Ngaba umntwana wakho omncinci unale meko imbi yokuxhuzula? Masifunde ngeDravet Syndrome!

Ubungoyika kangakanani ukuba umntwana wakho omncinci, okanye usana olungaphantsi konyaka omnye ubudala, ngequbuliso luba nokuxhuzula okukhulu okunomkhuhlane kwaye kuthathe imizuzu engaphezu kwemihlanu? Kungaba luphawu lokuqala lwesifo esingaqhelekanga nesinokuba yingozi esibizwa ngokuba yiDravet Syndrome. Kule meko, abantwana banokuba neentlobo ezahlukeneyo zokuxhuzula. Akupheleli apho, banokuba nezinye iimpawu ezininzi, ezinje ngobunzima bokuthetha, iingxaki zokuhamba, kunye nokulibaziseka ekufundeni. Ungakhathazeki, masithethe ngale nto ngokweenkcukacha.

Zithini iimpawu zeDravet Syndrome?

Uphawu lokuqala lomntwana one-Dravet Syndrome kukuxhuzula . Oku kudla ngokuvela ngaphambi kokuba umntwana abe nonyaka omnye ubudala. Oku kuxhuzula kokuqala kunokubonakala ngolu hlobo:

• Kungathatha imizuzu engaphezu kwemihlanu .
• Idla ngokuvela xa kukho umkhuhlane, esinye isifo, okanye amaqondo obushushu aphezulu okusingqongileyo.
• Ukudumba kwemisipha okungalawulekiyo (esikubiza ngokuba kukudumba) kusenokubakho.
• Ingachaphazela icala elinye lomzimba okanye amacala omabini kuphela.

Emva kokuba umntwana egqibe unyaka omnye ubudala, ezinye iintlobo zokuxhuzula zinokwenzeka. Ezi zinokwenzeka ngaphandle komkhuhlane. Oku kuthetha ukuba ukuxhuzula kunokubakho ngaphandle kokunyuka kobushushu. Ezi ntlobo zahlukeneyo zokuxhuzula zezi:

• Ukuxhuzula okungekhoyo: Ukulahlekelwa zingqondo ngequbuliso, ngokungathi umile ungashukumi. Kodwa oku kwenzeka ixesha elifutshane kakhulu.
• Ukuxhuzula kwe-Atonic: Ukulahlekelwa ngequbuliso kulawulo lwemisipha, nto leyo ebangela ukuba umzimba ubonakale ngathi uyatyhafa.
• Ukuxhuzula kweHemiclonic: Izihlunu ziyashukuma kwicala elinye lomzimba.
• Ukuxhuzula okujoliswe kwingcinga: Kunokubakho ukulahleka kwengqondo okwethutyana, ukulahlekelwa kukulawula izihlunu, kunye neemvakalelo ezingaqhelekanga.
• Ukuxhuzula kwe-Myoclonic: Ukuxhuzula okuncinci ngequbuliso okubonakala ngathi kushukumisa izihlunu.
• Ukuxhuzula kwe-Tonic-clonic: Olu lolona hlobo luqhelekileyo lokuxhuzula esilubonayo. Umzimba uyaxhuzula ngokungalawulekiyo.

Ukongeza kwezi mpawu zokuxhuzula, abantwana abaneDravet Syndrome banokufumana ezinye iimpawu. Ezi ziquka:

