Yu gɛt spat na yu skin ɔ yu gɛt lumps na yu bɔdi? Dis kin bi Nyurofibromatosis Tayp 1 (NF1)!

Tide wi go tɔk bɔt wan kɔndishɔn wae kin kɔmplikt smɔl, bɔt kin impɔtant to bɔrku pipul. Wi kin kɔl am Nyurofibromatosis Tayp 1, ɔ (NF1) fɔ shɔt tɛm. Sɔntɛm yu nɔ yɛri bɔt dis nem. Bɔt lɛ wi tɔk bɔt am simpul wan, di we we yu go ɔndastand.

Wetin na Nyurofibromatosis Tayp 1 (NF1)?

Fɔ tɔk am simpul wan, (NF1) na wan sik we de afɛkt yu skin ɛn yu nervɔs sistɛm (dat na yu bren , yu spɛnal kɔd , ɛn ɔl di ɔda nɛv dɛm). Dis na wan sik we kin mek smɔl chenj na di we aw sɔm sɛl dɛn na wi bɔdi kin gro. dis kin mek di tכmכro dεm we nכ de kεnsar (benign) fכm. Dɛn kɔl dɛn tin ya nyurofibromas . Dɛn tumbu ya kin mek pan di nɛv dɛn na yu bren, yu spɛnal kɔd, ɛn yu skin. Wan pan di men sayn dɛm wae dɛn kin si pan pipul dɛm wae gɛt (NF1) na wae dɛn gɛt bɔrku café au lait spat na dɛn skin. Dis sik kin afɛkt di yay ɛn bon dɛm bak. Sɔntɛnde, dɔktɔ dɛn kin kɔl am bak di sik we dɛn kɔl Von Recklinghausen, we yu go dɔn yɛri.

Aw kכmכn na Nyurofibromatosis Tayp 1 (NF1)?

Dis na di kayn nyurofibromatosis we kכmכn pas כl. infakt, 96% pan ɔl di nyurofibromatosis pasɛnt dɛn gɛt NF1. Ɔlsay na di wɔl, dɛn se na lɛk wan pan ɛvri 3,000 pikin dɛn we dɛn kin bɔn ɛvri ia gɛt NF1.

Wetin na di sayn dɛm fɔ NF1?

di simptom dεm fכ (NF1) de mεntal kכz fכ di nεv kכmpreshכn. Si if dɛn sayn ya kin tan lɛk se yu sabi:

• I pas siks café au lait spat dɛn: Dɛn wan ya kin tan lɛk flat, layt brawn to dak brawn spat dɛn na di skin, we fiba di mak dɛn we dɛn bɔn am .
• Tu ɔ mɔ nyurofibroma dɛn ɔnda di skin: Dɛn tɔŋ ya kin kam ɛnisay na di bɔdi. Dɛn kin smɔl lɛk pis ɔ big pas dat. Dɛn kin saf we yu tɔch dɛn ɔ dɛn kin at smɔl. Bɔku tɛm, di skin we de rawnd dɛn tumbu ya kin dak pas yu nɔmal skin kɔlɔ.
• i tan lεk sכm sכm spat dεm (freckles) na di armpit, groin, εn sכmtεm dεn de כnda di brεst.
• di fכmeshכn fכ sכm sכm sכm sכm sכm sכm sכm dεm (Lisch nodules ) na di ayris כ di tכmכro dεm na di optik nεv (optic glioma) εn dat mek i nכ de si fayn.
• Abnɔmal tin dɛn we kin apin we di bon dɛn de gro:Fɔ ɛgzampul, tin dɛn kin de lɛk skɔliosis ɔ bow leg bon, ed we big pas aw i fɔ bi (macrocephaly), ɛn shɔt ayt.
• Atɛnshɔn-dɛfisit/ haypa aktiviti disɔda ( ADHD ) .
• Pen na di say dεm we di tכmכro dεm dכn fכm, i at fכ muv rawnd, εn i at fכ wok na di כgan dεm we rilevεnt.

