Ngaba umntu osondeleyo kuwe uneCoffin-Lowry Syndrome? Makhe sithethe ngayo!

Ngaba wakha weva ngemeko ebizwa ngokuba yiCoffin-Lowry Syndrome (CLS)? Eli gama lisenokuba litsha kuwe. Yimeko engaqhelekanga, yemfuza engaqhelekanga kubantu abaninzi. Inokuchaphazela amalungu ahlukeneyo omzimba ngeendlela ezahlukeneyo. Makhe sithethe ngayo ngendlela elula onokuyiqonda.

Ixhaphake kangakanani le meko?

Enyanisweni, le `(Coffin-Lowry Syndrome)` ayiqhelekanga kakhulu. Ukuchaneka, izazinzulu zithi iyenzeka kumntu omnye kwabangama-50,000 ukuya kwabayi-100,000. Oko kuthetha ukuba yimeko engaqhelekanga kakhulu. Enye into kukuba kwiimeko ezininzi, oko kukuthi, phakathi kwama-70% nama-80%, akukho mntu kusapho osenokuba wayenale meko ngaphambili. Oko kuthetha ukuba iimeko ezingaqhelekanga zezona zixhaphakileyo.

Ngubani onokuba nethuba elikhulu lokufumana le meko?

Le meko `(CLS)` inokuchaphazela amakhwenkwe namantombazana. Nangona kunjalo, iimpawu zihlala zinzima kakhulu kubafana. Ngokukodwa, amakhwenkwe ane `(CLS)` adla ngokuba nokukhubazeka kwengqondo okunzulu. Nangona kunjalo, imeko yahlukile kancinci kumantombazana. Amanye amantombazana anokuba nobukrelekrele obuqhelekileyo, ngelixa amanye anokuba nokukhubazeka kwengqondo okuncinci, okuphakathi, okanye okuqatha. Iyahluka ukusuka komnye umntu ukuya komnye.

Kutheni oku kusenzeka? Zithini izizathu zoku?

Ixesha elininzi, i-Coffin-Lowry syndrome ibangelwa kukuguquka kwejini ebizwa ngokuba yi-`RPS6KA3` emzimbeni wethu. Ngoku usenokuba uzibuza ukuba yintoni ijini, akunjalo? Ngamafutshane, iijini zifana neseti yemiyalelo emincinci emzimbeni wethu. Izinto ezifana nombala weenwele zethu, ukuphakama, kunye nombala wolusu zimiselwa zezi jini. Ngoko ke, le jini ye-`RPS6KA3` yenza iproteni ekhethekileyo enceda iiseli zethu "zithethe" omnye komnye, oko kukuthi, ukutshintshiselana ngolwazi. Xa kukho isiphene, oko kukuthi, utshintsho, kule jini, ukuveliswa kwale protein emzimbeni kuyehla. Nangona kunjalo, izazinzulu azikacaci ngokupheleleyo malunga nendlela ukwehla kwale protein okunxulumene ngayo ne-Coffin-Lowry syndrome.

Kukho amaxesha apho abanye abantu banemeko ethi `(CLS)` kodwa akukho tshintsho lufumanekayo kwijini yabo ethi `RPS6KA3`. Kwimeko ezinjalo, unobangela wale meko useyimfihlakalo.

Zithini iimpawu zoku?

Iimpawu zeCoffin-Lowry syndrome zinokwahluka kakhulu kumntu nomntu. Njengoko bekutshiwo ngaphambili, zinzima kakhulu kubafana. Ezi mpawu zichaphazela amalungu ahlukeneyo omzimba kwaye zibonakala ngakumbi xa abantu bekhula.

Iimpawu ezikhethekileyo ezibonakalayo ebusweni

Kukho iimpawu ezithile ezinokubonwa kwinkangeleko yobuso babantu abanale meko. Nazi:

• Amehlo abekwe kude kancinci kunesiqhelo, kwaye iikona zamehlo zibonakala ngathi zihla kancinci.
• Iindlebe zinkulu kunesiqhelo kwaye zibekwe phantsi.
• Ibunzi, amashiya, nesilevu zibonakala ngokucacileyo.
• Impumlo iphakanyisiwe kwaye iimpumlo zibanzi.
• Umlomo ubanzi kwaye imilebe ityebile.

Iimpawu ezikhethekileyo ezinokubonwa ezandleni

Ezinye iinguqu zinokubonwa nakwizandla:

• Iminwe enamalungu amabini.
• Iminwe ityebile ezantsi kwaye ibhityile ukuya eziphelweni (`iminwe ethambileyo`).
• Izandla zivakala zinkulu kwaye zithambile.

