasia evamile.

Uma uhlela ukukhulelwa futhi ufuna ukwazi ingozi yokuthi ingane yakho ibe nesimo esizuzwe njengefa, njenge-achondroplasia noma olunye uhlobo lwe-dwarfism, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo .

Ungayibona kanjani i-dwarfism?

Kwezinye izimo, odokotela bangathola i-skeletal dysplasia ngaphambi kokuba umntwana azalwe. Ngesikhathi sokukhulelwa, odokotela basebenzisa izivivinyo zokuhlolwa kokukhulelwa ukuze bathole noma yikuphi ukukhubazeka ekukhuleni komntwana.

Ngemva kokuzalwa kwengane, udokotela uzoqapha ukukhula kwengane ngesikhathi sokuvakasha kwempilo kwaminyaka yonke. Uma ukungaboni kahle kungatholakali lapho izalwa, uma ingane iphuthelwa yizigaba zokukhula , kungaba uphawu lwesimo futhi kungabonakala kamuva. Ukuhlolwa okwengeziwe, njenge- X-ray kanye nokuhlolwa kwegazi, kungasiza udokotela ukuthola ukuthi kungani ingane ingakhuli ngesivinini esijwayelekile. Lena yindlela okuxilongwa ngayo.

Yiziphi izindlela zokwelapha ubu-dwarfism?

Ngenxa yokuthi ayikho ikhambi eliqondile le-skeletal dysplasia, ukwelashwa kuhloselwe ukulawula izimpawu, ezihlukile kumuntu ngamunye kanye nokuxilongwa.

Ukwelashwa kokuhlinzwa ukulawula izimpawu kungafaka:

• Ukuhlinzwa ukulungisa ukuma kwamathambo noma amathambo akhula ngendlela engavamile.
• Ukususa uketshezi oluningi oluqongeleleke ebuchosheni (ukuhlinzwa kwe-hydrocephalus).
• Ukuhlinzwa ukuze kuncishiswe ingcindezi esiqwini sobuchopho (ingxenye yobuchopho exhumanisa nomgogodla).
• Ukuhlinzwa kokususa amathonsi kanye/noma ama-adenoid ukuze kube lula ukuphefumula.
• Ukufaka amapayipi endlebeni ukuvimbela izifo zendlebe.

Ezinye izindlela zokwelapha ezingezona ezokuhlinzwa zifaka:

• Ukusebenzisa umshini we-CPAP (Continuous Positive Airway Pressure) ukwelapha i-sleep apnea .
• Ukusebenzisa izinsiza zokuzwa ukuthuthukisa ukuzwa.
• Khuthaza imikhuba yokudla okunempilo kanye nokuzivocavoca ukuze uvimbele ukukhuluphala ngokweqile noma ukukhuluphala ngokweqile (i-BMI engama-30 noma ngaphezulu).
• Ukunikeza i-hormone yokukhula (ukwelashwa ngama-hormone) njengokwelashwa kokuntuleka kwama-hormone okukhula.
• Ngo-2021, i-US Food and Drug Administration yavuma ukuthi umuthi i -Vosoritide (Voxzogo®) usetshenziswe ezinganeni ezingaphezu kweminyaka emi-5 ubudala ezine-achondroplasia lapho ama-bone plate okukhula kwawo engakavalwa (okungukuthi, ukukhula kwawo akukapheli). Esivivinyweni somtholampilo, umuthi i-Vosoritide wasiza izingane ukuba zikhule ngokushesha.

Khumbula, lezi zindlela zokwelapha zingadingeka impilo yonke, kodwa zingayithuthukisa kakhulu ikhwalithi yokuphila komuntu.

Ngingayinciphisa kanjani ingozi yengane yami yokuba mfushane?

Ngenxa yokuthi ezinye izinhlobo ze-skeletal dysplasia ziyizakhi zofuzo, ayikho indlela yokuvimbela lesi simo ngaphandle kokuthi udokotela enze ukuhlolwa, njengokuhlolwa kwezakhi zofuzo ngaphambi kokufakelwa . Kungcono ukubonisana nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ukuze uthole ukuthi iyini ngempela ingozi yengane yakho yesimo sezakhi zofuzo esifana ne-dwarfism.