Dɛn sik ya kin rili smɔl fɔ sɔm pipul dɛm, ɛn kin afɛkt ɔda pipul dɛm bad bad wan. Dɔn bak, nɔto ɔl dɛn sayn ya kin de frɔm we dɛn bɔn am. Dɛn kin apia difrɛn tɛm dɛn na layf. So, di we aw i de afɛkt ɛnibɔdi difrɛn.

Wetin kin mek pɔsin gɛt Nyurofibromatosis Tayp 1 (NF1)?

di men tin we de mek NF1 de chenj na wan pan wi jin dεm we dεn kכl mכtεshכn. Dɛn kɔl dis jin di Nyurofibromin 1 jin. dis Nyurofibromin 1 jin de tεl wi bכdi fכ mek wan protin we dεn kכl nyurofibromin. dis protin rili imכtant biכs i de kכntro כl di tεm we di sεl dεm de sheb εn כl di kכpi dεm we dεn mek. fכ bi prεsis, dis na protin we de mek tכmכro nכ fכm (tumor suppressor) .

so, we di bכdi nכ gεt di rayt instrכkshכn fכ mek dis nyurofibromin protin, sכm sεl dεm nכ de sheb fayn fayn wan εn de rεplik. Bifo dat, dɛn kin mek mɔ kɔpi dɛn pas wetin dɛn nid. Na da tɛm de tumor dɛn kin fɔm. Tכmכro na wan dens mas fכ tisu we bכku nכmba כf abnכmal sεl dεm de fכm.

Yu kin gɛt dis jin muteshɔn frɔm wan pan yu mama ɛn papa. dis dεn kכl am כtosom dכminant patεn fכ inhεrit . Bɔt yu kin gɛt dis jin muteshon ilɛksɛf nɔbɔdi nɔ gɛt dis sik na yu famili. Na lɛk af pan pipul dɛm wae gɛt NF1 kin gɛt am fɔ dɛnsɛf. dis min se di jin mכtεshכn kin apin bay chans εn i nכ kin gεt am frכm εnibodi.

Wetin na di poshubul komplikashכn dεm fכ Nyurofibromatosis Tayp 1 (NF1)?

(NF1) kin mek sɔm kɔmplikɛshɔn dɛn. Na sɔm pan dɛn:

• Sɔntɛm yu nɔ go ebul fɔ si fayn igen.
• Frakshכn כ abnכmaliti dεm na di bon dεm we de divεlכp (dysplasia) kin apin.
• Di nerv dɛn kin pwɛl.
• Ay blɔd prɛshɔn (haypa blɔd prɛshɔn) kin apin.
• Ivin afta dɛn dɔn trit am ɛn pul am, di tumbu kin kam bak.
• Di we aw pipul dɛn kin rɛspɛkt dɛnsɛf kin go dɔŋ.

di mכst imכtant, sכm pan di tכmכro dεm we de divεlכp na NF1 na kεnsar.I pɔsibul fɔ mek i bi prɔblɛm. So, i rili impɔtant fɔ tek tɛm wit dis.

Aw dɛn kin no NF1?

Dɔktɔ go chɛk yu ɛn rɔn di tɛst dɛn we yu nid fɔ no if yu gɛt NF1. Fɔs, i go du ɛgzam fɔ yu bɔdi, aks am bɔt di sik dɛn we yu gɛt, ɛn no aw dɛn kin afɛkt yu.

Apat frɔm dat, yu kin du tɛst dɛn lɛk dis bak:

• Imej tɛst: Fɔ ɛgzampul, MRI, X-ray, ɔ CT skan.
• Test fɔ di jenɛtiks.
• Wan ay ɛgzam.

Bɔku pipul dɛn kin gɛt NF1 we ​​dɛn big. Dis na bikɔs di sayn dɛm nɔr kin apin wan tɛm, bɔt dɛn kin kam smɔl smɔl as tɛm de go. Fɔ ɛgzampul, yu kin gɛt café au lait spat we yu bɔn yu, ɔ dɛn kin apia insay di fɔs sɔm ia. כltu, i kin tek 3-5 ia fכ fכm fכ fכm fכ fכm na di armpit εn groin. Nyurofibroma na wan kayn tɔŋ we dɛn kin si mɔ we pɔsin big. Bɔku tɛm, pipul dɛn kin go to dɔktɔ fɔ mek dɛn chenj di we aw dɛn de si.

