So wo ba no wɔ saa su titiriw yi? Momma yɛnka Williams Syndrome ho asɛm

So wo ba kumaa no pɛ fekubɔ kɛse? So ɔserew na ɔne obiara a obehyia no kasa, na ɔyɛ adamfofa su ma ɛyɛ nwonwa? Ebia woahyɛ no nsow sɛ n’anim yɛ soronko kakra, na ɛsono mmofra afoforo. Sɛ, nea ɛka saa nneɛma yi ho no, nkɔso a ɛkyɛ kakra ne komayare nso wɔ abofra no mu a, na yɛreka awosu mu tebea bi a ɛntaa nsi a ebetumi de aba no ho asɛm. Mma nnsuro bere a woakenkan eyi awie no. Saa nsɛm yi bɛboa wo ma woanya eyi ho ntease pa.

Dɛn ne Williams Syndrome?

Sɛ yɛbɛka no tiawa a, Williams Syndrome (WS) yɛ awosu mu yare a ɛntaa nsi . Nsakrae ketewaa bi a ɛba yɛn awosu mu nkwaadɔm mu na ɛde ba. Abofra a ɔwɔ saa tebea yi betumi anya ɔhaw wɔ nipadua no afã horow ho, titiriw akwaa te sɛ mogya ntini, koma ne asaabo. Wɔsan nso wɔ anim su soronko, adesua mu dɛmdi ne nipasu su soronko.

Nsonsonoe a ɛda Down Syndrome ne Williams Syndrome ntam

N’abien nyinaa yɛ awosu mu tebea horow. N’abien nyinaa betumi de ɔhaw ahorow aba koma ne ntini ahorow no mu. Nanso ɛsono nea ɛde abien no ba. Down syndrome fi biribi a wɔfrɛ no chromosome a ɛwɔ yɛn nipadua mu nkwammoaa mu no bi a ɛboro so. Williams yare no fi nkwaboaa bi fã ketewaa bi a ɛyera .

Dɛn na ɛde Williams yare no ba?

Fa yɛn nipadua no sɛ nkyerɛkyerɛ nhoma kɛse. Wɔfrɛ nhoma yi nkratafa no chromosomes. Nkratafa a ɛte saa (23 abien abien) na ɛwɔ yɛn nkwammoaa no mu biara mu 46. Ɛyɛ nhoma yi kratafa a ɛto so ason (Chromosome 7) na wɔakyerɛw akwankyerɛ a yɛde besi yɛn nipadua no fã titiriw bi.

Wɔwo akokoaa a ɔwɔ Williams syndrome a wonni kratafa a ɛto so ason yi fã ketewaa bi a awosu mu nkwaadɔm bɛyɛ 25 anaa 27 wom. Ɛte sɛ nea wɔatetew kratafa ketewaa bi a ɛwɔ akwankyerɛ nhoma bi mu. Nsɛnkyerɛnne a abofra no da no adi no gyina saa awosu mu nkwaadɔm a ayera no mu nea ɛwɔ hɔ so. Sɛ nhwɛso no, sɛ awosu mu abɔde a wɔfrɛ no `ELN` no nni hɔ a, ebetumi de ɔhaw aba koma ne mogya ntini mu.

Eyi nyɛ ɛna anaa agya no mfomso. Mpɛn pii no, nsakrae a ɛba kwa wɔ mmadwoa anaa nkesua nyin mu na ɛde ba. Ɛne sɛ, ɛyɛ nea ɛba kwa koraa . Ɛntaa mma koraa sɛ sɛ awofo no mu biako nya saa tebea yi a, abofra no nso betumi anya bi.

Eyi abu so dɛn?

Eyi yɛ tebea a ɛntaa nsi koraa. Ɛtaa ka nnipa bɛyɛ 7,500 kosi 10,000 biara mu biako.

Dɛn ne sɛnkyerɛnne ahorow yi?

Ɛnyɛ mmofra a wɔwɔ Williams syndrome nyinaa na wɔyɛ pɛ. Ebia ebinom benya yare no ho sɛnkyerɛnne kakraa bi, na ebinom nso betumi anya pii. Na sɛnea emu yɛ den no betumi ayɛ soronko. Momma yɛnhwɛ sɛnkyerɛnne atitiriw no.

Nsonsonoe a ɛwɔ adesua mu

Mmofra a wɔwɔ Williams syndrome no mu bɛyɛ 75% betumi anya adwene mu dɛmdi a emu nyɛ den. Eyi betumi ama adesua mu ayɛ den. Ɔkwan foforo so no, mmofra yi wɔ nkae a ɛyɛ nwonwa . Ebia wɔwɔ kasa ne kasa ho nimdeɛ nso, akenkan ho nimdeɛ, ne titiriw no nnwom ho nimdeɛ kɛse .

