Ukhathazekile ngentuthuko yengane yakho? Ake sifunde nge-(Achondroplasia)!

Ucabanga ukuthi ingane yakho encane imfushane kancane kunezinye izingane? Noma uke waphawula ukuthi izitho zomntwana wakho zimfushane kancane? Ngezinye izikhathi kuyinto evamile ukuzizwa wesaba kancane uma ubona izinto ezinjengalezi. Namuhla sizokhuluma ngesimo sofuzo esibizwa ngokuthi `(Achondroplasia)`, esithinta ukukhula kwezingane. Kubaluleke kakhulu ukuba nolwazi oluhle ngalokhu.

Kuyini `(Achondroplasia)`? Masikuqonde kalula!

Kulungile, manje ake sibone ukuthi iyini le `(Achondroplasia)`. Cabanga ngakho, ngesikhathi umntwana esesibelethweni, isikhathi esiningi uhlaka lomntwana lwakhiwe ngezicubu ezithambile ezibizwa ngokuthi i-cartilage . Kulapho-ke kuphela lapho le cartilage iphenduka khona kancane kancane ibe yithambo eliqinile, okungukuthi, amathambo. Endabeni ye-`(Achondroplasia)`, okwenzekayo ukuthi le cartilage esezingalweni nasemilenzeni yengane yakho ayiguquki ibe yithambo kahle. Kalula nje, kunenkinga encane enqubweni yokuguqula i-cartilage ibe yithambo.

Lesi yisimo sofuzo , isifo sofuzo. Lokhu kubangela kakhulu ukuthi ubude bezingalo nemilenze yengane bunciphe. Ngokukhethekile, ingxenye engenhla yezingalo (izingalo) kanye nengxenye engenhla yemilenze (amathanga) iba mfushane kunezingxenye ezingezansi zezitho ezifanayo. Odokotela bakubiza lokhu ngokuthi `(ukufinyeza kwe-rhizomelic)`. Yingakho siphinde sibize lesi simo ngokuthi ``ukufinyeza kwezitho ezimfushane``.

Uyini umehluko phakathi kwe-`(Achondroplasia)` kanye ne-`(Skeletal Dysplasia)` (i-dwarfism)?

Kungenzeka ukuthi uke wezwa igama elithi `(Skeletal Dysplasia)`. Abanye abantu balibiza nangokuthi "i-dwarfism." `(Skeletal Dysplasia)` empeleni iyisambulela esikhulu. Ihlanganisa amakhulu ezimo ezahlukene ezithinta ukuthuthukiswa kwamathambo kanye ne-cartilage. Ngakho-ke, `(Achondroplasia)` ingenye yezinhlobo ezivame kakhulu ze-`(Skeletal Dysplasia)` . Ku-`(Achondroplasia)`, ukukhula kwamathambo kuqondiswe ngqo ezingalweni nasemilenzeni. Uyaqonda?

Ingabe lesi simo sibizwa ngokuthi "i-Achondroplasia" njengefa?

Lena inkinga abazali abaningi abanayo.

• Izindaba ezinhle ukuthi ezimweni eziningi (cishe u-80%) `(Achondroplasia)` ayizuzwa njengefa. Ngisho nabazali abade futhi abangenazo ezinye izinkinga bangaba nengane enalesi simo. Lokhu kubangelwa ushintsho olusha ku-gene yengane. Odokotela bakubiza lokhu ngokuthi `(de novo mutation)`. Abazali abanjalo cishe abanaso lesi simo futhi.
• Kodwa-ke, uma omunye wabazali enesifo esithi `(Achondroplasia)`, ingane inethuba elingu-50% lokuthola lesi simo njengefa. Lokhu kubizwa ngokuthi `(autosomal dominant)` ifa. Lokhu kusho ukuthi i-gene enesifo ingathinteka ngisho noma oyedwa kuphela wabazali enaso.
• Uma bobabili abazali benesifo se-achondroplasia, isimo siba nzima kakhulu. Bese kuthi, kube nethuba elingama-25% lokuthi ingane izoba nesifo esibi kakhulu esibizwa ngokuthi i-homozygous achondroplasia. Lesi simo esibi kakhulu singabangela ukuthi ingane izalwe ifile noma ife ngokushesha ngemva kokuzalwa.

