Ngaba ukhathazekile malunga nokukhula komntwana wakho? Masifunde nge-(Achondroplasia)!

Ucinga ukuba umntwana wakho omncinci mfutshane kunabanye abantwana? Okanye ngaba uqaphele ukuba amalungu omntwana wakho mafutshane? Ngamanye amaxesha kuyinto eqhelekileyo ukuziva usoyika xa ubona izinto ezinje. Namhlanje siza kuthetha ngemeko yemfuza ebizwa ngokuba yi-`(Achondroplasia)`, echaphazela ukukhula kwabantwana. Kubaluleke kakhulu ukuba nolwazi olupheleleyo ngale nto.

Yintoni `(Achondroplasia)`? Masiyiqonde ngokulula!

Kulungile, masibone ukuba yintoni le `(Achondroplasia)`. Cinga ngayo, ngexesha umntwana esesibelekweni, uninzi lwexesha amathambo omntwana enziwe sisicwili esithambileyo esibizwa ngokuba yi-cartilage . Kulapho ke kuphela apho le cartilage iguquka kancinci ibe lithambo eliqinileyo, oko kukuthi, amathambo. Kwimeko ye `(Achondroplasia)`, okwenzekayo kukuba le cartilage esezingalweni nasemilenzeni yomntwana wakho ayiguquki ibe lithambo ngokufanelekileyo. Ngamafutshane, kukho ingxaki encinci kwinkqubo yokuguqula i-cartilage ibe lithambo.

Le yimeko yemfuza , isifo semfuza. Oku kubangela ukuba ubude beengalo nemilenze yomntwana bunciphe. Ngokukodwa, inxalenye ephezulu yeengalo (iingalo) kunye nenxalenye ephezulu yemilenze (amathanga) iba mfutshane kuneendawo ezisezantsi zamalungu afanayo. Oogqirha bayibiza le nto ngokuthi `(ukufinyeza kwe-rhizomelic)`. Yingakho sikwabiza le meko ngokuthi ``ukufafaza kwamalungu amafutshane``.

Yintoni umahluko phakathi kwe-`(Achondroplasia)` kunye ne-`(Skeletal Dysplasia)` (i-dwarfism)?

Usenokuba ukhe waliva igama elithi `(Skeletal Dysplasia)`. Abanye abantu balibiza ngokuba yi "dwarfism." `(Skeletal Dysplasia)` sisixhobo esikhulu ngokwenene. Sigubungela amakhulu eemeko ezahlukeneyo ezichaphazela uphuhliso lwamathambo kunye ne-cartilage. Ngoko ke, `(Achondroplasia)` yenye yezona ntlobo zixhaphakileyo ze `(Skeletal Dysplasia)` . Kwi `(Achondroplasia)`, ukukhula kwamathambo kujoliswe ngokukodwa kwiingalo nasemilenzeni. Uyayazi?

Ingaba le meko ibizwa ngokuba yi-"Achondroplasia" yimfuza?

Le yingxaki ebanayo abazali abaninzi.

• Iindaba ezimnandi zezokuba kwiimeko ezininzi (malunga ne-80%) `(Achondroplasia)` ayizuzwa njengelifa. Kwanabazali abanobude obuqhelekileyo kwaye akukho ngxaki zimbi banokuba nomntwana onesi sifo. Oku kubangelwa lutshintsho olutsha kwijini yomntwana. Oogqirha bakubiza oku ngokuthi `(de novo mutation)`. Abazali abanjalo abanakwenzeka ukuba babe nomntwana onesi sifo kwakhona.
• Nangona kunjalo, ukuba omnye wabazali unesi sifo `(Achondroplasia)`, umntwana unethuba elingama-50% lokufumana esi sifo njengelifa. Oku kubizwa ngokuba yi-`(autosomal dominant)` inheritance. Oku kuthetha ukuba i-gene enesifo inokuchaphazeleka nokuba mnye kuphela wabazali onayo.
• Ukuba bobabini abazali bane-achondroplasia, imeko inzima ngakumbi. Emva koko, kukho amathuba angama-25% okuba umntwana abe nesifo esibi kakhulu esibizwa ngokuba yi-homozygous achondroplasia. Esi sifo sibi kakhulu sinokubangela ukuba umntwana azalwe eswelekile okanye afe emva nje kokuzalwa.

