Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Fragile X Syndrome (FXS)

Ushobora kuba warabonye ko umwana wawe muto arimo kugira ibibazo byo gukura cyangwa zimwe mu myitwarire ye idasanzwe. Wenda yatinze kuvuga, cyangwa ntashaka gusabana n'abandi bana. Hari igihe, inyuma y'ibi bintu, hashobora kuba hari indwara yitwa Fragile X Syndrome (FXS). Ntugatinye iyo wumvise iri zina. Reka tubiganireho mu buryo burambuye uyu munsi, mu buryo bworoshye cyane, sibyo?

Indwara ya Fragile X ni iki?

Muri make, Fragile X Syndrome ni indwara iterwa n'uturemangingo ihererekanywa kuva ku gisekuru kugeza ku kindi . Ishobora gutuma umwana agira impinduka zimwe na zimwe ku mubiri, ibibazo by'imyitwarire, n'ibindi bibazo bitandukanye by'ubuzima. Urugero:

• Gutinda mu mikurire y'umwana.
• Ubumuga bwo mu mutwe.
• Ubumuga bwo kwiga.
• Guhangayika kenshi.
• Kugorwa no kwita ku bintu no gukora cyane, indwara izwi nka Attention-deficit/hyperactivity disorder (ADHD).
• Bishobora no kugaragaza ibimenyetso by'indwara ya autisme spectrum.

Yitwa "Fragile X" kuko iyo chromosome ya X irebewe hifashishijwe mikorosikopi, igice kimwe cyayo gisa nkaho "cyacitse" cyangwa "cyacitse intege." Irindi zina ryayo ni indwara ya Martin-Bell. Iyi ni imwe mu ndwara zikunze kugaragara mu bwenge no mu mikurire (IDDs).

Iyi ndwara ikunze kugaragara gute?

Abashakashatsi ntibaramenya neza umubare w’abantu ku isi bafite Fragile X Syndrome, ariko bavuga ko umukobwa umwe ku 11.000 n’umuhungu umwe ku 7.000 bashobora kuba bafite iyi ndwara.

Ni ibihe bimenyetso bya Fragile X Syndrome?

Indwara ya Fragile X ishobora kugira ingaruka ku bwenge bw'umwana wawe, ku buzima bwe bwo mu mutwe, ku miterere ye y'umubiri, ndetse n'imyitwarire ye. Reka turebe ibimenyetso bisanzwe muri buri gice.

Ibibazo bijyanye n'ubutasi

• Ubumuga bwo kwiga: Bishobora kugorana kwiga no kwibuka ibintu bishya.
• Kugabanuka k'ubwenge: Uko abantu bagenda bakura, amanota yabo y'ubwenge ashobora kugabanuka gato.
• Intambwe z'iterambere zitinda mu bwana: Urugero, bashobora gutinda kurusha abandi bana mu gutangira kugenda, kuvuga no kurya bonyine.
• Inzitizi mu itumanaho ritari iryo mu magambo: Ibi bivuze ko bishobora kugorana kugaragaza ibitekerezo ukoresheje ibimenyetso, isura, n'ibindi bimenyetso bitari ibyo mu magambo.
• Ibibazo byo kumva no kuvuga ururimi:Mu gihe cy'imyaka ibiri, ushobora kubona ko umwana wawe afite ibibazo byo kuvuga no gusobanukirwa amagambo.
• Ingorane zo gukemura ibibazo by'imibare.

Menya neza ko ugenzura imikurire y'umwana wawe niba nta kibazo kirimo. Ni ngombwa kuvugana na muganga wawe ku byerekeye intambwe z'imikurire zikwiriye buri myaka n'uburyo bwo kuzisuzuma neza.

Ibibazo by'ubuzima bwo mu mutwe

• Guhangayika kenshi.
• Indwara nk'ihungabana .
• Gukenera cyane gusubiramo cyangwa gutekereza ku bintu bimwe na bimwe (Imyitwarire ishingiye ku kwibanda ku bintu).

Imiterere y'umubiri

Ibi bimenyetso ntibigaragara kuri buri wese, ariko bimwe mu bimenyetso bikunze kugaragara ni ibi bikurikira:

• Isura ndende kandi ifunganye.
• Agahanga kanini.
• Ikintu gikomeye.
• Amatwi manini.
• Amaso afite uruhu (strabismus).
• Intoki ziba zoroshye cyane, cyangwa "zifite impande ebyiri".
• Ibirenge birebire.
• Amasambu y'abahungu arakura nyuma y'ubugimbi.
• Akanwa gafite imiterere miremire.
• Kutagira imbaraga z'imitsi (hypotonia), bivuze ko umubiri ushobora kumva urembye gato.

