Dɛn ne Tay-Sachs Yare? So yɛbɛka ho asɛm?

Sɛ wususuw wo ba kumaa no akwahosan ho a, ɛtɔ mmere bi a nneɛma pii ba w’adwenem, ɛnte saa? Nyarewa bi wɔ hɔ a sɛ wote ho asɛm a, ɛma wosuro kakra na ɛhaw wo. Tebea a ɛte saa no biako a ɛyɛ den kakra, nanso ɛho hia yiye sɛ yɛn nyinaa hu ne Tay-Sachs Yare . Eyi yɛ awosu mu tebea. Ɛnnɛ, yɛbɛka eyi ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase yiye so.

Dɛn ankasa ne Tay-Sachs Yare?

Sɛ yɛbɛka no tiawa a, Tay-Sachs yare no yɛ awosu mu tebea . Ɛma ntini mu nkwammoaa (neurons) a ɛwɔ wo ba amemene ne n’akyi berɛmo mu no sɛe na nkakrankakra ewu. Susuw ɔhaw ahorow a ebetumi aba sɛ saa ntini mu nkwammoaa a ɛde nkrasɛm twa yɛn nipadua ho hyia yi anyɛ adwuma yiye a ebetumi asɔre no ho hwɛ. Saa yare yi ho sɛnkyerɛnne te sɛ onyin a ɛyɛ mmerɛw ne aniwa ne aso a ɛyɛ mmerɛw no taa fi ase bere a abofra no adi bɛyɛ asram 6 no. Nea ɛyɛ awerɛhow ne sɛ, ɛyɛ yare a ɛkɔ so nkakrankakra. Eyi kyerɛ sɛ bere kɔ so no, yare no ho sɛnkyerɛnne no mu yɛ den. Nea ɛyɛ awerɛhow no, mmofra a wɔwɔ saa yare yi wuwu wɔ wɔn mmofraase. Mprempren wonni aduru biara . Nanso, ayaresa ahorow wɔ hɔ a ebetumi aboa wo ba no ma ne ho atɔ no na watra ase yiye.

So Tay-Sachs Yare ahorow bi wɔ hɔ?

Yiw, wobetumi akyekyɛ Tay-Sachs yare no mu akuwakuw atitiriw abiɛsa. Wɔkyekyɛ eyinom mu sɛnea bere a sɛnkyerɛnne ahorow no fi ase da adi te: 1. Classic infantile Tay-Sachs: Eyi ne ɔkwan a ɛtaa ba . Mmofra fi ase da sɛnkyerɛnne ahorow adi bere a wɔadi bɛyɛ asram 6 no. 2. Tay-Sachs mmofra: Eyi ho yɛ na koraa . Mmofra betumi ada yare no ho sɛnkyerɛnne adi bere a wɔadi mfe 5 kosi wɔn mmabunbere. 3. Tay-Sachs a efi ase akyiri yi: Eyi nso yɛ ɔkwan a ɛntaa nsi koraa . Nsɛnkyerɛnne no betumi afi ase wɔ mmerantebere ne mmabaabere awiei anaa mpanyin afe so. Ɛtɔ da bi a, yareɛ no ho sɛnkyerɛnne tumi da adi wɔ mfeɛ 30 akyi.Ebia saa su yi rennya asetena so nkɛntɛnsoɔ. Ade biako a ɛho hia ne sɛnea nyarewa yi fa mmusua mu. Sɛ nhwɛso no, sɛ abofra biako nya Tay-Sachs a ɛyɛ nkokoaa a, mmofra afoforo a wɔwɔ abusua no mu nni asiane mu sɛ wobenya Tay-Sachs a efi ase akyiri yi.

Tay-Sachs Yare no abu so dɛn?

Nhwehwɛmu ahorow kyerɛ sɛ, sɛ wɔkyekyem pɛpɛɛpɛ a, ebia nnipa 300 biara mu biako na ɔwɔ awosu mu nsakrae anaa nkwaadɔm mu nsakrae a ɛde Tay-Sachs yare ba no. Nanso, mmofra dodow a wɔwo wɔn a wɔwɔ Tay-Sachs yare no sua koraa ankasa. Enti, wobu no sɛ ɛyɛ yare a ɛntaa nsi . Nhumu, nhomasua, ne awosu mu nhwehwɛmu aboa ma yare yi ntrɛwmu so atew wɔ nnipa a wɔwɔ asiane mu no mu.