Eyona nto ibalulekileyo kukufumana ingcebiso ngemfuza ukuba unamathandabuzo malunga nale meko. Ngaleyo ndlela unokwazi iinkcukacha ezichanekileyo.

Bangaphi abantu abachaphazeleka yile meko (i-Achondroplasia)?

Esi asiyongxaki ixhaphakileyo. Xa sithetha nje, esi sifo sichaphazela umntwana omnye kwabayi-15,000 ukuya komnye kwabayi-40,000 abazalwa kwihlabathi liphela .

I-`(Achondroplasia)` iyichaphazela njani umzimba womntwana?

Iintsana ezinale meko zinokuba nobuthathaka bemisipha (hypotonia) xa zizalwa. Oku kunokubangela ukulibaziseka ekuphuhlisweni kwezakhono zomzimba ezifana nokukhasa, ukuhlala, nokuhamba. Oku kuqhelekile, kodwa yinto ekufuneka iqwalaselwe.

Ukongeza, aba bantwana basengozini enkulu yokucinezelwa komqolo kunye nokuvaleka kweendlela zokuphefumla ngexesha lobuntwana, nto leyo enokubangela iingxaki ezininzi zempilo.

Ezinye izinto eziqhele ukubonwa zezi:

• Ubunzima bokuphefumla.
• Usulelo lwendlebe oluhlala lukho.
• Ukuba notyekelo oluphezulu lokutyeba kakhulu.

Kungoko ke, kubaluleke kakhulu ukuba bonke abantwana abane-"(Achondroplasia)" bahlolwe rhoqo phantsi kweliso elibukhali likagqirha. Kungoko kuphela apho iimpawu ezinokubakho zinokuchongwa kwangethuba kwaye zinyangwe okanye zithintelwe.

Yintoni ebangela `(Achondroplasia)`?

Eyona nto ibangela le meko kukuguquka kwezakhi zofuzo . Umzimba wethu une-`(receptor)` ekhethekileyo enceda ukuguqula i-cartilage ibe yithambo ngexesha lesigaba somntwana osandul' ukuzalwa. Ukuguqulwa kwezakhi zofuzo okubizwa ngokuba yi-`(FGFR3)` okulawula le `(receptor)` yeyona nto ibangela i-`(Achondroplasia). Ngamafutshane, isignali eguqula i-cartilage ibe yithambo ayidluli ngendlela efanelekileyo.

Zithini iimpawu ze-`(Achondroplasia)`?

Kukho iimpawu ezininzi eziqhelekileyo ezibonwa ebantwaneni abanale meko:

• Ukufinyezwa kwamathambo ezingalweni nasemilenzeni (ingakumbi emathangeni nasezingalweni ezingentla).
• Iingalo nemilenze zimfutshane kunesiqhelo.
• Kusenokubakho umsantsa omkhulu phakathi komnwe ophakathi (umnwe wesithathu) kunye nomnwe weringi (umnwe wesine) (okwaziwa ngokuba yi-'trident hand').
• Ukuphakama okuphezulu okuqhelekileyo xa umntu emdala ziinyawo ezi-4 (malunga neesentimitha ezili-122) .
• Intloko inkulu kuneqhelekileyo (i-macrocephaly).
• Ibunzi liphuma phambili (`ukubutha kwangaphambili`).
• Isiseko sempumlo sithe tyaba (`midface hypoplasia`).
• Ukulibaziseka kokukhula ebuntwaneni (umz., ukuhlala phantsi, ukukhasa, ukuhamba kusenokuba emva kwexesha kunabanye abantwana).

Zithini iziphumo zexesha elide ze-`(Achondroplasia)`?

