Ngaba umntwana wakho unengxaki yokuhamba? Masifunde ngeFriedreich's Ataxia!

Ngaba umntwana wakho uyaxengaxenga kancinci xa ehamba okanye ebaleka? Ngaba wakha waziva ngathi unobunzima bokugcina ibhalansi? Okanye ngaba kuqhelekile ukuziva usoyika kwaye ukhathazekile xa ubona iimpawu ezinjalo kumntwana omncinci? Namhlanje siza kuthetha ngemeko yemfuza engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele ngamaxesha anjalo. Oku kubizwa ngokuba yiFriedreich's ataxia, okanye `(FA)` okanye `(FRDA)` ngamafutshane.

Yintoni iFriedreich's Ataxia?

Ngamafutshane, iFriedreich's Ataxia yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana. Oku kubangela ukuba inkqubo yethu yemithambo-luvo iwohloke kancinci kancinci, nto leyo ebangela iingxaki ngokunyakaza kwemizimba yethu. Ngokuchanekileyo, amandla okulawula izihlunu zethu ayancipha. Oku sikubiza ngokuba yi-"Ataxia." Le meko idla ngokuba mandundu ngokuhamba kwexesha.

Uninzi lwexesha, ezi mpawu ziqala ebuntwaneni. Oko kukuthi, ngexesha lobuntwana. Kodwa oku akupheleli nje ekuchaphazeleni inkqubo yemithambo-luvo. Kungachaphazela neendawo ezifana nenkqubo yakho yamathambo, intliziyo, kunye nepancreas. Kodwa iindaba ezimnandi zezokuba, azichaphazeli amandla akho okucinga, oko kukuthi, amandla akho engqondo (Cognitive Functions).

I-Friedreich's ataxia yenye yezona ntlobo zixhaphakileyo ze-ataxia yelifa, kodwa sisifo esingaqhelekanga kakhulu ngokubanzi. E-United States, sichaphazela malunga nomntu omnye kubantu abangama-50,000. Kwihlabathi liphela, sichaphazela malunga nomntu omnye kubantu abangama-40,000. Esi sifo safunyanwa okokuqala saza sachazwa ngo-1863 ngugqirha ogama linguNicholas Friedreich. Yiyo loo nto sibizwa ngegama lakhe.

Kuqhelekile ukuziva usoyika xa umntwana wakho eqala ukuba nengxaki yokuhamba okanye elahlekelwa yibhalansi yakhe. Usenokuba uzibuza, "Kuza kuqhubeka ixesha elingakanani oku? Oku kuza kuyichaphazela njani ubomi bomntwana wam?" Eyona nto ingcono onokuyenza kukubona ugqirha ochwephesha kwezi meko. Ngale ndlela, unokufumana iimpendulo kwimibuzo yakho kwaye ufumane inkxaso oyifunayo kolu hambo.

Ngaba kukho iintlobo ezahlukeneyo zeFriedreich's ataxia (FA)?

Ewe, i-"ataxia" eqhelekileyo kaFriedreich idla ngokubonakala ngaphambi kokuba ifikelele kwiminyaka engama-25. Nangona kunjalo, kukho ezinye iintlobo ezimbini ezingaqhelekanga. Ezi zibalo zimalunga ne-15% yazo zonke iimeko ze-FA:

• I-Friedreich's ataxia (LOFA) eqala emva kwexesha: Kolu hlobo, iimpawu zibonakala emva kweminyaka engama-25 ubudala.
• I-Friedreich's ataxia (VLOFA) eqala kade kakhulu: Apha, iimpawu ziqala emva kweminyaka engama-40 ubudala.

Ezi ntlobo zimbini, `(LOFA)` kunye `(VLOFA)`, zinzima kancinci kune `(FA)` eqhelekileyo.

Zithini iimpawu zale meko?