Ɔkwan bɛn so na wohu yare no?

Wo duruyɛfo no bedi kan ahwɛ wo ba no mu, abisa n’abusua aduruyɛ ho abakɔsɛm, na wahwɛ n’anim nneɛma titiriw biara.

Sɛ wosusuw sɛ Williams yare no a, wobetumi ahyɛ sɛ wɔnyɛ mogya mu nhwehwɛmu de si so dua. Akwan titiriw abien na ɛwɔ hɔ a wɔfa so yɛ eyi:

1. FISH sɔhwɛ (Fluorescence in situ hybridization): Saa sɔhwɛ yi hwehwɛ awosu mu abɔde a ɛyera `ELN` wɔ chromosome 7. Nnipa dodow no ara a wɔwɔ Williams syndrome nni saa awosu mu abɔde yi.

2. Chromosome microarray: Eyi yɛ nnɛyi sɔhwɛ a wɔtaa de di dwuma. Ɛhwɛ akokoaa no chromosomes nyinaa na ɛhwɛ sɛ DNA no fã bi nni hɔ anaa. Ebetumi nso akyerɛ awosu mu nkwaadɔm a enni hɔ, na ama oduruyɛfo no ahu sɛnkyerɛnne ahorow a ebia akokoaa no wɔ no yiye.

Nea ɛka ho no, wobetumi ahyɛ sɛ wɔnyɛ nhwehwɛmu foforo na ama wɔahu abofra no nipadua no mu tebea.

• EKG anaa Ultrasound scan nhwehwɛmu a wɔyɛ de hwehwɛ koma mu haw ahorow.
• Ultrasound scan de hwɛ sɛnea asaabo ne akisikuru no te.
• Calcium dodow a ɛwɔ mogya anaa nsu mu a wɔbɛhwɛ.

Ɔkwan bɛn so na wɔsa?

Sɛnea yɛadi kan aka no, wontumi nsa tebea yi koraa. Nanso, ayaresa betumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow no ho dwuma na aboa abofra no ma watra ase pa. Eyi hwehwɛ sɛ animdefo ahorow boa.

• Koma ho Oduruyɛfo: Wɔ komayare ho.
• Endocrinologist: Wɔ ɔhaw ahorow a ɛfa hormone ne calcium dodow ho.
• Aso, Hwene ne Menewa Ho Ɔbenfo (ENT Oprehyɛn): Wɔ aso mu yare ho.
• Apɔw-mu-teɛteɛ ho ɔbenfo: Sɛnea ɛbɛyɛ a nipadua no keka ne ho na ntini ahoɔden tu mpɔn.
• Ɔkasa ne kasa ho ɔyaresafo: Sɛ ɔbɛma kasa ne kasa ho nimdeɛ atu mpɔn.

Ebia ayaresa no bi ne aduan a ɛma mogya mu calcium dodow so tew, mogya mmoroso nnuru, nkyerɛkyerɛ titiriw nhyehyɛe ahorow, ne sɛ ɛho hia a, ntini anaa koma mu oprehyɛn. Wo duruyɛfo na ɔkyerɛ eyinom nyinaa .

Dɛn na wubetumi ayɛ sɛ ɔwofo?

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa bere a wuhu sɛ wo ba wɔ Williams syndrome no. Nanso saa nokwasɛm ahorow yi bɛboa wo.

• Ma wo ba no ɔdɔ pii: ma wɔnhwehwɛ wiase no mu sɛnea ne tumi ne ne mmirikatu te.
• Kɔ so ne nnuruyɛfo nni nkitaho daa: Kɔ aduruyɛ mu nhwehwɛmu daa de hwɛ sɛnea wo ba no akwahosan te.
• Hwehwɛ mmoa foforo wɔ sukuu mu: Wo ne sukuu no akyerɛkyerɛfo ne sukuu panyin nkasa mfa nhyehyɛe titiriw a ehia ma wo ba no nhomasua ho.
• Nya nsɛm: Sua tebea yi ho ade sɛnea wubetumi sɛnea ɛbɛyɛ a wubetumi akamfo wo ba no yiye.
• Wo ne afoforo nni nkitaho: Wo ne awofo afoforo a wɔwɔ mma te sɛ eyi nkasa. Bisa wo duruyɛfo no akuw a wɔboa no ho asɛm.
• Susuw wo ho nso ho hwɛ: Hwɛ w’adwene ne wo nipadua akwahosan so bere a worehwɛ wo ba no. Sɛ wote nka sɛ woabrɛ a, ntwentwɛn wo nan ase sɛ wobɛsrɛ mmoa.