Xa uphila nale meko, kunokubakho iziphumo ezithile ezihlala ixesha elide. Kubalulekile ukuba uzazi:

• Intlungu yomqolo nemilenze.
• Ubunzima bokuphefumla, ingakumbi ukumisa ukuphefumla ngexesha lokulala (`apnea`).
• Ukutyeba kakhulu.
• Usulelo lwendlebe oluhlala lukho.
• Ukugoba komqolo (i-spinal stenosis okanye i-kyphosis).
• Ukugoba imilenze ngaphakathi okanye ngaphandle njengesaphetha (`imilenze egobileyo`).
• Ngamanye amaxesha kukho ukuqokelelana kolwelo olongezelelweyo olujikeleze ingqondo (i-hydrocephalus).
• I-obstructive sleep apnea (ingxaki yokuphefumla ebangelwa kukuvalwa kwendlela yomoya ngexesha lokulala).

Ayizizo zonke ezi zinto ezenzekayo kuye wonke umntu, kodwa kubalulekile ukuba uzazi kwaye ufune iingcebiso zonyango ukuba kuyimfuneko.

I-achondroplasia ingafunyanwa kwangethuba kangakanani?

Amaxesha amaninzi, ii-ultrasound scans ezenziwa ngelixa umntwana esesesibelekweni zinokubangela amathandabuzo malunga nemeko ethi ``(Achondroplasia).`` Oko kukuthi, oogqirha bayakukrokrela oku ukuba, ngasekupheleni kokukhulelwa, amalungu omntwana abonakala emafutshane kunesiqhelo kwaye intloko ibonakala inkulu. Nangona kunjalo, kwiimeko ezininzi, imeko iqinisekiswa ngokuqinisekileyo ngovavanyo olwenziwe emva kokuba umntwana ezelwe.

Ifunyanwa njani le meko `(Achondroplasia)`?

Oogqirha basebenzisa iimvavanyo ezininzi ukuxilonga i-achondroplasia:

• Uvavanyo lomzimba: Iimpawu zomzimba zomntwana (ezifana namalungu amafutshane, intloko enkulu) ziyahlolwa.
• Ii-X-reyi: Ii-X-reyi zisetyenziselwa ukujonga imilo kunye nophuhliso lwamathambo.
• Uvavanyo lwemfuza: Olu vavanyo lwenziwa ukuqinisekisa ukuba kukho utshintsho kwimfuza olubizwa ngokuba yi-`(FGFR3)`. Le yeyona ndlela ikhethekileyo.
• Ukuba omnye okanye bobabini abazali banale meko, inokubonwa nangovavanyo olukhethekileyo olwenziwe ngexesha lokukhulelwa (ukuxilongwa kwangaphambi kokuzalwa).
• Ngamanye amaxesha, i-MRI (magnetic resonance imaging) okanye i-CT (computerized tomography) scans zingenziwa ukukhangela izinto ezinje ngobuthathaka bemisipha okanye uxinzelelo lwemithambo-luvo yomgogodla.

Ziziphi iindlela zonyango ze-`(Achondroplasia)`?

Okwangoku, akukho nyango luthile lufunyenweyo olunokunyanga ngokupheleleyo esi sifo `(Achondroplasia).` Oku kuthetha ukuba utshintsho lwemfuza olubangela esi sifo alunakuguqulwa. Nangona kunjalo, oko akuthethi ukuba akukho nto inokwenziwa.

Injongo ephambili yonyango kukulawula iimpawu kunye neengxaki ezinokubangelwa yile meko nokunceda umntwana aphile ubomi obusempilweni nobonwabisayo kangangoko kunokwenzeka.

Oogqirha bajonga ukukhula komntwana kwasekuqaleni ngokulinganisa ubude bakhe, ubunzima bakhe, kunye nobubanzi bentloko yakhe rhoqo.

Ngaba ikho indlela yokunyanga ngokupheleleyo le meko `(Achondroplasia)`?

Njengoko bekutshiwo ngaphambili, okwangoku akukho nyango lwe-achondroplasia. Nangona kunjalo, oku akufanele kukutyhafise. Abantu abaninzi abane-achondroplasia banokuphila ubomi obupheleleyo, obusempilweni, nobonwabisayo.

Ungazilawula njani iimpawu ze-`(Achondroplasia)`?

