Ingabe ingane yakho encane inalesi simo esibi sokuwa? Ake sifunde nge-Dravet Syndrome!

Ubungesaba kangakanani uma ingane yakho encane, noma ingane engaphansi konyaka ubudala, ingavele ibe nokuquleka okukhulu okunomkhuhlane futhi kuthathe imizuzu engaphezu kwemihlanu? Kungaba uphawu lokuqala lwesimo esingavamile kakhulu futhi esingaba yingozi esibizwa ngokuthi i-Dravet Syndrome. Kulesi simo, izingane zingaba nezinhlobo ezahlukene zokuquleka. Akukhona lokho kuphela, zingaba nezinye izimpawu eziningi, njengobunzima bokukhuluma, izinkinga zokuhamba, kanye nokubambezeleka kokufunda. Ungakhathazeki, ake sixoxe ngalokhu ngokuningiliziwe.

Ziyini izimpawu ze-Dravet Syndrome?

Uphawu lokuqala lwengane ene-Dravet Syndrome ukuxhuzula . Lokhu kuvame ukwenzeka ngaphambi kokuba ingane ibe nonyaka owodwa ubudala. Lokhu kuxhuzula kokuqala kungase kubukeke kanje:

• Kungathatha imizuzu engaphezu kwemihlanu .
• Kuvame ukwenzeka ngomkhuhlane, esinye isifo, noma amazinga okushisa aphezulu emvelo.
• Kungase kube nokufinyela kwemisipha okungalawulwa (esikubiza ngokuthi ukufinyela).
• Kungathinta uhlangothi olulodwa lomzimba noma izinhlangothi zombili.

Ngemva kokuba umntwana egubha unyaka owodwa ubudala, kungase kube nezinye izinhlobo zokuxhuzula. Lokhu kungase kwenzeke ngaphandle komkhuhlane. Lokhu kusho ukuthi ukuxhuzula kungenzeka ngaphandle kokunyuka kwezinga lokushisa. Lezi zinhlobo ezahlukene zokuxhuzula yilezi:

• Ukuquleka okungekho: Ukulahlekelwa yingqondo ngokuzumayo, njengokungathi umile unganyakazi. Kodwa lokhu kungokwesikhashana esifushane kakhulu.
• Ukuquleka kwe-Atonic: Ukulahlekelwa ngokungazelelwe ukulawula imisipha, okwenza umzimba ubonakale sengathi uyaxega.
• Ukuwa kwe-Hemiclonic: Imisipha iyanyakaza ohlangothini olulodwa lomzimba.
• Ukuquleka okugxile: Kungase kube nokulahlekelwa ukwazi isikhashana, ukulahlekelwa ukulawula imisipha, kanye nemizwa engavamile.
• Ukuquleka kwe-Myoclonic: Ukuquleka okuncane okungazelelwe okubonakala sengathi kushukumisa imisipha.
• Ukuquleka kwe-Tonic-clonic: Lolu uhlobo oluvame kakhulu lokuquleka esilubonayo. Umzimba uyagxumagxuma ngokungalawuleki.

Ngaphezu kwalezi zimpawu zokuquleka, izingane ezine-Dravet Syndrome zingase zibe nezinye izimpawu. Lezi zimpawu zifaka:

• Ukulibaziseka kokukhula: Ukulibaziseka kokukhula kolimi, ikakhulukazi ekuthuthukisweni kwenkulumo, kungabonakala.
• Izinkinga zokuziphatha: Ngezinye izikhathi angaziphatha ngobudlova.
• Izinkinga zokukhula kwe-neuro: Isibonelo, izimo ezifana ne-'ADHD' (Isifo Sokungakwazi Ukugxila Kakhulu).
• Ubunzima bokulinganisela nokuhlanganisa: Kungaba nzima ukugcina ibhalansi efanele ngenkathi uhamba.
• Ubunzima bokunyakaza: Ungase uqaphele ukuthuthumela noma ukuhamba okungazinzile.
• Ubuthakathaka bemisipha (hypotonia): Ukwehla kwethoni yemisipha.
• Izinkinga zokulala: Izinto ezifana nokungakwazi ukulala, ukuvuka njalo.
• Izinkinga zokukhula nezokudla okunempilo: Izinto ezifana nokukhuluphala okuncane, ukuphelelwa yisifiso sokudla.
• I-Dysautonomia: Lokhu kusho ubunzima bokulawula izinto ezifana nokushisa komzimba, ukushaya kwenhliziyo, kanye nomfutho wegazi.

