Yala nin taamasiɲɛ ninnu bɛ aw den na wa? An ka kuma Noonan Syndrome kan

I n’a fɔ ba walima fa, n’a sɔrɔ i bɛ hami tuma bɛɛ i den ka kɛnɛya n’a ka yiriwali la. Tuma dɔw la, a ka ca a la ni aw bɛ siran dɔɔni ye ni aw ye fɛn misɛnniw ye aw den yecogo la walima ni a yiriwali gɛlɛyaw bɛ a la. Bi an bɛna kuma jamu cogoya nafama dɔ kan, o bangebaga suguw ka kan ka min dɔn. O ye bana ye min bɛ wele ko Noonan Syndrome.

Noonan ka bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Noonan Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ . A sababu ye fɛn dɔ yeli ye an farikolo la. Nin bana in bɛ se ka nɔ bila aw den na cogoya wɛrɛw la. Den dɔw bɛ bange ni nin bana in ye, nka a taamasiɲɛw bɛ se ka nɔgɔya kosɛbɛ . O kɔrɔ ye k’u bɛ se ka ɲɛnamaya kɛ cogo la min bɛ bɛn gɛlɛyabaw ma. Nka, gɛlɛya caman bɛ se ka sɔrɔ denmisɛn dɔw la .

O cogo la, den ɲɛda bɛ se ka kɛ ni danfara dɔw ye . Misali la, ɲɛda sanfɛla, ɲɛw bonya, tulolanɛgɛw bɛ duguma, ani kɔ surun. Ani fana, Noonan Syndrome bɛ denmisɛn caman na, olu si hakɛ ka surun, o kɔrɔ ye ko u bɛ se ka kɛ i n’a fɔ u ka surun . Ɲɛgɛlɛyaw, farikolo fanga dɔgɔyali, ani dusukunnabana bangenenw fana ka ca.

Nka nin ye ko ye, fura tɛ Noonan Syndrome la. Nka, i kana i hakili ɲagami! Aw ka kan ka laadilikan minnu di aw ma walasa aw den ka kɛnɛya ka ɲɛ, aw ka dɔgɔtɔrɔ bɛ se ka o di aw ma. U bɛ se ka baara kɛ ni aw ye fana walasa ka gɛlɛyaw bali walima ka u dɔn minnu bɛ se ka sɔrɔ bana in fɛ. O kɔfɛ, i den bɛ se ka ɲɛnamaya dafalen kɛ ani ka baara kɛ .

Jɔn de bɛ nin bana in sɔrɔ? A ka ca cogo di?

Noonan ka bana ye bana ye min bɛ se ka sɔrɔ mɔgɔ bɛɛ la bange waati . An tɛ se k’a fɔ mɔgɔ min bɛna a yiriwa ani jɔn tɛna a yiriwa. Nka jateminɛ na, Noonan Syndrome bɛ mɔgɔ minnu na, olu 50% ɲɔgɔn bɛ bana in ciyɛn ta u bangebaga dɔ fɛ. A ka ca a la, Noonan Syndrome bɛ mɔgɔ min na, o tigi bɛ se ka a lase a den ma 50%.

Noonan Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ . O kɔrɔ ye ko a ka ca dɔɔni ka tɛmɛ jamu bana wɛrɛw dɔw kan minnu man ca. Ni an y’a fɔ k’a jɛya, a fɔra ko mɔgɔ 1000 ni 2500 o 2500 cɛ, kelen bɛ se ka nin bana in sɔrɔ.

Mun de bɛ Noonan ka bana bila mɔgɔ la?

O bana in sababu ka ca ni anzimu dɛsɛ ye min bɛ an farikolo yɔrɔw dɛmɛ ka bonya ani ka yiriwa.A bɛ sɔrɔ fɛn dɔw yeli fɛ jamu dɔw la (mutations). Kɛrɛnkɛrɛnnenya la, farikolojɔlifɛn minnu bɛ sɔrɔ o jamu caman caman cili fɛ, olu bɛ to baara la ka mɛn ka tɛmɛ u ka kan ka kɛ cogo min na. O bɛ farikolokisɛw bali ka bonya ani ka tila ka ɲɛ.

