So wo ba kumaa no wɔ akisikuru tebea a emu yɛ den yi? Momma yensua Dravet Syndrome ho ade!

Sɛ wo ba kumaa, anaa akokoaa a onnii afe biako, nya atiridiinini a emu yɛ den mpofirim na ɛtra hɔ bɛboro simma anum a, ehu bɛn na wubenya? Ebetumi ayɛ tebea bi a ɛntaa nsi koraa na ebetumi ayɛ den a wɔfrɛ no Dravet Syndrome ho sɛnkyerɛnne a edi kan. Wɔ tebea yi mu no, mmofra nkumaa betumi anya akisikuru ahorow. Ɛnyɛ ɛno nko, na mmom wobetumi anya yare no ho sɛnkyerɛnne afoforo pii nso, te sɛ kasa a ɛyɛ den, nantew mu haw, ne adesua a ɛkyɛ. Mma ɛnhaw wo, momma yɛnka eyi ho asɛm nkɔ akyiri.

Dɛn ne Dravet Syndrome ho sɛnkyerɛnne ahorow?

Abofra a ɔwɔ Dravet Syndrome ho sɛnkyerɛnne a edi kan ne akisikuru . Eyi taa ba ansa na akokoaa no adi afe biako. Ebia saa akisikuru a edi kan yi bɛyɛ te sɛ eyi:

• Ebia ebegye bɛboro simma anum .
• Ɛtaa ba bere a atiridiinini, yare foforo, anaa nneɛma a atwa yɛn ho ahyia no hyew kɛse.
• Ntini a ɛtwetwe a wontumi nni so (yɛfrɛ no akisikuru) betumi aba.
• Ebetumi aka nipadua no fã biako pɛ anaa afã abien no nyinaa.

Sɛ akokoaa adi afe biako a, akisikuru ahorow afoforo betumi aba. Eyinom nso betumi aba a atiridii nnim. Eyi kyerɛ sɛ akisikuru betumi aba a ɔhyew no nkɔ soro. Saa akisikuru ahorow yi ne:

• Absence seizures: Nhumu a ɛyera mpofirim, te sɛ nea wugyina hɔ. Nanso eyi yɛ bere tiaa bi pɛ.
• Atonic seizures: Ntini a ɛmma nipadua no ntumi nni so mpofirim, na ɛma ɛte sɛ nea nipadua no ayɛ mmerɛw.
• Hemiclonic seizures: Ntini a ɛtwetwe nipadua no fã biako pɛ.
• Focal seizures: Ebia adwenemhaw a ɛyera bere tiaa bi, ntini a ɛmma obi ntumi nni so, ne nkate a ɛyɛ soronko.
• Myoclonic seizures: Ntini nketenkete a ɛwosow mpofirim a ɛte sɛ nea ɛwosow ntini no.
• Tonic-clonic seizures: Eyi ne akisikuru a ɛtaa ba a yehu. Nipadua no wosow a wontumi nni so.

Wɔ saa akisikuru ho sɛnkyerɛnne ahorow yi akyi no, mmofra a wɔwɔ Dravet Syndrome no betumi anya sɛnkyerɛnne afoforo. Eyinom bi ne:

• Nkɔsoɔ a ɛkyɛ: Wobetumi ahunu kasa nkɔsoɔ a ɛkyɛ, titire wɔ kasa nkɔsoɔ mu.
• Suban mu haw ahorow: Ɛtɔ mmere bi a obetumi ayɛ n’ade basabasa.
• Ntini mu nkɔso mu haw: Sɛ nhwɛso no, tebea horow te sɛ `ADHD` (Attention Deficit Hyperactivity Disorder).
• Nsɛnnennen a ɛma obi kari pɛ na ɔyɛ adwuma bom: Ebetumi ayɛ den sɛ wobɛkari pɛ yiye bere a wonam no.
• Nsɛnnennen a ɛwɔ kankyee mu: Ebia wubehu sɛ wo ho popo anaasɛ wo nantew a entumi nnyina.
• Ntini mu mmerɛwyɛ (hypotonia): Ntini mu ahoɔden a ɛso tew.
• Dae ho haw: Nneɛma te sɛ nna a wontumi nna, mpɛn pii a wɔsɔre.
• Onyin ne aduan pa ho haw: Nneɛma te sɛ mu duru a ɛnyɛ papa, aduan ho akɔnnɔ a ɛmma obi ntumi nnya.
• Dysautonomia: Eyi kyerɛ sɛ ɛyɛ den sɛ wubedi nneɛma te sɛ nipadua mu hyew, koma bɔ, ne mogya mmoroso so.