Aw dɛn kin trit Nyurofibromatosis Tayp 1 (NF1)?

Naw, no mɛrɛsin nɔ de fɔ di sik (NF1). Bɔt, dɔktɔ kin ɛp yu fɔ kɔntrol di sayn dɛn we yu gɛt. Di tritmɛnt we dɛn kin pik kin difrɛn difrɛn wan bay aw yu sik dɛn kin afɛkt yu. Na sɔm pan di tritmɛnt dɛn we de:

• Ɔpreshɔn fɔ pul di tumbu.
• Kimotɛrapi na tritmɛnt fɔ di tumbu dɛn we dɔn tɔn to kansa.
• Tin dεm lεk כpεrayshכn כ bres fכ bon dεm we nכ de gro.
• Mεdikeshכn dεm fכ kכntrכl tכmכro growth: Fכ egzampl, wan mεdikal we dεn kכl selumetinib.
• Mɛrɛsin fɔ kɔntrol ɔda sayn dɛm: Fɔ ɛgzampul, mɛrɛsin fɔ ADHD.

If yu gɛt NF1, i impɔtant fɔ go to dɔktɔ wan tɛm insay di ia fɔ mek dɛn chɛk yu kɔmplit wan. Yu fɔ gɛt ɔftalmɔlɔjik ɛgzam bak ɛvri ia. Apat frɔm dat, i rili impɔtant fɔ mek dɛn chɛk yu blɔd prɛshɔn wan tɛm insay di ia fɔ chɛk fɔ si if i gɛt prɔblɛm dɛn.

Yu nid fɔ tink bak bɔt mental wɛlbɔdi?

Yɛs, fɔ tru. Na kɔmɔn tin fɔ lɛ dis sik afɛkt yu pan aw yu de fil. Bɔku pipul dɛn kin fil fri we dɛn tɔk to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs . Ɔ, fɔ jɔyn sɔpɔt grup usay pipul dɛn we gɛt di sem kayn sik kin gɛda kin ɛp bak. Bikɔs sɔntɛnde, we dɛn tin ya we de gro ɛn spat dɛn ya de apia na say dɛn we ɔda pipul dɛn kin si, yu kin wɔri bɔt aw yu luk. So, i rili fayn fɔ tɔk to dɔktɔ ɔ pɔsin we de gi advays bɔt mental wɛlbɔdi biznɛs bɔt tin dɛn lɛk dis.

Ɛni bad tin de we di tritmɛnt kin du?

Yɛs, di sayd ɛfɛkt dɛn kin difrɛn difrɛn wan bay di kayn tritmɛnt. Yu dɔktɔ go ɛksplen dɛn tin ya to yu bifo yu bigin fɔ trit yu. Fɔ ɛgzampul, if dɛn du yu ɔpreshɔn, yu kin gɛt blɔd ɛn yu kin gɛt infɛkshɔn. If yu gɛt kemotɛrapi, yu ia kin lɔs ɛn taya.

Yu tink se dɛn kin ebul fɔ protɛkt Nyurofibromatosis Tayp 1 (NF1)?

Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt NF1. Bɔt if yu plan fɔ gɛt famili, dat min se if yu op fɔ bɔn pikin, yu kin tɔk to dɔktɔ ɛn aks bɔt aw fɔ advays yu bɔt yu jɛnɛtiks . Dis kin mek yu ɔndastand mɔ bɔt di chans fɔ mek yu gɛt pikin we gɛt jɛnɛtik sik lɛk NF1.

Wetin na di layf we pɔsin we gɛt NF1 kin liv?