• Ukulibaziseka kophuhliso: Ukulibaziseka kophuhliso lolwimi, ingakumbi ekuphuhlisweni kwentetho, kunokubonwa.
• Iingxaki zokuziphatha: Ngamanye amaxesha unokuziphatha ngendlela erhabaxa.
• Iingxaki zophuhliso lwe-neurodevelopmental: Umzekelo, iimeko ezifana ne-'ADHD' (Attention Deficit Hyperactivity Disorder).
• Ubunzima bokulinganisela kunye nokulungelelanisa: Kunokuba nzima ukugcina ulungelelwano olufanelekileyo xa uhamba.
• Ubunzima bokushukuma: Ungaphawula ukungcangcazela okanye ukuhamba okungazinzanga.
• Ubuthathaka bemisipha (hypotonia): Ukuncipha kwethoni yemisipha.
• Iingxaki zokulala: Izinto ezifana nokungakwazi ukulala, ukuvuka rhoqo.
• Iingxaki zokukhula nezondlo: Izinto ezifana nokutyeba kancinci, ukungabi namdla wokutya.
• I-Dysautonomia: Oku kuthetha ubunzima bokulawula izinto ezifana nobushushu bomzimba, isantya sentliziyo, kunye noxinzelelo lwegazi.

Yintoni ebangela iDravet Syndrome?

Eyona nto ibangela iDravet Syndrome idla ngokuba yimfuza eyahlukileyo kwijini ebizwa ngokuba yi-`SCN1A` . Le jini ye-`SCN1A` ixelela iiseli zethu ukuba zenze imijelo yesodium ethwala ii-ion zesodium (iiathom zesodium ezitshajiweyo kakuhle). Ezi mijelo zinceda iiseli zethu zengqondo ukuba zenze kwaye zithumele imiqondiso yombane.

Ngamafutshane, cinga ngale gene ethi 'SCN1A' njenge 'iresiphi yokupheka' yokwenza imijelo yesodium esebenza njenge 'gates' kwiiseli zethu zobuchopho. Ukuba kukho impazamo encinci kule 'resiphi', oko kukuthi, utshintsho lwezakhi zofuzo, ezo 'gates' azenzi kakuhle. Emva koko ukudluliselwa kwemiyalezo phakathi kweeseli zobuchopho, oko kukuthi, 'neurotransmission', kuyaphazamiseka. Yiyo loo nto iimpawu ezifana nokuxhuzula zivela.

Ingaba le yinto yemfuza?

Ewe, iDravet Syndrome yimeko yemfuza . Kodwa uninzi lwexesha, yimeko eyenzeka ngamaxesha athile. Oko kukuthi, yenzeka ngequbuliso, ngaphandle kwembali yangaphambili yentsapho yale meko. Nangona kunjalo, kukho iimeko apho le meko iye yachaphazela amalungu amaninzi osapho kwizizukulwana ezininzi.

Kwiimeko ezingaqhelekanga ze-Dravet syndrome yelifa, utshintsho lunokubakho kwiiseli ezithile zomzali omnye kuphela (oku kubizwa ngokuba yi-'mosaicism'). Okanye, lunokudluliselwa kwisizukulwana ukuya kwesinye ngendlela ye-'autosomal dominant'. Oku kuthetha ukuba umntwana unokulufumana olu tshintsho nokuba ngumzali omnye kuphela onayo.

Kodwa into enye ekufuneka uyikhumbule kukuba ayinguye wonke umntu one-'SCN1A` gene mutation eya kuba neempawu zeDravet Syndrome. Abanye abantu banokuba nale nguqu kodwa bangabi nazo kwaphela iimpawu. Kwakhona, abanye abantu banokuba neempawu zeDravet Syndrome kodwa bangabi nayo i-'SCN1A` gene mutation.

Ngaba kukho naziphi na izinto ezikhethekileyo ezinokubangela oku?

Ukuba omnye wabazali bakho okanye elinye ilungu losapho linesifo sokuwa okanye utshintsho kwijini ethi `SCN1A`, usenokuba sengozini yokuhlaselwa sesi sifo.

Ziziphi iingxaki ezinokubakho zeDravet Syndrome?

Ezona ngxaki zinzima ezinokuvela kule meko zinokuba yingozi ebomini . Ezona ziphambili zezi:

• Ukwenzakala okubangelwa kukuxhuzula.
• Isifo sokuwa: Esi sisifo apho kukho ukuxhuzula okuqhubekayo. Oku kufuna unyango olukhawulezileyo.
• Ukufa Okungacacanga Ngesiquphe Kwisifo Sokuxhuzula (i-SUDEP).

