Yala yiriwali gɛlɛyaw bɛ i denmuso la wa? Yala an bɛna kuma Rett Syndrome kan wa?

I denmisɛnnin, kɛrɛnkɛrɛnnenya la npogotiginin dɔ, bɛ se ka kɛ ko a ye yiriwali kɔtigɛ walima ka gɛlɛya dɔw kɔlɔsi u tun bɛ fɛn minnu kɛ fɔlɔ. Miiri k’a filɛ, denmisɛn min tun bɛ ka ɲɛ kalo wɔɔrɔ ɲɔgɔn kɔnɔ, o barika banna ka fɛn kuraw dege, ka ɲinɛ fɛn minnu na fɔlɔ, a bɛ ɲinɛ olu kɔ. A bɛnnen don kosɛbɛ ba walima fa ka siran kosɛbɛ ani ka hami ni u ye nin ɲɔgɔnna fɛn ye. Bi an bɛna kuma bana dɔ kan min man ca kosɛbɛ, nka a nafa ka bon k’a dɔn, min bɛ npogotigininw de kan kosɛbɛ. an bɛ min wele ko Rett Syndrome , o ye nin ye .

Rett Syndrome ye mun ye? N'an y'a fɔ cogo nɔgɔman na...

N’an y’a fɔ cogo nɔgɔman na, Rett Syndrome ye bana ye min man teli ka sɔrɔ jamu ni hakili la . A bɛ npogotigininw de minɛ kosɛbɛ. A bɛ sɔrɔ jamu dɔ fɛ min bɛ sɔrɔ jamu dɔ la an farikolo la, kɛrɛnkɛrɛnnenya la jamu min bɛ wele ko `MECP2`. Nin `MECP2` jamu in jɔyɔrɔ ka bon kosɛbɛ an ka hakili yiriwali la ani kunnafoniw falenfalenni na nɛrɛmuguma ni ɲɔgɔn cɛ, o kɔrɔ ye ko nɛrɛmuguma ni ɲɔgɔn cɛ jɛɲɔgɔnya (synapse) O la, ni fɛn dɔ Changé (Yɛlɛma) o jɛnɛya in na, o bɛ nɔ bila den kunsɛmɛ yiriwali la.

O cogo la, den ka ɲɛnamaya kalo fɔlɔw, a ka ca a la fo ka se kalo 6 ɲɔgɔn ma, olu bɛ yiriwa i n’a fɔ denmisɛn tɔw. U bɛ fɛnw kɛ minnu bɛ bɛn u si hakɛ ma, i n’a fɔ ka wuluwulu, ka nisɔndiya, ani ka u senw lamaga. Nka, kalo 6 ɲɔgɔn tɛmɛnen kɔ, den bɛ daminɛ ka bɔnɛ seko ni seko minnu na, u tun bɛ minnu kalan fɔlɔ. Misali la, se min bɛ mɔgɔ ye ka tulonkɛfɛn minɛ ni bolo fila ye, ka a bolo kɔrɔta u ba la, ka kuma fɔ, o bɛ dɔgɔya. Nin taamasiɲɛ ninnu bɛ ye waatiw la minnu tɛ kelen ye ni den bɛ ka bonya. Nka, fɛn kelen min ka kan ka to aw hakili la, o ye ko hali ni nin taamasiɲɛ ninnu bɛ juguya (ka taa ɲɛ) waati tɛmɛnen kɔfɛ, u tɛ tunun pewu. O la, o denmisɛnw mago bɛ ladonni ni dɛmɛ kɛrɛnkɛrɛnnen na u ka ɲɛnamaya bɛɛ kɔnɔ.

Rett Syndrome taamasiɲɛw ye jumɛnw ye?

I n’a fɔ a fɔra cogo min na ka tɛmɛ, den bɛ se ka bonya cogo bɛnnen na fo ka se kalo 6 ɲɔgɔn ma. Rett Syndrome taamasiɲɛ fɔlɔw ye yiriwali kɔtigɛbaliya ye . O kɔrɔ ye ko den bɛ kɔtigɛ ka fɛnw kɛ minnu bɛ bɛn a si hakɛ ma, misali la, a tɛ wuluwulu ni denmisɛn tɔw bɛ ka wuluwulu, ka u bolow kɔrɔta, walima ka kuma daminɛ.