Iimpawu zeFriedreich's ataxia zihlala ziqala phakathi kweminyaka emi-5 neli-15 ubudala. Nangona kunjalo, abanye abantu banokuzibona bekwiminyaka emi-2 ubudala, abanye bekwiminyaka engama-50 ubudala.

Iimpawu zokuqala ezibonakalayo

Iimpawu zokuqala ze-neurological ezibonakala ziingxaki zokuma, ukuhamba, kunye nokulinganisela (ezibizwa ngokuba yi-Gait Ataxia). Ekuhambeni kwexesha, ezi mpawu ziya zisiba mandundu kancinci kancinci, kwaye iimpawu ezintsha zinokuvela.

Iimpawu eziphambili ze-`(FA)` ezinxulumene nenkqubo yemithambo-luvo zezi:

• Ubuthathaka bemisipha.
• Ukulahlekelwa yibhalansi kunye nokulungelelaniswa (i-Ataxia).
• Ukulahlekelwa yimvakalelo yokuchukumisa (oku kubizwa ngokuba yi-`(Peripheral Neuropathy)`).
• Ubuthathaka be-reflexes (Hyporeflexia).

Ungafumana ezi mpawu apha:

• Ubunzima bokuma, ukuhamba, nokubaleka.
• I-Chorea kukungcangcazela nokungcangcazela kwamalungu ngaphandle kokuzithandela.
• Ukulahlekelwa yimvakalelo eqala emilenzeni ize isasazeke kwiingalo nakwisisu.
• Ukudinwa rhoqo.
• Xa uthetha, amagama ayabhideka kwaye intetho iyacotha (iDysarthria).
• Ubunzima bokuginya ukutya (i-Dysphagia).
• Ukuxinezeleka kukuziva ukuqina kwemisipha.
• Ukulahlekelwa yimvakalelo yesikhundla somzimba wakho (Ukulahlekelwa yi-`(Proprioception)`).
• Ukulahlekelwa Kukuva.
• Ukulahleka Kokubona.
• I-Scoliosis kunye/okanye ukukhubazeka kweenyawo. Umzekelo, iinyawo ezijika zingene ngaphakathi, ii-arches eziphakamileyo, kunye neenyawo ezimfutshane (Pes Cavus).

Khawucinge nje, kukho umntwana oneminyaka esi-8 ubudala ogama linguSadun. Wayengumdlali obalaseleyo nodlala naye. Kodwa kangangexesha elithile ngoku, ebekhubeka xa ehamba, ngokungathi akanakuzinza. Nokuba udlala esikolweni, uyawa xa ebaleka nabahlobo bakhe. Ekuqaleni, abazali bakhe babecinga ukuba yinto encinci. Kodwa kuphela xa bambonisa ugqirha apho baqala khona ukwazi ngale `(FA)`.

Ezinye iingxaki ezinokubakho ngenxa ye-Friedreich's ataxia (FA)

Malunga nama-75% abantu abane-FA banokuba nesifo sentliziyo. Ezona zixhaphakileyo zezi:

Iziphumo entliziyweni

• I-Cardiac Autonomic Neuropathy.
• I-hypertrophic cardiomyopathy.
• Ukuphazamiseka kwentliziyo (i-Arrhythmia).

Ukongeza, ezinye iingxaki zentliziyo ezinokubakho ngenxa ye-`(FA)` ziquka:

• I-Myocarditis.
• Ukuvaleka kwemisipha yentliziyo (Myocardial Fibrosis).
• Ukwanda kwentliziyo (iCardiomegaly).
• Ukusilela kwentliziyo okubangelwa kukunganyamezelani.
• Ukubetha kwentliziyo ngokukhawuleza (iTachycardia).
• I-Atrial fibrillation.
• Ibhloko yentliziyo.