Into ebaluleke kakhulu ukuthola ukwelulekwa ngofuzo uma unokungabaza ngalesi simo. Ngaleyo ndlela ungazi imininingwane eqondile.

Bangaki abantu abathintekayo yilesi simo (i-Achondroplasia)?

Lesi akusona isimo esivamile kakhulu. Empeleni, lesi simo sithinta ingane eyodwa kweziyi-15,000 kuya kweyodwa kweziyi-40,000 ezizalwa emhlabeni jikelele .

I-`(Achondroplasia)` iyithinta kanjani umzimba wengane?

Izingane ezinalesi simo zingase zibe nobuthakathaka bemisipha (hypotonia) lapho zizalwa. Lokhu kungabangela ukubambezeleka ekuthuthukisweni kwamakhono okunyakaza njengokukhasa, ukuhlala, nokuhamba. Lokhu kuvamile, kodwa kuyinto okufanele uyiqaphele.

Ngaphezu kwalokho, laba bantwana basengozini enkulu yokucindezelwa komgogodla kanye nokuvaleka kokuphefumula okuphezulu ngesikhathi sasebuntwaneni, okungaholela ezinkingeni eziningi zempilo.

Ezinye izinto ezivame ukubonwa yilezi:

• Ubunzima bokuphefumula.
• Ukutheleleka kwendlebe okuvamile.
• Ukuba nomkhuba omkhulu wokukhuluphala ngokweqile.

Ngakho-ke, kubaluleke kakhulu ukuthi zonke izingane ezine-"(Achondroplasia)" zihlolwe njalo ngaphansi kokuqashwa okuseduze kukadokotela. Kungaleso sikhathi kuphela lapho izimpawu ezingaba khona zingabonakala khona kusenesikhathi futhi zelashwe noma zivinjelwe.

Yini ebangela `(Achondroplasia)`?

Imbangela eyinhloko yalesi simo ukuguqulwa kwezakhi zofuzo . Umzimba wethu une-`(receptor)` ekhethekile esiza ukuguqula i-cartilage ibe yithambo ngesikhathi sesigaba sombungu. Ukuguqulwa kwezakhi zofuzo okubizwa ngokuthi `(FGFR3)` okulawula le `(receptor)` kuyimbangela eyinhloko ye-`(Achondroplasia). Kalula nje, isignali eguqula i-cartilage ibe yithambo ayidluli kahle.

Ziyini izimpawu ze-`(Achondroplasia)`?

Kunezici eziningana ezivamile ezibonakala ezinganeni ezinalesi simo:

• Ukufinyezwa kwamathambo ezingalweni nasemilenzeni (ikakhulukazi emathangeni nasezingalweni ezingaphezulu).
• Izingalo nemilenze kufushane kunokujwayelekile.
• Kungase kube negebe elikhulu phakathi komunwe ophakathi (umunwe wesithathu) nomunwe wendandatho (umunwe wesine) (owaziwa nangokuthi `isandla esinama-trident`).
• Ukuphakama okuphezulu okumaphakathi uma umuntu esemdala kungamamitha angu-1.2 (cishe amasentimitha angu-122) .
• Ikhanda likhulu kunejwayelekile (i-macrocephaly).
• Ibunzi liphuma phambili (`ukubuswa kwangaphambili`).
• Isisekelo sekhala siyisicaba (`midface hypoplasia`).
• Ukulibaziseka kokukhula ebuntwaneni (isib. ukuhlala phansi, ukukhasa, ukuhamba kungase kube sekwephuzile kunezinye izingane).

Yimiphi imiphumela yesikhathi eside ye-`(Achondroplasia)`?

