Tubabufura ye mun ye? Aw kana siran, an ka kuma o kan.

Yala aw bɛ hami aw denmisɛnnin ka nɔgɔ finmanw na wa? Walima i bɛ hami ko i den bɛ to ka kirin wa? Nin taamasiɲɛ ninnu sababu bɛ se ka kɛ bana ye min man teli ka sɔrɔ. Bi an bɛna kuma o cogoya kelen kan min man ca nka a bɛ se ka ɲɛnabɔ. O ye tubabufura ye.

N’an y’a fɔ cogo nɔgɔman na, tubabufura ye mun ye?

Tuberous Sclerosis Complex (TSC) ye bana ye min man teli ka sɔrɔ jamu fɛ, min bɛ kɛ sababu ye ka kurukuruw bɔ farikolo yɔrɔ caman na, minnu tɛ kansɛri ye, kɛrɛnkɛrɛnnenya la farikolo yɔrɔw la i n’a fɔ kunsɛmɛ, fari, sugunɛ, dusukun ani fogonfogon. a nafa ka bon aw k' aw hakili to a la ko nin tɛ kansɛri ye .

Nin bana in bɛ mɔgɔ kelen-kelen bɛɛ minɛ cogo min na, o tɛ kelen ye kosɛbɛ. Mɔgɔ dɔw ka bana taamasiɲɛw ka dɔgɔn kosɛbɛ, wa u bɛ ɲɛnamaya kɛ cogo bɛnnen na. Nka mɔgɔ dɔw fɛ, o bana in bɛ se ka juguya ka tɛmɛ o kan. O la, gɛlɛya jugumanbaw bɛ se ka sɔrɔ.

Nin bana in bɛ bonya dɔɔni dɔɔni waati tɛmɛnen kɔfɛ. Hali ni a taamasiɲɛ dɔw bɛ se ka bɔ u ka ɲɛnamaya daminɛ na, dɔw bɛ se ka san caman ta ka sɔrɔ ka bɔ u la. O la, a nafa ka bon kosɛbɛ nin bana in bɛ mɔgɔ min na, o ka to dɔgɔtɔrɔ ka kɔlɔsili kɔrɔ a si bɛɛ kɔnɔ.

Nin bana in bɛ jɔn de minɛ kosɛbɛ?

Nin ye bana ye min bɛ sɔrɔ bangekɔlɔsi fɛ. A ka ca a la, nin bana in bɛ den sɔrɔ n’u si bɛ kalo 7 ɲɔgɔn bɔ. Nka, a bɛ se ka san caman kɛ ka sɔrɔ ka bana in sɔrɔ mɔgɔ minnu na, a taamasiɲɛw man ca. Mɔgɔ o mɔgɔ bɛ se ka nin bana in sɔrɔ, cɛya ni musoya, siya, diinɛ mana kɛ min o min ye. A jateminɛna ko nin bana in bɛ mɔgɔ miliyɔn kelen ɲɔgɔn na diɲɛ kɔnɔ.

Tubabufura taamasiɲɛw ye jumɛnw ye?

Tuma caman na, bana taamasiɲɛw bɛ bɔ farikolo yɔrɔ la, kuru bɛ ​​yɔrɔ min na. An ka nin taamasiɲɛ ninnu tila tilayɔrɔba saba ye.

1. Taamasiɲɛ minnu bɛ sɔrɔ hakili la

2. Farikolo taamasiɲɛw

3. Taamasiɲɛ minnu bɛ tali kɛ farikolo yɔrɔ wɛrɛw la

1. Taamasiɲɛ minnu bɛ sɔrɔ hakili la

Tumu minnu ka teli ka kɛ bana in na, olu bɛ sɔrɔ kunsɛmɛ na. Hali ni ninnu tɛ kansɛri ye, u bɛ se ka kunsɛmɛ baara bali.

• Kɔnɔboli: Nin ye bana taamasiɲɛ ye min ka teli ka kɛ ani farati bɛ a la. Kɔnɔboli suguya caman bɛ yen minnu bɛ se ka kɛ.
• Sugunɛbilenni : Tumuw (Subependymal giant cell astrocytoma - SEGA) bɛ se ka sɔrɔ kunsɛmɛ kɔnɔbara la. Ni ninnu kɛra fɛnba ye, ji bɛ se ka dalajɛ kunsɛmɛ na, ka bana dɔ lase mɔgɔ ma min bɛ wele ko jisuma.
• Yiriwali kɔtigɛbaliya ni hakiliɲagami: Ninnu tɛ bɛɛ la, nka denmisɛn dɔw bɛ kalanbaliya ni kuma latɛmɛ.
• Taamacogo gɛlɛyaw:Bana minnu bɛ sɔrɔ i n’a fɔ autizmu spectre disorder walima attention deficit hyperactivité disorder (ADHD) bɛ se ka kɛ ɲɔgɔn fɛ ni nin bana in ye.

