Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Noonan Syndrome

Nk'umubyeyi cyangwa se, ushobora guhora uhangayikishijwe n'ubuzima bw'umwana wawe n'imikurire ye. Hari igihe biba ibisanzwe kumva ufite ubwoba iyo ubonye impinduka nto mu miterere y'umwana wawe cyangwa ibibazo by'imikurire ye. Uyu munsi tugiye kuvuga ku ndwara ikomeye y'uturemangingo ababyeyi nk'abo bagomba kumenya. Iyo ni indwara yitwa Noonan Syndrome.

Indwara ya Noonan ni iki?

Mu magambo make, Noonan Syndrome ni indwara iterwa n'imiterere y'uturemangingo . Iterwa n'impinduka mu miterere y'uturemangingo mu mubiri wacu. Iyi ndwara ishobora kugira ingaruka ku mwana wawe mu buryo butandukanye. Hari abana bavukana iyi ndwara, ariko ibimenyetso bishobora kuba byoroheje cyane. Ibi bivuze ko bashobora kubaho ubuzima busanzwe nta bibazo bikomeye bafite. Ariko, hari abana bashobora kugira ibibazo byinshi .

Muri iyi ndwara, isura y'umwana ishobora kugira imiterere imwe n'imwe idasanzwe . Urugero, agahanga kerere, amaso yagutse, amatwi yo hasi, n'ijosi rigufi. Nanone, abana benshi barwaye Noonan Syndrome baba bagufi ugereranyije n'imyaka yabo, bivuze ko bashobora kugaragara nk'abagufi . Ibibazo by'amaso, imitsi mike, n'indwara z'umutima bavukanye nabyo ni ibisanzwe.

Ariko iki kibazo ni uko nta muti wa Noonan Syndrome uhari . Ariko ntugire ikibazo! Muganga wawe ashobora kuguha ubuyobozi ukeneye kugira ngo umwana wawe akomeze kugira ubuzima bwiza uko bishoboka kose. Bashobora kandi gukorana nawe mu gukumira cyangwa gutahura ingorane zishobora guterwa n'iyo ndwara. Hanyuma umwana wawe ashobora kubaho ubuzima bwuzuye kandi bukora .

Ni nde urwara iyi ndwara? Ni ku rugero rungana iki?

Indwara ya Noonan ni indwara ishobora kubaho umuntu wese akivuka. Ntidushobora kumenya uzayirwara n'utayirwara. Ariko, mu mibare, abantu bagera kuri 50% bafite indwara ya Noonan bakura iyi ndwara ku babyeyi babo. Akenshi, umuntu ufite indwara ya Noonan afite amahirwe angana na 50% yo kuyirwara ku mwana we.

Indwara ya Noonan ni indwara ikunze kugaragara mu maraso . Ni ukuvuga ko ikunze kugaragara cyane kurusha izindi ndwara zidasanzwe mu maraso. Mu buryo bw'ikigereranyo, bivugwa ko hagati y'umuntu umwe muri buri 1.000 na 2.500 ashobora kurwara iyi ndwara.

Ni iki gitera indwara ya Noonan Syndrome?

Iyi ndwara iterwa ahanini no kubura kwa enzymes zifasha ingirabuzimafatizo z'umubiri wacu gukura no gukura.Biterwa n'impinduka mu turemangingo tumwe na tumwe (mutations). By'umwihariko, poroteyine zikorwa n'utu turemangingo twahindutse ziguma zikora igihe kirekire kuruta uko bikwiye. Ibi bibuza uturemangingo gukura no kwigabanyamo ibice neza.

Hari uburyo bubiri indwara ya Noonan Syndrome ishobora kubaho:

• Umurage: Umwana aragwa iyi ndwara n'umwe mu babyeyi be.
• Guhinduka kw'umubiri mu buryo bwikora: Indwara iterwa n'impinduka nshya mu ngirabuzimafatizo, nta muntu n'umwe mu bagize umuryango wigeze agira iyo ndwara mbere.

