Ingaba ukhathazekile kancinci malunga nobude bomntwana wakho? Masithethe nge-dwarfism (i-Dwarfism / i-Skeletal Dysplasia) kunye nezinye izizathu zobude obufutshane.

Ngaba umntwana wakho mfutshane kancinci kunabanye abantwana? Okanye ucinga ukuba amalungu akhe mafutshane xa ethelekiswa nomzimba wakhe wonke? Ngamanye amaxesha ezi zinokuba zizinto eziqhelekileyo. Nangona kunjalo, ngamanye amaxesha zinokuba ziimpawu zesifo. Namhlanje siza kuthetha ngemeko enjalo, i-dwarfism , okanye ngokwezonyango , i-skeletal dysplasia, kunye nezinye izizathu zobude obufutshane. Ungakhathazeki, kubaluleke kakhulu ukuqaphela oku.

Ngamafutshane, yintoni i-dwarfism?

I-dwarfism, okanye into esiyibiza ngokuba yi-Skeletal Dysplasia , ayisiyonto inye. Ligama lezonyango eliqhelekileyo eliquka amakhulu eemeko ezichaphazela uphuhliso lwamathambo kunye ne-cartilage. Ezi meko zibangela ukuba ubude bomntu bunciphe, okanye bube bufutshane. Ngokwesiqhelo, umntu onesi sifo ungaphantsi kweenyawo ezi-4 kunye nee-intshi ezili-10 (iimitha ezili-1.47) ubude xa emdala.

Abanye abantu bathanda ukusebenzisa igama elithi "abantu abancinci" ukuchaza abantu abanale meko. Nangona kunjalo, ukusebenzisa amagama anje "ii-midgets" akufanelekanga konke konke, kuba kunokubangela intlungu kwiimvakalelo zabo.

Kukho iintlobo ezahlukeneyo ze-dwarfism. Ezi meko zinokuchaphazela ukukhula kwamathambo kwiindawo ezahlukeneyo zomzimba wethu, ingakumbi iingalo, imilenze, isisu, kunye nentloko.

Ziziphi iintlobo eziqhelekileyo ze-skeletal dysplasia?

Kukho amakhulu eentlobo ze-dwarfism ezichaphazela ukukhula kwamathambo. Nazi ezimbalwa zazo:

• I-Achondroplastic dwarfism: Olu lolona hlobo luqhelekileyo lwe-dwarfism. Imilenze emifutshane kunye nebunzi elibonakalayo zezona mpawu ziphambili.
• I-Hypochondroplasia dwarfism: Olu luhlobo oluncinci lwe-dwarfism olunemilenze emifutshane. Nangona kunjalo, iimpawu zalo azibonakali kangako ebuntwaneni.
• I-pituitary dwarfism: Oku kubangelwa kukungabikho kwehomoni yokukhula .
• I-Primordial dwarfism: Kolu hlobo, umzimba mncinane ukususela ngaphambi kokuzalwa nakuwo onke amanqanaba obomi.
• I-Thanatophoric dysplasia: Olu luhlobo olungaqhelekanga nolunzima kakhulu lwe-dwarfism. Kule meko, amalungu omzimba mafutshane kakhulu kwaye isifuba sincinci kakhulu. Iintsana ezinale meko zihlala zifa kwiintsuku ezimbalwa emva kokuzalwa ngenxa yeengxaki zokuphefumla.

Cinga ngale ndlela: amathambo emizimbeni yethu afana neensika ezisetyenziselwa ukwakha indlu. Ukuba kukho utshintsho ekukhuleni kwezi ntsika, kuba ngathi imo nokuphakama kwendlu yonke kuyatshintsha.

Ithetha ukuthini kanye kanye "iSimo esifutshane"?

Igama elithi "ubude obufutshane" libhekisa kumntu omfutshane kunokuba bekulindelwe xa kuthelekiswa nabanye abaneminyaka efanayo.Kubantwana abancinci, oku kunokuthetha ukuba ubude babo bungaphantsi kwemilinganiselo yokukhula eqhelekileyo, okanye ukuba bangaphantsi kobude obulindelekileyo ngokusekelwe kubude babazali babo.

Ukuphakama komntu (okanye ubude bakhe xa kuziwa kumntwana) kuxhomekeka kwizinto ezahlukeneyo. Ezi ziquka izinto ezifana nokuphakama kwabazali, ubunzima babo, kunye namanqanaba eehomoni. Ubunzima bomzimba bunokubangelwa ziimeko ezininzi zemfuza.

Ngubani ochaphazeleka kakhulu yi-dwarfism?