Ugqirha onyanga umntwana wakho uza kukuchazela ukuba zeziphi ezi mpawu zobungozi aze enze nesicwangciso sento omawuyenze xa kukho imeko engxamisekileyo.

Ungayixilonga njani ngokuchanekileyo iDravet Syndrome?

Ugqirha womntwana wakho uza kuqala enze uvavanyo lomzimba ukujonga iimpawu zeDravet Syndrome. Baza kubuza nangembali yezonyango zomntwana wakho kunye namayeza awasebenzisayo.

Ugqirha angakubuza imibuzo efana nale:

• Ngaba ukukhula komntwana bekuqhelekile (okanye kusondele kakhulu) ngaphambi kokuba axhuzule okokuqala?
• Ngaba ukhe waxhuzula kabini okanye ngaphezulu, nokuba unomkhuhlane okanye awunawo, ngaphambi kokuba ufikelele kunyaka omnye?
• Ngaba ezo zixhuzula zithathe imizuzu engaphezu kwemihlanu okanye ngaphezulu?
• Ungachaza okwenzekileyo xa umntwana exhuzula (umzekelo, ngaba umntwana uqhume, ngaba ubumjongile, ngaba ushukumise icala elinye lomzimba wakhe kuphela)?

Ukongeza, ugqirha angenza uvavanyo lwegazi okanye uvavanyo lwamathe ukujonga utshintsho lwe-SCN1A gene. Bangenza novavanyo oluhlola ubuchopho, olufana ne-MRI (Magnetic Resonance Imaging) kunye ne-EEG (Electroencephalogram). Nangona kunjalo, ngamanye amaxesha olu xilongo lunokulibaziseka, njengoko iziphumo zovavanyo lwe-MRI kunye ne-EEG zinokuba zesiqhelo kwizigaba zokuqala.

Inyangwa njani iDravet Syndrome?

Injongo ephambili yonyango kukunciphisa inani lee-seizures ezifunyanwa ngumntwana wakho kunye nobunzima be-seizures . Nangona kunjalo, ngenxa yokuba uhlobo kunye nobude bexesha lomntwana ngamnye zahlukile, ayingomntwana ngamnye osabela ngendlela efanayo kunyango. Ke ngoko, isicwangciso sonyango senzelwe umntu ngamnye. Oku kunokuquka:

• Amayeza okuthintela ukuxhuzula: La mayeza anokunciphisa inani lokuxhuzula umntwana wakho analo. Nangona kunjalo, amanye amayeza anokunyusa inani lokuxhuzula, ngoko ugqirha uya kunyanga oku ngononophelo olukhulu nangokusoloko ejongwa.
• Ukutya okune-ketogenic: Ugqirha angacebisa ukuba umntwana wakho atshintshe indlela atya ngayo. Oku kuquka ukutya okunamafutha amaninzi kunye neecarbohydrate ezincinci.
• Iindlela zonyango: Ukuba kukho ukulibaziseka kophuhliso, iinkqubo zokungenelela kwezemfundo zinokunceda. Unyango lomzimba, lomsebenzi, okanye lokuthetha lunokunceda ekusombululeni iingxaki.

Ngawaphi amayeza anikwayo kwiDravet Syndrome?

I-U.S. Food and Drug Administration (FDA) ivumile la mayeza okunyanga ukuxhuzula okunxulumene ne-Dravet Syndrome kubantu abangaphezu kweminyaka emi-2 ubudala:

• I-Cannabidiol
• I-Fenfluramine
• I-Stiripentol

Eli yeza lifumaneka ngeendlela ezahlukeneyo, njengeepilisi kunye nolwelo, ngoko ke kulula ukuba abantwana abancinci kunye nabantu abadala balisebenzise.

Kubalulekile: Ugqirha wakho angakuxelela ukuba ungasebenzisi amayeza okulwa nokuxhuzula, anjenge-sodium channel blockers ezifana ne-carbamazepine, i-oxcarbazepine, i-lamotrigine, kunye ne-phenytoin, kuba zinokwenza ukuxhuzula kube mandundu.

