Kodi mwana wanu ali ndi matenda a khunyu oopsa awa? Tiyeni tiphunzire za Dravet Syndrome!

Kodi mungaope bwanji ngati mwana wanu, kapena mwana wosakwana chaka chimodzi, mwadzidzidzi agwidwa ndi khunyu lalikulu ndi malungo ndipo linatenga mphindi zoposa zisanu? Ikhoza kukhala chizindikiro choyamba cha matenda osowa kwambiri komanso omwe angakhale oopsa otchedwa Dravet Syndrome. Mu vutoli, ana aang'ono amatha kukhala ndi mitundu yosiyanasiyana ya khunyu. Sikuti amangokhalira kudwala khunyu, komanso amatha kukhala ndi zizindikiro zina zambiri, monga kuvutika kulankhula, mavuto oyenda, komanso kuchedwa kuphunzira. Musadandaule, tiyeni tikambirane za izi mwatsatanetsatane.

Kodi zizindikiro za Dravet Syndrome ndi ziti?

Chizindikiro choyamba cha mwana yemwe ali ndi Dravet Syndrome ndi khunyu . Izi nthawi zambiri zimachitika mwana asanakwanitse chaka chimodzi. Khunyu loyambali likhoza kuoneka motere:

• Zingatenge mphindi zoposa zisanu .
• Kawirikawiri zimachitika ndi malungo, matenda ena, kapena kutentha kwambiri kwa chilengedwe.
• Kukomoka kwa minofu kosalamulirika (timatcha kuti kukomoka) kungachitike.
• Zingakhudze mbali imodzi yokha ya thupi kapena mbali zonse ziwiri.

Mwana akakwanitsa chaka chimodzi, mitundu ina ya khunyu ingachitike. Izi zingachitikenso popanda kutentha thupi. Izi zikutanthauza kuti khunyu ingachitike popanda kutentha thupi. Mitundu yosiyanasiyana ya khunyu ndi iyi:

• Kukomoka: Kutaya mwadzidzidzi chidziwitso, ngati kuti waima chilili. Koma izi ndi za kanthawi kochepa kwambiri.
• Kukomoka kwa thupi: Kulephera kulamulira minofu mwadzidzidzi, zomwe zimapangitsa kuti thupi lizioneka ngati likufooka.
• Kugwidwa ndi matenda a hemiclonic: Minofu imagwedezeka mbali imodzi yokha ya thupi.
• Khunyu: Pakhoza kukhala kutaya chidziwitso kwakanthawi, kulephera kulamulira minofu, komanso kumva zinthu zachilendo.
• Kugwidwa ndi khunyu: Kugwedezeka mwadzidzidzi, pang'ono komwe kumawoneka ngati kukugwedeza minofu.
• Matenda a khunyu ndi khunyu: Uwu ndi mtundu wofala kwambiri wa khunyu womwe timawona. Thupi limagwedezeka mosalamulirika.

Kuwonjezera pa zizindikiro za khunyu zimenezi, ana omwe ali ndi Dravet Syndrome akhoza kukhala ndi zizindikiro zina. Izi zikuphatikizapo:

• Kuchedwa kwa chitukuko: Kuchedwa kwa chitukuko cha chilankhulo, makamaka pakukula kwa kulankhula, kungaonekere.
• Mavuto a khalidwe: Nthawi zina amatha kuchita zinthu mwankhanza.
• Matenda a ubongo: Mwachitsanzo, matenda monga `ADHD` (Attention Deficit Hyperactivity Disorder).
• Kulimbana ndi kusagwirizana kwa thupi: Zingakhale zovuta kukhala ndi kulinganiza bwino thupi pamene mukuyenda.
• Mavuto oyenda: Mungaone kugwedezeka kapena kuyenda kosakhazikika.
• Kufooka kwa minofu (hypotonia): Kuchepa kwa kamvekedwe ka minofu.
• Mavuto a tulo: Zinthu monga kusagona mokwanira, kudzuka pafupipafupi.
• Mavuto a kukula ndi zakudya: Zinthu monga kunenepa pang'ono, kusowa chilakolako cha chakudya.
• Dysautonomia: Izi zikutanthauza kuvutika kulamulira zinthu monga kutentha kwa thupi, kugunda kwa mtima, ndi kuthamanga kwa magazi.

Kodi n’chiyani chimayambitsa Dravet Syndrome?

Chifukwa chachikulu cha Dravet Syndrome nthawi zambiri chimakhala kusintha kwa majini mu jini yotchedwa `SCN1A` . Jini iyi ya `SCN1A` imauza maselo athu kuti apange njira za sodium zomwe zimanyamula ma ayoni a sodium (maatomu a sodium omwe ali ndi mphamvu zabwino). Njirazi zimathandiza maselo athu a muubongo kupanga ndi kutumiza zizindikiro zamagetsi.