Ni ibihe bibazo by'imyitwarire?

Indwara ya Fragile X ishobora gutera ibibazo bitandukanye by'imyitwarire ku mwana. Urugero:

• Kugorwa no kwita ku bintu no gukora cyane (ADHD).
• Guhangayika no kugira isoni. Tekereza, iyo ugiye mu birori mu rugo rw'umuvandimwe, wirinda abandi bantu kandi ukareba hasi iyo umuntu avuze.
• Imyitwarire isubiramo nko gukoma amashyi cyangwa kurumana.
• Kudashaka kureba mu maso.
• Indwara zo kumva - Ibi bivuze ko ushobora kuba ufite ibyiyumvo byinshi nko ahantu hahurira abantu benshi, umuntu ugukoraho umubiri, urusaku, ibiryo bimwe na bimwe, n'imyenda. Hari igihe ushobora gutungurwa n'urusaku n'akantu gato cyane, cyangwa ukavuga ko udashobora kurya ibiryo bimwe na bimwe.
• Kugorwa no gusobanukirwa amarangamutima y'abandi n'ibimenyetso by'imibanire yabo.

Ni iki gitera indwara ya Fragile X?

Ibi biterwa n'impinduka mu miterere y'uturemangingo muri gene `FMR1` iherereye kuri chromosome yacu ya X. Iyi gene `FMR1` itegeka umubiri wacu gukora poroteyine yitwa `FMRP`. Iyi poroteyine `FMRP` ni ingenzi cyane mu iterambere ry'imibanire `(synapses)` hagati y'uturemangingo tw'imitsi. Ni muri izi `synapses` aho impulses z'imitsi `(impulses z'imitsi)` zinyura.

Bitewe n’impinduka mu ngirabuzimafatizo ya FMR1, igice cya ADN cyitwa CGG triplet repeat kiba kirekire cyane kuruta ibisanzwe. Ubusanzwe, iki gice gisubiramo inshuro zigera kuri 5 kugeza kuri 40, ariko ku bantu bafite Fragile X Syndrome, gisubiramo inshuro zirenga 200 .Ibi bituma gene ya `FMR1` "icecekeshwa", bivuze ko idashobora gukora poroteyine ya `FMRP` neza. Ibi bigira ingaruka ku mitsi y'umwana kandi bigatera ibimenyetso bya Fragile X Syndrome.

Ibi bihererekanwa gute kuva ku gisekuru kugeza ku kindi? (Icyitegererezo cy'umurage)

Syndrome ya Fragile X iragwa mu buryo bwa X-linked dominant pattern. Ibi bivuze ko gene yahinduwe iyitera iba iri kuri chromosome ya X. "Iyiganje" kuko no kugira kopi imwe ya gene yahinduwe bihagije kugira ngo itere iyo ndwara.

Indwara ya Fragile X ikunze kugaragara cyane mu bahungu kandi igira ibimenyetso bikomeye kuko bafite chromosome imwe ya X gusa. Abakobwa bafite chromosome ebyiri za X. Kubwibyo, nubwo chromosome imwe ya X yaba ifite impinduka, indi chromosome ya X nzima ishobora kutagaragaza ibimenyetso kandi ishobora kuba ari yo itwara gusa. Ariko, abahungu bafite Fragile X bahora bagaragaza ibimenyetso.

Ese hari izindi ngaruka ku buzima ku bantu batwara Fragile X?

Yego, ni ingenzi cyane. Niba umwana wawe afite Fragile X Syndrome, ugomba kubimenyesha muganga wawe. Kubera ko ushobora kuba uyifite, ushobora kuba ufite ibyago byinshi ku buzima, nko:

• Gucura bibaho mbere y'imyaka 40.
• Indwara ziterwa no kwibuka nka dementia.
• Umuvuduko w'amaraso ukabije.
• Kwiheba.
• Guhangayika.
• Indwara zo mu mutwe.
• Kugabanuka k'imikorere y'agahu ka tiroyide (Hypothyroidism).
• Ububabare budakira.
• Kubura umwuka wo gusinzira.

Ni izihe ngorane zishobora guterwa na Fragile X Syndrome?