Ni den bɛ kɔrɔbaya, yiriwali kɔsegin taamasiɲɛw, minnu na, fɛn minnu kalanna, olu bɛ tunun kokura, olu bɛ ye ka jɛya.

Taamasiɲɛ minnu bɛ den fasaw, a lamagacogo ani a kɛcogo:

• Gɛlɛya minnu bɛ balansi ni ɲɔgɔndɛmɛ na taama senfɛ: Jiginni ni taama gɛlɛya. A bɛ se ka bin tuma caman na.
• Kuma gɛlɛya:A bɛ gɛlɛya ka kuma fɔ ani ka hakilinaw fɔ. Denmisɛn dɔw yɛrɛ tɛ se ka kuma pewu.
• Dumuni munumunu walima a ɲimi gɛlɛya: O bɛ se ka kɛ sababu ye den kana balo nafama sɔrɔ, ka a girinya dɔgɔya, ka balodɛsɛ sɔrɔ .
• Farikolo fanga dɔgɔyali walima a gɛlɛyali (spasticité): sebaliya ka bolokɔniw kunbɛn ka ɲɛ.
• Gɛlɛya ka lamaga-lamagali dɔntaw kɛ ni yamaruya ye (apraxia): Misali la, i tɛ se k’o kɛ ni a fɔra i ye ko i ka "i bolo kɔrɔta", nka tuma dɔw la, i bɛ se ka i bolo kɔrɔta k'i jɔ yɔrɔ kelen na.
• Bolo lamagacogo minnu bɛ segin-ka-bɔ ɲɔgɔn na : Bololabaara segin-segin i n’a fɔ sɔgɔsɔgɔli, sɔgɔsɔgɔli, ani bolonɔbila, olu ye bana in taamasiɲɛw ye kosɛbɛ.

Taamasiɲɛ wɛrɛw:

• Sunɔgɔ gɛlɛyaw: A tɛ sunɔgɔ ka ɲɛ su fɛ, ka to ka kunun.
• Dumunikɛcogo gɛlɛyaw: fɛn minnu bɛ i n’a fɔ kɔsegin ni kɔnɔboli .
• Hakilila-dɛsɛ: Kalan seko bɛ se ka dɔgɔya.
• A bɛ to ka lafiyabaliya ni a dimi.
• Skɔli: Kɔkolo bɛ kuru ka taa kɛrɛ fɛ.
• Bonya dɔɔni dɔɔni: Fɛn minnu bɛ i n’a fɔ mɔgɔ janya ni a girinya bɛ se ka kɛ dɔɔni dɔɔni ka tɛmɛ denmisɛn tɔw kan.

Taamasiɲɛ minnu bɛ se ka mɔgɔ ka ɲɛnamaya bila farati la tuma dɔw la, olu ye:

• Ninakili gɛlɛyaw : Ninakilibaliya, ninakili minɛcogo, a ɲɔgɔnnaw.
• Dusukun tantannibaliya.
• Kɔnɔboli.

Yala Rett Syndrome bɛ denmisɛn minnu na, olu ɲɛda cogoya kɛrɛnkɛrɛnnen don wa?

Rett Syndrome bɛ denmisɛn minnu na, olu kunkolo bɛ se ka dɔgɔya ni i y’a suma ni u farikolo tɔ ye. o bɛ wele ko mikrosɛfali . O bɛ se ka kɛ sababu ye ɲɛda cogoyaw ka bɔ kɛnɛ kan dɔɔni. Nka, ɲɛda cogoya kɛrɛnkɛrɛnnen si tɛ yen min ɲɔgɔn tɛ nin bana in na, i n’a fɔ “ɲɛda bɛ nin cogo in na.”

tuma dɔw la , Rett Syndrome taamasiɲɛw bɛ se ka kɛ i n' a fɔ bana wɛrɛ min bɛ wele ko Angelman Syndrome . Fɛn fila bɛ ɲɔgɔn na, i n’a fɔ kuma ni kumaɲɔgɔnya gɛlɛyaw, yiriwali kɔtigɛbaliya, kirinni, ani sunɔgɔ gɛlɛyaw. Nka, Angelman Syndrome ɲɛda cogoya kɛrɛnkɛrɛnnenw bɛ a la, i n’a fɔ ɲɛw jugumanba, da ka bon, ani yɔrɔbaw bɛ ɲinw ni ɲɔgɔn cɛ. Rett Syndrome tɛ ni o ɲɛda cogoya kɛrɛnkɛrɛnnenw ye.