Mwachidule, ganizirani za jini iyi ya `SCN1A` ngati 'njira yophikira' yopangira njira za sodium zomwe zimagwira ntchito ngati `zipata' ku maselo athu aubongo. Ngati pali cholakwika chaching'ono mu 'njira' iyi, ndiko kuti, kusintha kwa majini, `zipata' zimenezo sizimapangidwa bwino. Kenako kutumiza mauthenga pakati pa maselo aubongo, ndiko kuti, `kutumiza mauthenga m'mitsempha ya ubongo`, kumasokonekera. Ichi ndichifukwa chake zizindikiro monga khunyu zimawonekera.

Kodi izi ndi nkhani ya majini?

Inde, Dravet Syndrome ndi matenda obadwa nawo . Koma nthawi zambiri, ndi matenda obwera mwadzidzidzi. Izi zikutanthauza kuti, amapezeka mwadzidzidzi, popanda mbiri yakale ya banja la matendawa. Komabe, pakhala zochitika zina pomwe matendawa akhudza anthu angapo m'banjamo kwa mibadwo ingapo.

Muzochitika zachilendo za matenda obadwa nawo a Dravet, kusinthaku kungakhalepo m'maselo ena a kholo limodzi lokha (izi zimatchedwa `mosaicism`). Kapena, kumatha kuperekedwa kuchokera ku mibadwomibadwo mu njira ya `autosomal dominant`. Izi zikutanthauza kuti mwana akhoza kulandira vutoli ngakhale kholo limodzi lokha litakhala ndi kusinthaku.

Koma chinthu chimodzi choyenera kukumbukira ndichakuti si aliyense amene ali ndi kusintha kwa majini kwa `SCN1A` amene adzakhala ndi zizindikiro za Dravet Syndrome. Anthu ena akhoza kukhala ndi kusinthaku koma alibe zizindikiro konse. Komanso, anthu ena akhoza kukhala ndi zizindikiro za Dravet Syndrome koma alibe kusintha kwa majini kwa `SCN1A`.

Kodi pali zinthu zina zapadera zomwe zingachititse izi?

Ngati kholo lanu kapena wachibale wina ali ndi khunyu kapena kusintha kwa majini a `SCN1A`, mungakhale pachiwopsezo chotenga matendawa.

Kodi mavuto omwe angakhalepo chifukwa cha Dravet Syndrome ndi ati?

Mavuto aakulu kwambiri omwe angabwere chifukwa cha vutoli akhoza kukhala oopsa kwambiri . Mavuto akuluakulu ndi awa:

• Kuvulala komwe kumachitika chifukwa cha khunyu.
• Matenda a khunyu: Uwu ndi matenda omwe amakhudza khunyu nthawi zonse. Izi zimafuna thandizo lachipatala mwamsanga.
• Imfa Yosayembekezereka Yosayembekezereka mu Khunyu (SUDEP).

Dokotala amene akuthandiza mwana wanu adzakufotokozerani zizindikiro zoopsazi ndipo adzakonza zomwe mungachite pakagwa ngozi.

Kodi mumazindikira bwanji Dravet Syndrome molondola?

Dokotala wa mwana wanu adzachita kaye mayeso akuthupi kuti aone ngati ali ndi zizindikiro za Dravet Syndrome. Adzafunsanso za mbiri ya matenda a mwana wanu komanso mankhwala aliwonse omwe akumwa.

Dokotala angakufunseni mafunso monga awa:

• Kodi kukula kwa mwana kunali kwabwinobwino (kapena kofanana ndi kwabwinobwino) asanayambe kugwidwa ndi khunyu koyamba?
• Kodi mwakhalapo ndi khunyu kawiri kapena kuposerapo, ndi malungo kapena ayi, musanakwanitse chaka chimodzi?
• Kodi khunyu limenelo linali lopitirira mphindi zisanu kapena ziwiri?
• Kodi mungafotokoze zomwe zinachitika pamene khunyu linayamba (mwachitsanzo, kodi mwana anagwidwa ndi khunyu, kodi munamuyang'ana, kodi anangosuntha mbali imodzi ya thupi lake)?

Kuphatikiza apo, dokotala angachite mayeso a magazi kapena malovu kuti aone ngati pali kusintha kwa majini a SCN1A. Angachitenso mayeso ofufuza ubongo, monga MRI (Magnetic Resonance Imaging) ndi EEG (Electroencephalogram). Komabe, nthawi zina matendawa amatha kuchedwa, chifukwa zotsatira za mayeso a MRI ndi EEG zingakhale zabwinobwino kumayambiriro.

Kodi Dravet Syndrome imachiritsidwa bwanji?