Hari igihe abantu barwaye Fragile X Syndrome bashobora kurwara izindi ndwara. Mu bushakashatsi bumwe, ababyeyi bavuze ko abana babo nabo barwaye:

• Indwara zo mu mutwe.
• Ibibazo byo gusinzira. Ubundi bushakashatsi bwagaragaje ko abana 4 kuri 10 bafite indwara ya Fragile X na autism spectrum disorder bagiraga ibibazo byo gusinzira, ugereranyije n'abana 3 kuri 10 bafite Fragile X yonyine.
• Ubukana cyangwa umujinya. Abana bafite ikibazo cya Fragile X, cyane cyane abafite ubumuga bwo mu mutwe, bakunze kugira umujinya mwinshi.
• Imyitwarire yo kwikomeretsa.
• Umubyibuho ukabije.

Indwara ya Fragile X ipimwa ite?

Kugira ngo umenye indwara ya Fragile X Syndrome, hafatwa ADN y'amaraso y'umwana wawe cyangwa izindi ngingo.Muganga azafata icyitegererezo maze akiyohereze muri laboratwari. Aho niho bazareba niba umwana afite ihinduka ryavuzwe mbere muri gene ya `FMR1`.

Niba utwite kandi ukaba ukeka ko umwana wawe ashobora kuba afite Fragile X Syndrome, ushobora guhura n'umujyanama mu by'imiterere y'umubiri (genetics) maze ukamukorera ibizamini byo gutwita nka:

• Amniocentesis: Ibi bikubiyemo gufata icyitegererezo cy'amazi ya amniotic ari mu mura no kuyapima.
• Gufata ingero za chorionic villus: Ibi bikubiyemo gufata ingero z'uturemangingo two mu nyababyeyi no kuzipima.

Iyi ndwara ikunze kugaragara ku kigero cy'imyaka ingahe?

Abahungu benshi basuzumwa bafite hagati y'amezi 35-37 . Abakobwa bashobora kuvurwa nyuma gato, bageze ku mezi 42. Ariko, ushobora kubona ibimenyetso bimwe na bimwe mu mezi 12.

Ni ibihe bibazo muganga ashobora kubaza kugira ngo afashe gusuzuma indwara?

Mbere y'uko muganga w'umwana wawe cyangwa umujyanama mu by'uturemangingo agutegeka gupimwa indwara ya Fragile X Syndrome, bashobora kukubaza ibibazo nk'ibi:

• Ni ibihe bimenyetso wabonye ku mwana wawe?
• Ni gute umwana wawe yiga ibintu bishya?
• Ese umwana wawe agira isoni?
• Ese umwana wawe afite ibibazo byo gusinzira?
• Ese umwana wawe ahora ahangayitse?
• Ese umwana wawe yirinda kurebana mu maso?
• Ese umwana wawe afite imiterere idasanzwe ku mubiri we?
• Ubushobozi bwo kuvuga bw'umwana wawe bumeze bute?

Ese indwara ya Fragile X ishobora kumenyekana umuntu akuze?

Nubwo indwara ya Fragile X ikunze kugaragara mu bwana, hari izindi ndwara ebyiri mu muryango wa Fragile X zifata abantu bakuru. Izo ndwara ni izi:

• Indwara yo kubabara mu mutwe (Fragile X-associated tremble/ataxia syndrome) (FXTAS): Ibimenyetso birimo ibibazo byo kuringaniza imikorere, guterana amaboko, kudakomera mu byiyumvo, gutakaza kwibuka, ibibazo byo gutekereza, no kugira ibinya mu ngingo.
• Indwara yo kutagira ubushobozi bwo kubyara (FXPOI) ifite intege nke mu mikurire y’intanga (fragile X-associated primary ovarian insufficiency): Ibimenyetso birimo kugabanuka k’uburumbuke, kugorwa no gutwita, imihango idahoraho cyangwa itabaho, no gucura imburagihe.

Niba ufite ibimenyetso nk'ibi, ni byiza kuvugana na muganga.

Indwara ya Fragile X ivurwa ite?

Nta muti wihariye uhari wo kuvura indwara ya Fragile X.Ariko, ibimenyetso by'iyi ndwara birashobora kuvurwa. Muganga w'umwana wawe ashobora kuguha imiti itandukanye. Dore ingero zimwe na zimwe, zigashyirwa mu byiciro hakurikijwe ibimenyetso:

• Indwara y'igicuri cyangwa kutagira ibyiyumvo bihamye:
• Karubone ya Lithium
• Gabapentin (Neurontin®)
• Ku bijyanye na ADHD:
• Methylphenidate (Ritalin®, Concerta®) na dextroamphetamine (Adderall®, Dexedrine®)
• Venlafaxine (Effexor®) na nefazodone (Serzone®)
• Ku ndwara yo kudakora ibintu ku bushake (OCD):
• Fluoxetine (Prozac®)
• Sertraline (Zoloft®) na citalopram (Celexa®)
• Ku bibazo byo gusinzira:
• Trazodone (Desyrel®)
• Melatonine

Uru ni urutonde ruto rw'imiti muganga ashobora kukwandikira. Menya neza ko uganira na muganga wawe ku ngaruka mbi zishobora guterwa na buri muti n'ingaruka mbi.