Rett ka bana taamasiɲɛw

Nin bana in bɛ tɛmɛ cogoya wɛrɛw fɛ ni den bɛ ka bonya. O waati kelen-kelen bɛɛ la, den bɛ se ka bana taamasiɲɛ wɛrɛw jira. Nka, denmisɛnw bɛɛ tɛ tɛmɛ nin wale ninnu bɛɛ fɛ cogo kelen na. Misali la, Rett Syndrome bɛ denmisɛn dɔw la, a bɛ se ka kɛ u tɛ se ka taama abada.

Rett ka bana taamasiɲɛw:

1. Taabolo fɔlɔ - A daminɛ joona : O bɛ daminɛ kalo 6 ni kalo 18 cɛ. Den ka yiriwali bɛ sumaya. Misali la, wuluwulu bɛ mɛn, wa a bɛ dɔgɔya ka ɲɛsin ba ma. Den fasaw tɛ jɔ kosɛbɛ ( fasa dɔgɔyali ), wa balodɛsɛ bɛ se ka kɛ a la.

2. Taabolo filanan - Taabolo min bɛ taa ɲɛ joona : A ka ca a la o bɛ kɛ san 1 ni san 4 cɛ. A bɛ se ka kɛ ko den tɛ se ka kuma ani ka baara kɛ n’a bolow ye tuguni. U bɛ se k’u bolokɔnincininw siri tuma caman na. Denmisɛn dɔw fana bɛ se ka kɛwalew jira minnu bɛ i n’a fɔ denmisɛnw ta minnu bɛ ni autizmu bana ye, i n’a fɔ u tɛ u mago don mɔgɔw ka jɛɲɔgɔnya la tuguni.

3. Taabolo sabanan - Plateau walima temporaire stable stade : A ka ca a la o bɛ kɛ san 2 ni san 10 cɛ. Taamasiɲɛ dɔw minnu tun ka jugu a taabolo filanan na, misali la, kumaɲɔgɔnya ni farikoloɲɛnajɛ seko, olu bɛ se ka ɲɛ dɔɔni. U bɛ se k’a jira ko u b’a fɛ ka kɛ mɔgɔw fɛ tugun. Kɔnɔboli ka teli ka kɛ o waati kɔnɔ.

4. Taabolo IV - Motɛri dɔgɔyali kɔfɛ : O bɛ se ka kɛ waati o waati Etape III kɔfɛ. Den bɛ se ka taama seko ni farikolo fanga tiɲɛ. Nka, den ka kumaɲɔgɔnya ni a ka miirili seko ka kan ka to ka kɛ nin waati in na.

Rett Syndrome sababuw ye mun ye?

A ka ca a la, Rett Syndrome bɛ sɔrɔ jamu dɔ fɛ min bɛ sɔrɔ jamu dɔ la min bɛ wele ko `MECP2`. I n’a fɔ n y’a fɔ cogo min na ka tɛmɛ, nin jɛnɛya in bɛ farikolojɔlifɛn dɔ dilanni ɲɛminɛ min bɛ wele ko `MECP2`. Nin farikolojɔli dumuni in bɛ dɛmɛ ka jɛɲɔgɔnyaw (synapses) mara farikoloɲɛnajɛw ni ɲɔgɔn cɛ ani ka den kunkolo dɛmɛ ka baara kɛ ka ɲɛ.

Nka, Rett Syndrome banabagatɔ bɛɛ tɛ tali kɛ MECP2 jamu la. Jɛnɛya suguya dɔw (misali la, deletions) walima fɛn wɛrɛw minnu bɛ jamu wɛrɛw la, i n’a fɔ CDJK5 ani FOXG1, olu fana bɛ se ka kɛ sababu ye ka Rett Syndrome atypical banaw sɔrɔ. Tuma dɔw la, o taamasiɲɛw bɛ se ka sɔrɔ jamu dɔw fɛ minnu ma dɔn fɔlɔ.