Umngcipheko wokuba nesifo seswekile

I-FA inokonakalisa iiseli kwi-pancreas yakho ezivelisa i-hormone ye-insulin. I-insulin ibalulekile ekulawuleni amanqanaba eglucose egazini. Ngoko ke, xa kungekho insulin yaneleyo, amanqanaba eswekile egazini ayanda, nto leyo ebangela i-hyperglycemia. Oku kunokukhokelela kwisifo seswekile. Malunga nama-30% abantu abane-FA baba nesifo seswekile.

Yintoni isizathu sale nto? Ingaba yimpembelelo yemfuza?

Ewe, i-Friedreich's ataxia yimeko yemfuza ngokupheleleyo. Ibangelwa lutshintsho, okanye utshintsho, kwi-gene ebizwa ngokuba yi-``FXN''. Le gene inekhowudi yokwenza iproteni ebaluleke kakhulu emzimbeni wethu, i-``Frataxin'' .

I-Frataxin yiproteni esebenza kwi-mitochondria.

I-Frataxin yiproteni efumaneka kwi -mitochondria , iindawo ezivelisa amandla kwiiseli zethu. Nangona izazinzulu zingakayiqondi ngokupheleleyo indlela esebenza ngayo, zifumanise ukuba i-frataxin ibalulekile ekusebenzeni ngokuqhelekileyo kwe-mitochondria. Utshintsho lwezakhi zofuzo olubangela i-frataxin (FA) luyithintela ngokupheleleyo imveliso yeproteni ye-frataxin.

Xa singenayo i-frataxin eyaneleyo, ezinye zeeseli zomzimba wethu azikwazi ukuvelisa amandla ngokufanelekileyo. Kwakhona, iimveliso ezinobungozi ziqala ukuqokelelana. Oku kubizwa ngokuba yi -oxidative stress . Oku konakalisa iiseli zethu.

Iiseli kwezi ndawo zilandelayo zichaphazeleka kakhulu yi-`(FA)`:

• Imiva yePeripheral.
• Umqolo.
• Ingqondo, ingakumbi i-cerebellum.
• Imisipha yentliziyo.

Le yiPateni yeLifa le-Autosomal Recessive.

I-Friedreich's ataxia yenzeka kuphela ukuba ufumana iikopi ezimbini eziguquliweyo ze-gene (FXN), ezivela kumama wakho nakutata wakho. Oogqirha bathi oku yi-autosomal recessive inheritance pattern .

Bobabini abazali bomntu onesi sifo badla ngokuba nekopi enye yejini eguquliweyo (oko kukuthi, bangabathwali ). Kodwa abasoloko bebonisa zimpawu. Khawucinge nje, ukuba bobabini abazali bangabathwali, xa benomntwana:

• Kukho ithuba elingama-25% lokuba umntwana abe ne-`(FA)` (ukuba zombini ii-genes eziguquliweyo zizuzwe njengelifa).
• Kukho amathuba angama-50% okuba umntwana abe ngumthwali (ukuba i-gene enye eguquliweyo izuzwe njengelifa).
• Kukho amathuba angama-25% okuba umntwana abe sempilweni ngaphandle kokufumana iijini eziguquliweyo.

Uyixilonga njani le nto kanye? (Uxilongo)

Okokuqala, ugqirha womntwana wakho uza kubuza ngeempawu kunye nembali yezonyango zosapho. Emva koko uza kwenza uvavanyo olupheleleyo lomzimba kunye novavanyo lwemithambo-luvo.

Okulandelayo, ugqirha usenokucebisa iimvavanyo ezahlukeneyo.Uvavanyo lwemfuza lolona vavanyo luphambili olunokuqinisekisa i-Friedreich's ataxia. Ukongeza, olu vavanyo lulandelayo lunokwenziwa ukunceda ekuxilongweni kunye/okanye ukujonga iindawo zomzimba ezinokuchaphazeleka yi-(FA):

