Sɔntɛnde, yu kin fil se yu gyal pikin shɔt pas ɔda pikin dɛn? Pan ɔl we ɔda padi dɛn we in ej dɔn rich di tɛm we dɛn de bɔn, yu gyal pikin stil nɔ de sho dɛn sayn dɛn de? I rili nɔmal fɔ mek mama ɔ papa fil smɔl fɔ fred ɛn wɔri bɔt tin dɛn lɛk dis. Bɔku tɛm, dɛn tin ya kin bi nɔmal tin. כltu, sכmtεm di rizin fכ dis kin bi wan spεshal jεnεtik kכndyushכn we dεn kכl ‘Turner Syndrome’ we de afekt gyal pikin dεm nכmכ. Wi nɔ nid fɔ fred we wi yɛri dis nem. Tide, wi go tɔk rili simpul ɛn klia wan bɔt wetin dis na, wetin mek i kin apin, ɛn wetin dɛn kin du bɔt am.
Fɔ tɔk am simpul wan, wetin na Turner Syndrome?
Turner syndrome na wan sik we dɛn kin bɔn wit in jɛnɛtiks we kin jɔs afɛkt gyal pikin dɛn. I nɔ kin pas pɔsin.
Lɛ wi go bak to bayoloji fɔ ɔndastand dis. Fɔ tɔk am simpul wan, ɛvri sɛl na wi bɔdi gɛt ‘kromozom’ we de sho wi jɛnɛtik infɔmeshɔn (wi ayt, kɔlɔ, aw wi de luk, ɛn ɔda tin dɛn). nכmal wan, uman sεl gεt tu sεks kromozom dεm we dεn kכl X (XX). Wan man sɛl gɛt wan X ɛn wan Y (XY).
Turner syndrome na wan kכndyushכn we uman pikin de mis כl כ pat pan wan pan di tu X kromozom dεm. dis na random ivent we de apin we di pikin de bכn כ di tεm we di εmbrayo de stej. I impɔtant fɔ mɛmba se dis nɔto bikɔs ɔf ɛni fɔlt we di mama ɔ papa gɛt .
Dis sik kin afɛkt ɛni pikin difrɛn we, bɔt tu men tin dɛn de we kin apin:
1. Fɔ shɔt pas ɔda pipul dɛn (shɔt ayt) .
2. di ovaria dεm we nכ de wok sכmtεm , we min se di puberty εn di ebul fכ bכn pikin dεm de afekt.
Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw wi no dis?
Sɔm pikin dɛn kin sho dɛn sayn ya we dɛn bɔn dɛn. Fɔ ɔda pipul dɛn, di sayn dɛn kin apin smɔl smɔl we dɛn smɔl. Sɔntɛnde, dɛn nɔ kin tink bɔt dis te i big. So, e fayn fɔ no bɔt dɛn kayn sik ya.
Sɔntɛnde, di tɛst dɛn we dɛn kin du bifo dɛn bɔn pikin, lɛk we dɛn kin du ɔltra saund skan we uman gɛt bɛlɛ, kin gi sɔntin fɔ no wetin go apin. Fɔ ɛgzampul, if di pikin tan lɛk se wata de biɛn in nɛk, ɔ if prɔblɛm de wit in at ɔ in kidni, dɔktɔ dɛn kin sɔprayz.
| Tɛm we di sayn dɛn kin bigin | Kɔmɔn tin dɛn we pɔsin kin si |
|---|---|
| We dɛn bɔn am ɔ jɔs afta dat |
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| We i bin smɔl, we i yɔŋ, ɛn we i big |
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I impɔtant fɔ no se nɔto ɔl pikin dɛn we gɛt Turner syndrome go gɛt ɔl dɛn sik ya. Sɔm pikin dɛn nɔ kin gɛt di sik atɔl, ɛn dɛn nɔ kin no bɔt dis sik te dɛn big.
Yu tink se men kayn sik de we dɛn kɔl Turner syndrome?
Yes, tu men kayn dεm de dipכnt pan aw dis kכndyushכn kin apun.
Monosomy X, we dɛn kɔl X
Dis na di kayn we we pipul dɛn kin gɛt mɔ. dis na di say we wan X kromozom de mis kכmplit wan pan εvri sεl na di pikin in bכdi. dis kin kכz fכ wan random defεkt na di mama in eg כ di papa in sεl dεm we i de bכn. Bɔrku tɛm, di sayn dɛm kin sho mɔr pan dis kayn.
Mosayk Tɛnara Sindrom we dɛn kɔl Mosaic Turner
as di wod ‘mosaic’ sho, wetin de apin ya na dat pat כ כl di X kromozom de mis insay כnli sכm pan di sεl dεm na di pikin in bכdi.כda sεl dεm gεt nכmal (XX) kromozom dεm. Tink bɔt wi bɔdi lɛk wɔl we dɛn mek wit smɔl smɔl brik (sɛl dɛn). Insay mosayk kɔndishɔn, na sɔm pan di brik dɛn nɔmɔ gɛt dis difrɛns. Di ɔda wan dɛn nɔmal. dis na random mistek we de apin we di sεl dεm de sheb di tεm we di εmbrayo de stej. Dis kin mek yu nɔr gɛt bɔku sayn dɛm, ɛn i kin at fɔ no smɔl bak.