Dɛn na ɛde Dravet Syndrome ba?

Nea ɛde Dravet Syndrome ba titiriw no taa yɛ awosu mu nsakrae a ɛwɔ awosu mu abɔde bi a wɔfrɛ no `SCN1A` mu . Saa `SCN1A` gene yi ka kyerɛ yɛn nkwammoaa sɛ wɔnyɛ sodium akwan a ɛde sodium ions (sodium atom a ɛwɔ ahoɔden pa) kɔ. Saa akwan yi boa yɛn amemene mu nkwammoaa ma wɔyɛ anyinam ahoɔden nsɛnkyerɛnne na wɔde mena.

Sɛ yɛbɛka no tiawa a, susuw saa `SCN1A` gene yi ho sɛ `cooking recipe` a wɔde yɛ sodium akwan a ɛyɛ adwuma te sɛ `apon` kɔ yɛn amemene nkwammoaa mu. Sɛ mfomso ketewaa bi wɔ saa `aduan ho nyansahyɛ` yi mu, kyerɛ sɛ, awosu mu nsakrae a, saa `apon` no nhyehyɛ yiye. Afei nkrasɛm a ɛkɔ amemene mu nkwammoaa ntam, kyerɛ sɛ, `neurotransmission`, no sɛe. Eyi nti na sɛnkyerɛnne te sɛ akisikuru da adi no.

So eyi yɛ awosu mu ade?

Yiw, Dravet Syndrome yɛ awosu mu yare . Nanso mpɛn pii no, ɛyɛ tebea a ɛba bere ne bere mu. Ɛne sɛ, ɛba mpofirim, a abusua abakɔsɛm biara nni hɔ a ɛfa tebea no ho. Nanso, nsɛm bi aba a tebea no aka abusua no mufo pii wɔ awo ntoatoaso pii mu.

Wɔ Dravet syndrome a ɛntaa nsi mu no, ebia nkwaadɔm mu nsakrae no wɔ ɔwofo biako nkwammoaa bi nkutoo mu (wɔfrɛ eyi `mosaicism`). Anaasɛ, wobetumi de afi awo ntoatoaso so akɔ awo ntoatoaso so wɔ `autosomal dominant` nhyehyɛe mu. Eyi kyerɛ sɛ abofra betumi anya tebea no fi awo mu sɛ ɔwofo biako pɛ na ɔwɔ mutation no mpo a.

Nanso ade biako a ɛsɛ sɛ yɛkae ne sɛ ɛnyɛ obiara a ɔwɔ `SCN1A` gene mutation no na obenya Dravet Syndrome ho sɛnkyerɛnne. Ebia nnipa binom wɔ saa nkwaadɔm mu nsakrae yi nanso wonni sɛnkyerɛnne biara koraa. Afei nso, nnipa binom betumi anya Dravet Syndrome ho sɛnkyerɛnne nanso wonni `SCN1A` gene mutation.

So asiane titiriw bi wɔ hɔ a ɛde eyi ba?

Sɛ w’awofo no mu biako anaa abusua muni foforo wɔ akisikuru anaasɛ nsakrae bi aba `SCN1A` awosu mu abɔde mu a, ebia wobɛkɔ asiane mu sɛ wubenya saa tebea yi.

Dɛn ne nsɛnnennen a ebetumi afi Dravet Syndrome mu aba?

Nsɛnnennen a emu yɛ den sen biara a ebetumi afi tebea yi mu aba no betumi de nkwa ato asiane mu . Wɔn titiriw ne:

• Opira a akisikuru de ba.
• Status epilepticus: Eyi yɛ tebea a ɛma obi nya akisikuru a ɛkɔ so. Eyi hwehwɛ sɛ wonya ayaresa ntɛm ara.
• Owu Mpofirim a Wonkyerɛkyerɛ Mu wɔ Akisikuru Mu (SUDEP).

Oduruyɛfo a ɔresa wo ba no yare no bɛkyerɛkyerɛ nea asiane ho sɛnkyerɛnne ahorow yi yɛ mu akyerɛ wo na wayɛ nhyehyɛe nso wɔ nea ɛsɛ sɛ woyɛ wɔ tebea a egye ntɛmpɛ mu ho.

Wobɛyɛ dɛn ahu Dravet Syndrome no pɛpɛɛpɛ?