2. Farikolo taamasiɲɛw

A ka ca a la, bana in bɛ dɔn fɔlɔ fari taamasiɲɛw fɛ. Bana in bɛ mɔgɔ minnu na, olu 90% ɲɔgɔn bɛna nin taamasiɲɛ ninnu dɔ walima caman sɔrɔ:

3. Jogo minnu bɛ tali kɛ farikolo yɔrɔ wɛrɛw la

• Sugunɛ gɛlɛyaw:Sugunɛbilenni walima kurukuruw bɛ se ka sɔrɔ sugunɛ na. O bɛ se ka kɛ sababu ye ka sugunɛbaralabana, kɔdimi walima kɔdimi, ani joli bɛ kɛ sugunɛ na. A man teli, sugunɛbaralabana walima sugunɛ kansɛri (sugunɛbilenni kansɛri) bɛ se ka kɛ.
• Dusukun tantanni : Ninnu ka teli ka ye denmisɛnni fitiniw na. A ka ca a la u bɛ dɔgɔya ni den bɛ ka bonya. Nka, kuru belebele dɔw bɛ se ka joli bɔli bali dusukun na.
• Ɲɛ gɛlɛyaw : Hali ni kurukuruw bɛ se ka kɛ ɲɛkisɛ la, yeli gɛlɛyaw man ca kosɛbɛ.
• Yɛlɛma donna da la : Aw bɛ se ka fɛn dɔw kɔlɔsi i n’a fɔ kurukuru misɛnniw bɛ ɲinw na walima sɔgɔsɔgɔninjɛ bɛ kɛ ɲinw na.

Mun de bɛ kɛ sababu ye ka tubabufura sɔrɔ?

N’an y’a fɔ cogo nɔgɔman na, o bɛ sɔrɔ fɛn dɔ Changement (mutation) fɛ jeninida la. Farikolojɔlifɛn dɔw bɛ an fari la minnu bɛ farikolokisɛw falenni ni u tilatilali kɔlɔsi. Nin bana in na, nafa dɔ bɛ jamu la min b’u bila ka nin farikolojɔlifɛn ninnu dilan (u bɛ wele ko TSC1 walima TSC2 jamu). O kɔ, farikolokisɛw bɛ bonya u yɛrɛ ma, u bɛ kɛ kurukuruw ye.

O jamu nafama in bɛ se ka kɛ cogo fila la:

1. A bɛ kɛ tuma dɔw la: A ka ca a la (a bɛ kɛ tila saba la fila ɲɔgɔn), nin jamu nafama in ye ko kura ye. O kɔrɔ ye ko bana tɛ ba ni fa si la. Nin jamu nafama in bɛ kɛ a danma den kɔnɔma kɔfɛ.

2. Ciyɛn: A tila sabanan ɲɔgɔn na, den bɛ bana in ciyɛn ta bangebaga dɔ fɛ bana in bɛ min na.

Bana in bɛ se ka sɛgɛsɛgɛ cogo di?

Dɔgɔtɔrɔ bɛ nin bana in sɛgɛsɛgɛ ni a taamasiɲɛw sɛgɛsɛgɛli ye. O taamasiɲɛw tilalen don kulu fila ye: "fɛn belebelebaw" ani "fɛn misɛnninw".

Tuma dɔw la, barisa bana taamasiɲɛw bɛ bɔ waati kɔnɔ, bana in bɛ se ka jate a daminɛ na ko “TSC bɛ se ka kɛ.”

Sɛgɛsɛgɛli minnu bɛ kɛ ka bana in dɔn, olu dɔw ye :

• Sugunɛ ta fan fɛ: Sugunɛ MRI walima CT scan, EEG sɛgɛsɛgɛli walasa ka kirinni lajɛ.
• Fari ta fan fɛ: Fari sɛgɛsɛgɛli, kɛrɛnkɛrɛnnenya la Wood ka lanpan sɛgɛsɛgɛli walasa ka nɔ finmanw dɔn ka jɛya.
• Sugunɛw ta fan fɛ: Kɔnɔbara lajɛ walima MRI.
• Dusukun ta fan fɛ: Echocardiogramme.
• Jɛnkulu sɛgɛsɛgɛli : Joli tacogo bɛ se ka a jira ni fiɲɛ dɔ bɛ TSC1 walima TSC2 jamu la.