Bɔrku tɛm, if yu simptom nɔr siriɔs, NF1 nɔr kin afɛkt yu layf ɛkspɛkteshɔn dairekt wan. Bɔku pipul dɛn kin liv nɔmal layf span. Bɔt if kɔmplikeshɔn dɛn apin (pan ɔl we dɛn nɔ kin bɔku), mɔ if bɔku bɔku tumbu dɛn de we dɛn nɔ go ebul fɔ pul am sef wan bay ɔpreshɔn, ɔ if di tumbu dɛn tɔn kansa, i kin afɛkt di we aw yu go liv yu layf (prognosis).

Wetin fɔ ɛkspɛkt if yu gɛt diagnosis fɔ NF1?

(NF1) na wan kכndyushכn wae de afekt pipul dεm difrεn we. Sɔm pipul dɛn nɔr kin gɛt sɔm kayn sik wae de kam pan pɔrsin wae de ambɔg dɛn ɛvride. Ɔda pipul dɛn kin gɛt prɔblɛm wit dɛn yay ɔ dɛn kin fil pen we kin mek i nɔ izi fɔ muv.

Bɔrku pipul dɛn kin si am fayn fɔ tɔk to pɔrsin wae sabi bɔt mɛntɛl hεlth wae de sik wae dɛn de fil de afɛkt dɛn maynd wɛl bɔdi ɛn di we aw dɛn de tink bɔt dɛn bɔdi. Bikɔs sɔntɛnde ɔda pipul dɛn kin si dɛn tin ya we de gro lɛk mɔl ɛn mak dɛn we yu bɔn, yu kin shem ɔ shem fɔ di we aw yu luk. Dɔktɔ kin ɛp yu fɔ kɔntrol dɛn kayn filin ya ɛn ɛni sayn we de mek yu nɔ fil fayn.

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt sayn dɛm fɔ NF1, mɔ pas siks café au lait spat dɛm, chenj na yu skin we yu nɔ ɛksplen, ɔ yu si chenj, go to dɔktɔ wantɛm wantɛm. If yu dɔn ɔlrɛdi gɛt tritmɛnt fɔ NF1, tɛl yu dɔktɔ if di sayn dɛm, lɛk pen, de bɔku ɔr de wɔs.

Apat frɔm dat, i impɔtant fɔ mek dɛn chɛk pɔsin wan tɛm insay di ia . Dis kin ɛp fɔ mek shɔ se dɛn pat dɛn ya na yu bɔdi we NF1 kin afɛkt de wok fayn:

• Yay
• Nɛvɔ sistɛm
• Kanda
• Di sistɛm we de na di at ɛn di blɔd
• Spine

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu go si dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin a fɔ ɛkspɛkt wit diagnosis fɔ (NF1)?
• Yu tink se di pikin dɛn we a go gɛt tumara bambay go gɛt dis sik?
• Us tritmɛnt yu kin advays? Ɛni bad bad tin dɛn de we kin apin to am?
• Yu tink se di tumbu dɛn kin gro bak afta dɛn dɔn pul am?
• Aw ɔltɛm a nid fɔ kam bak fɔ fala-ap apɔntinmɛnt?

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Nyurofibromatosis Tayp 1 (NF1) na di kayn nyurofibromatosis we kכmכn pas ɔl. I kin afɛkt bɔku pat dɛn na yu bɔdi, mɔ yu skin ɛn yu nervɔs sistɛm. Yu sik kin afɛkt yu ɛvride layf ɛn aw yu de fil bɔt yu bɔdi. Bɔt nɔ wɔri. Yu mɛdikal tim kin ɛp yu fɔ fɛn di bɛst tritmɛnt fɔ yu sik. If yu sik de afɛkt aw yu de fil bɔt yusɛf, yu go si se i go fayn fɔ tɔk to pɔsin we de advays yu bɔt yu maynd . If yu dɔn no se yu gɛt NF1 ɛn yu de plan fɔ mek yu gɛt famili, nɔ fɔgɛt fɔ tɔk to yu dɔktɔ bɔt aw fɔ gi yu jenɛtik kɔyl.

Nɔto yu wan, bɔku pipul dɛn de fɔ ɛp yu pan dis waka.