Isuzuma ry’uturemangingo rikorwa ubu rishobora kugaragaza ikibazo cy’uturemangingo mu bantu bagera kuri 80% bafite indwara ya Noonan Syndrome. Nyamara, abashakashatsi ntibaramenya impamvu nyayo y’iyi ndwara mu bandi bantu basigaye.

Ese hari izindi ndwara zisa na Noonan Syndrome?

Yego, Noonan Syndrome ni indwara ikomoka ku itsinda ry’indwara zifitanye isano yitwa RASopathies . Izi ndwara zose ziterwa n’ibintu bidasanzwe mu buryo bumwe n’uko uturemangingo dukura kandi tugakura. Kubwibyo, ibimenyetso byazo birasa cyane.

Izindi ndwara ziri mu cyiciro cya `RASopathies` ni izi:

• Indwara y'umutima n'uruhu
• Indwara ya Costello
• Ubwoko bwa Neurofibromatosis (NF1)
• Indwara ya Legius
• Indwara ya Noonan ifite indwara ya lentigine nyinshi (yahoze yitwa LEOPARD syndrome)
• Indwara ya Turner

Ni ibihe bimenyetso by'indwara ya Noonan Syndrome?

Ibimenyetso bya Noonan Syndrome bishobora gutandukana bitewe n'umuntu ku giti cye. Hari abantu bagira ibimenyetso byoroheje cyane, abandi bafite ibimenyetso bikomeye kandi bishobora gushyira ubuzima bwabo mu kaga. Biterwa n'igice cy'umubiri w'umwana cyafashwe. Ibimenyetso byinshi bitangira umwana akiri mu nda, cyangwa bigaragara mbere y'uko umwana agira imyaka 11 .

Imiterere y'isura igaragara

Imiterere y'isura igaragara ku bana bafite indwara ya Noonan ishobora kugenda ishira buhoro buhoro uko umwana agera mu kigero cy'ubukure . Ni ukuvuga ko ishobora kugabanuka ugereranyije n'uko yari imeze mbere. Muri iyo miterere hashobora kuba harimo:

• Kugira agahanga kerere .
• Kugira umwobo muremure hagati mu munwa wo hejuru.
• Ijisho rimanuka (ptosis).
• Ifite izuru rirambuye n'umutwe umeze nk'umubyimba.
• Uduti two mu matwi tuba turi hasi ugereranije n'ibisanzwe.
• Amaso y'ubururu bworoheje cyangwa icyatsi kibisi.
• Strabismus ni indwara aho intera iri hagati y'amaso yiyongera kandi amaso agahengama, rimwe na rimwe agahindukirana.

Izindi miterere y'umubiri

Uretse imiterere y'isura, hari n'ibindi bintu byinshi bisanzwe ku mubiri:

• Kubyimba intoki cyangwa ibirenge.
• Imisumari ifite imiterere cyangwa ibara ridasanzwe.
• Ijosi rigufi n'umusatsi muke inyuma y'ijosi, birashoboka ko hari n'ubudodo ku mpande z'ijosi.
• Ubugufi bw'igihagararo (ubugufi bw'uburebure ukurikije imyaka).
• Isanduku yarohamye (pectus excavatum) cyangwa igufwa ryo mu gatuza risohoka (pectus carinatum).

Indwara z'umutima

Abana benshi barwaye indwara ya Noonan Syndrome bashobora kuba bafite indwara y'umutima bavukanye . Bamwe mu bana bashobora gukenera kuvurwa byihutirwa kuri iyi ndwara y'umutima. Abandi bashobora kutagaragaza ibimenyetso kugeza bakuze. Indwara z'umutima zikunze kugaragara ni izi:

• Ubusembwa bw'uturemangingo tw'amaraso mu gice cy'imbere cy'umutima.
• Hypertrophic cardiomyopathy.
• Stenosis y'imitsi y'ibihaha.