Iingxaki ezinokubonwa kwithambo

Kusenokubakho nezinye iingxaki ngamathambo omzimba:

• I-hunchback, oko kuthetha ukuma okugobileyo (`kyphosis` okanye `scoliosis`) ibonakala.
• Iingxaki zamazinyo; umzekelo, utshintsho kwimo yomlomo, amazinyo angekhoyo, njl.
• Ithambo eliphakathi lesifuba liphuma phambili okanye litshone ngaphakathi.
• Ukufinyezwa kwamathambo amade emilenze (umz., i-femur, i-tibia, kunye ne-humerus).
• Ubufutshane bobude (ubufutshane bobude).
• Intloko incinci kunobukhulu obuqhelekileyo (iMicrocephaly).

Ezinye iimpawu eziqhelekileyo

Ukongeza koku, ezinye iimpawu zingabonakala:

• Ukulibaziseka kophuhliso kunye nokukhubazeka kwengqondo.
• Uhlaselo lokuwa: Oku kukhethekile kancinci. Khawuthelekelele, xa besabela kwisandi esikhawulezileyo, isiganeko esikhawulezileyo, okanye imvakalelo enamandla, bawa phantsi ngequbuliso, bebonakala bengazi nto. Into engaqhelekanga kukuba, bayazi kakuhle ngelo xesha, kodwa abakwazi ukulawula imizimba yabo. Oku kubizwa ngokuba yi-`(Stimulus-induced drop episodes)`.
• Ukuphazamiseka kokuva.
• Ulusu lukhululekile kwaye luyolulekile.
• Iingxaki zentliziyo, zesibindi, okanye zezintso.
• Ubhontsi omkhulu omfutshane.
• Ubunzima bokuthetha.
• Ubuthathaka bemisipha kunye nokuphelelwa ngamandla.

Uyibona njani le meko?

Kukho iindlela ezininzi ugqirha anokuxilonga ngazo iCoffin-Lowry syndrome:

• Ukubeka esweni iimpawu: Ugqirha uhlola umntwana ngononophelo ukuze abone ukuba unazo na iimpawu ezithile ezikhankanyiweyo apha ngasentla.
• Uvavanyo lwemfuza: Uvavanyo lwezidlele okanye uvavanyo lwegazi lunokuqinisekisa ukuba kukho utshintsho kwimfuza ye-RPS6KA3.
• Ii-X-reyi: Ii-X-reyi zinokunceda ukubona iziphumo kumqolo, iminwe, kunye namathambo amade.
• Iiskeni zobuchopho (`Izifundo zeNeuroimaging`): Nangona ezi zisetyenziselwa ukufunda okungakumbi ngengqondo, zodwa azinakuyichonga ngokuqinisekileyo le sifo.

Ngaba ikho indlela yokunyanga le nto? Zithini iindlela zonyango?

Ngelishwa, akukho nyango okanye unyango oluthile lweCoffin-Lowry syndrome. Injongo ephambili kukulawula imeko, ukunciphisa iimpawu, kunye nokunceda abantu baphile ubomi obuhle nobonwabisayo kangangoko kunokwenzeka.

Abantu abanale meko banokufuna ukubona iingcali ezininzi rhoqo. Umzekelo:

• Iingcali zendlebe: Aba ngabona bajongana neengxaki zokuva.
• Iingcali zentliziyo: Aba ngabantu abaxilonga baze banyange iingxaki zentliziyo.
• Iingcali ze-Neurology: Aba ngoogqirha abanyanga iingxaki ezinxulumene nengqondo kunye nenkqubo ye-nervous.
• Iingcali zamehlo: Kwiingxaki ezinxulumene nombono.
• Iingcali zamathambo: Aba ngabantu abanyanga iingxaki zamathambo, amalungu kunye nomqolo .
• Iingcali zamazinyo: Malunga namazinyo nempilo yomlomo.
• Iingcali zonyango lomsebenzi: Nceda abantu benze imisebenzi yemihla ngemihla, njengokutya nokubhala, ngempumelelo.
• Iingcali zonyango lomzimba: Zinceda ukuphucula amandla omzimba kunye nokuhambahamba.
• Iingcali zonyango lokuthetha: Zinceda kwiingxaki zokuthetha kunye nokulibaziseka.

Kwiziqendu zokwehla ezikhankanyiweyo ngaphambili, ugqirha angakunika amayeza okuthomalalisa ukuxhuzula okanye amayeza okulwa nokuxhalaba. Ukukhubazeka okukhulu kwamathambo kunokufuna utyando.