Us ɔda wɛl bɔdi prɔblɛm (kɔmplikɛshɔn) kin apin bikɔs ɔf dis sik?
Pikin dɛn we gɛt Turner syndrome kin gɛt sɔm kayn wɛlbɔdi prɔblɛm, so i impɔtant fɔ mek dɛn chɛk dɛn ɔltɛm na dɔktɔ.
| Prɔblɛm sistɛm | Sɔm prɔblɛm dɛn we kin apin |
|---|---|
| At ɛn blɔd vesel dɛn (Cardiovascular) . | Na lɛk 50% pan di pikin dɛn we gɛt Turner syndrome kin gɛt at sik we dɛn bɔn wit. Prɔblɛm dɛn we kin apin to di aorta, we na di men blɔd vesel we kin kɛr blɔd go na di bɔdi, kin mɔs bi. Ay blɔd prɛshɔn kin apin bak. |
| Skel sistɛm we de na di skel | Risk de fɔ gɛt tin dɛm lɛk ɔstioporosis, fraktrɛshɔn, ɛn skɔliosis. |
| Imyun sistεm (Autoimmune) . | Risk de fɔ mek pɔsin gɛt ɔtoimyun sik dɛn, we di bɔdi in imyun sistɛm kin atak in yon sɛl dɛn. εgzampl: tayroyd prכblεm (Hashimoto in sik), siliak sik, inflammatory bowel kondishכn (IBD). |
| Fɔ yɛri ɛn fɔ si tin | Yu nɔ de yɛri fayn kin apin bikɔs ɔf di midul ia infɛkshɔn ɔltɛm ɔ di nerv dɛn we de pwɛl. Prɔblɛm fɔ si, lɛk we yu yay krɔs, kin apin bak. |
| Kidni dɛn | Prɔblɛm wit di strɔkchɔ fɔ di kidni dɛn kin apin, we kin mek yu gɛt urinary tract infection (UTI) bɔku tɛm. |
| Disabiliti fɔ lan | Pan ɔl we bɔku tɛm, sɛns kin fayn, sɔm prɔblɛm dɛn kin de fɔ lan, mɔ pan matematiks, ɔriɛnteshɔn, ɛn fɔ tink bɔt ples. |
| Mental wɛlbɔdi biznɛs | Fɔ liv wit chenj na yu bɔdi ɛn wɛl bɔdi prɔblɛm kin mek yu nɔr gɛt bɛtɛ ɔnɔ fɔ yusɛf, wɔri, ɛn pwɛl hat. |
Aw dɔktɔ kin no bɔt dis?
Dɔktɔ kin no dis sik bifo dɛn bɔn di pikin ɔ afta dɛn bɔn am.
Bifo dɛn bɔn am:
- NIPT (Noninvasive prenatal testing): Dis na we fɔ tɛst di pikin in jɛnɛtik infɔmeshɔn bay we dɛn de yuz blɔd sɛmpul we dɛn tek frɔm di mama we gɛt bɛlɛ.
- כltra saund skan: dεn kin sכspεkt dis if di skan sho sayn dεm fכ prכblεm wit di pikin in at, in kidni dεm, כ wata we de kכmכt biεn in nεk.
- amniocentesis: dεn kin kכnfכm dis kכndyushכn 100% bay we dεn tek sεmpl fכ di amniotic fluid we de rawnd di pikin εn du jεnεtik tεst (karyotype analysis) pan di pikin in sεl dεm.
Afta dɛn bɔn am:
afta dεn bכn di pikin, if di dכkta saspek sכmtin we nכ de apin bay di pikin in simptom dεm, dεn go oda fכ blכd tεst we dεn kכl ‘karyotyping.’ Dis min se dɛn fɔ tek blɔd sɛmpul ɛn chɛk di kromozom dɛn ɔnda maykroskɔp fɔ no if wan X kromozom nɔ de, ɔl ɔ sɔm pat pan am.
Wetin na di tritmɛnt dɛn? Yu tink se dɛn go ebul fɔ mɛn am kpatakpata?
Fɔs, bikɔs Turner syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, dɛn nɔ kin ebul fɔ mɛn am ɔltogɛda.
Bɔt nɔ fred! Bɔku fayn fayn tritmɛnt dɛn de tide we go ɛp yu fɔ kɔntrol di sik dɛn, fɔ mek yu nɔ gɛt prɔblɛm dɛn we kin apin to yu, ɛn liv fayn layf, we go mek yu gɛt wɛlbɔdi, ɛn we go mek yu gladi.
Di tritmɛnt kin pe atɛnshɔn mɔ pan ɔmon dɛn.