Wo ba no duruyɛfo bedi kan ayɛ nipadua mu nhwehwɛmu de ahwɛ sɛ Dravet Syndrome ho sɛnkyerɛnne bi wɔ hɔ anaa. Wobebisa wo ba no aduruyɛ ho abakɔsɛm ne nnuru biara a ɔnom nso ho asɛm.

Ebia oduruyɛfo no bebisa wo nsɛm te sɛ eyinom:

• So na abofra no nyin yɛ nea ɛfata (anaasɛ ɛbɛn sɛnea ɛte daa) ansa na ɔrenya akisikuru a edi kan?
• So woanya akisikuru mprenu anaa nea ɛboro saa, a atiridiinini wom anaasɛ enni mu, ansa na woadi afe biako?
• So na saa akisikuru no yɛ abien anaa nea ɛboro saa, a ɛkɔɔ so bɛboro simma anum?
• So wubetumi akyerɛkyerɛ nea esii bere a akisikuru no bae no mu (sɛ nhwɛso no, so abofra no bɔɔ, so wohwɛɛ, so wɔkekaa wɔn nipadua no fã biako pɛ)?

Nea ɛka ho no, oduruyɛfo no betumi ayɛ mogya mu nhwehwɛmu anaa nnompe mu nhwehwɛmu de ahwɛ sɛ SCN1A awosu mu nkwaadɔm mu nsakrae no wɔ hɔ anaa. Wobetumi nso ayɛ nhwehwɛmu a wɔde hwehwɛ amemene no mu, te sɛ MRI (Magnetic Resonance Imaging) ne EEG (Electroencephalogram). Nanso ɛtɔ mmere bi a, wobetumi akyɛ saa yare yi a wobehu no mu, efisɛ nea efi MRI ne EEG nhwehwɛmu mu ba no betumi ayɛ nea ɛfata wɔ mfiase no.

Ɔkwan bɛn so na wɔsa Dravet Syndrome?

The main goal of treatment is to reduce the number of seizures your child has and the severity of the seizures . Nanso, esiane sɛ ɛsono sɛnea abofra biara nya akisikuru ne bere tenten nti, ɛnyɛ abofra biara na ɔyɛ n’ade wɔ ayaresa ho wɔ ɔkwan koro so. Enti, wɔayɛ ayaresa nhyehyɛe no ma ankorankoro biara. Ebia eyi bi ne:

• Nnuru a wɔde ko tia akisikuru: Nnuru yi betumi atew akisikuru dodow a wo ba nya no so. Nanso, nnuru bi nso betumi ama akisikuru dodow akɔ soro, enti oduruyɛfo no bɛhwɛ eyi yiye na wahwɛ so mpɛn pii.
• Ketogenic aduan: Ebia oduruyɛfo no bɛkamfo akyerɛ sɛ wɔnyɛ nsakrae wɔ wo ba no aduan mu. Eyi hwehwɛ sɛ wodi aduan a srade pii wom na carbohydrates kakraa bi na ɛwom.
• Ayaresa: Sɛ nkɔso kyɛ a, nhyehyɛe ahorow a wɔde wɔn ho hyɛ mu wɔ nkyerɛkyerɛ mu betumi aboa. Apɔw-mu-teɛteɛ, adwuma, anaa kasa mu ayaresa nso betumi aboa ma wɔadi ɔhaw ahorow no ho dwuma.

Nnuru bɛn na wɔde ma wɔ Dravet Syndrome ho?

U.S. Aduan ne Nnuru Dwumadibea (FDA) apene nnuru yi so de asa akisikuru a ɛbata Dravet Syndrome ho wɔ nnipa a wɔadi boro mfe 2 mu:

• Cannabidiol a wɔde di dwuma
• Fenfluramine a wɔde di dwuma
• Stiripentol a wɔde yɛ aduru

Saa aduru yi wɔ ahorow ahorow, te sɛ nnuru ne nsu, enti ɛnyɛ den mma mmofra nkumaa ne mpanyimfo nyinaa sɛ wɔbɛnom.

Nea ɛho hia: Ebia wo duruyɛfo bɛka akyerɛ wo sɛ mfa nnuru bi a ɛko tia akisikuru te sɛ sodium channel blockers te sɛ carbamazepine, oxcarbazepine, lamotrigine, ne phenytoin nni dwuma, efisɛ ebetumi ama akisikuru no ayɛ kɛse.