Yini ebangela i-Dravet Syndrome?

Imbangela eyinhloko ye-Dravet Syndrome ivame ukuba uhlobo lwezakhi zofuzo ku-gene ebizwa ngokuthi i-`SCN1A` . Le gene ye-`SCN1A` itshela amangqamuzana ethu ukuthi enze iziteshi ze-sodium ezithwala ama-ion e-sodium (ama-athomu e-sodium ashajwe kahle). Lezi ziteshi zisiza amangqamuzana ethu obuchopho ukuthi enze futhi athumele izimpawu zikagesi.

Kalula nje, cabanga ngaleli jini elithi 'SCN1A' njenge 'iresiphi yokupheka' yokwenza iziteshi ze-sodium ezisebenza njenge 'amasango' emaseli ethu obuchopho. Uma kukhona iphutha elincane kule 'resiphi', okungukuthi, ukuguquka kwezakhi zofuzo, lawo 'amasango' awakheki kahle. Khona-ke ukudluliselwa kwemiyalezo phakathi kwamangqamuzana obuchopho, okungukuthi, 'ukudluliselwa kwemizwa', kuyaphazamiseka. Yingakho kuvela izimpawu ezifana nokuquleka.

Ingabe lokhu kuyindaba yofuzo?

Yebo, i-Dravet Syndrome iyisimo esibangelwa ufuzo . Kodwa isikhathi esiningi, kuyisimo esingavamile. Okusho ukuthi, senzeka ngokuzumayo, ngaphandle komlando womndeni wangaphambilini walesi simo. Kodwa-ke, kube nezimo lapho lesi simo siye sathinta amalungu omndeni amaningana ezizukulwaneni eziningana.

Ezimweni ezingavamile ze-Dravet syndrome ezuzwe njengefa, ukuguquka kungase kube khona emangqamuzaneni athile omzali oyedwa kuphela (lokhu kubizwa ngokuthi 'i-mosaicism'). Noma, kungadluliselwa kusuka esizukulwaneni kuya kwesinye ngendlela yephethini 'elawulayo ye-autosomal'. Lokhu kusho ukuthi ingane ingazuza lesi simo ngisho noma umzali oyedwa kuphela one-mutation.

Kodwa into eyodwa okufanele uyikhumbule ukuthi akuwona wonke umuntu one-'SCN1A` gene mutation' ozoba nezimpawu ze-Dravet Syndrome. Abanye abantu bangase babe nalolu guquko kodwa bangabi nazimpawu nhlobo. Futhi, abanye abantu bangase babe nezimpawu ze-Dravet Syndrome kodwa bangabi nalolu guquko lwe-'SCN1A` gene.

Ingabe zikhona izici ezikhethekile eziyingozi kulokhu?

Uma omunye wabazali bakho noma elinye ilungu lomndeni wakho linesifo sokuwa noma ukuguquka kwezakhi zofuzo ze-'SCN1A', ungase ube sengozini yokuthola lesi simo.

Yiziphi izinkinga ezingaba khona ze-Dravet Syndrome?

Izinkinga ezinkulu kakhulu ezingavela ngenxa yalesi simo zingaba yingozi empilweni . Eziyinhloko yilezi:

• Ukulimala okubangelwa ukuxhuzula.
• Isimo sokuwa: Lesi yisimo lapho kuba nokuwa okuqhubekayo. Lokhu kudinga usizo lwezokwelapha ngokushesha.
• Ukufa Okungazelelwe Okungachazeki Esifo Sokuxhuzula (`SUDEP`).