Fɛɛrɛ fila bɛ yen minnu bɛ se ka kɛ sababu ye ka Noonan Syndrome sɔrɔ:

• Ciyɛn: Den bɛ nin bana in ciyɛn ta a bangebaga dɔ fɛ.
• Yɛlɛma yɛrɛma : Bana min bɛ sɔrɔ jamu caman cili fɛ, k’a sɔrɔ denbaya kɔnɔ mɔgɔ si ma o bana sɔrɔ fɔlɔ.

Sisan, jamu sɛgɛsɛgɛli bɛ se ka jamu sɛgɛsɛgɛli kɛ Noonan Syndrome bɛ mɔgɔ 80% ɲɔgɔn na. Nka hali bi ɲininikɛlaw ma bana in sababu tigitigi dɔn jamanaden tɔw la.

Yala bana wɛrɛw bɛ yen minnu ni Noonan ka bana bɛ tali kɛ ɲɔgɔn na wa?

Ɔwɔ, Noonan ka bana ye bana ye min bɛ banaw kulu dɔ la minnu bɛ tali kɛ ɲɔgɔn na, n’olu bɛ wele ko RASopathies . Nin bana ninnu bɛɛ bɛ sɔrɔ fɛnw fɛ minnu tɛ kelen ye, i n’a fɔ farikolokisɛw bɛ bonya ka taa ɲɛ cogo min na. O la, u taamasiɲɛw bɛ ɲɔgɔn na kosɛbɛ.

Bana wɛrɛ minnu bɛ `RASopathies` kulu la olu ye :

• Dusukun ni farilajidɛsɛbana (syndrome cardiofaciocutané).
• Kostello ka bana (syndrome de costello).
• Neurofibromatose suguya fɔlɔ (NF1) .
• Sidamu min bɛ wele ko Legius syndrome
• Noonan ka bana min bɛ ni lentigine caman ye (a tun bɛ wele fɔlɔ ko LEOPARD bana) .
• Turner ka banakisɛfagalanw

Noonan ka bana taamasiɲɛw ye jumɛnw ye?

Noonan Syndrome taamasiɲɛw bɛ se ka ɲɔgɔn ta mɔgɔ kelen-kelen bɛɛ la. Mɔgɔ dɔw ka bana taamasiɲɛw ka nɔgɔn kosɛbɛ, ka sɔrɔ dɔw ka bana taamasiɲɛw ka jugu, minnu bɛ se ka u ka ɲɛnamaya bila farati la. A bɛ bɔ den farikolo yɔrɔ min na, o de bɛ a la. A taamasiɲɛ fanba bɛ daminɛ ni den bɛ ka bonya kɔnɔbara la, walima a bɛ bɔ sani den ka se san 11 ma .

Ɲɛda cogoya yelenw

ɲɛda cogoya minnu bɛ ye denmisɛnniw na minnu bɛ ni Noonan Syndrome ye , olu bɛ se ka ban dɔɔni dɔɔni ni den sera balikuya la . O kɔrɔ ye ko u bɛ se ka kɛ mɔgɔ ye min tɛ ye kosɛbɛ ka tɛmɛ u tun bɛ cogo min na fɔlɔ. O fɛnw bɛ se ka kɛ ninnu ye:

• Ka kɛ ni ɲɛda sanfɛla ye .
• Ka kɛ ni jirisunba dɔ ye sanfɛla dawolo cɛmancɛ la.
• Ɲɛkisɛw bɛ jigin (ptose).
• Ka kɛ ni nugu fla ye ani ka kɛ ni bulɔgu ye.
• Tulokisɛw bɛ bila duguma ka tɛmɛ a cogo kɔrɔ kan.
• Ɲɛ bulu jɛman walima ɲɛ jɛman.
• Strabismus ye bana ye min na ɲɛw ni ɲɔgɔn cɛ janya bɛ bonya ani ka ɲɛw kɔrɔta ka taa duguma, tuma dɔw la u bɛ wuli ka taa ɲɔgɔn fɛ.