Ukuphila nalesi simo kungaba nemiphumela ethile yesikhathi eside, okubalulekile ukuqaphela:

• Ubuhlungu emhlane nasemilenzeni.
• Ubunzima bokuphefumula, ikakhulukazi ukuphumula kokuphefumula ngesikhathi sokulala (i-'apnea').
• Ukukhuluphala ngokweqile.
• Ukutheleleka kwendlebe okuvamile.
• Ukugoba komgogodla (i-spinal stenosis noma i-kyphosis).
• Ukugoba imilenze ngaphakathi noma ngaphandle njengomnsalo (`imilenze egobile`).
• Ngezinye izikhathi kuba nokuqongelela koketshezi olwengeziwe oluzungeze ubuchopho (i-hydrocephalus).
• I-obstructive sleep apnea (isifo sokuphefumula esibangelwa ukuvaleka kwendlela yokuphefumula ngesikhathi sokulala).

Akuzona zonke lezi zinto ezenzeka kuwo wonke umuntu, kodwa kubalulekile ukuzazi futhi ufune iseluleko sezokwelapha uma kudingeka.

I-achondroplasia ingatholakala nini kusenesikhathi?

Ngokuvamile, ukuskena kwe-ultrasound okwenziwa ngesikhathi umntwana esesesibelethweni kungabangela izinsolo ngesimo esithi ``(Achondroplasia).`` Okusho ukuthi, odokotela basola lokhu uma, ngasekupheleni kokukhulelwa, izitho zomntwana zibonakala zimfushane kunokujwayelekile futhi ikhanda libonakala likhulu. Kodwa-ke, ezimweni eziningi, lesi simo siqinisekiswa ngokuqinisekile ngokuhlolwa okwenziwa ngemva kokuzalwa komntwana.

Sitholakala kanjani lesi simo `(Achondroplasia)`?

Odokotela basebenzisa izivivinyo eziningana ukuze baxilonge i-achondroplasia:

• Ukuhlolwa komzimba: Kuhlolwa izici zomzimba zengane (njengemilenze emifushane, ikhanda elikhulu).
• Ama-X-ray: Ama-X-ray asetshenziselwa ukubheka ukuma nokukhula kwamathambo.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kwenziwa ukuqinisekisa ukuthi kukhona yini ukuguquka kofuzo okubizwa ngokuthi `(FGFR3)`. Lena yindlela eqondile kakhulu.
• Uma omunye wabazali noma bobabili benalesi simo, singatholakala futhi ngokuhlolwa okukhethekile okwenziwa ngesikhathi sokukhulelwa (ukuxilongwa kwangaphambi kokubeletha).
• Ngezinye izikhathi, ukuskena kwe-MRI (magnetic resonance imaging) noma i-CT (computerized tomography) kungenziwa ukuze kubhekwe izinto ezinjengobuthakathaka bemisipha noma ukucindezelwa kwemizwa yomgogodla.

Yiziphi izindlela zokwelapha `(Achondroplasia)`?

Kuze kube manje, akukho ukwelashwa okuqondile okutholiwe okungayelapha ngokuphelele lesi simo `(Achondroplasia).` Lokhu kusho ukuthi ushintsho lwezakhi zofuzo olubangela lesi simo alunakuguqulwa. Kodwa-ke, lokho akusho ukuthi akukho lutho olungenziwa.

Umgomo oyinhloko wokwelashwa ukuphatha izimpawu nezinkinga ezingase zivele ngenxa yalesi simo nokusiza ingane ukuba iphile impilo enempilo nekhululekile ngangokunokwenzeka.

Odokotela baqapha ukukhula kwengane kusukela ekuqaleni ngokulinganisa njalo ubude bayo, isisindo sayo, kanye nobubanzi bekhanda layo.

Ingabe ikhona ikhambi eliphelele lalesi simo `(Achondroplasia)`?

Njengoba kushiwo ngaphambili, okwamanje alikho ikhambi le-achondroplasia. Kodwa-ke, lokhu akufanele kukudikibalise. Abantu abaningi abane-achondroplasia bangaphila impilo egcwele, enempilo, nejabulisayo.

Ungazilawula kanjani izimpawu ze-`(Achondroplasia)`?