Cholinga chachikulu cha chithandizo ndikuchepetsa kuchuluka kwa khunyu komwe mwana wanu ali nako komanso kuopsa kwa khunyu . Komabe, chifukwa mtundu ndi nthawi ya khunyu ya mwana aliyense zimasiyana, si mwana aliyense amene amayankha chithandizocho mofanana. Chifukwa chake, dongosolo la chithandizo limapangidwa kuti ligwirizane ndi munthu aliyense. Izi zitha kuphatikizapo:

• Mankhwala oletsa khunyu: Mankhwalawa amatha kuchepetsa kuchuluka kwa khunyu komwe mwana wanu ali nako. Komabe, mankhwala ena amathanso kuwonjezera kuchuluka kwa khunyu, kotero dokotala adzachita izi mosamala kwambiri komanso mosamala.
• Zakudya za Ketogenic: Dokotala angakulangizeni kusintha zakudya za mwana wanu. Izi zikuphatikizapo zakudya zokhala ndi mafuta ambiri komanso chakudya chochepa cham'thupi.
• Mankhwala: Ngati pali kuchedwa kwa chitukuko, mapulogalamu othandizira maphunziro angathandize. Mankhwala olimbitsa thupi, ntchito, kapena kulankhula angathandizenso kuthetsa mavutowa.

Ndi mankhwala ati omwe amaperekedwa a Dravet Syndrome?

Bungwe la U.S. Food and Drug Administration (FDA) lavomereza mankhwala awa kuti athandize anthu azaka zopitilira ziwiri omwe ali ndi khunyu chifukwa cha Dravet Syndrome:

• Cannabidiol
• Fenfluramine
• Stiripentol

Mankhwalawa amapezeka m'njira zosiyanasiyana, monga mapiritsi ndi zakumwa, kotero n'zosavuta kwa ana aang'ono ndi akuluakulu kumwa.

Chofunika: Dokotala wanu angakuuzeni kuti musagwiritse ntchito mankhwala ena oletsa khunyu, monga sodium channel blockers monga carbamazepine, oxcarbazepine, lamotrigine, ndi phenytoin, chifukwa amatha kukulitsa khunyu.

Dokotala wanu angakulangizeni mankhwala oposa umodzi kuti athetse mtundu uliwonse wa khunyu. Bungwe la International Consensus on Diagnosis and Management of Dravet Syndrome limalimbikitsa kuyesa mankhwala awa motere:

• Chithandizo choyamba: Valproate
• Chithandizo chachiwiri: Fenfluramine, stiripentol, kapena clobazam
• Chithandizo cha mzere wachitatu: Cannabidiol
• Chithandizo cha mzere wachinayi: Topiramate, zakudya za ketogenic

Mankhwala opulumutsa

Mankhwala awa amaperekedwa pa nthawi yadzidzidzi, monga khunyu losalekeza (`status epilepticus`). Dokotala wa mwana wanu adzapanga 'ndondomeko yochitira khunyu' ya zomwe angachite ngati khunyu litachitika kunyumba kapena kusukulu. Mankhwalawa adzidzidzi amatha kuletsa khunyu la mwana wanu. Mankhwalawa nthawi zambiri amakhala m'gulu la mankhwala otchedwa `benzodiazepines`. Zitsanzo:

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

Mankhwalawa amapezeka ngati mankhwala opopera m'mphuno, jeli ya m'mphuno, kapena ngati mapiritsi omwe amasungunuka mkamwa.

Kodi mwana amene ali ndi Dravet Syndrome angayembekezere chiyani?

Dokotala wanu yekha ndi amene angakupatseni tsatanetsatane wokhudza momwe mwana wanu akuonera, chifukwa zimasiyana malinga ndi munthu. Mwana wanu akhoza kukhala ndi khunyu nthawi yayitali komanso pafupipafupi. Komabe, mwana wanu akamakula, kuchuluka ndi nthawi ya khunyu izi zimatha kuchepa. Ngakhale kuti mankhwala amatha kuchepetsa kuchuluka ndi kuopsa kwa khunyu, sangathe kuthetsa khunyu kwathunthu mwa munthu amene ali ndi Dravet Syndrome.

Muyembekezere kuti mwana wanu atenge nthawi yayitali kuti afike pamlingo wokulirapo kuposa ana ena a msinkhu wake. Angafunikenso thandizo lowonjezera kusukulu. Komabe, angaphunzire pang'onopang'ono akamakula.

Gulu lachipatala la mwana wanu lingakutumizireni kwa akatswiri osiyanasiyana kuti akathandize mavuto omwe amabwera mwana wanu akamakula. Mwachitsanzo, dokotala wa mapazi angathandize ndi mavuto oyenda pomuyika nsapato zapadera (orthotics). Kapena, dokotala wa mafupa angathandize ndi mavuto oyenda kapena matenda monga scoliosis.