Aw ka dɔgɔtɔrɔ bɛna a latigɛ sɛgɛsɛgɛli minnu ka kan ka kɛ ka kɛɲɛ ni aw ka bana taamasiɲɛw ye.

O furakɛcogo jumɛnw bɛ yen?

Tubabufura tɛ se ka furakɛ pewu. Nka, fura ɲumanw bɛ yen minnu bɛ se ka bana taamasiɲɛw kunbɛn ani k’u kunbɛn. Furakɛli bɛ bɔ bana taamasiɲɛw cogoya de la.

• Fura minnu bɛ kɛ:
• Walasa ka kirinni kunbɛn: Fura suguya caman bɛ kɛ kirinni na.
• Walasa ka kuruw dɔgɔya: Fura suguya dɔ min bɛ wele ko mTOR inhibiteurs, o bɛ se ka tumuw falenni kunbɛn kunsɛmɛ na, sugunɛ na ani yɔrɔ wɛrɛw la ani ka u dɔgɔya.
• Opereli: Tuma dɔw la, kuru belebele minnu bɛ farikolo yɔrɔw tiɲɛ, olu bɛ se ka bɔ opereli fɛ. A nafa ka bon kɛrɛnkɛrɛnnenya la ka kurukuruw bɔ minnu bɛ ji bɔli bali kunsɛmɛ na.
• Farikolola furaw : Mɔgɔ dɔw bɛ se ka maloya ɲɛda ni fari kurukuruniw yecogo fɛ. Furakɛli i n’a fɔ laser fari lasegincogo ani farikolojidɛsɛ bɛ se ka dɔ bɔ u yecogo la.
• Furakɛli wɛrɛw : Furakɛli minnu bɛ kɛ i n’a fɔ kuma furakɛli ani baarakɛlaw ka furakɛli fana bɛ dɛmɛba lase denmisɛnniw ma minnu ka yiriwali bɛ mɛn.

Aw bɛ se ka mun makɔnɔ ni aw bɛ balo ni nin bana in ye?

Nin bana in bɛ mɔgɔ caman na, olu ka kan ka sɛgɛsɛgɛli kɛ i n’a fɔ MRI siɲɛ kelen san 1-2 o san 1-2, kɛrɛnkɛrɛnnenya la denmisɛnya waati, walasa ka kurukuruw falencogo kɔlɔsi.

Bana in nɔ bɛ danfaraba don mɔgɔ ni mɔgɔ cɛ.

• Mɔgɔ minnu ka bana taamasiɲɛw man jugu: A taamasiɲɛw ka nɔgɔn kosɛbɛ. A bɛ se ka kɛ u ka kan ka fura dɔw ta. Nka u bɛ se ka ɲɛnamaya kɛ cogo bɛnnen na, k’a sɔrɔ tiɲɛniba ma kɛ u ka ɲɛnamaya la.
• Minnu bɛ nɔba bila mɔgɔ la: Hali ni bana taamasiɲɛw bɛ tiɲɛni dɔw lase mɔgɔ ma, u bɛ se ka furakɛ ka ɲɛ ni furakɛli ni dɔgɔtɔrɔso kɔlɔsili ye tuma bɛɛ.
• A bana jugumanba: Nin mɔgɔw bɛ se ka kirinni jugumanba sɔrɔ, hakiliɲagami bɛ se ka kɛ u la, a ɲɔgɔnnaw.

Tuma jumɛn na ne ka kan ka taa dɔgɔtɔrɔso la?

Ni TSC bɛ aw walima aw den na, a nafa ka bon ka taa dɔgɔtɔrɔso la tuma ni tuma aw ka ɲɛnamaya bɛɛ kɔnɔ. O bɛ se ka dɛmɛ don ka gɛlɛya kuraw bɛɛ dɔn ani k’u furakɛ joona.

Aw ka kan ka taa furakɛli kɔrɔtɔlenw yɔrɔ (ETU) la tuma jumɛn?

Ni kirinni bɛ tɛmɛ miniti 5 kan (fit) walima kirinni caman bɛ tugu ɲɔgɔn na (status epilepticus) o ye furakɛli kɔrɔtɔlen ye. O cogo la, banabagatɔ ka kan ka taa ni a ye dɔgɔtɔrɔso la joona furakɛli yɔrɔ la (ETU).

Ka fara o kan, ni taamasiɲɛ dɔw bɛ aw la, dɔgɔtɔrɔ y’a fɔ aw ye ko aw ka aw janto minnu na kɛrɛnkɛrɛnnenya la (misali la, kungolodimi jugumanba, sugunɛdimi), aw bɛ dɔgɔtɔrɔ ka ladilikan ɲini joona.