Min nafa ka bon, o ye ko nin jamu caman caman cili bɛ kɛ a yɛrɛma/a kɛcogo la . O kɔrɔ ye ko a ka c’a la, a tɛ ciyɛn sɔrɔ bangebagaw fɛ ka taa denw na. O la sa, i man kan ka jalaki kojugu o ko la.

Yala cɛdenw bɛ Rett Syndrome sɔrɔ wa?

A ka ca a la, Rett Syndrome bɛ npogotigininw dɔrɔn de minɛ. O bɛ Kɛ k’a sababu Kɛ jamu yeli min bɛ Nà ni a ye, o bɛ Kɛ X kolosinsinnan kan. I n’a fɔ aw b’a dɔn cogo min na, muso ka X kolosinsinnan (XX) fila bɛ a la.

Ikomi cɛdenw bɛ ni X kolosinsinnan kelen ye ani Y kolosinsinnan kelen (XY), o bana in man ca kosɛbɛ. Ni nin fɛn in bɛ cɛnin dɔ la a ka X kolosinsinnan kelenpe kan, a taamasiɲɛw bɛ se ka juguya kosɛbɛ. O bɛ se ka kɛ sababu ye ka kɔnɔtiɲɛ walima saya yɛrɛ bange waati la.

Dɔgɔtɔrɔw bɛ nin bana in wele cɛdenw na ko ``MECP2-related severe neonatal encephalopathy.'' Nin bana in bɛ se ka taamasiɲɛw fana jira minnu ni Rett ka bana bɛ tali kɛ ɲɔgɔn na, i n’a fɔ hakiliɲagami, kirinni, ani lamaga gɛlɛya.

Gɛlɛya minnu bɛ sɔrɔ Rett Syndrome fɛ

Nin bana in bɛ denmisɛn min na, o bɛ se ka nin gɛlɛya ninnu sɔrɔ, gɛlɛya dɔw bɛ se ka kɛ a ka ɲɛnamaya bila farati la:

• Aspiration pneumonia : Sɔgɔsɔgɔninjɛ bana min bɛ sɔrɔ dumuni walima minfɛn donta fɛ fogonfogon la.
• Kɔnɔboli: A bɛ to ka kirin.
• Dusukun tantanni: Misali la, bana dɔw i n’a fɔ Long QT syndrome .
• Fogonfogon walima ninakili gɛlɛyaw.

Dɔgɔtɔrɔw bɛ Rett Syndrome sɛgɛsɛgɛ cogo di?

Dɔgɔtɔrɔ bɛ Rett Syndrome sɛgɛsɛgɛ ni a bɛ den sɛgɛsɛgɛ ani ka sɛgɛsɛgɛliw kɛ minnu ka kan. I n’a fɔ denba, i bɛ se ka sigasiga ko fɛn dɔ ma ɲɛ ni i den tɛ ka yiriwali taamasiyɛnw dafa a si hakɛ la, kɛrɛnkɛrɛnnenya la san fɔlɔ kɔnɔ. O waati de la aw ka kan ka taa ni aw den ye denmisɛnw ka dɔgɔtɔrɔ dɔ fɛ walima aw ka denbaya dɔgɔtɔrɔ fɛ.

Aw ka dɔgɔtɔrɔ bɛna aw den sɛgɛsɛgɛ ka a taamasiɲɛw lajɛ. O kɔ, u bɛna sɛgɛsɛgɛliw kɛ walasa ka bana wɛrɛw bɔ kɛnɛ kan minnu taamasiɲɛw bɛ se ka kɛ ɲɔgɔn fɛ. A ka ca a la, bana in bɛ se ka tiɲɛ ni joli sɛgɛsɛgɛli ye min bɛ kɛ ka fɛn dɔ Changer MECP2 jamu la. Nin jamu sɛgɛsɛgɛli in tɛ labɛn kɛrɛnkɛrɛnnen si wajibiya walima ka taa dɔgɔtɔrɔso la.

A ka ca a la, bana sɛgɛsɛgɛli bɛ kɛ kalo 6 ni kalo 18 cɛ, barisa o waati de la bana taamasiɲɛw bɛ daminɛ.