Ibindi bibazo bishoboka

Uretse ibi, Noonan Syndrome ishobora guteza izindi ngorane nyinshi:

• Urugero, kugorwa no guhumeka bitewe n'ubworoherane bw'agace k'imikaya (laryngomalacia).
• Lymphedema (kwiyongera k'amazi y'imitsi mu maboko cyangwa amaguru).
• Gutinda mu iterambere .
• Kuva amaraso menshi kuruta uko bisanzwe cyangwa gukomeretsa byoroshye.
• Ingorane zo kugaburira abana bakiri bato.
• Amasambu y'intanga atagaragara ku bahungu. Iyo atavuwe, ibi bishobora kugira ingaruka ku bibazo by'uburumbuke.
• Indwara ya Scoliose.
• Ibibazo byo kutabona cyangwa ubumuga bwo kutumva (ubumuga bwo kutumva).
• Ubusembwa bw'impyiko buterwa n'impyiko.

Ni izihe ngorane zindi zifitanye isano na Noonan Syndrome?

Abana benshi barwaye Noonan Syndrome bakura buhoro buhoro kurusha uko bisanzwe iyo bageze mu bwangavu. Ariko, bashobora kuvuka bafite uburebure busanzwe. Hafi 25% bafite ubumuga bwo kwiga. Umubare muto muri bo ushobora no kugira ubumuga bwo mu mutwe. Hagati ya 10% na 15% by'abana barwaye Noonan Syndrome bashobora gukenera uburezi bwihariye. Iyi ndwara ishobora kandi gutera gutinda mu mikurire, ibibazo by'imyitwarire, cyangwa ibibazo byo kuvuga.

Bamwe mu bana barwaye indwara ya Noonan Syndrome barwara kanseri y’imitsi yo mu bwoko bwa juvenile myelomonocytic leukemia (JMML) , ubwoko budasanzwe bwa kanseri y’imitsi iboneka mu bwana.Ibyago byo kurwara kanseri y'ibere cyangwa izindi kanseri zo mu bwana bishobora kwiyongera gato. Ariko, ibyago muri rusange bibazwa ko ari 4% ku myaka 20. Rero, ibuka ko ari ibyago bike cyane .

Indwara ya Noonan Syndrome ipimwa ite?

Muganga wawe ashobora gukeka ko afite indwara ya Noonan Syndrome nyuma yo kumusuzuma no gusuzuma ibimenyetso by'umwana wawe. Kugira ngo yemeze ko arwaye indwara kandi nta zindi ndwara afite, muganga wawe ashobora kukugira inama yo gupima imiterere y'umubiri .

Hari ibindi bizamini byinshi bishobora gukorwa kuri ibi:

• Ikizamini cy'umubare w'amaraso yuzuye (CBC).
• X-ray yo mu gituza.
• Isuzuma rya CT.
• Echocardiogram ni ikizamini kigenzura imikorere y'umutima.
• Ikizamini cya EKG (Electrocardiogram (EKG)).
• Isuzuma rya ultrasound.

Ese hari umuti wa Noonan Syndrome?

Oya, nta muti uhari wa Noonan Syndrome. Ariko ntugire ikibazo! Hari uburyo bwiza bwo kuvura bushobora kugufasha wowe n'umwana wawe guhangana n'ibimenyetso.

Indwara ya Noonan Syndrome ivurwa ite?

Itsinda ry'abaganga b'umwana wawe rizategura gahunda yo kuvura indwara ya Noonan Syndrome hashingiwe ku bimenyetso by'umwana wawe n'ubukana bwabyo. Umwana wawe ashobora guhabwa ubuvuzi nk'ubu:

• Ibikoresho byo gufasha: nk'indorerwamo cyangwa utwuma tw’amatwi.
• Uburyo bwo kuvura imyitwarire cyangwa imvugo .
• Inkunga y'uburezi ku bafite ubumuga bwo kwiga.
• Imiti ivura indwara z'umutima z'umwana, ibibazo byo kuva amaraso, cyangwa gukura buhoro .
• Uburyo bwo kuvura imisemburo ikura.
• Uburyo bwo kuvura nk'ubuvuzi bwo gukanda, butanga ubutabazi ku ndwara nka lymphedema.

