Ukhathazekile ngobufushane bomntwana wakho? Ake sifunde nge-Pseudoachondroplasia!

Ngezinye izikhathi ungase ucabange, 'O, ingane yami imfushane kancane kunezinye izingane, akunjalo?' Noma ingabe udokotela ubheke ishadi lokukhula kwengane yakho wathi okuthile okufana nokuthi, 'Ukuphakama kwengane yakho kuphambene kancane'? Ngezikhathi ezinjengalezi, imbangela ingaba yisimo esibizwa ngokuthi i-pseudoachondroplasia, esizokhuluma ngaso namuhla. Nakuba lokhu kungase kubonakale njengegama elikhulu, ake sixoxe ngakho kalula.

Kalula nje, kuyini `(Pseudoachondroplasia)`?

I-Pseudoachondroplasia, kalula nje, yisimo esingavamile sofuzo esithinta ukukhula kwamathambo ethu. Yilokhu okubangela abanye abantu ukuba babe bafushane, noma 'bafushane' njengoba sikubiza kanjalo. Ngezinye izikhathi kungazuzwa njengefa, noma kungenzeka futhi ngokungahleliwe.

Into ebalulekile ukuthi noma umuntu one-`(Pseudoachondroplasia)` enemilenze emifushane kunejwayelekile, izici zobuso bakhe, ubukhulu bekhanda, kanye nobuhlakani bakhe kuyinto evamile. Lokhu kusho ukuthi lokhu akuthinti ubuhlakani. Ngakho ungakhathazeki ngakho.

Kunezinye amagama alokhu, futhi kungenzeka ukuthi uke wezwa odokotela besebenzisa la magama:

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

Lawa wonke amagama asho isimo esifanayo.

Izoba yinde kangakanani ngalesi simo?

Esikhathini esiningi, ingane ene-`(Pseudoachondroplasia)` ayimfushane lapho izalwa. Izalwa ijwayelekile. Kodwa-ke , cishe ineminyaka emibili kuphela lapho iqala ukubonisa ukwehla okuncane kokuphakama uma kuqhathaniswa nezinye izingane. Lokhu kusho ukuthi ukuphakama kwengane kuqala ukuqoshwa njengokufushane kunezinye izingane kumashadi okukhula asetshenziswa odokotela.

Ekugcineni, cishe wonke umuntu onalesi simo uzoba mfushane kunokuvamile. Indoda ingalindela ukuba ibe cishe ngamafidi angu-1.19 ubude, kanti owesifazane angalindela ukuba cishe ngamafidi angu-1.14 ubude .

Uyini umehluko phakathi kwe-`(Pseudoachondroplasia)` kanye ne-`(Achondroplasia)`?

Kungenzeka ukuthi uke wezwa ngesimo esibizwa ngokuthi `(Achondroplasia)`. Lesi esinye isimo sofuzo esibangela ukufinyela. Esikhathini esidlule, `(Pseudoachondroplasia)` kanye `(Achondroplasia)` kwakubhekwa njengesimo esifanayo. Kodwa-ke, ucwaningo lwamuva lukhombisile ukuthi nakuba zombili zibangela ukufinyela, ziyizimo ezimbili ezihlukene.

I-Achondroplasia ibangelwa ukuguquka kwezakhi zofuzo ezahlukene. Abantu abane-achondroplasia nabo banezici zobuso ezihlukile. Kodwa-ke, endabeni ye-pseudoachondroplasia, esikhuluma ngayo namuhla, izici zobuso ezinjalo ezihlukile azenzeki.

Sivame kangakanani lesi simo?

I-Pseudoachondroplasia yisimo esingavamile kakhulu. Ngokusho kososayensi,Lesi simo senzeka cishe koyedwa kwabangu-30,000 noma oyedwa kwabangu-100,000 abazalwayo. Ngakho akuyona into evame kakhulu.

Kungani lokhu `(Pseudoachondroplasia)` kuvela? Ziyini izimbangela?

Isizathu esiyinhloko salokhu ushintsho ku-gene emzimbeni wethu. Uma sikhuluma iqiniso, lesi simo sibangelwa ukuguquka kwe-gene `(COMP)` (isifinyezo se-`Cartilage Oligomeric Matrix Protein``).