Ugqirha wakho unokucebisa amayeza angaphezu kwelinye ukulawula uhlobo ngalunye lokuxhuzula. I-International Consensus on Diagnosis and Management of Dravet Syndrome icebisa ukuba uzame la mayeza ngolu hlobo:

• Unyango lokuqala: iValproate
• Unyango lwesibini: iFenfluramine, i-stiripentol, okanye i-clobazam
• Unyango lodidi lwesithathu: iCannabidiol
• Unyango lodidi lwesine: I-Topiramate, ukutya kwe-ketogenic

Amayeza okuhlangula

La ngamayeza anikwa kwiimeko ezingxamisekileyo, njengokuxhuzula okuqhubekayo (`status epilepticus`). Ugqirha womntwana wakho uza kwenza 'isicwangciso sokuthatha amanyathelo okuxhuzula' malunga nento ekufuneka yenziwe ukuba ukuxhuzula kwenzeka ekhaya okanye esikolweni. La mayeza angxamisekileyo anokuthintela ukuxhuzula komntwana wakho. La mayeza adla ngokuba kudidi lwamayeza abizwa ngokuba yi-`benzodiazepines`. Imizekelo:

• I-Clonazepam (`Clonazepam`)
• I-Diazepam (`Diazepam`)
• I-Lorazepam (`I-Lorazepam`)
• I-Midazolam

Eli yeza lifumaneka njenge-spray yempumlo, ijeli ye-rectal, okanye njengeepilisi ezinyibilikayo emlonyeni.

Ithini ingqikelelo yomntwana one-Dravet Syndrome?

Ngugqirha wakho kuphela onokukunika iinkcukacha ezichanekileyo malunga nembono yomntwana wakho, njengoko iyahluka kumntu nomntu. Umntwana wakho unokuba nokuxhuzula okuhlala ixesha elide, rhoqo. Nangona kunjalo, njengoko umntwana wakho ekhula, inani kunye nobude bezi xhuzula zinokwehla. Nangona amayeza enokunciphisa inani kunye nobunzima bexhuzula, awanakukuphelisa ngokupheleleyo ukuxhuzula kumntu oneDravet Syndrome.

Ungalindela ukuba umntwana wakho athathe ixesha elide ukufikelela kwimigangatho yophuhliso kunabanye abantwana abaneminyaka yakhe. Basenokufuna uncedo olongezelelweyo esikolweni. Nangona kunjalo, banokufunda ngesantya esiphantsi njengoko bekhula.

Iqela lezonyango lomntwana wakho linokukuthumela kwiingcali ezahlukeneyo ukunyanga iingxaki ezivelayo njengoko umntwana wakho ekhula. Umzekelo, ugqirha weenyawo unokunceda ngeengxaki zokuhamba ngokumfaka izihlangu ezikhethekileyo (i-orthotics). Okanye, ugqirha we-orthopedic unokunceda ngeengxaki zokuhamba okanye iimeko ezifana ne-scoliosis.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Okwangoku akukho nyango lweDravet Syndrome. Kwakhona, ekubeni iyimeko yemfuza, akukho ndlela yokuyithintela. Nangona kunjalo, uphando luyaqhubeka. Uvavanyo lwezonyango lwemfuza lubonise iziphumo zokuqala ezithembisayo.

Ingakanani iminyaka yobomi bomntwana one-Dravet Syndrome?

Abantu abane-Dravet Syndrome basengozini yokufa kwangethuba ngenxa ye-SUDEP (ukufa ngequbuliso okungaqondakaliyo ngenxa yesifo sokuwa), i-status epilepticus (ukuwa okuqhubekayo), okanye iingozi ezenzeka ngexesha lokuwa. Nangona kunjalo, uninzi lwabantu abanale meko baphila baze babe ngabantu abadala.