• I-MRI okanye i-CT scan: Ezi zinokuthatha imifanekiso yengqondo yakho kunye nomqolo. Ezi zinokunceda ugqirha wakho ukuba angazifumani ezinye iingxaki zemithambo-luvo.
• Izifundo ze-Electromyogram (EMG) kunye ne-Nerve Conduction: Ezi mvavanyo zivavanya indlela ezisebenza ngayo izihlunu zakho kunye nemithambo-luvo.
• I-Electrocardiogram (ECG/EKG): Oku kubonisa umsebenzi wombane wentliziyo yakho, oko kukuthi, indlela yokubetha kwentliziyo.
• I-Echocardiogram: Le inika imifanekiso yeentshukumo zentliziyo yakho.
• Uvavanyo lwegazi: Kunokwenziwa uvavanyo lwegazi oluthile ukujonga izinto ezifana namanqanaba eswekile egazini kunye namanqanaba evithamini E.

Ziziphi iindlela zonyango zeFriedreich's ataxia (FA)?

Ezi ziindaba ezimnandi ngokwenene! Ngowama-2023, i-US Food and Drug Administration (FDA) yavuma iyeza lokuqala ngokukodwa le-Friedreich's ataxia. Libizwa ngokuba yi -Omaveloxolone (SKYCLARYS™) . Lingasetyenziswa kubantu abaneminyaka eli-16 nangaphezulu. Izifundo zibonise ukuba eli yeza linokuphucula ukusebenza kwemithambo-luvo kunye nemeko ye-"Ataxia" ukuya kuthi ga kwinqanaba elithile. Uphando olongezelelweyo lwenziwa kwimiphumo yexesha elide yale yeza.

Nangona kunjalo, i-Omaveloxolone ayilonyango lwe-FA. Ukongeza kweli yeza, injongo ephambili yonyango kukulawula iimpawu kunye neengxaki ze-FA kunye nokukunceda uphile ubomi obusempilweni kangangoko unako. Olu nyango lungabandakanya:

• Unyango Lomzimba: Gcina ukusebenza kwezihlunu ixesha elide, uphucule ulungelelwaniso, ibhalansi, kunye namandla.
• Unyango lokuthetha: Ukuphucula intetho nokuginya ngokuqeqesha kwakhona izihlunu zolwimi nobuso.
• Iibraces okanye utyando lweengxaki ezinxulumene namathambo ezifana nokukhubazeka kweenyawo kunye ne-scoliosis.
• Ukuba uneengxaki zentliziyo, thatha amayeza azo.
• Ukuba unesifo seswekile, thatha amayeza aso.
• Unyango lokulawula iintlungu.
• Ii-antibiotics zokuthintela okanye zokunyanga izifo.
• Izixhobo ezinceda ekuhambeni, umzekelo izihlangu ezikhethekileyo, iintonga, izitulo ezinamavili.
• Ukufakelwa intliziyo lunyango lwe-FA encinci, kodwa ukuba kukho isifo sentliziyo esibalulekileyo.

Ukuze ulawule i-FA, uya kufuna uncedo lweqela loogqirha elinamacandelo amaninzi. Eli qela lingabandakanya:

• Iingcali ze-neurological.
• Iingcali zentliziyo.
• Iingcali zezofuzo kwezonyango nakwi-Biochemical.
• Iingcali ze-Endocrinologists ngoogqirha abaziingcali kwinkqubo ye-endocrine.
• Iingcali zonyango lomzimba.
• Iingcali zeengxaki zokuthetha nolwimi.
• Iingcali zonyango emsebenzini.
• Iingcali zotyando lwamathambo.
• Iingcali zengqondo.

I-Friedreich's ataxia ichaphazela wonke umntu ngendlela eyahlukileyo kwaye ikhula ngamanqanaba ahlukeneyo. Iqela lezonyango lomntwana wakho liza kuyila isicwangciso sonyango esilungiselelwe iimpawu zomntwana wakho kwaye sinokulungiswa njengoko ekhula.

Ngaba ikho indlela yokuthintela oku?