Ikomi Rett Syndrome ye bana ye min man teli ka kɛ, a bɛ se ka gɛlɛya tuma dɔw la ka a sɛgɛsɛgɛli sɔrɔ o yɔrɔnin bɛɛ. A bɛ se ka waati dɔ ta walasa dɔgɔtɔrɔso jɛkulu ka bana tɔw bɛɛ bɔ kɛnɛ kan ani ka a jira ko o de don. A bɛ se ka kɛ fɛn ye min bɛ mɔgɔ dusu tiɲɛ ka jaabiw makɔnɔ, nka ni aw ye bana sɛgɛsɛgɛcogo jɛlen sɔrɔ, o bɛ se ka dɔgɔtɔrɔso jɛkulu dɛmɛ ka aw den ka bana taamasiɲɛw furakɛ.

Rett Syndrome bɛ furakɛ cogo di?

Furakɛli suganditaw bɛ bɔ den ka bana taamasiɲɛ kɛrɛnkɛrɛnnenw de la. Misali la, furaw bɛ se ka di kirinni ni lamaga-lamagali gɛlɛyaw ma. Ni gɛlɛya bɛ den na farikoloɲɛnajɛ ni kanko seko la, dɔgɔtɔrɔ bɛ se ka furakɛli dɔw fɔ a ye i n’a fɔ:

• Baarakɛcogo furakɛli : A bɛ dɛmɛ don don o don baaraw la ani ka bolo baara ɲɛ.
• Farikoloɲɛnajɛ: A bɛ dɛmɛ don fɛnw na i n’a fɔ taama, balansi ani farikolo fanga bonya.
• Kuma furakɛli: A bɛ dɛmɛ don ka kuma ni kumaɲɔgɔnya ɲɛ.

Denmisɛn minnu si bɛ san 2 la ka tɛmɛ o kan, fura dɔ min tɔgɔ ye ko Trofinetide , o ye ɲɛtaa ɲuman jira kɛnɛyaso sɛgɛsɛgɛliw la . O ye furakɛli fɔlɔ ye min sɔnna U.S. Food and Drug Administration (FDA) fɛ kɛrɛnkɛrɛnnenya la Rett Syndrome . A tɛ fura ye, nka a bɛ jate bana caman caman cili fura ye. Aw ka kan ka baro kɛ o fɛɛrɛ in kan ni aw ka dɔgɔtɔrɔso jɛkulu ye ani ka desizɔn ta ɲɔgɔn fɛ.

Ka fara o kan, aw den bɛ se ka nafa sɔrɔ ninnu na:

• ka bolokɔni don walima ka opereli kɛ sɔgɔsɔgɔninjɛ la .
• Aw bɛ to ka sɛgɛsɛgɛli kɛ ni dusukun tantanni tɛ a la.
• Balo dɛmɛni.
• Kalan kɛrɛnkɛrɛnnenw porogaramuw lakɔliso la.

Sisan fura tɛ yen min bɛ wele ko Rett Syndrome . Nka, aw den ka dɔgɔtɔrɔw bɛ se ka dɛmɛ don ka bana taamasiɲɛw kunbɛn a ka ɲɛnamaya bɛɛ kɔnɔ.

Tuma jumɛn na ne ka kan ka taa ni ne den ye ka taa dɔgɔtɔrɔso la?

Ni aw y’a ye ko aw den tɛ ka yiriwali taamasiɲɛw dafa minnu bɛ bɛn a si hakɛ ma, kɛrɛnkɛrɛnnenya la kalo 6 kɔfɛ, aw bɛ taa dɔgɔtɔrɔso la joona.

Ni a sɔrɔla ko aw den ye Rett Syndrome , ni kɔlɔlɔ dɔw bɛ a la furakɛli fɛ, walima ni a taamasiɲɛ kuraw bɛ a la walima ni a taamasiɲɛ minnu bɛ a la, olu bɛ juguya, aw bɛ aw ka dɔgɔtɔrɔ ladɔnniya.

Den min bɛ ni Rett Syndrome ye, o ka ɲɛnamaya bɛ kɛ cogo di?

Rett Syndrome bɛ mɔgɔ caman na, olu bɛ ɲɛnamaya ɲuman kɛ fo ka se u san 40 ma ani ka tɛmɛ o kan. Ni bana taamasiɲɛw man jugu, aw den si bɛ se ka kɛ cogo bɛnnen na. Nka, ni kɛnɛyako gɛlɛyaw donna, a si hakɛ bɛ se ka surunya.