Dɛn ne Tay-Sachs Yare no ho sɛnkyerɛnne?

Tay-Sachs yare no ho sɛnkyerɛnne gu ahorow gyina mfe a abofra no adi so. Yare no kɔ so yɛ kɛse bere a abofra no nyin no. Nsɛnkyerɛnne titiriw biako a wohu wɔ mmofra mu ne sɛ wontumi nni nkɔso mu nsɛntitiriw ho dwuma anaasɛ wɔn werɛ fi ahokokwaw a wɔadi kan asua na wɔde adi dwuma.

Nsɛnkyerɛnne a Ɛfa Classic Infantile Tay-Sachs ho

Nsɛnkyerɛnne a wobetumi ahu wɔ mfiase (bɛyɛ asram 6):

• Ntini mu mmerɛwyɛ .
• Ɛyɛ den sɛ wobɛdan kɔn, wobɛtra ase, anaa wobɛkotow.
• Dede a ano yɛ den a ɛbɛma wo ho adwiriw wo ntɛm.

Bere a yare no kɔ so (ansa na afe biako reba) no, sɛnkyerɛnne ahorow te sɛ eyinom nso betumi ada adi:

• Ntini a ɛtwetwe a ɛnyɛ nea wɔpɛ, a ɛte sɛ nea ɛrewosow - yɛfrɛ eyinom myoclonic jerks.
• Sɛ obi nya akisikuru (akisikuru).
• Wɔsan frɛ aduan a ɛyɛ den sɛ wɔbɛmene no dysphagia.
• Aniwa a ɛyera .
• Aso a wɔhwere.
• Nnuruyɛfo hu sɛ aniwa no mu yɛ kɔkɔɔ te sɛ cherry bere a wɔreyɛ nhwehwɛmu no.
• Ɔhome mu nyarewa a wɔtaa nya .

Edu bere a abofra bi di bɛyɛ mfe 2 no, tebea no mu ayɛ den araa ma ebia abofra no rentumi nyɛ hwee . Eyi kyerɛ sɛ amemene no dwumadi fã kɛse no ara yera. Mpɛn pii no, abofra no wu bere a wadi mfe 2 kosi 4. Nea ɛtaa ma Tay-Sachs yare no kum wɔ nkokoaabere mu ne ahurututu mu yare te sɛ ahurututu mu yare .

Tay-Sachs Mmofra Nsɛnkyerɛnne

Sɛ mmofra di mfe 5 akyi a, mmofra a wɔahu sɛ wɔwɔ mmofraberem Tay-Sachs yare no betumi anya sɛnkyerɛnne ahorow te sɛ:

• Ntini a ɛyɛ mmerɛw anaasɛ ntini a ɛmma wontumi nni so.
• Nyarewa a wɔtaa nya.
• Ɔkasa ne kasa mu nsɛnnennen (e.g., nsɛmfua a ɛyɛ mmerɛw, a ontumi nkasa pefee).
• Nneɛma a woadi kan asua a wo werɛ befi.
• Nsakrae a ɛba suban ne adwene mu (e.g., mpofirim ara a obi bo fuw, ne werɛ ahow).
• Aniwa ne aso a ɛyɛ mmerɛw.
• Sɛ obi nya akisikuru (akisikuru).

Mpɛn pii no, tebea yi kɔ so nkakrankakra kosi mmabunbere mu, na saa bere no mu no, ebetumi ama obi awu.

Tay-Sachs a efi ase akyiri yi ho sɛnkyerɛnne

Mpanyimfo a wɔahu sɛ wɔwɔ Tay-Sachs yare a efi ase akyiri yi no betumi anya sɛnkyerɛnne ahorow te sɛ:

• Ntini a ɛyɛ mmerɛw ne ntini a ɛyɛ mmerɛw .
• Kari pɛ - a wɔsan frɛ no ataxia - anaasɛ ɛyɛ den sɛ wobɛnantew.
• Ɔkasa ne mene a ɛyɛ den .
• Adwene mu haw ahorow te sɛ adwene mu yare anaa adwenemyare afoforo a ɛba.