Manje ungase uzibuze ukuthi iyini le gene `(COMP)`, iyini le `(chondrocytes)`. Cabanga nje ngale ndlela:

Ngaphambi kokuba amathambo akheke emizimbeni yethu, kukhona into ebizwa ngokuthi i-cartilage kulezo zindawo. Kuyizicubu eziguquguqukayo kancane njengerabha. Amaseli enza le cartilage abizwa ngokuthi `(chondrocytes)` . I-gene `(COMP)` ibaluleke kakhulu kula maseli `(chondrocytes)` ukuze asebenze kahle futhi abe nempilo enhle. Njengoba nje udinga izitini ezinhle ukuze wakhe indlu, la maseli `(chondrocytes)` kudingeka abe nempilo enhle ukuze amathambo akheke kahle.

Ngokuvamile, njengoba umntwana ekhula esibelethweni, le cartilage iphenduka kancane kancane ibe yithambo. Kodwa-ke, i-cartilage ethile ihlala emizimbeni yethu, ikakhulukazi ukuvikela amalunga nokumboza imikhawulo yamathambo.

Ngakho-ke, kumuntu one-`(Pseudoachondroplasia)`, ngenxa yoshintsho olukhulunywe ngalo ku-`(COMP)` gene, amaprotheni angajwayelekile aqoqana ngaphakathi kwala maseli `(chondrocytes)`. Bese lawa maseli efa ngokushesha. Uma lokho kwenzeka, kuvela izinkinga emalungeni, futhi amathambo awakhuli kahle. Yingakho ukwehla kobude nezinye izinkinga ezihlobene namathambo kwenzeka.

Lokhu kuguqulwa kwezakhi zofuzo `(COMP)` ngezinye izikhathi kungadluliselwa kusuka kubazali kuya ezinganeni. Lokhu kusho ukuthi uma umama noma ubaba enalesi simo, ingane ngayinye inethuba elingama-50% lokusizuza njengefa. Enye into ekhethekile ukuthi noma ngabe umama noma ubaba oyedwa kuphela onalesi simo, ingane ingasithola.

Kodwa isikhathi esiningi, lokhu kuguquka kwezakhi zofuzo kwenzeka ngokungahleliwe, okungukuthi, kwenzeka ngaphandle komlando womndeni (ukuguquka okuzenzakalelayo).

Yiziphi izimpawu ezingabonisa ukuba khona kwe-`(Pseudoachondroplasia)`?

Ezimweni eziningi, izimpawu ze-`(Pseudoachondroplasia)` azibonakali ekuzalweni. Njengoba kushiwo ngaphambili, izici zobuso, usayizi wekhanda, kanye nokuhlakanipha konke kujwayelekile. Kodwa-ke , ukukhubazeka kwamathambo kuqala ukuvela phakathi kweminyaka eyizinyanga ezingu-9 neminyaka engu-3. Lezi zimpawu zibe sezibonakala kakhulu ebuntwaneni.

Ngokuhamba kwesikhathi, ungabona izimpawu ezifana nalezi:

• Izinguquko esimweni semilenze: Abanye abantwana bangase babe nemilenze egobile noma amadolo ashayisanayo. Ngezinye izikhathi umlenze owodwa ungase ube ngenye indlela kanti omunye ube ngenye indlela (ukukhubazeka okubangelwa umoya).
• Ukugoba komgogodla: Isimo lapho umgogodla ugoba ohlangothini olulodwa (Scoliosis) noma ugobe phambili (Kyphosis) kungenzeka. Lokhu kungabangela ubuhlungu emhlane kanye nobunzima bokuphefumula.
• Ukuxega nokuqina kwamalunga: Amalunga amaningi (isib. iminwe, izihlakala) angase axege kakhulu kunokujwayelekile (ukuxega kwamalunga). Kodwa-ke, izindololwane nezinqe ngezinye izikhathi zingase ziqine kancane.
• Ubuhlungu bamalunga: Lokhu kungakhula kube yi-osteoarthritis ngokuhamba kwesikhathi. Lokhu kusho ukuthi ubuhlungu bamalunga bungakhula, ikakhulukazi njengoba ukhula.
• Ukungazinzi kwentamo: I-Odontoid hypoplasia, isimo lapho ingxenye engenhla yomgogodla ingakhuli kahle, ingabangela ukungazinzi kwentamo. Lokhu kuyinto okufanele uyikhathalele, njengoba kungalimaza imizwa entanyeni.
• Ukufinyela kwezandla neminwe: Izandla neminwe kungase kube mfushane kunokujwayelekile.
• Ubufushane: Lesi yisici esibaluleke kakhulu nesisobala.
• Ukugoqana kwesikhumba: Kwezinye izindawo, ungase ubone ukugoqana okwengeziwe kwesikhumba.
• Izinguquko endleleni yokuhamba: Ukungajwayelekile emathanjeni esinqeni kungabangela ukuhamba okuhamba kancane, njengedada, lapho uhamba.