Ugqirha wakho unokucebisa ukuba ufumane ingcebiso ngemfuza.

Ndingayithintela na le nto ukuba ingenzeki kumntwana wam?

Izazinzulu azikayazi kakuhle into ebangela olu tshintsho lwemfuza, okanye into ebangela oko kuthiwa 'ziimeko ezingaqhelekanga'. Ke ngoko, okwangoku akukho ndlela yokuthintela i-Coffin-Lowry syndrome. Umama onesi sifo unethuba elingama-50% lokuba umntwana wakhe azuze esi sifo. Uvavanyo lwemfuza ngaphambi kokuzalwa lunokufumanisa ukuba kukho olu tshintsho lwemfuza ngexesha lokukhulelwa. Ugqirha wakho unokucebisa ukuba amalungu osapho asondeleyo afumane iingcebiso ngemfuza.

Kuza kwenzeka ntoni ukuba mna okanye umntwana wam unale meko? Liza kuba njani ikamva?

Ngoku usenokuba ucinga, "Owu, ukuba umntwana wam unale meko, ikamva lakhe liza kuba njani ?" Enyanisweni, ayinguye wonke umntu oneCoffin-Lowry Syndrome ofanayo. Abanye abachaphazeleki kangako, abanye bachaphazeleka kancinci. Ke ngoko, oko ikamva likuphathele umntu ngamnye kuyahluka. Kuxhomekeke ekubeni zeziphi iindawo zomzimba ezichaphazelekileyo kunye nokuba iziphumo zinzima kangakanani.

Eyona nto ibalulekileyo kukuba nomntwana onesi sifo angaphumelela ebomini kangangoko anako ukuba ufumana inkxaso, unyango kunye nothando olufunekayo.

Ngaba isifo seCoffin-Lowry singasongela ubomi?

Le meko inokunciphisa ixesha lokuphila ukuya kuthi ga kwinqanaba elithile. Ezinye izifundo zibonise ukuba malunga ne-13.5% yamakhwenkwe kunye ne-4.5% yamantombazana anale meko ayafa, ngokomyinge, xa eneminyaka engama-20.5 ubudala. Nangona kunjalo, oku akuqhelekanga kuwo wonke umntu.

Yintoni enye endingayibuza ugqirha wam ngale nto?

Ukuba wena okanye umntwana wakho une-CLS, ungabuza ugqirha wakho imibuzo efana nale:

• "Zeziphi iindawo zomzimba wam/womntwana wam ezichaphazeleka yile meko?"
• "Ngaba kukho naziphi na iziphumo ezisongela ubomi ezivela kwezi ziphumo?"
• "Luhlobo luni lweengcali esifanele sizibone? Sifanele sizibone kangaphi?"
• "Ngaba ucebisa amayeza okanye utyando kule nto?"
• "Ngaba kukho amaqela enkxaso anokusinceda siphile nale meko?"
• "Ucinga ukuba kungaba ngumbono olungileyo ukufumana ingcebiso ngemfuza kwimeko yethu?"
• "Ingaba licebo elihle na ukufumana uvavanyo lwemfuza kusapho lwethu lonke?"

Ngoko ke, zeziphi izinto ezibalulekileyo ekufuneka sizikhumbule kuzo zonke ezi zinto? (Umyalezo Wokubuyela Ekhaya)

I-Coffin-Lowry Syndrome (CLS) yimeko engaqhelekanga, yemfuza yokuzalwa enokuchaphazela amalungu amaninzi omzimba. Iimpawu ziyahluka kumntu nomntu, kodwa iimpawu zobuso, ukukhubazeka kwamathambo, kunye nokukhubazeka kwengqondo ziqhelekile.

Nangona kungekho nyango lucacileyo loku, ungafuna uncedo kwiingcali ezahlukeneyo kunye neengcali zonyango ukulawula iimpawu zakho kwaye uphile ubomi bakho kangangoko unako.

Ukuba ukrokrela okanye ufunyaniswe ukuba unale meko, nceda ufune ingcebiso kagqirha. Baza kukunika ulwalathiso nenkxaso oyifunayo. Khumbula, awuwedwa. Kukho izixhobo kunye namaqela enkxaso anokunceda iintsapho ezijongene nezi meko.

Isifo seCoffin -Lowry, i-CLS, ukungaqheleki kwemfuza, iziphene zokuzalwa, ukukhubazeka kwengqondo, ukukhubazeka kwamathambo, ukuhlaselwa ngamaconsi