I-Skeletal Dysplasia inokuchaphazela nabani na. Ezinye iintlobo zayo ziyimfuza . Oko kuthetha ukuba zinokufunyanwa kubazali. Ezinye iintlobo zibangelwa lutshintsho lwe-DNA olungaqhelekanga. Rhoqo, kodwa hayi rhoqo, abantwana abane-dwarfism bazalwa ngabazali abanobude obuqhelekileyo.

Ixhaphake kangakanani le meko?

I-Skeletal Dysplasia yimeko engaqhelekanga. Uhlobo oluqhelekileyo, i-achondroplasia, luchaphazela umntu omnye kubantu abayi-15,000 ukuya kuma-40,000.

I-dwarfism iwuchaphazela njani umzimba wakho?

I-Skeletal Dysplasia ichaphazela ukukhula kwamathambo akho . Amathambo amade ezingalweni nasemilenzeni yakho achaphazeleka kakhulu. Nangona kunjalo, amanye amathambo, kuquka lawo asesiswini nasentloko, nawo anokuchaphazeleka. Iimpawu ze-dwarfism zinokuchaphazela amanye amalungu omzimba wakho. Ingakhokelela nakwiingxaki zempilo ezinde, ezifana nobuthathaka bemisipha okanye usulelo oluqhelekileyo .

Zithini iimpawu ze-dwarfism?

Uphawu oluphambili noluqhelekileyo lwe-skeletal dysplasia kukufutshane. Umntu onesi sifo uhlala engaphantsi kwe-4 feet 10 inches (1.47 metres) ubude xa emdala. Olu futshane lubonakala ngakumbi kubantu abadala nakubantu abadala kunasebuntwaneni.

Uninzi lwezizathu zokuba nomzimba omfutshane zizinto ezilinganayo . Oko kukuthi, umzimba wonke mfutshane, kungekhona nje inxalenye enye. Nangona kunjalo, kwezinye iintlobo zobude obufutshane, obu bude bufutshane abulingani . Oko kukuthi, umzimba unobukhulu obuqhelekileyo kodwa iingalo nemilenze zimfutshane.

Ezinye iimpawu ze-dwarfism zingabandakanya:

• Imilenze egobileyo.
• Ibhulorho yempumlo ethe tyaba (inxalenye enamathambo phezulu kwempumlo).
• Intloko enkulu.
• Ibunzi elibonakalayo.
• Iingalo nemilenze emifutshane.
• Iminwe neenzwane ezimfutshane.
• Izandla neenyawo ezibanzi.

Ngamanye amaxesha, ukukhula okungaqhelekanga kwamathambo kunokubangela ezinye iingxaki zempilo ukongeza kwezi mpawu. Umzekelo:

• Ukuqokelelana kolwelo olujikeleze ingqondo (iHydrocephalus).
• Imithambo-luvo ecinezelweyo.
• I-Scoliosis.
• Iintsholongwane zendlebe okanye iingxaki zokuva.
• Intlungu yedolo neqatha.
• Ukuphelelwa ngamandla xa ulele.

Zithini izizathu zokuba umntu abe mfutshane?

I-Skeletal Dysplasia inokuba nezizathu ezininzi. Ngokuqhelekileyo, ibangelwa kukutshintsha kwe-DNA yomntu (ukuguqulwa kwezakhi zofuzo) . Nangona kunjalo, imbangela echanekileyo yezinye iintlobo ayikaziwa.

Kukho izizathu ezininzi eziphambili:

• Imbali yosapho: Ukuba abazali kunye namanye amalungu osapho bafutshane, kusenokuba yinto eqhelekileyo ukuba nomntwana abe mfutshane.
• Uguquko lwemfuza: Utshintsho olwenzeka kwi-DNA yomntu.
• Ukungabikho kwehomoni yokukhula: Ingqondo ayivelisi ngokwaneleyo ihomoni efunekayo ekukhuleni kwamathambo.
• Ukuhluma emva kwexesha / ukulibaziseka ngokomgaqo: Abanye abantwana bakhula emva kwexesha kunontanga yabo. Ngamanye amaxesha amanye amalungu osapho anokuba nale ndlela yokukhula.
• Ukungondleki: Ukungafumani ukutya okwaneleyo kunokuchaphazela ukukhula komntwana.
• Zincinci xa zikhulelwe: Uninzi lweentsana ezincinci xa zizalwa ziya kufikelela ekukhuleni okuqhelekileyo kwiminyaka emibini ukuya kwemithathu, kodwa malunga ne-10% azifikeleli ekukhuleni okuqhelekileyo.

Ngaba ubudwarha bubangelwa yimfuza?