Nanso, mpɛn pii no, saa ɔkwan a ɛba akyiri yi nnya obi nkwa nna so nkɛntɛnso tẽẽ.

Dɛn na ɛde Tay-Sachs Yare no ba?

Nea ɛde Tay-Sachs yare no ba titiriw ne awosu mu nsakrae (nsakrae) a ɛba HEXA awosu mu abɔde mu . Susuw ho sɛ saa HEXA awosu mu abɔde yi te sɛ nhoma a ɛde akwankyerɛ ma yɛn nkwammoaa. Nhoma yi kura akwankyerɛ a ɛfa sɛnea wɔbɛyɛ enzyme bi a wɔfrɛ no hexosaminidase A. Saa hexosaminidase A enzyme yi te sɛ odwumayɛni bi wɔ yɛn nipadua mu. N’adwuma ne sɛ ɛbɛbubu na ayi nneɛma bi a epira, awuduru (titiriw nneɛma a srade wom) a ɛboaboa ano wɔ nipadua no mu no afi hɔ. Afei, sɛ wɔannyɛ saa enzyme yi yiye anaasɛ ɛnyɛ adwuma yiye esiane sintɔ bi a ɛwɔ HEXA awosu mu abɔde mu nti a, dɛn na ɛba? Saa srade a epira no fi ase boaboa ano wɔ nkwammoaa no mu, te sɛ nwura a wɔaboaboa ano . Eyi ma nkwammoaa a ɛwɔ amemene ne akyi berɛmo mu no sɛe, na awiei koraa no saa nkwammoaa no wuwu. Ɛno nti na Tay-Sachs yare no ho sɛnkyerɛnne ahorow no ba.

Ɔkwan bɛn so na wonya Tay-Sachs Yare no fi awo mu? Dɛn na autosomal recessive kyerɛ?

Tay-Sachs yare no yɛ autosomal recessive tebea. Sɛ yɛbɛka no tiawa a, eyi kyerɛ sɛ sɛ abofra bi benya Tay-Sachs yare a, ɛsɛ sɛ abofra no nya HEXA awosu mu abɔde no mfonini abien a asɛe. Yɛn nyinaa wɔ awosu mu abɔde biara mfonini abien, biako fi yɛn maame hɔ na biako fi yɛn papa hɔ. Sɛ awofo baanu no nyinaa wɔ HEXA awosu mu nkwaadɔm a asɛe no na wɔde saa awosu mu nkwaadɔm abien no nyinaa ma wɔn ba nkutoo a, Tay-Sachs yare no ba. Afei abofra no HEXA awosu mu nkwaadɔm no mfonini abien no nyinaa nyɛ adwuma yiye. Ɛtɔ mmere bi a nnuruyɛfo nso frɛ tebea yi hexosaminidase A a enni nipadua no mu, anaa hex A a enni nipadua no mu.

Hena ne Tay-Sachs soafo?

Carrier yɛ obi a ɔwɔ HEXA awosu mu abɔde no biako a ɛyɛ adwuma ne biako a asɛe . Yɛn nyinaa nya awosu mu nkwaadɔm no mfonini abien (baako fi yɛn maame nkesua mu, na biako nso fi yɛn papa mmadwoa mu). Wɔn a wɔde yare no kɔ no nnya yare no anaasɛ wɔnkyerɛ yare no ho sɛnkyerɛnne.. Efisɛ wɔn nipadua betumi de saa awosu mu abɔde biako a ɛyɛ adwuma no ayɛ enzyme a ɛho hia no. Afei fa no sɛ nnipa baanu a wɔwɔ saa awosu mu nkwaadɔm mu nsakrae yi (wɔn baanu a wɔde nneɛma kɔ) bom bɛwo ba. Afei hokwan a ɛwɔ hɔ sɛ saa abofra no benya saa tebea yi te sɛ nea edidi so yi:

• Hokwan wɔ hɔ 25% (baanan biara mu biako) sɛ abofra no rennya HEXA awosu mu nkwaadɔm a asɛe biara. Eyi kyerɛ sɛ abofra no rennya Tay-Sachs yare no na saa ara nso na ɔrenyɛ obi a ɔde ɔyare no kɔ.
• Hokwan wɔ hɔ 50% (baako wɔ baanu biara mu) sɛ abofra benya awosu mu abɔde a ɛtɔ sin afi ɔwofo biako hɔ. Afei abofra no bɛyɛ obi a ɔsoa, nanso ɔrennya Tay-Sachs yare no. Sɛ́ obi a ɔsoa nneɛma no, obetumi de awosu mu abɔde no akɔma ne mma daakye.
• Hokwan wɔ hɔ 25% (baanan biara mu biako) sɛ abofra benya awosu mu abɔde a ɛtɔ sin no afi awofo baanu no nyinaa hɔ. Ɛno ne bere a abofra no benya Tay-Sachs yare no.

Ɛte sɛ nea worebɔ sika bi. Nneɛma abiɛsa yi nyinaa ka nyinsɛn biara pɛpɛɛpɛ.

Dɛn ne nneɛma a ɛde Tay-Sachs Yare no ba?

Sɛ wɔn awofo a wɔwoo no baanu nyinaa yɛ awosu mu nkwaadɔm mu nsakrae no kurafo nkutoo a, asiane kɛse wom sɛ abofra benya Tay-Sachs yare no . Obiara betumi ayɛ awosu mu nkwaadɔm mu nsakrae yi kurafo. Nanso, tebea no abu so kɛse wɔ mmusuakuw bi mu. Sɛ nhwɛso no, nnipa a wofi Franse-Canada, Europa Apuei Fam, anaa Ashkenazi Yudafo abusua mu no taa kura saa awosu mu nkwaadɔm mu nsakrae yi. Ebia wɔn mu bɛyɛ 30 biara mu biako yɛ obi a ɔde nneɛma kɔ.

Dɛn ne nsɛnnennen a ɛwɔ Tay-Sachs Yare no mu?

Mmofra a wɔwɔ Tay-Sachs yare no wuwu wɔ wɔn mmofraase . Bere a yare no kɔ so no, abofra nkwa nna so tew.

Ɔkwan bɛn so na wohu Tay-Sachs Yare no?

Oduruyɛfo bi de mogya mu nhwehwɛmu hu Tay-Sachs yare no . Wɔ sɔhwɛ yi mu no, oduruyɛfo no fa mogya ketewaa bi fi wo ba no nan ase anaa ntini bi a ɛwɔ ne nsa mu. Afei wɔsɔ mogya no mu hwɛ sɛnea enzyme hexosaminidase A. Wɔ abofra a ɔwɔ Tay-Sachs yare no mu wɔ ne mmofraase mu no, protein yi nni hɔ koraa anaasɛ ɛso tew kɛse. Nnipa a wɔwɔ yare afoforo nso nni saa enzyme yi a ɛba fam. Nea ɛka ho no, ebia oduruyɛfo bi bɛyɛ aniwa mu nhwehwɛmu de ahwɛ sɛ cherry kɔkɔɔ wɔ wo ba no ani so anaa.

So wobetumi ahu Tay-Sachs yare no bere a wɔyem?

Yiw, nhwehwɛmu titiriw abien wɔ hɔ a ebetumi ahu Tay-Sachs yare bere a wɔyem:

• Amniocentesis sɔhwɛ: Wɔ sɔhwɛ yi mu no, oduruyɛfo no fa amniotic nsu a atwa akokoaa no ho ahyia wɔ w’awotwaa mu no mu kakraa bi na ɔsɔ hwɛ.
• Chorionic Villus Sampling (CVS) sɔhwɛ: Wɔ sɔhwɛ yi mu no, oduruyɛfo no yi ntini ketewaa bi fi awotwaa no mu na ɔhwehwɛ mu.