Ukudla okunempilo kokukhula kwenganeLokho okushoyo kubaluleke kakhulu. Uma ukhulelwe, qiniseka ukuthi udla ukudla okulinganiselayo. Ngisho nangemva kokuzalwa komntwana, udinga ukumnika ukudla okunempilo okuhlukahlukene okuhambisana nobudala bakhe, njengeprotheni, izithelo, okusanhlamvu, nemifino. Ngaleyo ndlela, uzothola zonke izakhamzimba azidingayo ukuze akhule.

Yini ongayilindela uma unengane enesifo sokufiphala?

Nakuba kungekho ukwelashwa okuqondile kwe-skeletal dysplasia, abantu abaningi abafushane baphila impilo ejwayelekile kanye nempilo enhle ngokwelashwa ukulawula izimpawu zabo. Kodwa-ke, ezinye zezimpawu zalesi simo zingaba yinselele enganeni nasemndenini, ikakhulukazi uma ukukhula kwamathambo okungavamile kudinga ukuhlinzwa kaningi. Udokotela wakho uzosebenzisana nawe kanye nengane yakho ukuze anikeze ukwelashwa ingane yakho ekudingayo ukuze iphile impilo egcwele nenempilo.

Ingakanani iminyaka yokuphila komuntu onesifo sokufiphala?

Ezinhlotsheni eziningi ze-dwarfism, isikhathi sokuphila esijwayelekile singalindelwa ngokwelashwa ukulawula izimpawu. Kodwa-ke, ngeshwa, kwezinye izinhlobo, isikhathi sokuphila singafinyezwa.

Ngingamnakekela kanjani umntwana wami one-skeletal dysplasia?

Ngaphezu kokuhlangabezana nezidingo zezokwelapha zengane yakho, ungayisekela ingane yakho ngokwenza izinto ezilandelayo, udale indawo eyamukelayo ekhaya futhi evumela ukuthi ihlanganyele kukho konke:

• Ukususa izithiyo zomzimba ekhaya ukuze ingane ikwazi ukusebenza yodwa (isibonelo, ukuba nesihlalo, ukwehlisa iswishi yokukhanyisa).
• Ukunikeza ukwesekwa kwezemfundo kanye/noma kwengqondo ukuvimbela noma ukubhekana nokuxhashazwa abanye abantwana esikoleni.
• Futhi, ukuxhumana nezinhlangano ezisiza izingane ngokuxilongwa.

Njengabazali, kufanele siphathe izingane zethu ngokweminyaka yazo, hhayi ngobude bazo. Lokhu kubaluleke kakhulu.

Yimiphi imibuzo okufanele uyibuze udokotela?

Uma ingane yakho inalesi simo, ungabuza udokotela imibuzo efana nale:

• Ingabe ukuhlinzwa kuyadingeka ukuze kwelashwe izimpawu zengane yami?
• Ngingamsiza kanjani ingane yami ukuvimbela izifo zendlebe?
• Ingabe ikhona imiphumela emibi ekwelashweni okukhuthazayo?
• Ingane yami idinga isikhathi esingakanani ukuthatha ama-hormone okukhula?

Okokugcina, izinto okufanele uzikhumbule

Ngisho noma ingane yakho itholakale ine-Skeletal Dysplasia futhi idinga ukuhlinzwa noma ukwelashwa kwesikhathi eside ukuze ilawule izimpawu zayo, akusho ukuthi ayikwazi ukuphila impilo egcwele nenenjongo. Njengomzali noma umnakekeli, kufanele uphathe ingane yakho ngokweminyaka yayo, hhayi ngobude bayo. Lokhu kuzosiza ingane yakho ukuba ithuthukise ukuzethemba kwayo futhi izizwe yamukelekile futhi ithandwa.

Uma ungumuntu omdala onesifo sokuwohloka komqondo, ukuba neqembu elihle lokusekelana, ukulawula izimpawu zakho, nokuphila ngendlela enempilo kungakusiza ukuthi uphile impilo egcwele futhi esebenzayo.

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