Ukulawula iimpawu yeyona nto ibalulekileyo apha. Oko kuthetha ukuba uyazi iingxaki ezinokubakho kwaye uthathe amanyathelo okuthintela. Umzekelo:

• Ukulawula ubunzima: Ekubeni ukutyeba kakhulu kunokuba yingxaki ehambisana nale meko, kubaluleke kakhulu ukuba uhlakulele imikhwa yokutya okunempilo kwaye uhlale usebenza.
• Utyando:
• Kwiimeko zokuqokelelana kolwelo olujikeleze ingqondo (i-hydrocephalus), utyando olubizwa ngokuba yi-ventriculoperitoneal shunt lunokwenziwa ukunciphisa uxinzelelo.
• Utyando lunokufuneka nakwiimeko apho uxinzelelo lwemithambo-luvo phezulu entanyeni (uxinzelelo lwe-craniocervical junction) lunokuba yingozi ebomini.
• Ukuba unezifo zomqala ezixhaphakileyo, unokufuna utyando ukuze kususwe ii-adenoids kunye neetoni.
• Iihomoni zokukhula: Abanye abantwana banikwa unyango lweehomoni zokukhula. Oku kunokunceda ukwandisa ubude ngandlela thile, kodwa ayinguye wonke umntu ofumana iziphumo ezifanayo. Kuya kufuneka uthethe nogqirha wakho ngale nto.
• Xa unengxaki yokuphefumla (i-apnea): Ukuba unengxaki yokuphefumla xa ulele, ungacetyiswa ukuba usebenzise umatshini obizwa ngokuba yi-CPAP (Continuous Positive Airway Pressure).
• Kwizifo zendlebe: Ukuba unezifo zendlebe ezihlala zikhona, unganikwa iityhubhu zendlebe okanye amayeza okubulala iintsholongwane.
• Inkxaso yoluntu: Kubaluleke kakhulu ukunika umntwana inkxaso yengqondo ayidingayo ukuze akwazi ukumelana noluntu nokuhlalisana kakuhle nabanye abantu.
• Uphando: Uphando ngoku luyaqhubeka ngamayeza amatsha anokunyusa ubude kancinci.

Ndingawunciphisa na umngcipheko womntwana wam wokuba ne-achondroplasia?

I-Achondroplasia idla ngokubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga, ngoko ke akukho ndlela yokuthintela iziganeko ezinjalo ezingacwangciswanga. Oko kuthetha ukuba awukwazi ukuyilawula.

Nangona kunjalo, ukuba omnye wabazali bakho une-achondroplasia, kukho iindlela zokunciphisa umngcipheko wokuba umntwana wakho afumane esi sifo njengelifa. Umzekelo omnye yinkqubo ebizwa ngokuba luvavanyo lwezakhi zofuzo ngaphambi kokumfaka umntwana (i-PGT). Oku kubandakanya ukudala i-embryo kunye nokuvavanya izakhi zofuzo zayo ngaphambi kokuba ifakwe esibelekweni sikamama. Ungabuza umboneleli wakho we-OB/GYN okanye umcebisi wezakhi zofuzo ngolwazi oluthe kratya malunga noku.

Lingakanani ixesha lokuphila komntu one-`(Achondroplasia)`?

Oku kuxhalabisa kakhulu abantu abaninzi. Ngethamsanqa, uninzi lwabantu abane-achondroplasia baphila ubomi obuqhelekileyo. Ubulumko babo buqhelekile. Nangona kusenokubakho ukulibaziseka kokukhula ebuntwaneni, oku akuchaphazeli ingqondo yabo.

Kuyinyani ukuba i-achondroplasia inokubangela iingxaki ezithile zempilo. Nangona kunjalo, ukuba ezo mpawu zilawulwa kakuhle, iingxaki ezinkulu zempilo kamva ebomini zinokuthintelwa kakhulu.

Ndingamnceda njani umntwana wam nge-`(Achondroplasia)`?