Mɔgɔ min ka fisa ka ɲininkali kɛ aw den ka ɲɛnamaya kɔnɔ, o ye u ka dɔgɔtɔrɔ ye. A bɛ se k’i den ka ko kɛrɛnkɛrɛnnen faamu, k’o ɲɛfɔ i ye.

Rett Syndrome (Syndrome de Rett) ka ɲɛfɔli

Rett Syndrome ye bana ye min bɛ sɔrɔ a si bɛɛ la. A taamasiɲɛw bɛ mɔgɔ kelen-kelen bɛɛ minɛ cogo wɛrɛ la. A bɛ se ka kɛ ko aw den bɛ se k’a lamagacogo kɔrɔsi, ka taama ani ka kumaɲɔgɔnya kɛ a yɛrɛ ma. Nka, u mago bɛna kɛ ladonni na tile ni su u si bɛɛ kɔnɔ.

Ani fana, aw den ka kan ka taa tuma bɛɛ ni u ka dɔgɔtɔrɔso jɛkulu ye walasa ka bana taamasiɲɛw ɲɛnabɔ ka ɲɛ ani ka gɛlɛyaw bali. Rett Syndrome dɔw la, gɛlɛyaw bɛ se ka kɛ sababu ye ka mɔgɔ faga joona.

Ni aw y’a dɔn ko hakilibana dɔ bɛ aw den na min man teli ka sɔrɔ, o bɛ se ka kɛ aw degun ye. Aw bɛ se ka jɔrɔ ani ka dusukasi ko aw den tɛ ka yiriwa i n’a fɔ denmisɛn tɔw. Hali ni aw den farikolo mago bɛna kɛ waati ni ladonni caman na ni a bɛ ka bonya, aw kana jigiya dabila. Dɔgɔtɔrɔw bɛna kɛ aw fɛ sira bɛɛ la walasa ka aw den mago bɛ ladonni min na.

ɲininikɛlaw bɛ ka fura kuraw sɔrɔ minnu bɛ se ka denmisɛnniw dɛmɛ minnu bɛ ni Rett Syndrome ye , kɛnɛyaso sɛgɛsɛgɛliw fɛ . Ni aw bɛ ɲininkali dɔw kɛ aw den ka ɲɛnamaya kɛcogo kan walima a furakɛcogo kan, aw bɛ dɔgɔtɔrɔ ɲininka.

Fɛn minnu nafa ka bon kosɛbɛ an ka kan ka to an hakili la (Take-Home Message) .

A ka ca a la, i bɛ degun ni i y’a ye ko Rett Syndrome bɛ i den na . Nka aw hakili to nin kow la:

• I kelen tɛ: Bangebaga wɛrɛw bɛ yen minnu bɛ o ko suguw de kunbɛn. Dɔgɔtɔrɔw, furakɛlikɛlaw ani dɛmɛjɛkuluw labɛnnen don k’aw dɛmɛ.
• Aw bɛ a dɔn joona, o nafa ka bon: Ni aw ye a ye ko aw den ka kɔrɔbayali bɛ mɛn, aw bɛ dɔgɔtɔrɔso laadilikan ɲini joona.
• Furakɛli bɛ se ka bana taamasiɲɛw kunbɛn: Hali ni fura dafalen tɛ, furakɛli ni furakɛli bɛ se ka den ka ɲɛnamaya kɛcogo ɲɛ.
• Den bɛɛ tɛ kelen ye: Bana in taamasiɲɛw ni a nɔfɛkow tɛ kelen ye mɔgɔ kelen-kelen bɛɛ la. Dɔgɔtɔrɔw bɛna aw dɛmɛ ka ladonni fɛɛrɛ dɔ labɛn min bɛ bɛn aw den ma kosɛbɛ.
• Aw ka to jigiya la: Furakɛcogo dɔnniya bɛ ka taa ɲɛ ani ɲinini kuraw bɛ ka kɛ, o la sa, a nafa ka bon ka to hakilina ɲuman na.

Fɛn min nafa ka bon kosɛbɛ, o ye ka kanuya, ladonni ani furakɛli kɛcogo ɲuman di i den ma.

` Rett Syndrome, jamu banaw, hakilibanaw, den ka yiriwali, MECP2 jamu, yiriwali kɔtigɛlen