Ngenxa yokuba i-Friedreich's ataxia ibangelwa lutshintsho lwemfuza, akukho nto unokuyenza ukuyithintela. Nangona kunjalo, ukuba uceba ukuba nabantwana, ungathetha nogqirha wakho okanye nomcebisi wezemfuza malunga novavanyo ukuze ufumane umngcipheko wokuba nomntwana onesimo semfuza esifana ne-Friedreich's ataxia.

Ithini ingqikelelo yomntu oneFriedreich's ataxia (FA)?

Eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba ayinguye wonke umntu oneFriedreich's ataxia ochaphazeleka ngendlela efanayo. Akukho mntu unokukuxelela ngqo ukuba ikamva lakho liza kuba njani. Eyona nto ingcono onokuyenza ukulungiselela ikamva kukuthetha neengcali eziphanda kwaye zinyange iFriedreich's ataxia.

Malunga nobude bobomi

Ngenxa yokuba i-Friedreich's ataxia yimeko eba mandundu ngokuhamba kwexesha, ixesha lokuphila kwabantu abane-`(FA)` linokuba lifutshane kancinci kunelo labantu ngokubanzi. Isizathu esiphambili sokufa kubantu abane-`(FA)` yimeko ebizwa ngokuba yi-`Hypertrophic Cardiomyopathy`.

Kodwa i-FA ayichaphazeli wonke umntu ngendlela efanayo. Uninzi lwabantu abane-FA baphila ubuncinane bade bafikelele kwiminyaka yabo engama-30. Abanye baphila bade bafikelele kwiminyaka yabo engama-60 okanye nangaphezulu.

Ufanele ufune nini ingcebiso kagqirha?

Ukuba wena okanye umntwana wakho uneFriedreich's ataxia, kufuneka nibone iqela lezonyango rhoqo ukuze nifumane unyango kwaye nijonge iimpawu.

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho uneFriedreich's Ataxia (FA). Kodwa iqela lakho lezonyango liza kuyila isicwangciso sonyango esilungiselelwe iimpawu zomntwana wakho. Eyona nto ibalulekileyo kukunika umntwana wakho uthando kunye nenkxaso ayidingayo ebomini bakhe bonke, kwaye uqaphele naziphi na iimpawu ezintsha ezinokuvela. Ungalibali ukuzinyamekela nawe. Ukuba kuyimfuneko, joyina iqela lenkxaso, okanye ucele uncedo kumcebisi ukuba uxinezelekile.

Khumbula njengesishwankathelo (Umyalezo Wokuya Ekhaya)

I-Friedreich's Ataxia (FA) sisifo esingaqhelekanga, esizuzwe njengelifa esichaphazela kakhulu inkqubo yemithambo-luvo, nto leyo ebangela iingxaki zokunyakaza (ingakumbi i-ataxia - ukulahleka kokulinganisela).

• Isizathu: Utshintsho kwi-gene ebizwa ngokuba yi-``(FXN)`` lubangela ukwehla kweproteni ye-``Frataxin```.
• Iimpawu:Ubunzima bokuhamba, ukulahlekelwa kukulinganisela, ubuthathaka bemisipha, ubunzima bokuthetha, isifo sentliziyo, kunye nesifo seswekile zinokubakho.
• Uxilongo: Ngokuyintloko luvavanyo lwemfuza.
• Unyango: Ulawulo lweempawu, unyango lomzimba, unyango lokuthetha, kunye neyeza elitsha elivunyiweyo i-Omaveloxolone.
• Kubalulekile: Kubalulekile ukuxilonga isifo kwangethuba, ukufuna inkxaso yeqela lezonyango eliyingcali, kunye nothando nenkxaso yosapho. Kubalulekile ukungoyiki, kodwa ukwenza ngokweenkcukacha ezichanekileyo kunye neengcebiso zonyango.

I- Friedreich's Ataxia, i-FA, izifo zemfuza, inkqubo yemithambo-luvo, iingxaki zokuhamba, i-ataxia