Farikolo cogoya wɛrɛw

Ka fara ɲɛda cogoya kan, farikolo cogoya damadɔ wɛrɛw bɛ yen minnu bɛ sɔrɔ ɲɔgɔn fɛ:

• Senkɔniw walima senkɔniw funu.
• Nɛgɛ minnu cogoya walima u kulɛri tɛ deli ka kɛ.
• Kɔ surun ni kunsigi dɔgɔyalen bɛ kɔ kɔfɛ, a bɛ se ka kɛ ni jiribolo ye kɔ kɛrɛw la.
• Kɔrɔya surunyali (janya surunya ka kɛɲɛ ni si hakɛ ye).
• Disi min jiginna (pectus excavatum) walima disi kolo min bɛ bɔ kɛnɛma (pectus carinatum).

Dusukunnabana

Noonan Syndrome bɛ denmisɛn caman na , dusukunnabana bangenen bɛ se ka sɔrɔ u la . A bɛ se ka kɛ denmisɛn dɔw mako bɛ furakɛli teliya la nin dusukunnabana in na. Dɔ wɛrɛw bɛ se ka bana taamasiɲɛw sɔrɔ fo u si kɔfɛ. Dusukunnabana minnu ka teli ka sɔrɔ olu ye:

• Atrial septal defect (banakisɛfagalan min bɛ wele ko atrial septal defect).
• Dusukun tantanni min bɛ wele ko hypertrophique cardiomyopathie.
• Fogonfogon la joli siraw sɔgɔsɔgɔninjɛ.

Gɛlɛya wɛrɛ minnu bɛ se ka sɔrɔ

Ka fara o kan, Noonan Syndrome bɛ se ka gɛlɛya caman wɛrɛw lase mɔgɔ ma:

• Ninakili gɛlɛya, misali la, ka a sababu kɛ ɲɛgɛnɛsira nɔgɔlen ye (laryngomalacia).
• Limfedema (nɔgɔji min bɛ dalajɛ bolokɔniw walima senw na).
• yiriwaliko latɛmɛni .
• Joli bɛ bɔ ka tɛmɛ a cogo kɔrɔ kan walima a bɛ kurukuru nɔgɔya la.
• Dumuni gɛlɛyaw denmisɛnniw na.
• Cɛdenw ka cɛya minnu tɛ jigin. Ni a ma furakɛ, o bɛ se ka nɔ bila bangeko gɛlɛyaw la.
• Sɔgɔsɔgɔninjɛ (Scoliosis).
• Yeli gɛlɛyaw walima mɛnni gɛlɛya (mɛnni dɛsɛ).
• Bangekɔlɔsi fɛɛrɛw minnu bɛ sɔrɔ sugunɛ fɛ.

Gɛlɛya wɛrɛ jumɛnw bɛ sɔrɔ Noonan Syndrome fɛ?

Noonan Syndrome bɛ denmisɛn caman na , u bɛ bonya dɔɔni dɔɔni ka tɛmɛ a cogo kɔrɔ kan, ni u sera balikuya ma. Nka, u bɛ se ka bange ni u janya bɛnnen don. 25% ɲɔgɔn bɛ ni kalanbaliya ye. U damadɔ fana bɛ se ka kɛ ni hakiliɲagami ye. Noonan Syndrome bɛ denmisɛn minnu na, olu 10% ni 15% cɛ, olu bɛ se ka kalan kɛrɛnkɛrɛnnen kɛ. O bana bɛ se ka kɛ sababu ye fana ka yiriwali bila kɔfɛ, ka kɛwalew gɛlɛyaw lase mɔgɔ ma, walima ka kuma gɛlɛyaw lase mɔgɔ ma.

Noonan Syndrome bɛ denmisɛn dɔw la , jolidɛsɛ miyɛlomonositiki denmisɛnninw (JMML) , o ye jolidɛsɛ suguya ye min man teli ka sɔrɔ denmisɛnniw na.Sinna kansɛri walima denmisɛnniw ka kansɛri wɛrɛw sɔrɔli farati bɛ se ka bonya dɔɔni. Nka, a bɛ miiri ko farati bɛɛ lajɛlen bɛ se 4% ɲɔgɔn ma ni i si bɛ san 20. O la, aw hakili to a la ko farati ka dɔgɔn kosɛbɛ .

Noonan ka bana bɛ sɔrɔ cogo di?