Udokotela owelapha ingane yakho uzokuchazela ukuthi ziyini lezi zimpawu zengozi futhi azokwenza nohlelo lokuthi yini okufanele uyenze esimweni esiphuthumayo.

Ungayixilonga kanjani ngokunembile i-Dravet Syndrome?

Udokotela wengane yakho uzoqala enze ukuhlolwa ngokomzimba ukuze ahlole izimpawu ze-Dravet Syndrome. Uzobuza nangomlando wezokwelapha wengane yakho kanye nanoma yimiphi imithi ayiphuzayo.

Udokotela angase akubuze imibuzo efana nale:

• Ingabe ukukhula kwengane bekujwayelekile (noma kusondele kokujwayelekile) ngaphambi kokuquleka kokuqala?
• Uke waba nokuquleka okubili noma ngaphezulu, noma unomkhuhlane noma awunawo, ngaphambi kokuba ube neminyaka engu-1 ubudala?
• Ingabe lezo zithuthwane ezimbili noma ngaphezulu, zazithatha imizuzu engaphezu kwemihlanu?
• Ungachaza ukuthi kwenzekeni lapho kwenzeka ukuxhuzula (isibonelo, ingabe ingane iqhume, ingabe ubuke, ingabe ishukumise uhlangothi olulodwa lomzimba wayo kuphela)?

Ngaphezu kwalokho, udokotela angenza ukuhlolwa kwegazi noma ukuhlolwa kwamathe ukuze ahlole ukuguquka kwezakhi zofuzo ze-SCN1A. Bangenza futhi ukuhlolwa okuhlola ubuchopho, njenge-MRI (Magnetic Resonance Imaging) kanye ne-EEG (Electroencephalogram). Kodwa-ke, ngezinye izikhathi lokhu kuxilongwa kungabambezeleka, njengoba imiphumela yokuhlolwa kwe-MRI kanye ne-EEG ingaba yinto evamile ezigabeni zokuqala.

Iphathwa kanjani i-Dravet Syndrome?

Umgomo oyinhloko wokwelashwa ukunciphisa inani lokuquleka ingane yakho enalo kanye nobunzima bokuquleka . Kodwa-ke, ngenxa yokuthi uhlobo nobude besikhathi sokuquleka kwengane ngayinye kuhlukile, akuwona wonke umntwana osabela ngendlela efanayo ekwelashweni. Ngakho-ke, uhlelo lokwelashwa luhlelwe ngokomuntu ngamunye. Lokhu kungafaka:

• Imithi yokuvimbela ukuquleka: Le mithi inganciphisa inani lokuquleka ingane yakho enalo. Kodwa-ke, eminye imithi ingandisa nenani lokuquleka, ngakho udokotela uzoyiphatha ngokucophelela nangokuyiqapha njalo.
• Ukudla okune-ketogenic: Udokotela angase ancome ukuthi kushintshwe ukudla kwengane yakho. Lokhu kuhilela ukudla okunamafutha amaningi kanye nama-carbohydrate aphansi.
• Ukwelashwa: Uma kukhona ukubambezeleka kokukhula, izinhlelo zokungenelela kwezemfundo zingasiza. Ukwelashwa ngokomzimba, ngokomsebenzi, noma ngokwenkulumo nakho kungasiza ekuxazululeni izinkinga.

Yimiphi imithi enikezwayo ye-Dravet Syndrome?

I-U.S. Food and Drug Administration (FDA) ivumile le mithi yokwelapha ukuxhuzula okuhlobene ne-Dravet Syndrome kubantu abaneminyaka engaphezu kwemibili ubudala:

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

Lo muthi utholakala ngezindlela ezahlukene, njengamaphilisi noketshezi, ngakho kulula ukuthi izingane ezincane kanye nabantu abadala bawuthathe.