Lezi zimpawu azifiki kubo bonke ngendlela efanayo. Abanye abantu bangase babe nezimpawu ezithile kuphela, kanti abanye bangase babe nazo eziningi. Ziyahlukahluka kuye ngomuntu nomuntu.

Odokotela bakuthola kanjani lesi simo (i-Pseudoachondroplasia)?

Udokotela angakwazi ukuthola i-pseudoachondroplasia ikakhulukazi ngokuhlola ingane nokuthatha ama-X-ray ukuze abheke isimo samathambo namalunga. Ama-X-ray angabona ngokucacile ukuma nokukhula kwamathambo, kanye nanoma yiziphi izinguquko ezikhethekile emaphethelweni amathambo.

Ngaphezu kwalokho, ukuhlolwa kwezakhi zofuzo kungenziwa ukuqinisekisa ukuthi ukuguquka kwezakhi zofuzo (ku-COMP gene) okubangela lesi simo kukhona yini. Lokhu kuvame ukuhilela ukuthatha isampula yegazi.

Uma othile emndenini ene-`(Pseudoachondroplasia)`, okungukuthi, uma usemndenini onengozi enkulu yokuthola lesi simo, ukuhlolwa kofuzo kungenziwa ngesikhathi sokukhulelwa. Okusho ukuthi, ngesikhathi umntwana esesesibelethweni. Lokhu kwenziwa kusetshenziswa izindlela zokuhlola ezibizwa ngokuthi `(Chorionic Villus Sampling)` noma `(Amniocentesis) `. Lezi yizivivinyo ezenziwa kuphela uma kudingeka, ngeseluleko sodokotela abangochwepheshe.

Yiziphi izindlela zokwelapha lesi simo `(Pseudoachondroplasia)`?

Ukwelashwa kwe-pseudoachondroplasia kuncike ebunzimeni besimo kanye nempilo yakho iyonke. Ngezinye izikhathi, akudingeki ukwelashwa okuqondile, kumane kuqashwe njalo ukuze kubonwe ukuthi izinkinga ziyavela yini. Kodwa-ke, abanye abantu bayakudinga ukwelashwa. Ukwelashwa kungafaka:

• Izibulali-zinhlungu: Izibulali-zinhlungu ezifana ne- "Analgesics" zinganikezwa ukunciphisa ubuhlungu bamalunga.
• Ukulungiswa kokugoba komgogodla:Uma kukhona ukugoba komgogodla (i-scoliosis, i-kyphosis), banganikezwa izisekelo ezikhethekile (ama-braces) ukuze bawagqoke, noma bangalungiswa ngokuhlinzwa.
• Ukwelulekwa: Kubaluleke kakhulu ukufuna ukwelulekwa ukuze kuxazululwe imiphumela yengqondo nengokwengqondo yokukhula okufushane. Lokhu kubalulekile kokubili enganeni nakubazali.
• Ukwelulekwa ngokwezakhi zofuzo: Njengoba lesi simo singathinta namanye amalungu omndeni, kungumqondo omuhle ukufuna ukwelulekwa ngokwezakhi zofuzo. Lokhu kuzosiza ekuhleleni umndeni esikhathini esizayo.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi kungakusiza ukuthuthukisa amandla akho, ukugcina ukuguquguquka kwamalunga, nokwenza imisebenzi yansuku zonke kalula.
• Ukuhlinzwa kwezinkinga zamathambo namalunga: Okunye ukuhlinzwa okuhlobene namalunga, njengokufakelwa kwe-hip kanye ne-osteotomy yamadolo, kungadingeka. Lokhu kunganciphisa ubuhlungu futhi kuthuthukise ukusebenza kwamalunga.
• Ukuhlinzwa kokuqinisa umgogodla nentamo: Uma kukhona ukungazinzile entanyeni nasemgogodleni, ukuhlanganiswa kokuhlinzwa kungenziwa ukuze kuqiniswe amathambo amabili noma ngaphezulu ngokuwahlanganisa ndawonye.