Ebia wo duruyɛfo bɛkamfo nnuru bɛboro biako akyerɛ wo na ama woatumi asiw akisikuru biara ano. Amanaman Ntam Nhyiam a Ɛfa Dravet Syndrome a Wohu ne Nea Wodi Ho Kamfo kyerɛ sɛ wɔnsɔ nnuru yi nhwɛ nnidiso nnidiso yi:

• Ayaresa a edi kan: Valproate
• Ayaresa a ɛto so abien: Fenfluramine, stiripentol, anaa clobazam
• Ayaresa a ɛto so abiɛsa: Cannabidiol
• Ayaresa a ɛto so anan: Topiramate, ketogenic aduan

Nnuru a wɔde gye nkwa

Eyinom yɛ nnuru a wɔde ma wɔ tebea horow a egye ntɛmpɛ mu, te sɛ akisikuru a ɛkɔ so (`status epilepticus`). Wo ba no oduruyɛfo bɛyɛ `seizure action plan` a ɛkyerɛ nea ɛsɛ sɛ ɔyɛ sɛ akisikuru ba wɔ fie anaa sukuu mu a. Saa nnuru a egye ntɛmpɛ yi betumi asiw wo ba no akisikuru ano. Eyinom taa wɔ nnuru a wɔfrɛ no `benzodiazepines` no mu. Nhwɛso ahorow:

• Klonazepam (`Klonazepam`) .
• Diazepam (`Akisikuru`) .
• Lorazepam (`Lorazepam`) a wɔde yɛ aduru a wɔfrɛ no Lorazepam.
• Midazolam a wɔde di dwuma

Wobetumi anya saa aduru yi sɛ aduru a wɔde petepete hwene mu, aduru a wɔde petepete akyi berɛmo mu, anaasɛ sɛ nnuru a wɔde petepete anom.

Dɛn ne nkɔmhyɛ a ɛwɔ hɔ ma abofra a ɔwɔ Dravet Syndrome?

Wo duruyɛfo nkutoo na obetumi ama wo ba no adwene ho nsɛm pɔtee, efisɛ ɛsono obiara. Ebia wo ba no benya akisikuru a ɛtra hɔ kyɛ na ɛtaa ba. Nanso, bere a wo ba no nyin no, ebia saa akisikuru yi dodow ne bere tenten so bɛtew. Ɛwom sɛ nnuru betumi atew akisikuru dodow ne sɛnea emu yɛ den so de, nanso entumi nyi akisikuru mfi obi a ɔwɔ Dravet Syndrome mu koraa .

Wubetumi ahwɛ kwan sɛ wo ba no begye bere tenten ansa na wadu nkɔso mu nsɛntitiriw ho sen mmofra afoforo a wɔne wɔn bɔ tipɛn. Ebia wobehia mmoa foforo nso wɔ sukuu mu. Nanso, ebia wobesua ade brɛoo bere a wɔrenyin no.

Ebia wo ba no aduruyɛ kuw no de wo bɛkɔ animdefo ahorow nkyɛn ma wɔasa ɔhaw ahorow a ɛsɔre bere a wo ba no nyin no. Sɛ nhwɛso no, nan ho oduruyɛfo betumi aboa wɔ nantew ho haw ahorow ho denam mpaboa soronko (orthotics) a ɔde bɛhyɛ mu no so. Anaasɛ, nnompe ho oprehyɛn ho oduruyɛfo betumi aboa wɔ nantew mu haw anaa tebea horow te sɛ scoliosis ho.

So aduru bi wɔ hɔ a edi mũ ma eyi?

Mprempren wonni aduru biara a wɔde sa Dravet Syndrome. Afei nso, esiane sɛ ɛyɛ awosu mu tebea nti, ɔkwan biara nni hɔ a wobetumi afa so asiw ano. Nanso, nhwehwɛmu rekɔ so. Awosu mu nkwaadɔm a wɔde sa yare ho sɔhwɛ ahorow ada no adi sɛ nea efi mu ba mfiase no yɛ nea ɛhyɛ bɔ.

Abofra a ɔwɔ Dravet Syndrome nkwa nna yɛ dɛn?

Nnipa a wɔwɔ Dravet Syndrome no wɔ asiane mu sɛ wobewuwu ntɛm esiane SUDEP (owu mpofirim a wontumi nkyerɛkyerɛ mu esiane akisikuru), status epilepticus (akisikuru a ɛkɔ so), anaa akwanhyia a ɛba bere a akisikuru nti. Nanso, nnipa dodow no ara a wɔwɔ saa tebea yi no tra ase kosi wɔn mpanyin afe so.