Ukulawula izimpawu kuyinto ebaluleke kakhulu lapha. Lokho kusho ukuqaphela izinkinga ezingaba khona nokuthatha izinyathelo zokuzivimbela. Isibonelo:

• Ukulawula isisindo: Njengoba ukukhuluphala kungaba yinkinga ehambisana nalesi simo, kubaluleke kakhulu ukuthuthukisa imikhuba yokudla enempilo nokuhlala usebenza.
• Ukuhlinzwa:
• Ezimweni zokunqwabelana koketshezi ebuchosheni (i-hydrocephalus), ukuhlinzwa okubizwa ngokuthi i-ventriculoperitoneal shunt kungenziwa ukuze kuncishiswe ingcindezi.
• Ukuhlinzwa kungadingeka futhi ezimweni lapho ukucindezelwa kwemizwa phezulu entanyeni (ukucindezelwa kwe-craniocervical junction) kungaba yingozi empilweni.
• Uma unezifo zomphimbo ezivame ukwenzeka, kungadingeka uhlinzwe ukuze kususwe ama-adenoid nama-tonsils.
• Ama-hormone okukhula: Ezinye izingane zinikezwa ukwelashwa ngama-hormone okukhula. Lokhu kungasiza ekukhuliseni ubude ngezinga elithile, kodwa akuwona wonke umuntu othola imiphumela efanayo. Kufanele ukhulume nodokotela wakho ngalokhu.
• Uma unenkinga yokuphefumula (i-apnea): Uma unenkinga yokuphefumula ngesikhathi ulele, ungase unconywe ukuthi usebenzise umshini obizwa ngokuthi i-CPAP (Continuous Positive Airway Pressure).
• Ngezifo zendlebe: Uma unesifo sendlebe esivame ukwenzeka, ungase unikezwe amapayipi endlebe noma ama-antibiotic.
• Ukusekelwa komphakathi: Kubaluleke kakhulu ukunikeza ingane ukwesekwa kwengqondo ekudingayo ukuze ibhekane nomphakathi futhi izwane kahle nabanye.
• Ucwaningo: Ucwaningo seluyaqhubeka ngemithi emisha engakhulisa ukuphakama kancane.

Ngingayinciphisa yini ingozi yengane yami yokuthola i-achondroplasia?

I-Achondroplasia ivame ukubangelwa ukuguquka kwezakhi zofuzo okungahleliwe, okusha, ngakho-ke ayikho indlela yokuvimbela izehlakalo ezinjalo ezingahleliwe. Lokho kusho ukuthi awukwazi ukuyilawula.

Kodwa-ke, uma omunye wabazali bakho ene-achondroplasia, kunezindlela zokunciphisa ingozi yokuthi ingane yakho ithole lesi simo njengefa. Isibonelo esisodwa inqubo ebizwa ngokuthi ukuhlolwa kwezakhi zofuzo ngaphambi kokutshalwa kweqanda (i-PGT). Lokhu kuhilela ukudala umbungu nokuhlola izakhi zofuzo zawo ngaphambi kokuba utshalwe esibelethweni sikamama. Ungabuza umhlinzeki wakho we-OB/GYN noma umeluleki wezakhi zofuzo ukuthola ulwazi olwengeziwe ngalokhu.

Ingakanani iminyaka yokuphila yomuntu one-`(Achondroplasia)`?

Lokhu kuyinkinga enkulu kubantu abaningi. Ngenhlanhla, iningi labantu abane-achondroplasia liphila isikhathi sokuphila esijwayelekile. Ukuhlakanipha kwabo nakho kujwayelekile. Nakuba kungase kube nokubambezeleka kokukhula ebuntwaneni, lokhu akuthinti ukuhlakanipha kwabo.

Kuyiqiniso ukuthi i-achondroplasia ingabangela ezinye izinkinga zempilo. Kodwa-ke, uma lezo zimpawu ziphathwa kahle, izinkinga ezinkulu zempilo kamuva zingavinjelwa kakhulu.

Ngingamsiza kanjani ingane yami nge-`(Achondroplasia)`?