Aw ka dɔgɔtɔrɔ bɛ se ka sigasiga Noonan Syndrome la farikolo sɛgɛsɛgɛli kɔfɛ ani ka aw den ka bana taamasiɲɛw lajɛ. Walasa ka bana sɛgɛsɛgɛli dafa ani ka bana wɛrɛw bɔ kɛnɛ kan, dɔgɔtɔrɔ bɛ se ka a fɔ aw ye ko aw ka jamu sɛgɛsɛgɛli kɛ .

Sɛgɛsɛgɛli damadɔ wɛrɛw bɛ se ka kɛ o kama:

• Joli jate dafalen (CBC) sɛgɛsɛgɛli.
• Disi lajɛ min bɛ kɛ ni X-ray ye.
• CT scan (CT scan) dɔ.
• Echocardiogramme ye sɛgɛsɛgɛli ye min bɛ dusukun baarakɛcogo lajɛ.
• EKG sɛgɛsɛgɛli (Electrocardiogramme (EKG)).
• Ultrason sɛgɛsɛgɛli dɔ.

Yala fura bɛ yen min bɛ wele ko Noonan Syndrome wa?

Ayi, fura tɛ Noonan Syndrome la. Nka, i kana i hakili ɲagami! Furakɛli nafama dɔw bɛ yen minnu bɛ se ka aw ni aw den dɛmɛ ka bana taamasiɲɛw kunbɛn.

Noonan ka bana bɛ furakɛ cogo di?

Aw den ka dɔgɔtɔrɔso jɛkulu bɛna furakɛli bolodalen dɔ labɛn Noonan Syndrome kan ka da aw den ka bana taamasiɲɛw kan ani u juguya kan. Aw den bɛ se ka furakɛli dɔw kɛ i n’a fɔ:

• Dɛmɛnanw : i n’a fɔ lunɛti walima mɛnnikɛminɛnw.
• Taamacogo walima kuma furakɛli .
• Kalan dɛmɛni kalanko gɛlɛyaw ma.
• Fura minnu bɛ den dusukunnabana , joli bɔli gɛlɛyaw walima a bonya dɔɔni dɔɔni .
• Furakɛli min bɛ kɛ ni bonya hormone ye.
• Furakɛli faralenw i n’a fɔ degun furakɛli, o bɛ lafiya di banaw ma i n’a fɔ ɲɛgɛnɛsiralabanaw.

Tuma dɔw la, dɔgɔtɔrɔ bɛ se ka opereli fɔ aw ye . Aw ye aw hakili to a la ko a dɔnni joona nafa ka bon furakɛli ɲuman na ani ladonni kɔfɛ.

Jɔn bɛ se ka don ne den ka Noonan Syndrome furakɛli jɛkulu kɔnɔ?

Ka fara aw ka denmisɛnw ka dɔgɔtɔrɔ kan, dɔgɔtɔrɔso jɛkulu min bɛ aw den ka kɛnɛya ladon, o bɛ se ka kɛ dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw ye i n’a fɔ:

• Jolilabanaw furakɛli kɛrɛnkɛrɛnnen.
• Dɔgɔtɔrɔ min ka baara ɲɛsinnen bɛ farikoloɲɛnajɛw ma (sɔgɔsɔgɔninjɛ, kɔkolo, ani nɛrɛmuguma) (Sɛgɛsɛgɛlikɛla).
• Kansɛri furakɛla.
• Ɲɛdɔgɔtɔrɔso.
• Jɛnkulu dɔnbaga.
• Dusukunnataw furakɛla.
• Endocrinologist (banakisɛfagalan) dɔnbaga.
• Ɲɛgɛnɛsiraw furakɛla.
• Farikolodɔgɔtɔrɔ (fari, kunsigi ani wuluwulu kɛrɛnkɛrɛnnen).

Aw ka ladonni jɛkulu bɛna furakɛli kɛcogo ɲuman fɔ aw den ye. U bɛna aw den ka bana fana kɔlɔsi ani ka fɛn o fɛn kɛ fura walima furakɛli kɛcogo la, ka kɛɲɛ ni den ka bana ye ani a kɔlɔlɔw.