Ewe, ezinye iintlobo ze-dwarfism (ezibangelwa yi-Skeletal Dysplasia) ziyimfuza. Oko kukuthi, zibangelwa kukutshintsha kwe-DNA. Kwiimeko ezininzi, olu tshintsho lwemfuza luyenzeka ngokungacwangciswanga, aluyonto ezuzwe ngabazali abafutshane. Oko kukuthi, uninzi lwabantwana abane-dwarfism banabazali abanobude obuqhelekileyo.

Nangona kunjalo, ukuba omnye okanye bobabini abazali bane-dwarfism, umntwana unethuba elingcono lokufumana esi sifo. Kuxhomekeke kuhlobo lwe-dwarfism. Umzekelo, ukuba umama okanye utata une-achondroplasia, umntwana unethuba elingama-50% lokufumana esi sifo. Ukuba bobabini abazali bane-achondroplasia, umntwana unethuba elingama-25% lokuba nohlobo olubi lwe-dwarfism olubizwa ngokuba yi -homozygous achondroplasia (apho umntwana ezalwa eswelekile okanye esweleka emva nje kokuzalwa) kunye nethuba elingama-50% lokuba ne-achondroplasia eqhelekileyo.

Ukuba uceba ukukhulelwa kwaye ufuna ukwazi umngcipheko wokuba umntwana wakho abe nesifo esizuzwe njengelifa, esifana ne-achondroplasia okanye olunye uhlobo lwe-dwarfism, thetha nogqirha wakho malunga novavanyo lwemfuza .

Indlela yokubona ubudwarfism?

Kwezinye iimeko, oogqirha banokubona i-skeletal dysplasia ngaphambi kokuba umntwana azalwe. Ngexesha lokukhulelwa, oogqirha basebenzisa uvavanyo lokuhlolwa kwangaphambi kokukhulelwa ukuze babone naziphi na iingxaki ekukhuleni komntwana.

Emva kokuba umntwana ezelwe, ugqirha uza kujonga ukukhula komntwana ngexesha lotyelelo lwempilo lwaminyaka le. Ukuba i-dwarfism ayibonwa xa ezalwa, ukuba umntwana uphoswa ziindlela zokukhula , oko kungaba luphawu lwesi sifo kwaye kunokuchongwa kamva. Uvavanyo olongezelelweyo, olufana ne -X-ray kunye novavanyo lwegazi, lunokunceda ugqirha ukuba afumanise ukuba kutheni umntwana engakhuli ngesantya esiqhelekileyo. Le yindlela efunyanwa ngayo le nto.

Zithini iindlela zonyango lwe-dwarfism?

Ngenxa yokuba kungekho ndlela ithile yonyango lwe-skeletal dysplasia, unyango lujolise ekulawuleni iimpawu, ezizodwa kumntu ngamnye kunye nokuxilongwa.

Unyango lotyando lokulawula iimpawu lungabandakanya:

• Utyando lokulungisa imilo yamathambo okanye amathambo akhula ngendlela engaqhelekanga.
• Ukususa ulwelo olugqithisileyo oluqokelelene engqondweni (utyando lwe-hydrocephalus).
• Utyando lokunciphisa uxinzelelo kwisiqu sobuchopho (inxalenye yengqondo eqhagamshelana nomqolo).
• Utyando lokususa iitoni kunye/okanye ii-adenoids ukuze kube lula ukuphefumla.
• Ukufaka iityhubhu endlebeni ukuthintela ukosuleleka endlebeni.

Ezinye iindlela zonyango ezingezizo ezotyando ziquka:

• Ukusebenzisa umatshini we-CPAP (Continuous Positive Airway Pressure) ukunyanga i-sleep apnea .
• Ukusebenzisa izixhobo zokuva ukuphucula ukuva.
• Khuthaza imikhwa yokutya okunempilo kunye nokuzilolonga ukuze uthintele ukutyeba kakhulu okanye ukutyeba kakhulu (i-BMI engama-30 nangaphezulu).
• Ukunika i-hormone yokukhula (unyango lwee-hormone) njengonyango lokungabikho kwe-hormone yokukhula.
• Ngo-2021, i-US Food and Drug Administration yavuma ukuba ichiza iVosoritide (Voxzogo®) lisetyenziswe kubantwana abaneminyaka engaphezulu kwemi-5 ubudala abane-achondroplasia abanamathambo angekavali (oko kukuthi, ukukhula kwabo akukapheli). Kwilingo leklinikhi, ichiza iVosoritide lincede abantwana bakhule ngokukhawuleza.

Khumbula, olu nyango lunokufuneka ubomi bonke, kodwa lunokuphucula kakhulu umgangatho wobomi bomntu.

Ndingawunciphisa njani umngcipheko wokuba umntwana wam abe ngumntwana omfutshane?