Abantwana abafunyaniswe bene-achondroplasia banethuba elipheleleyo lokuphila ubomi obonwabisayo, obusempilweni, nobanelisayo. Ezona zinto zibalulekileyo onokuzenza njengomzali zezi:

1. Ukunyamekela iimfuno zonyango zomntwana wakho: Kubalulekile ukusa umntwana wakho kuvavanyo lwezonyango ngexesha kwaye umnike unyango olufunekayo.

2. Ukudala imeko-bume yothando neyamkelekileyo yomntwana ekhaya:

• Ukunciphisa imiqobo yomzimba: Yenza utshintsho oluncinci kwimeko yasekhaya ukuze kube lula kumntwana wakho ukwenza imisebenzi yemihla ngemihla eyedwa. Umzekelo, ukubeka isitulo sokunyathela kufutshane nesinki okanye indlu yangasese, okanye ukubeka izitshixi zokukhanyisa kunye nezibambo zomnyango kufutshane nomntwana wakho. Oku kuya kwandisa ukuzimela komntwana wakho.
• Ukubonelela ngenkxaso yengqondo neyokufundisa: Umntwana unokuxhaphazwa ngabanye, nokuba kusesikolweni okanye kwenye indawo. Thintela izinto ezinjalo, yakha ukuzithemba komntwana, kwaye unikeze inkxaso yemfundo ayidingayo.
• Ukunxibelelana namaqela oluntu kunye nemibutho yabantu abanesifo sofuba: Wena nomntwana wakho ninokufumana ulwazi oluninzi, amava kunye nenkxaso kwiindawo ezinjalo.

Ndifanele ndimbone nini ugqirha wam?

Eyona ndlela ilungileyo yokuthintela okanye yokunciphisa iimpawu ezininzi ezihambisana ne-achondroplasia kukuya rhoqo kuvavanyo lwezonyango usemncinci.

Ukuba ubona ezi zinto kumntwana wakho, bona ugqirha ngoko nangoko:

• Ukuba, ngexesha lobuntwana, ubude bomntwana abunyuki ngokweminyaka yakhe , okanye ukuba udlule kade kwiziganeko zomzimba ezifana nokuhlala, ukukhasa, nokuhamba ('ukulibaziseka kophuhliso').
• Ukuba umntwana wakho unengxaki yokuphefumla , uneengxaki zendlebe rhoqo , umqolo nemilenze zibuhlungu , okanye ukuba ucinga ukuba usemngciphekweni wokutyeba kakhulu .

Khumbula, kubaluleke kakhulu ukuba nembono entle ngelixa unyamekela iingxaki zempilo yomntwana wakho. Ukuphatha umntwana wakho ngendlela efanelekileyo ngokweminyaka yakhe, ngaphandle kokumjongela phantsi okanye ukujonga ubude bakhe, kunceda kakhulu ekwakheni ukuzithemba kwakhe.

Okokugqibela, umyalezo oya ekhaya

Nangona i-achondroplasia yimeko yemfuza, ayisongeli ubomi.

• Kubaluleke kakhulu ukuba nolwazi olufanelekileyo ngale meko.
• Kubalulekile ukunika umntwana unyango olufunekayo kunye nenkxaso .
• Iingxaki ezininzi zinokuthintelwa ngokuchonga nokulawula iimpawu kwasekuqaleni.
• Ngokudala imeko-bume enothando, exhasayo neyamkelekileyo kubantwana ekhaya naseluntwini, banokuphila ubomi obonwabisayo nobanelisayo.
• Khumbula, awuwedwa. Funa uncedo koogqirha, abacebisi, kunye nabazali babantwana abanale meko.

Kuqhelekile ukuba uzive ulusizi kwaye usoyika xa ufumanisa ukuba umntwana wakho une-achondroplasia. Nangona kunjalo, ngolwazi olufanelekileyo kunye nenkxaso, wena nomntwana wakho ninokuphumelela kolu hambo.

I- Achondroplasia, i-dwarfism, i-skeletal dysplasia, izifo zemfuza, uphuhliso lwamathambo, i-FGFR3 gene, uphuhliso lomntwana, i-hypotonia, i-hydrocephalus, i-sleep apnea