Akuwona wonke umuntu odinga lokhu kwelashwa ngendlela efanayo. Ithimba lakho lezokwelapha lizonquma uhlelo lokwelashwa olufanele wena.

Liyoba njani ikusasa kumuntu one-`(Pseudoachondroplasia)`?

Lokhu kuyaduduza kwabaningi. Lesi simo `(Pseudoachondroplasia)` asithinti intuthuko yakho yengqondo noma isikhathi sakho sokuphila. Abantu abane `(Pseudoachondroplasia)` bavame ukuphila impilo esebenzayo nekhiqizayo. Abaningi banemindeni yabo. Ngakho-ke akukho okufanele ukhathazeke ngakho. Into eyinhloko ukuqaphela izinkinga ezingaba khona kusenesikhathi bese uziphatha kahle.

Ingabe ikhona indlela yokuvimbela lesi simo?

Njengoba i-pseudoachondroplasia ibangelwa ukuguquka kwezakhi zofuzo, ayikho indlela yokuyivimbela ngokuphelele.

Uma unalesi simo, uma ukhulelwa, kunethuba elingama-50% lokuthi ingane yakho izozuza lesi sakhi sofuzo njengefa. Njengoba kushiwo ngaphambili, ukuhlolwa kwezakhi zofuzo ngaphambi kokubeletha kungabona lokhu kuguqulwa kwezakhi zofuzo. Udokotela wakho angase futhi ancome ukuthi amalungu omndeni aseduze athole ukwelulekwa kwezakhi zofuzo.

Uzinakekela kanjani wena kanye nengane yakho nge-`(Pseudoachondroplasia)`?

Uma wena noma ingane yakho ninesifo se-pseudoachondroplasia, ningazinakekela kahle ngokuthi:

• Ukuhlolwa kwezokwelapha okuhleliwe:Yiba khona kuzo zonke izivivinyo zokulandelela ezinconywe udokotela wakho. Lokhu kuzokusiza ukuthi uqaphe impilo yakho futhi uthole noma yiziphi izinkinga ngokushesha.
• Gwema imisebenzi elimaza amalunga: Gwema imisebenzi ebangela ubuhlungu futhi ubeke ingcindezi engadingekile emalungeni ngangokunokwenzeka. Isibonelo, imidlalo yokuxhumana kanye nemidlalo ehilela ukugxuma ngokweqile ayifaneleki.
• Nakekela intamo yakho: Gwema ukugoba intamo yakho kakhulu, njengoba lokhu kungandisa izinkinga zomgogodla. Kufanele uqaphele kakhulu ngalokhu uma une-`(i-Odontoid hypoplasia)`.
• Ukuzivocavoca okunobungane nokuhlanganyela: Gxila ekuzivocavoceni okunciphisa ukucindezeleka emathanjeni nasemalungeni akho. Izinto ezifana nokuhamba nokubhukuda zinhle kakhulu. Lokhu kuqinisa amalunga akho futhi kunciphisa ubuhlungu.

Ukunakekela lezi zinto kungenza impilo ibe lula kakhulu.

Ungamsiza kanjani umntwana one-`(Pseudoachondroplasia)` ukuthi abhekane ngokuphumelelayo nalesi simo?