Saa nhwehwɛmu abien yi nyinaa hwehwɛ enzyme hexosaminidase A. Sɛ saa enzyme yi dodow a ɛwɔ nhwehwɛmu nhwɛsode ahorow no mu no sua sen sɛnea ɛte daa a, oduruyɛfo no behu sɛ akokoaa a ɔwɔ awotwaa no mu no wɔ Tay-Sachs yare. Bio nso, wobetumi de saa nhwɛsode ahorow yi ayɛ awosu mu nhwehwɛmu de ahu sɛ ebia nsakrae bi wɔ HEXA awosu mu nkwaadɔm a ɛde yare no ba no mu anaa.

Ɔkwan bɛn so na wɔsa Tay-Sachs Yare no?

Tay-Sachs yare no ayaresa titiriw ne ɔhwɛ a wɔboa, a ɛboa ma wodi abofra no yare no ho sɛnkyerɛnne ahorow so . Sɛ nhwɛso no, oduruyɛfo bi betumi akyerɛw nnuru ama obi de asiw akisikuru a efi ase no ano. Ɛho hia nso sɛ wɔhwɛ hu sɛ abofra no nya aduan pa na nsu wom . Aduruyɛ kuw no bɛma abofra no ho atɔ no na ɛyaw biara nni ne ho sɛnea wobetumi. Nea ɛka ho no, nnuruyɛfo bɛboa wo ne w’abusua ma moasiesie mo ho ama mo ba a wahwere no. Ebia wɔde wo bɛkɔ adwenemyare ho ɔfotufo anaa kuw bi a wɔboa awerɛhowdi nkyɛn .

Tay-Sachs yare a efi ase akyiri yi a wɔsa

Mpanyimfo a wɔwɔ Tay-Sachs yare a efi ase akyiri yi no wɔ ayaresa ahorow a edidi so yi de di wɔn sɛnkyerɛnne ahorow ho dwuma:

• Mfiri a ɛboa anaa nneɛma te sɛ mmubuafo akongua a wode bedi dwuma de aboa wo ma woayɛ adwuma wɔ wo ho na woatumi akɔ baabiara.
• Nnuru a wɔnom ma adwenemyare anaa ntini a ɛyɛ mmerɛw.
• Ɔkasa mu ayaresa.

So aduru bi wɔ hɔ a edi mũ a wɔde sa Tay-Sachs Yare no?

Dabi, mprempren wonni Tay-Sachs yare no ano aduru a edi mũ. Eyi ne nokware a ɛyɛ awerɛhow sen biara.

So wobetumi asiw Tay-Sachs Yare no ano?

Mprempren wonnim ɔkwan biara a wɔbɛfa so asiw Tay-Sachs yare ano. Nanso, sɛ wopɛ sɛ wuhu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu tebea te sɛ Tay-Sachs a, wo ne wo duruyɛfo nka afotu a wɔde ma ansa na woanyinsɛn ne awosu mu nhwehwɛmu ho ansa na woayɛ nhyehyɛe sɛ wobɛwo . Wo duruyɛfo betumi aboa wo ma woayɛ nhyehyɛe ama nyinsɛn a wubenya daakye.

Dɛn ne Tay-Sachs Yare no ho anidaso?

Tay-Sachs yare no kunkum nkokoaa ne mmofra nkumaa. Wo ba no aduruyɛ kuw no ne wo bɛkasa afa mmoa ne ɔhwɛ a wɔde ma wɔ n’asetra awiei ho . Wɔbɛma awofo, wɔn a wɔhwɛ wɔn, ne abusua mufo nso akwankyerɛ wɔ sɛnea wobetumi agyina abofra a wɔahwere no ano ho. Mmusua pii nya awerɛkyekye kɛse bere a wɔne adwenemyare ho ɔfotufo bi kasa anaasɛ wɔkɔ kuw bi a wɔboa awerɛhow no mu.

Dɛn nti na Tay-Sachs Yare no kum nnipa?