Uretse imiti, muganga akunze gutanga inama yo kuvura indwara zo mu mutwe , ubwo ni uburyo bwo kuvura bufasha umwana kwihanganira iki kibazo no kugenzura imyitwarire ye.

Ejo hazaza h'abantu bafite Fragile X Syndrome ni he?

Bamwe mu bantu barwaye indwara ya Fragile X bashobora kubaho mu buryo bwigenga. Ubushakashatsi bwerekana ko abakobwa bagera kuri 4 kuri 10 n'umuhungu 1 kuri 10 barwaye Fragile X bakura bakaba abantu bigenga cyane. Abakobwa bafite amahirwe menshi yo kuba:

• Gusoma ibitabo bifite ibitekerezo bishya n'amagambo mashya.
• Kuvuga interuro zigoye.
• Kuvuga ku muvuduko usanzwe.

Indwara ya Fragile X ikunze kuba mbi cyane ku bahungu. Abakobwa bagera kuri 8 kuri 20 bafite Fragile X ntibakenera ubufasha mu mirimo ya buri munsi. Ariko umuhungu 1 kuri 20 ni we ukenera ubufasha. Nubwo abakobwa benshi barangiza amashuri yisumbuye, abahungu benshi ntibabikora. Hafi kimwe cya kabiri cy'abagore bafite Fragile X bakora akazi k'igihe cyose, ariko abahungu 2 kuri 10 ni bo bakora.

Ese umwana wanjye ashobora kujya mu kigo cyita ku bana/ishuri?

Yego, ariko umwana wawe ashobora gukenera amacumbi yihariye mu kigo cyita ku bana cyangwa ku ishuri. Hari ibice bimwe na bimwe by'ishuri n'icyumba cy'ishuri bishobora gukenera guhindurwa kugira ngo bihuze n'ibyo akeneye. Umwarimu w'umwana wawe ashobora kugira ibyo ahindura ku bidukikije n'integanyanyigisho.

Impinduka zijyanye n'ibidukikije:

• Gukomeza kwanduza urusaku ku rwego rwo hasi.
• Gukomeza kubona urumuri rusanzwe.
• Kwirinda ahantu hahurira abantu benshi.

Impinduka zijyanye n'integanyanyigisho:

• Gukoresha ibikoresho bifasha mu kureba nk'ibishushanyo, impapuro zo gusiga amabara, n'amashusho.
• Gufasha abana kwiga bakoresheje ibikoresho babona ko bishimishije cyane .
• Kuyobora umwana gukora mu matsinda mato .

Menya neza ko umenyesha ishuri ko umwana wawe afite indwara ya Fragile X Syndrome. Vugana n'umwarimu ku byo akeneye byihariye. Ushobora kandi gushaka kubonana n'umuganga w'imitekerereze y'abana cyangwa umujyanama mu by'imitekerereze y'abana bo mu ishuri. Bakorana n'abana barengeje imyaka 3. Izindi nzobere ushobora gushaka kuvugana nazo zirimo:

• Abavuzi b'inzobere mu by'ubuvuzi bw'akazi
• Abavuzi b'imyitwarire
• Abahanga mu by'indwara z'ururimi
• Abakozi bashinzwe imibereho myiza y'abaturage

Baza ishuri ryawe n'abashinzwe ubuvuzi bo mu gace utuyemo kugira ngo ubahe amakuru arambuye kuri ibi.

Indwara ya Fragile X imara igihe kingana iki? Imyaka yo kubaho ni iyihe?

Indwara ya Fragile X ni indwara ibaho ubuzima bwose. Nta muti wihariye uhari.

Ariko, nta kimenyetso na kimwe cya Fragile X Syndrome gishobora gushyira ubuzima mu kaga. Kubwibyo, igihe cy'ubuzima bw'aba bantu gisa n'icy'umuntu usanzwe.

Ese indwara ya Fragile X Syndrome ishobora kwirindwa?

Oya, Fragile X Syndrome ni indwara iterwa n’uturemangingo kandi ntishobora kwirindwa. Niba uteganya gutwita, cyangwa usanzwe utwite, ni byiza kuvugana n’umujyanama mu by’uturemangingo ku bijyanye n’ingaruka zishobora gutuma umwana wawe avukana iyi ndwara.