Okubalulekile: Udokotela wakho angakutshela ukuthi ungasebenzisi eminye imithi yokulwa nokuquleka, njenge-sodium channel blockers njenge-carbamazepine, i-oxcarbazepine, i-lamotrigine, kanye ne-phenytoin, ngoba ingenza ukuquleka kube kubi kakhulu.

Udokotela wakho angase ancome imithi engaphezu kweyodwa yokulawula uhlobo ngalunye lokuxhuzula. I-International Consensus on Diagnosis and Management of Dravet Syndrome itusa ukuzama le mithi ngokulandelana okulandelayo:

• Ukwelashwa kokuqala: i-Valproate
• Ukwelashwa komugqa wesibili: i-Fenfluramine, i-stiripentol, noma i-clobazam
• Ukwelashwa komugqa wesithathu: i-Cannabidiol
• Ukwelashwa komugqa wesine: I-Topiramate, ukudla kwe-ketogenic

Imithi yokuhlenga

Le yimithi enikezwa ezimweni eziphuthumayo, njengokuquleka okuqhubekayo (`status epilepticus`). Udokotela wengane yakho uzokwakha 'uhlelo lokusebenza lokuquleka' lokuthi yini okufanele uyenze uma ukuquleka kwenzeka ekhaya noma esikoleni. Le mithi ephuthumayo ingamisa ukuquleka kwengane yakho. Le mithi ivame ukuba sekilasini lemithi ebizwa ngokuthi 'ama-benzodiazepines'. Izibonelo:

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

Lo muthi utholakala njengesifutho samakhala, ijeli yerectal, noma njengamaphilisi ancibilika emlonyeni.

Iyini i-prognosis yengane ene-Dravet Syndrome?

Udokotela wakho kuphela ongakunikeza imininingwane eqondile mayelana nombono wengane yakho, njengoba kuhlukahluka kuye ngomuntu nomuntu. Ingane yakho ingase ibe nokuquleka okuhlala isikhathi eside futhi okuvamile. Kodwa-ke, njengoba ingane yakho ikhula, inani kanye nobude balokhu kuquleka kungase kwehle. Nakuba imithi inganciphisa inani kanye nobunzima bokuquleka, ayikwazi ukuqeda ngokuphelele ukuquleka kumuntu one-Dravet Syndrome.

Ungalindela ukuthi ingane yakho ithathe isikhathi eside ukufinyelela izigaba zokukhula kunezinye izingane ezingontanga yayo. Ingase idinge usizo olwengeziwe esikoleni. Kodwa-ke, ingase ifunde kancane njengoba ikhula.

Ithimba lezokwelapha lengane yakho lingakudlulisela kochwepheshe abahlukahlukene ukuze baphathe izinkinga ezivela njengoba ingane yakho ikhula. Isibonelo, udokotela wezinyawo angasiza ngezinkinga zokuhamba ngokufaka izicathulo ezikhethekile (ama-orthotics). Noma, udokotela ohlinzayo wamathambo angasiza ngezinkinga zokuhamba noma izimo ezifana ne-scoliosis.

Ingabe ikhona ikhambi eliphelele lalokhu?

Okwamanje akukho ukwelashwa kwe-Dravet Syndrome. Futhi, njengoba kuyisimo sofuzo, ayikho indlela yokusivimbela. Kodwa-ke, ucwaningo luyaqhubeka. Ukuhlolwa kwezokwelapha kwezakhi zofuzo kubonise imiphumela yokuqala ethembisayo.

Ingakanani iminyaka yokuphila kwengane ene-Dravet Syndrome?

Abantu abane-Dravet Syndrome basengozini yokufa kusenesikhathi ngenxa ye-SUDEP (ukufa okungazelelwe okubangelwa yisifo sokuwa), isimo se-epilepticus (ukuwa okuqhubekayo), noma izingozi ezenzeka ngesikhathi sokuwa. Kodwa-ke, iningi labantu abanalesi simo liyasinda baze babe badala.