Tay-Sachs yare no kum nnipa efisɛ ɛsɛe nkwammoaa a ɛwɔ wo ba no amemene ne n’akyi berɛmo mu na ekum no.. Nkwammoaa di dwuma titiriw paa ma yɛn nipadua no kɔ so yɛ adwuma yiye. Wɔ Tay-Sachs yare mu no, awosu mu nsakrae ma nkwammoaa no nya akwankyerɛ a ɛnteɛ. Ne saa nti, nkwammoaa no ntumi nyɛ wɔn adwuma yiye. Awiei koraa no, saa nkwammoaa yi a ɛho hia ma abofra no nkwa no sɛe. Mpɛn pii no, mmofra a wɔwɔ Tay-Sachs yare no wuwu esiane ahurututu mu yare bi a wɔfrɛ no ahurututu mu yare . Esiane sɛ abofra no nkwammoaa ntumi nyɛ adwuma yiye nti, wɔn nipadua mu tumi a ɛko tia nyarewa no ntumi nko ntia ɔyare mmoawa na ama abofra no anya apɔwmuden.

Obi a ɔwɔ Tay-Sachs Yare no nkwa nna yɛ dɛn?

Mmofra a wɔwɔ Tay-Sachs yare wɔ nkokoaabere mu no taa wuwu ansa na wɔadi mfe 5. Mmofra a wɔanyinyin ne mpanyimfo nkumaa a wɔwɔ mmofraberem Tay-Sachs yare no betumi atra ase akosi wɔn mpanyin afe so. Tay-Sachs yare a efi ase akyiri yi no nka mpanyimfo nkwa nna tẽẽ.

So wobetumi asa Tay-Sachs Yare no?

Dabi, wontumi nsa mmofra yare wɔ Tay-Sachs yare no ho. Ayaresa ne sɛ wɔbɛma abofra no ho atɔ no na ama yare no akɔ so brɛoo.

Ɔkwan bɛn so na mehwɛ me ba a ɔwɔ Tay-Sachs Yare no?

Ɔkwan a eye sen biara a wobɛfa so ahwɛ wo ba ne sɛ wubedi ne yare no ho sɛnkyerɛnne ahorow ho dwuma na woama ne ho atɔ no sɛnea wubetumi . Wo nnuruyɛfo kuw no bɛma wo akwankyerɛ ne ɔhwɛ wɔ nsɛm yi ho:

• Ɔhome: Mmofra pii a wɔwɔ Tay-Sachs yare no, ɛyɛ den sɛ wɔbɛhome. Wobetumi anya ahurututu mu yare efisɛ wɔn nnompe dɔɔso na ɛyɛ den sɛ wɔbɛmene. Nnuru ahorow, mfiri, anaa sɛnea wɔde abofra no si baabi a, ebetumi aboa no ma wahome ntɛmntɛm.
• Aduandi: Ɔkasa ne kasa mu nyarewa ho ɔbenfo betumi akyerɛkyerɛ wo ba no akwan a ɔbɛfa so aboa no ma wadidi na wanom. Bere a ɛyɛ den sɛ ɔbɛmene no, ebia wo ba behia afiri a wɔde ma no aduan .
• Akisikuru: Ntini mu ɔyaresafo betumi aboa wo ma woanya ayaresa nhyehyɛe a eye sen biara a wode bedi wo akisikuru no so.
• Nkate mu nkanyan: Mmofra a wɔwɔ Tay-Sachs no wɔ nkate mu nsɛm bi (ɔhaw ahorow a ɛwɔ nkate anum no ho). Wubetumi de nneɛma te sɛ nnwom, telefon a wokura kyin, hua a ɛma wɔn ho dwo, ne ntama a ɛyɛ mmerɛw akanyan wɔn nkate.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Wo ne wo duruyɛfo nkasa wɔ nsɛm yi mu:

• Sɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a: Sɛ woresusuw ho sɛ wubenyinsɛn na asiane kɛse wom sɛ wode Tay-Sachs yare no bɛkɔ wo ba no mu a, wo ne wo duruyɛfo nkasa. Asiane a ɛkɔ soro betumi ayɛ sɛ wo anaa wo hokafo wɔ abusua abakɔsɛm a ɛwɔ Tay-Sachs yare no, anaasɛ sɛ mo mu biako anaa mo baanu nyinaa wɔ Tay-Sachs yare no. Awosu mu nhwehwɛmu wɔ hɔ ma wɔn a asiane kɛse wom sɛ wɔbɛwo akokoaa a ɔwɔ Tay-Sachs yare no.Wobetumi ayɛ.
• Sɛ wowɔ nsɛm bi a ɛhaw wo wɔ nyinsɛn mu a: Sɛ woanyinsɛn na wowɔ wo ba a ɔhyɛ yafunu mu no akwahosan ho dadwen a, kɔ wo duruyɛfo nkyɛn.
• Sɛ wo ba no reda yare no ho sɛnkyerɛnne adi a: Sɛ wususuw sɛ wo ba no ntumi nhyia nkɔso mu nsɛntitiriw wɔ bere ano anaasɛ ɔreda Tay-Sachs ho sɛnkyerɛnne adi a, wo ne wɔn duruyɛfo nkasa.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ asiane kɛse wɔ hɔ sɛ wobɛwo akokoaa a ɔwɔ Tay-Sachs yare no a, bisa wo duruyɛfo nsɛm yi:

• M’ani gye preconception counseling ho , dɛn na ɛsɛ sɛ meyɛ?
• Mɛyɛ dɛn atumi atew asiane a ɛwɔ hɔ sɛ mɛwo akokoaa a ɔwɔ Tay-Sachs yare no so?
• Sɛ me ne me hokafo nyinaa yɛ asoafo a , dɛn na ɛba ?
• Ayaresa bɛn na wokamfo kyerɛ ma me ba no?
• Mɛyɛ dɛn atumi akura me ba no mu yiye?
• So wubetumi akamfo awerɛhow ho afotu anaa kuw bi a wɔboa awerɛhowdi akyerɛ ?

So Sandhoff yare no ne Tay-Sachs yare no yɛ pɛ?

Yiw, Sandhoff yare no ho sɛnkyerɛnne ne sɛnea ɛkɔ so no te sɛ Tay-Sachs yare no. Eyi nso yɛ tebea a wonya fi awo mu. Tay-Sachs yare no ne enzyme bi a wɔfrɛ no hexosaminidase A. Sandhoff yare no ne hexosaminidase A ne enzyme foforo a wɔfrɛ no hexosaminidase B nyinaa wɔ abusuabɔ.

Nea etwa to no, ma eyi ntra w’adwenem.

Tay-Sachs yareɛ yɛ adeɛ a ɛyɛ den paa na ɛyɛ awerɛhoɔ. Nea worete nka no yɛ nea ntease wom. Wɔ saa bere a emu yɛ den yi mu no, nneɛma bi a ebetumi aboa wo ni:

• Mma wo nkutoo nhu amane. Ɛyɛ den sɛ wo nkutoo bedi eyi ho dwuma. Bisa mmoa fi nnuruyɛfo, ayarehwɛfo, w’abusua, ne nnamfo a wɔrehwɛ wo ba no hɔ. Sɛ wote nka sɛ woayɛ basaa a, nsuro sɛ wobɛhwehwɛ ɔfotufo anaasɛ wobɛka kuw bi a wɔboa wo a awofo a wɔwɔ osuahu a ɛte sɛ wo de no ho.
• Wɔbɛhwɛ wo ba no yiye. Sɛ yare no mu yɛ den mpo a, nnuruyɛfo no bɛyɛ nea wobetumi biara na ama wo ba no ho atɔ no na ɛyaw biara nni ne ho sɛnea wobetumi. Wubetumi de wo ho ato saa asɛm no so.

Eyi nso ho hia yiye: Sɛ woresusuw ho sɛ wobɛwo akokoaa bio a, akyinnye biara nni ho sɛ yɛ awosu mu nhwehwɛmu ansa na woawo akokoaa . Nya afotu wɔ ho. Afei mubetumi ahu biribiara na moasi gyinae a eye sen biara sɛ abusua.

Mewɔ anidaso sɛ saa nsɛm yi bɛboa wo. Sɛ wuhia nsɛm pii a, nsuro sɛ wubebisa wo duruyɛfo.