Ngenxa yokuba ezinye iintlobo ze-skeletal dysplasia ziyimfuza, akukho ndlela yokuthintela le meko ngaphandle kokuba ugqirha enze uvavanyo, olufana novavanyo lwemfuza lwangaphambi kokufakelwa . Kungcono ukubonisana nogqirha wakho malunga novavanyo lwemfuza ukuze ufumane ukuba yintoni kanye kanye ingozi yomntwana wakho kwimeko yemfuza efana ne-dwarfism.

Isondlo sophuhliso lomntwanaOko ukuthethayo kubaluleke kakhulu. Ukuba ukhulelwe, qiniseka ukuba utya ukutya okunesondlo. Kwanasemva kokuba umntwana ezelwe, kufuneka umnike iintlobo ngeentlobo zokutya okunempilo okufanelekileyo ngokweminyaka yakhe, okufana neeproteni, iziqhamo, iinkozo, kunye nemifuno. Ngaleyo ndlela, uya kufumana zonke izondlo azidingayo ukuze akhule.

Yintoni onokuyilindela ukuba unomntwana onesifo esifutshane?

Nangona kungekho ndlela ithile yonyango lwe-skeletal dysplasia, abantu abaninzi abafutshane baphila ubomi obuqhelekileyo kunye nempilo entle ngonyango lokulawula iimpawu zabo. Nangona kunjalo, ezinye zeempawu zesi sifo zinokuba nzima kumntwana nakusapho, ingakumbi ukuba ukukhula kwamathambo okungaqhelekanga kufuna utyando oluninzi. Ugqirha wakho uza kusebenza ngokusondeleyo nawe kunye nomntwana wakho ukubonelela ngonyango umntwana wakho aludingayo ukuze aphile ubomi obupheleleyo nobunempilo.

Ingakanani iminyaka yobomi bomntu onesifo sofuba?

Kwiintlobo ezininzi ze-dwarfism, ubomi obuqhelekileyo bunokulindelwa ngonyango lokulawula iimpawu. Nangona kunjalo, ngelishwa, kwezinye iintlobo, ubomi bunokufinyezwa.

Ndingamnyamekela njani umntwana wam one-skeletal dysplasia?

Ukongeza ekuhlangabezaneni neemfuno zonyango zomntwana wakho, ungamxhasa umntwana wakho ngokwenza ezi zinto zilandelayo, udale imeko-bume yasekhaya eyamkelayo nemvumela ukuba athathe inxaxheba kuyo yonke into:

• Ukususa imiqobo yomzimba ekhaya ukuze umntwana akwazi ukusebenza eyedwa (umzekelo, ukuba nesitulo, ukunciphisa iswitshi yokukhanyisa).
• Ukubonelela ngenkxaso yemfundo kunye/okanye yengqondo ukuthintela okanye ukumelana nokuxhatshazwa ngabanye abantwana esikolweni.
• Kwakhona, ukunxibelelana nemibutho enceda abantwana ngokuxilongwa.

Njengabazali, kufuneka sibaphathe abantwana bethu ngokweminyaka yabo, kungekhona ngokwebude babo. Oku kubaluleke kakhulu.

Yeyiphi imibuzo omele uyibuze ugqirha?

Ukuba umntwana wakho unale meko, ungambuza ugqirha imibuzo efana nale:

• Ngaba utyando luyimfuneko ukuze kunyangwe iimpawu zomntwana wam?
• Ndingamnceda njani umntwana wam ukuba athintele usulelo lwendlebe?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kunyango olucebisayo?
• Umntwana wam kufuneka athathe ii-hormone zokukhula ixesha elingakanani?

Okokugqibela, izinto ekufuneka uzikhumbule

Nokuba umntwana wakho ufunyaniswe ene-Skeletal Dysplasia kwaye ufuna utyando okanye unyango lwexesha elide ukulawula iimpawu, oko akuthethi ukuba akanakuphila ubomi obupheleleyo nobunenjongo. Njengomzali okanye umgcini, kufuneka umphathe umntwana wakho ngokweminyaka yakhe, hayi ngokwebude bakhe. Oku kuya kunceda umntwana wakho akhe ukuzithemba kwaye azive amkelekile kwaye ethandwa.

Ukuba ungumntu omdala onesifo sengqondo esixhalabisayo, ukuba neqela elixhasayo, ukulawula iimpawu zakho, kunye nokuphila ubomi obusempilweni kunokukunceda uphile ubomi obupheleleyo nobusebenzayo.

`ubufutshane, i-skeletal dysplasia, ubude obufutshane, ubufutshane, ukukhula kwamathambo, izifo zemfuza