Yala fɛn dɔ bɛ yen ne bɛ se ka min kɛ walasa ka dɔ bɔ ne den ka Noonan Syndrome farati la wa?

Ayi, aw bɛ se ka foyi kɛ walasa ka dɔ bɔ aw den ka Noonan Syndrome sɔrɔli la. a bɛ sɔrɔ jamu jiginni fɛ . Nka ni Noonan Syndrome bɛ aw ka denbaya kɔnɔ mɔgɔ dɔ la, aw bɛ se ka kuma aw ka dɔgɔtɔrɔ fɛ jiginni ɲɛfɛ jamu sɛgɛsɛgɛli kan, o bɛ se ka kɛ kɔnɔmaya waati .

Noonan Syndrome bɛ mɔgɔ minnu na, olu ka siniɲɛsigi ye mun ye?

Noonan Syndrome bɛ mɔgɔ minnu na, olu fanba bɛ ɲɛnamaya kɛ kɛnɛya la, u yɛrɛma.

Aw den ladonni jɛkulu bɛna baara kɛ ni aw ye walasa ka aw den ka bana taamasiɲɛw ɲɛnabɔ ani ka gɛlɛyaw bali. O la sa, a nafa ka bon ka to jigiya la.

Tuma jumɛn na aw ka kan ka dɔgɔtɔrɔ ka ladilikan ɲini Noonan ka bana ko la?

Ni Noonan Syndrome bɛ dusukunnabana jugumanba lase mɔgɔ ma , opereli ni kɔlɔsili basigilen bɛ se ka kɛ walasa den ka kɛnɛya ani ka to a la. Aw ka dɔgɔtɔrɔ bɛ se ka baro kɛ ni aw ye furakɛli teliyalenw ni furakɛli kuntaalajan fɛɛrɛw kan.

A bɛnnen don ka siran ni den bangenen kura walima den min bɛ ka bonya, o ye furakɛli sɛgɛsɛgɛli sɔrɔ. Nka, denmisɛn caman minnu sɔrɔla ni Noonan Syndrome ye, taamasiɲɛ nɔgɔmanw bɛ u la . Ani, u bɛ taa ɲɛ ka ɲɛnamaya dafalen kɛ, min bɛ baara kɛ. Aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ furakɛli nafamaw kan walima ladonni taabolo minnu bɛ kɛ ka taa a fɛ, minnu bɛ bɛn aw den magow ma. Furakɛli joona bɛ se ka dɔ bɔ aw ka jɔrɔnanko la ani ka den dɛmɛ a ka kɛnɛyako ɲuman sɔrɔ.

An k'an hakili to fɛnw na minnu nafa ka bon kosɛbɛ (Take-Home Message) .

O bɛ ɲɛ, o la sa, an ye hakilina nafamabaw lajɛ kokura an ye kuma minnu kan:

• Noonan ka bana ye bana ye min bɛ sɔrɔ jamu fɛ .
• Nin taamasiɲɛw tɛ kelen ye , dɔw man jugu, dɔw ka jugu dɔɔni.
• Aw bɛ se ka fɛnw ye i n’a fɔ ɲɛda cogoya kɛrɛnkɛrɛnnenw, u janya surunya, ani dusukunnabana.
• Hali ni fura dafalen tɛ yen, furakɛli nafama dɔw bɛ yen minnu bɛ se ka bana taamasiɲɛw kunbɛn .
• a nafa ka bon kosɛbɛ ka bana in sɛgɛsɛgɛ ani ka furakɛli daminɛ joona .
• Dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw ka kulu dɔ bɛna aw den dɛmɛ.
• Noonan Syndrome bɛ denmisɛn caman na , olu bɛ ɲɛnamaya kɛ nisɔndiya la, u bɛ baara kɛ .

O la, ni nin taamasiɲɛ ninnu bɛ aw den na, aw kana siran, aw bɛ taa dɔgɔtɔrɔso la joona ani ka laadilikanw sɔrɔ. I mago bɛ dɛmɛ min na, u bɛna o bɛɛ di i ma.

` Noonan ka banaw, jamu banaw, dusukunnabana bangenenw, yiriwali latɛmɛni, ɲɛda cogoya, denmisɛnw ka kɛnɛya, jamu sɛgɛsɛgɛli