Esiane sɛ ebia wo ba no tebea ne akontaabu no bɛyɛ pɛ anaasɛ ɛnsɛ nti, wo ba no duruyɛfo betumi ama wo nea wobɛhwɛ kwan ho nsɛm a ɛyɛ nokware sen biara .

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Sɛ wo ba no nya akisikuru mprenu anaa nea ɛboro saa a ɛkyɛ bɛboro simma anum, titiriw sɛ atiridii na ɛde ba a, ansa na wadi afe biako a, ka kyerɛ wo duruyɛfo. Eyi betumi ayɛ Dravet Syndrome ho sɛnkyerɛnne.

Sɛ wohu sɛ wowɔ Dravet Syndrome wie a, ɛho behia sɛ wokɔ wo ba no aduruyɛ kuw nkyɛn daa. Sɛ wuhu sɛ wo ba no akisikuru no reyɛ kɛse (ɛtaa, ɛkyɛ) bere a woafi ayaresa ase akyi a, ka kyerɛ wo duruyɛfo.

Wo duruyɛfo bɛtu wo fo wɔ nsɛnkyerɛnne ne nsɛnkyerɛnne a ɛsɛ sɛ wohwɛ yiye wɔ tebea a egye ntɛmpɛ mu, ne nea ɛsɛ sɛ woyɛ wɔ saa tebea no mu. Nsɛnkyerɛnne a ɛhia sɛ wɔsa yareɛ ntɛm no bi ne:

• Akisikuru a ɛkyɛ bɛboro simma anum na ɛma ɛyɛ den sɛ ɔbɛhome.
• Akisikuru pii ba nnidiso nnidiso, nanso abofra no nnya n’adwene bio bere a ɛrekɔ so no.
• Akisikuru ma obi pira wɔ nipadua mu.

Mete sɛnea ɛyɛ hu sɛ wobɛhwɛ wo ba no akisikuru no ase. Ɛwom sɛ ɛyɛ yaw de, nanso ɛnyɛ mmerɛw sɛ wubehu sɛ biribi a ɛte saa bɛsan asi bio da bi. Eyi ne nokwasɛm a ɛwɔ Dravet Syndrome a wobɛtra ase no mu.

Nanso, wo ba no aduruyɛ kuw no ne wo bɛyɛ adwuma de ate nea wobɛhwɛ kwan bere a akisikuru no aba no ase. Wɔbɛkyerɛ wo nso sɛnea wobɛhyehyɛ `seizure action plan`. Sɛ wuhu onii a ɛsɛ sɛ wo ne wɔn di nkitaho ne nneɛma a wode bedi dwuma wɔ tebea a egye ntɛmpɛ mu a, ebetumi ama woanya asomdwoe kakra.

Ayaresa betumi atew mpɛn dodow a akisikuru ba ne sɛnea emu yɛ den no so. Esiane sɛ wo ba no behia ayaresa wɔ ne nkwa nna nyinaa mu nti, obehu ne nnuruyɛfo yiye. Sɛ wowɔ nsɛmmisa bi wɔ kwan so a, ntwentwɛn wo nan ase sɛ wubebisa wo ba no aduruyɛ kuw no.

Awiei koraa no, kae (Take-Home Message) .

Dravet Syndrome yɛ akisikuru a ɛntaa nsi na ɛyɛ den a ɛka mmofra nkumaa. Ntease wom sɛ wobɛte ehu ne dadwen kɛse nka bere a wote ho asɛm no.

Ade a ɛho hia sen biara ne sɛ wubehu sɛnkyerɛnne ahorow no ntɛm na woahwehwɛ aduruyɛ mu afotu ne ayaresa a ɛfata.

• Sɛ wo ba kumaa no renya akisikuru a ɛkyɛ a atiridiinini ka ho a, nntwentwɛn wo nan ase sɛ wo ne oduruyɛfo bɛkasa afa ho.
• Tebea yi a wobɛtra ase no yɛ asɛnnennen, nanso ɛnyɛ wo nkutoo na wowɔ. Wubetumi anya mmoa pii afi nnuruyɛfo, ayaresa ho animdefo, ne awofo afoforo a wɔanya osuahu a ɛte saa ara hɔ.
• Ayaresa ne nhwehwɛmu kɔ so tu mpɔn, enti mma anidasoɔ nnyae.

Ɛmmra sɛ wubenya ahoɔden de ahwɛ wo ba no yiye!

` Dravet Syndrome, , , , , , SCN1A