Izingane ezitholakale zine-achondroplasia zinamandla aphelele okuphila impilo ejabulisayo, enempilo, neyanelisayo. Izinto ezibaluleke kakhulu ongazenza njengomzali yilezi:

1. Ukunakekela izidingo zezokwelapha zengane yakho: Kubalulekile ukuyisa ingane yakho ekuhlolweni kwezokwelapha ngesikhathi futhi uyinikeze ukwelashwa okudingekayo.

2. Ukudala indawo enothando neyamukelekayo yengane ekhaya:

• Ukunciphisa izithiyo ezingokomzimba: Yenza izinguquko ezincane endaweni yasekhaya ukuze kube lula ngengane yakho ukwenza imisebenzi yansuku zonke yodwa. Isibonelo, ukubeka isihlalo sonyawo eduze kwesinki noma indlu yangasese, noma ukubeka izinkinobho zokukhanyisa nezinkinobho zomnyango eduze kwengane yakho. Lokhu kuzokwandisa ukuzimela kwengane yakho.
• Ukunikeza ukwesekwa kwengqondo nokufundisa: Ingane ingase ihlukunyezwe abanye, kungaba esikoleni noma kwenye indawo. Vimbela izinto ezinjalo, yakha ukuzethemba kwengane, futhi unikeze ukwesekwa kwemfundo ekudingayo.
• Ukuxhumana namaqembu omphakathi nezinhlangano zabantu abanesifo sokungaboni kahle: Wena nomntanakho ningathola ulwazi oluningi, ulwazi kanye nokusekelwa ezindaweni ezinjalo.

Kufanele ngimbone nini udokotela wami?

Indlela engcono kakhulu yokuvimbela noma yokunciphisa izimpawu eziningi ezihambisana ne-achondroplasia ukuya njalo ekuhlolweni kwezokwelapha kusukela esemncane.

Uma ubona lezi zinto enganeni yakho, bheka udokotela ngokushesha:

• Uma, ngesikhathi sobuntwana, ubude bomntwana bungakhuphuki ngokulingana nobudala bakhe , noma uma ephuze ukudlula izigaba zomzimba njengokuhlala, ukukhasa, nokuhamba ('ukubambezeleka kokukhula').
• Uma ingane yakho inenkinga yokuphefumula , izifo zendlebe ezivame ukwenzeka , ubuhlungu emhlane nasemilenzeni , noma uma ucabanga ukuthi isengozini yokukhuluphala ngokweqile .

Khumbula, kubaluleke kakhulu ukuba nombono omuhle ngenkathi unakekela izinkinga zempilo yengane yakho. Ukuphatha ingane yakho ngendlela efanele iminyaka yayo, ngaphandle kokuyibeka eceleni noma ukubheka ubude bayo, kusiza kakhulu ekwakheni ukuzethemba kwayo.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Nakuba i-achondroplasia iyisifo esibangelwa izakhi zofuzo, ayisongeli impilo.

• Kubaluleke kakhulu ukwaziswa kahle ngalesi simo.
• Kubalulekile ukunikeza ingane ukwelashwa nokusekelwa okudingekayo.
• Izinkinga eziningi zingavinjelwa ngokubona nokuphatha izimpawu zisesencane.
• Ngokudala indawo yothando, yokusekela, neyamukelayo yezingane ekhaya nasemphakathini, zingaphila impilo ejabulisayo neyanelisayo.
• Khumbula, awuwedwa. Funa usizo kodokotela, abeluleki kanye nabazali bezingane ezinalesi simo.

Kuvamile ukuzizwa udabuke futhi wesaba uma uthola ukuthi ingane yakho ine-achondroplasia. Kodwa-ke, ngolwazi olufanele kanye nokusekelwa, wena nengane yakho ningahamba lolu hambo ngempumelelo.

I- Achondroplasia, i-dwarfism, i-skeletal dysplasia, izifo zofuzo, ukukhula kwamathambo, i-FGFR3 gene, ukukhula kwengane, i-hypotonia, i-hydrocephalus, i-sleep apnea