Njengoba isimo sengane yakho singase sihambisane noma singase singahambisani nezibalo, udokotela wengane yakho angakunikeza ulwazi olunembile kakhulu ngalokho ongakulindela.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inezithuthwane ezimbili noma ngaphezulu ezihlala imizuzu engaphezu kwemihlanu, ikakhulukazi uma zibangelwa umkhuhlane, ngaphambi kokuba ibe nonyaka owodwa ubudala, tshela udokotela wakho. Lokhu kungaba uphawu lwe-Dravet Syndrome.

Ngemva kokuthola ukuthi une-Dravet Syndrome, kuzodingeka ubone ithimba lezokwelapha lengane yakho njalo. Uma ubona ukuthi ukuxhuzula kwengane yakho kuya kuba kubi kakhulu (kuvamile, kuhlala isikhathi eside) ngemva kokuqala ukwelashwa, tshela udokotela wakho.

Udokotela wakho uzokweluleka ngezimpawu okufanele uziqaphele esimweni esiphuthumayo, nokuthi yini okufanele uyenze kuleso simo. Izimpawu ezidinga ukwelashwa okuphuthumayo zifaka:

• Ukuxhuzula okuhlala imizuzu engaphezu kwemihlanu futhi okubangela ubunzima bokuphefumula.
• Ukuwa okuningana kwenzeka ngokulandelana, kodwa ingane ayibuyi iqonde phakathi nakho.
• Ukuquleka kubangela ukulimala ngokomzimba.

Ngiyaqonda ukuthi kuyesabeka kangakanani ukubona ingane yakho ixhuzula. Ngisho noma kubuhlungu, akulula ukwazi ukuthi into efana naleyo izophinde yenzeke ngelinye ilanga. Leli iqiniso lokuphila ne-Dravet Syndrome.

Kodwa-ke, ithimba lezokwelapha lengane yakho lizosebenzisana nawe ukuze liqonde ukuthi yini ongayilindela ngesikhathi sokuwa. Bazokufundisa nendlela yokwakha 'uhlelo lokusebenza lokuwa'. Ukwazi ukuthi ubani okufanele uxhumane naye nokuthi yiziphi izinsiza okufanele uzisebenzise esimweni esiphuthumayo kungakunikeza ukuthula kwengqondo.

Ukwelashwa kunganciphisa ukuvama kanye nobukhali bokuxhuzula. Ngenxa yokuthi ingane yakho izodinga ukunakekelwa kwezokwelapha impilo yayo yonke, izokwazi ukwazi odokotela bayo kahle. Uma unemibuzo endleleni, ungangabazi ukubuza ithimba lezokwelapha lengane yakho.

Okokugcina, khumbula (Umyalezo Wokuya Ekhaya)

I-Dravet Syndrome yisifo sokuwa esingavamile nesiyinkimbinkimbi esithinta izingane ezincane. Kuyaqondakala ukuthi uzizwe ukwesaba okukhulu nokukhathazeka uma uzwa ngakho.

Into ebaluleke kakhulu ukuqaphela izimpawu ngokushesha bese ucela iseluleko nokwelashwa okufanele kwezokwelapha.

• Uma ingane yakho inesifo sokuwa isikhathi eside kanye nomkhuhlane, ungalibali ukukhuluma nodokotela ngakho.
• Ukuphila nalesi simo kuyinselele, kodwa awuwedwa. Ungathola ukwesekwa okuningi kodokotela, abelaphi, kanye nabanye abazali abaye baba nokuhlangenwe nakho okufanayo.
• Ukwelashwa nocwaningo kuyaqhubeka nokuthuthuka, ngakho ungalilahli ithemba.

Kwangathi ungathola amandla okunakekela ingane yakho kangcono!

I- Dravet Syndrome, isifo sokuwa, ukuquleka, izinguquko zofuzo, izingane, izifo zezinzwa, i-SCN1A