- Human growth hormone therapy: Dis tritmɛnt rili impɔtant fɔ mek di pikin in ayt go ɔp. Dis na ɔmon injɛkshɔn we dɛn kin gi ɛvride. If dɛn bigin dis tritmɛnt we i smɔl, dat min se, jɔs lɛk aw dɛn notis se di pikin de gro sloslo, i go ebul fɔ gɛt gud ayt.
- εstrojen tεrapi: bכku gyal pikin dεm we gεt Turner sεndrכm nכ de prodyuz εstrojen nכmal wan, so dεn kin gi dεm εstrojen frכm כdasay arawnd di puberty (arawnd 11-12 ia ej). dis na di tin we de mek di sayn dεm we de sho se di pikin de bכn, lεk di bכdi de divεlכp εn di biginin fכ mεnstral. I impɔtant bak fɔ mek yu bon dɛn strɔng ɛn fɔ mek yu at gɛt wɛlbɔdi.
- Prɔjɛstin tɛrapi: Afta sɔm ia we dɛn dɔn tek ɛstrojen tɛrapi, dɛn kin gi wan ɔmon bak we dɛn kɔl projɛstin fɔ mek di mɔnt kɔntinyu fɔ de na in bɔdi.
Apat frɔm dɛn ɔmon tritmɛnt ya, i impɔtant fɔ go to tritmɛnt ɛn chɛk-ap ɔltɛm frɔm spɛshal pipul dɛn we gɛt fɔ du wit di prɔblɛm dɛn we wi bin dɔn tɔk bɔt (lɛk at sik, kidni prɔblɛm, ɛn we pɔsin nɔ de yɛri fayn).
Ustɛm a fɔ tɔk to di dɔktɔ bɔt mi pikin?
I impɔtant pas ɔl fɔ no di sik ɛn bigin fɔ trit am kwik kwik wan.
Kip yu yay pan yu pikin in growth ɛn di maylston dɛn. If yu tink se yu gyal pikin shɔt pas ɔda pikin dɛn we in ej, ɔ if i de sho ɛni wan pan di sayn dɛn we wi dɔn tɔk bɔt na in bɔdi, nɔ de te fɔ tɔk to yu dɔktɔ we de mɛn pikin dɛn.
Tu ɔda impɔtant tin dɛn de we dɔktɔ dɛn kin se:
- Skrin fɔ disabiliti fɔ lan: I fayn fɔ pe atɛnshɔn to yu pikin in divɛlɔpmɛnt kwik kwik wan, sɔntɛm as ali as i ol 1-2 ia, ɛn chɛk fɔ si if i gɛt disabiliti fɔ lan. If ɛni wan de, yu kin tɔk bak to di ticha dɛn na skul ɛn gi di pikin di spɛshal sɔpɔt we i nid.
- Fɔ fɛn sɔpɔt fɔ mɛntɛl hεlth: I rili impɔtant fɔ aks fɔ ɛp frɔm mɛntɛl hεlth kɔlnɔ (pikin saikɔlɔjis) fɔ ɛp yu pikin fɔ bia wit de sɔshal prɔblɛm, nɔr de fil bɔt insɛf, ɛn wɔri wae kin kam wae i de liv wit dis sik.
Pan ɔl we di layf we pikin we gɛt Turner syndrome kin liv kin shɔt smɔl pas di wan we di jenɛral pipul dɛn kin liv, if dɛn de kia fɔ dɛn ɔltɛm, dɛn kin trit dɛn fayn fayn wan, ɛn dɛn kin ebul fɔ mɛn dɛn wɛlbɔdi prɔblɛm dɛn fayn fayn wan, dɛn kin liv dɛn layf we nɔmal ɛn gladi at.
Mɛsej we dɛn kin kɛr go na os
- Turner Syndrome na wan sik wae de kam wit jεnεtiks wae de afekt כnli gyal pikin dεm εn nכto di mama εn papa de kכz am.
- di tu men sayn dεm na we i de lכs in ayt εn we i de delay כ we i nכ de fכ bכn.
- I kin afɛkt di at, kidni, bon, ɛn ivin di maynd wɛlbɔdi. So, i rili impɔtant fɔ mek dɛn de chɛk yu dɔktɔ ɔltɛm.
- Pan ɔl we dɛn nɔ kin ebul fɔ mɛn dis sik ɔltogɛda, dɛn kin kɔntrol di sik dɛn fayn fayn wan wit ɔmon tɛrapi ɛn ɔda tritmɛnt dɛn.
- Fɔ no di sik kwik kwik wan rili impɔtant fɔ mek di tritmɛnt go bifo. If yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro, nɔ de te fɔ tɔk to yu dɔktɔ.
- If dɛn gɛt di rayt mɛrɛsin ɛn famili lɔv ɛn sɔpɔt, gyal pikin we gɛt Turner syndrome gɛt ɔl di chans fɔ liv fayn ɛn gladi layf.
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