Ubuzima bumeze bute iyo umuntu afite Fragile X Syndrome?

Indwara ya Fragile X ntabwo igira ingaruka ku mwana wese mu buryo bumwe. Itsinda ry’abaganga ry’umwana wawe rishobora kuguha igitekerezo cyiza cy’uko izagira ingaruka ku mwana wawe n’umuryango wawe. Nubwo hari ibintu bimwe na bimwe by’iyi ndwara bishobora kugorana, hari n’ibintu byinshi byiza. Urugero, abashakashatsi babonye abantu barwaye Fragile X:

• Birafasha.
• Ubwoko.
• Gutekereza ku bandi.
• Nshuti.
• Bishobora kwiganwa neza.
• Kwibuka ibintu bifatika no kwibuka ibintu birambye ni byiza.
• Nkunda urwenya kandi ndabibona nk'ibisekeje.

Nafasha nte inshuti/umuryango wanjye ufite indwara ya Fragile X Syndrome?

Menya amakuru ashoboka. Shaka amatsinda y'abaterankunga n'ibikoresho by'umuryango bishobora kugufasha wowe na bo. Gahunda z'ubumenyi bw'ubuzima zishobora kuba zikwiriye. Zimwe muri zo zitanga ubuyobozi ku bintu nka:

• Ibikorwa by'imibanire.
• Imibonano mpuzabitsina.
• Ibinezeza.
• Uburezi.
• Akazi.

Ni ingenzi cyane ko ushyigikira umwana wawe kugira ngo amenye neza ko abona ubuvuzi akeneye kandi agire ubuzima bwiza bushoboka.

Ni ryari nkwiye kujyana umwana wanjye kwa muganga?

Jyana umwana wawe kwa muganga w'abana ukimara kubona ibimenyetso bya Fragile X Syndrome. Ntugatinde, kuko gutabara hakiri kare ni ingenzi cyane.

Ni ibihe bibazo ngomba kubaza muganga?

Dore ibibazo bimwe na bimwe ushobora kubaza muganga wawe mu gihe uganira ku ndwara yawe:

• Ese umwana wanjye agomba kubonana n'inzobere?
• Ni ubuhe bwoko bw'abaganga b'indwara umwana wanjye agomba kubona?
• Indwara ya Fragile X iteye ubwoba bungana iki?
• Ni uwuhe muti ukwiriye umwana wanjye?
• Nafasha nte umwana wanjye?
• Ni izihe ngamba zanjye zo kwitabara hakiri kare?
• Ni gute nk'umuryango twafasha umwana wanjye?

Gusuzuma indwara ya Fragile X Syndrome bishobora kugorana wowe n'umwana wawe. Ni intangiriro y'impinduka nyinshi n'uburyo bwo kuyihindura. Ibintu nko kuvura, imiti, n'ishuri ubu ni bimwe mu bigize ubuzima bw'umwana wawe. Mu gihe urimo gufasha umwana wawe, ntukibagirwe ibyo ukeneye. Wibuke ko kugira umwana wawe indwara ya Fragile X Syndrome bivuze ko nawe uri mu kaga ko kurwara izindi ndwara nyinshi, nko kwiheba no kurwara umutwe.

Amaherezo, ibintu byo kwibuka

Rero, twavuze byinshi kuri Fragile X Syndrome uyu munsi. Dore ibintu by'ingenzi ugomba kwibuka:

• Iyi ni indwara iterwa n'uturemangingo , bivuze ko ari ikintu gihererekanywa mu bisekuruza.
• Ibi ni ubuzima bwose , ariko ibimenyetso birashobora gukemurwa.
• Gusuzuma indwara hakiri kare, kuvurwa hakiri kare, no gutangiza serivisi z'ubuvuzi zikenewe ni ingenzi cyane ku mikurire y'umwana.
• Kimwe n'umwana, ukeneye inkunga. Biragoye guhangana n'ibi bintu wenyine.
• Nubwo hari imbogamizi muri iki kibazo, aba bana bafite ibintu byinshi byiza n'ubushobozi bwinshi.

Ndizera ko aya makuru azagufasha. Niba ufite ibindi bibazo, nyamuneka vugana na muganga wawe.

` indwara ya x idakomeye, fxs, indwara y'uturemangingo, gutinda mu mikurire, ubumuga bwo mu mutwe, ubuzima bw'umwana, ubumuga bwo kwiga