Ekubeni imeko yomntwana wakho isenokuhambelana okanye ingahambelani nezibalo, ugqirha womntwana wakho unokukunika ulwazi oluchanekileyo malunga noko unokukulindela.

Ufanele uye nini kugqirha?

Ukuba umntwana wakho unesifo sokuxhuzula esibini okanye ngaphezulu esithatha imizuzu engaphezu kwemihlanu, ingakumbi ukuba sibangelwa ngumkhuhlane, ngaphambi kokuba abe nonyaka omnye ubudala, xelela ugqirha wakho. Oku kungaba luphawu lweDravet Syndrome.

Emva kokuba ufunyaniswe uneDravet Syndrome, kuya kufuneka ubone iqela lezonyango lomntwana wakho rhoqo. Ukuba uqaphela ukuba ukuxhuzula komntwana wakho kuya kusiba mandundu (okuqhelekileyo, okuthatha ixesha elide) emva kokuqala unyango, xelela ugqirha wakho.

Ugqirha wakho uza kukunika iingcebiso ngeempawu ekufuneka uziqaphele xa kukho imeko engxamisekileyo, kunye nento omawuyenze xa kunjalo. Iimpawu ezifuna unyango olungxamisekileyo ziquka:

• Ukuxhuzula okuhlala imizuzu engaphezu kwemihlanu kwaye kubangela ubunzima bokuphefumla.
• Ukuxhuzula okuliqela kwenzeka ngokulandelelana, kodwa umntwana akabuyi engqondweni ngexesha lokuxhuzula.
• Ukuxhuzula kubangela ukwenzakala emzimbeni.

Ndiyaqonda ukuba kuyoyikisa kangakanani ukubukela umntwana wakho exhuzula. Nangona kubuhlungu, akulula ukwazi ukuba into efana naleyo iya kuphinda yenzeke ngenye imini. Le yinyani yokuphila neDravet Syndrome.

Nangona kunjalo, iqela lezonyango lomntwana wakho liza kusebenzisana nawe ukuze liqonde into omawuyilindele ngexesha lokuxhuzula. Liza kukufundisa nendlela yokwenza 'isicwangciso sokuthatha amanyathelo okuxhuzula'. Ukwazi ukuba ngubani omele uqhagamshelane naye kunye nezixhobo omele uzisebenzise xa kukho imeko engxamisekileyo kunokukunika uxolo lwengqondo.

Unyango lunokunciphisa ukuxhaphaka kunye nobunzima bokuxhuzula. Ngenxa yokuba umntwana wakho uya kufuna unyango oluhlala ixesha elide, uya kubazi kakuhle oogqirha bakhe. Ukuba unemibuzo endleleni, ungathandabuzi ukubuza iqela lezonyango lomntwana wakho.

Okokugqibela, khumbula (Umyalezo Wokuya Ekhaya)

I-Dravet Syndrome sisifo sokuwa esingaqhelekanga nesintsonkothileyo esichaphazela abantwana abancinci. Kuyaqondakala ukuba uzive uloyiko olukhulu kwaye uxhalabile xa usiva ngaso.

Eyona nto ibalulekileyo kukubona iimpawu ngokukhawuleza uze ufumane iingcebiso zonyango ezifanelekileyo kunye nonyango.

• Ukuba umntwana wakho unesifo sokuxhuzula esihlala ixesha elide kunye nomkhuhlane, musa ukulibazisa ukuthetha nogqirha ngaso.
• Ukuphila nale meko kunzima, kodwa awuwedwa. Ungafumana inkxaso eninzi koogqirha, abagqirha bezonyango, kunye nabanye abazali abaye baba namava afanayo.
• Unyango kunye nophando luyaqhubeka luphucuka, ngoko ke musa ukuphelelwa lithemba.

Ngamana ungafumana amandla okubonelela umntwana wakho ngononophelo olungcono!

Isifo sikaDravet , isifo sokuwa, ukuxhuzula, utshintsho lwemfuza, abantwana, izifo zemithambo-luvo, i-SCN1A