Ezinye izingane zingase zibe namahloni futhi zibe namahloni ngenxa yezinguquko ezibonakalayo, njengokuba mfushane. Lokhu kungathinta nobudlelwano bazo nabantu. Nazi ezinye izinto ongazenza ukusiza ingane yakho ibhekane nalesi simo:

• Bona umeluleki wezempilo yengqondo : Cabanga ngokubona umeluleki wezempilo yengqondo ukuze asize ingane yakho iqonde futhi ilawule imizwa yayo.
• Khuluma ngokukhululekile nengane yakho: Khuluma ngokukhululekile nengane yakho ngesimo ngolimi olulula abangaluqonda. Phendula imibuzo yabo ngesineke. Sho izinto ezinjengokuthi, "Uhlukile kancane kwabanye, kodwa uyigugu kakhulu."
• Yazisa abantu ukuthi ingane ivame ukuba khona: Kungumqondo omuhle ukwazisa abantu ukuthi ingane ivame ukuba khona, njengothisha besikole, abangani, nezihlobo, ngalesi simo. Khona-ke bangaqonda futhi basize.
• Joyina amaqembu okusekela: Uma kukhona amaqembu okusekela noma izinhlangano zokusekela zikazwelonke lapho ungahlangana khona neminye imindeni ezimweni ezifanayo, ukujoyina nabo kungaba umthombo omkhulu wamandla. Kuningi ongakufunda kokuhlangenwe nakho kwabanye.
• Ukusekelwa esikoleni: Thola uhlelo lokubambisana kothisha ukuze ingane ifunde kahle futhi isebenzisane nabanye esikoleni ngaphandle kokuxhashazwa. Mhlawumbe ungahlela izinto ezifana nesihlalo sekilasi kanye nedeski ukuze kube lula ngengane.
• Zijwayeze ukuphendula imibuzo: Khuluma nengane yakho ngendlela yokuphendula imibuzo uma othile ebuza. Isibonelo, ungazijwayeza ukusho into elula nemfushane, njengokuthi, "Ngazalwa nginesimo lapho amathambo ami ayeka ukukhula."

Khumbula, uthando lwakho, ukwesekwa kwakho, nokuqonda kwakho yiwona mandla amakhulu ingane yakho ezoba nawo ukuze iphile ngenjabulo nalesi simo.Yazisa amakhono abo futhi ubakhuthaze.

Ngakho-ke, yiziphi izinto ezibaluleke kakhulu okufanele sizithathe ekhaya kule ndaba? (Umyalezo Wokuya Ekhaya)

Kulungile, sesikhulume kakhulu nge-`(Pseudoachondroplasia)` manje, akunjalo? Nazi ezinye izinto ezilula okufanele uzikhumbule:

• I-Pseudoachondroplasia yisimo sofuzo esithinta ukukhula kwamathambo, okuholela ekufiphaleni komzimba.
• Lokhu akukuthinti ubuhlakani noma isikhathi sokuphila.
• Izimpawu ezifana nezitho ezimfushane, ubuhlungu bamalunga, kanye nokugoba komgogodla kungabonakala.
• Lokhu kungaqinisekiswa ngokuhlolwa kwezokwelapha, ama-X-ray, kanye nokuhlolwa kofuzo.
• Kunezindlela zokwelapha ezitholakalayo. Izinkinga zingaphathwa ngezinto ezifana nemithi yokunciphisa ubuhlungu, ukwelashwa ngokomzimba, kanye nokuhlinzwa uma kudingeka.
• Nakuba lesi simo singenakuvinjelwa, ukuqashelwa kusenesikhathi kanye nokuphathwa okufanele kungakusiza ukuthi uphile impilo enempilo nesebenzayo.
• Uma ingane inalesi simo, into ebaluleke kakhulu ukuyinika uthando, ukwesekwa, nokuqonda. Yinike amandla ewadingayo ukuze isebenze kahle emphakathini.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela womndeni wakho noma uchwepheshe wamathambo. Bazokwazi ukukusiza kabanzi.

I- Pseudoachondroplasia, ubude obufushane, ubufushane, ukukhula kwamathambo, izifo zofuzo, i-COMP gene, ubuhlungu bamalunga