Kodi pali mankhwala athunthu a izi?

Pakadali pano palibe mankhwala a Dravet Syndrome. Komanso, popeza ndi matenda a majini, palibe njira yopewera. Komabe, kafukufuku akupitirira. Mayeso azachipatala a mankhwala a majini awonetsa zotsatira zabwino poyamba.

Kodi mwana amene ali ndi Dravet Syndrome amakhala ndi moyo wautali bwanji?

Anthu omwe ali ndi Dravet Syndrome ali pachiwopsezo cha imfa yoyambirira chifukwa cha SUDEP (imfa yosadziwika bwino chifukwa cha khunyu), status epilepticus (kugwidwa kosalekeza), kapena ngozi zomwe zimachitika panthawi ya khunyu. Komabe, anthu ambiri omwe ali ndi vutoli amakhalabe ndi moyo mpaka atakula.

Popeza matenda a mwana wanu angafanane kapena sangagwirizane ndi ziwerengerozo, dokotala wa mwana wanu angakupatseni chidziwitso cholondola kwambiri cha zomwe mungayembekezere.

Kodi muyenera kupita kwa dokotala liti?

Ngati mwana wanu ali ndi khunyu kawiri kapena kuposerapo komwe kumatenga mphindi zoposa zisanu, makamaka ngati kumachitika chifukwa cha malungo, asanakwanitse chaka chimodzi, uzani dokotala wanu. Ichi chingakhale chizindikiro cha Dravet Syndrome.

Mukapezeka ndi Dravet Syndrome, muyenera kupita kukaonana ndi dokotala wa mwana wanu nthawi zonse. Ngati muwona kuti khunyu la mwana wanu likukulirakulira (pafupipafupi, komanso limatenga nthawi yayitali) mutayamba kulandira chithandizo, uzani dokotala wanu.

Dokotala wanu adzakupatsani malangizo pa zizindikiro ndi zizindikiro zomwe muyenera kuziyang'anira pakagwa ngozi, ndi zomwe mungachite ngati zili choncho. Zizindikiro zomwe zimafuna chithandizo chadzidzidzi ndi izi:

• Khunyu lomwe limatenga mphindi zoposa zisanu ndipo limayambitsa vuto lopuma.
• Kugwidwa kangapo kumachitika motsatizana, koma mwanayo sapezanso chidziwitso panthawiyo.
• Khunyu limayambitsa kuvulala kwakuthupi.

Ndikumvetsa momwe zimakhalira zoopsa kuona mwana wanu akugwidwa ndi khunyu. Ngakhale kuti zimapweteka, sikophweka kudziwa kuti chinthu chonga chimenecho chidzachitikanso tsiku lina. Ichi ndi chenicheni cha kukhala ndi Dravet Syndrome.

Komabe, gulu lachipatala la mwana wanu lidzagwira ntchito nanu kuti mumvetse zomwe mungayembekezere panthawi ya khunyu. Adzakuphunzitsaninso momwe mungapangire 'ndondomeko yochitira khunyu'. Kudziwa woti mulankhule naye komanso zinthu zomwe mungagwiritse ntchito pakagwa mwadzidzidzi kungakupatseni mtendere wamumtima.

Chithandizo chingachepetse kuchuluka ndi kuopsa kwa khunyu. Popeza mwana wanu adzafunika chithandizo chamankhwala kwa moyo wake wonse, adzadziwana bwino ndi madokotala ake. Ngati muli ndi mafunso aliwonse panjira, musazengereze kufunsa gulu lachipatala la mwana wanu.

Pomaliza, kumbukirani (Uthenga Wopita Nawo Kunyumba)

Dravet Syndrome ndi matenda a khunyu omwe sapezeka kawirikawiri komanso ovuta omwe amakhudza ana aang'ono. N'zomveka kumva mantha ndi nkhawa zambiri mukamva za matendawa.

Chofunika kwambiri ndi kuzindikira zizindikiro mwachangu ndikupempha upangiri ndi chithandizo choyenera cha dokotala.

• Ngati mwana wanu akudwala khunyu kwa nthawi yayitali komanso malungo, musazengereze kulankhula ndi dokotala za vutoli.
• Kukhala ndi vutoli ndi vuto lalikulu, koma simuli nokha. Mutha kupeza chithandizo chambiri kuchokera kwa madokotala, akatswiri azachipatala, ndi makolo ena omwe adakumanapo ndi vuto lofananalo.
• Mankhwala ndi kafukufuku zikupitirirabe kusintha, choncho musataye mtima.

Mupeze mphamvu zoperekera chisamaliro chabwino kwambiri kwa mwana wanu!

Dravet Syndrome, khunyu, khunyu, kusintha kwa majini, ana, matenda amitsempha, SCN1A