Mu bihe bimwe na bimwe, muganga wawe ashobora kukugira inama yo kubagwa . Wibuke ko kumenya indwara hakiri kare ari ingenzi cyane kugira ngo uyivure neza kandi uyikurikirane.

Ni nde ushobora gushyirwa mu itsinda ry’abana banjye bavura indwara ya Noonan Syndrome?

Uretse muganga w’abana, itsinda ry’abaganga rishinzwe kwita ku buzima bw’umwana wawe rishobora kuba ririmo inzobere nka:

• Inzobere mu kuvura imitsi n'amaraso.
• Umuganga w’inzobere mu bijyanye n’imitsi (ubwonko, uruti rw’umugongo, n’imitsi) (Umuganga w’indwara z’imitsi).
• Umuganga w'indwara za kanseri.
• Inzobere mu by'amaso.
• Inzobere mu by'imiterere y'ibinyabuzima.
• Inzobere mu by'umutima.
• Inzobere mu by'imiti ikoreshwa mu ngirabuzimafatizo.
• Inzobere mu by'imitsi.
• Inzobere mu by'uruhu (inzobere mu by'uruhu, umusatsi n'inzara).

Itsinda ry’abashinzwe kwita ku mwana wawe rizagusaba uburyo bwiza bwo kuvura. Bazanakurikirana uburwayi bw’umwana wawe kandi bakore impinduka zikenewe ku miti cyangwa uburyo bwo kuvura, bitewe n’uko umwana ameze n’ingaruka mbi afite.

Ese hari icyo nakora kugira ngo ngire ibyago byo kurwara indwara ya Noonan Syndrome ku mwana wanjye?

Oya. Nta kintu na kimwe wakora kugira ngo ugabanye ibyago byo kurwara indwara ya Noonan Syndrome. Iterwa n'impinduka mu miterere y'uturemangingo . Ariko, niba hari umuntu wo mu muryango wawe ufite indwara ya Noonan Syndrome, ushobora kuvugana na muganga wawe ku bijyanye no gupima imiterere y'uturemangingo mbere yo gutwita, ibyo bikaba byakorwa mu gihe utwite .

Ejo hazaza h'abantu bafite indwara ya Noonan Syndrome ni he?

Abantu benshi barwaye Noonan Syndrome babaho ubuzima bwiza kandi bwigenga.

Itsinda ryita ku mwana wawe rizakorana nawe mu rwego rwo gucunga ibimenyetso by'umwana wawe no gukumira ingorane. Rero, ni ngombwa gukomeza kugira icyizere.

Ni ryari ugomba gushaka inama kwa muganga ku ndwara ya Noonan Syndrome?

Niba indwara ya Noonan itera indwara ikomeye y'umutima yavukanye , kubagwa no gukomeza gukurikiranwa bishobora kuba ngombwa kugira ngo umwana wawe agire ubuzima bwiza kandi agire umutekano. Muganga wawe ashobora kuganira nawe uburyo bwo kuvurwa ako kanya no mu gihe kirekire.

Ni ibisanzwe kumva ufite ubwoba iyo umwana uvutse cyangwa umwana ukura asuzumwe na muganga. Ariko, abana benshi basanzwe barwaye indwara ya Noonan Syndrome bafite ibimenyetso byoroheje . Kandi bakomeza kubaho ubuzima bwuzuye kandi burangwa n'imyitozo ngororamubiri. Vugana na muganga wawe ku bijyanye n'ubuvuzi bwiza cyangwa uburyo buhoraho bwo kwita ku mwana wawe bujyanye n'ibyo akeneye. Guvurwa hakiri kare bishobora kugufasha kugabanya imihangayiko no gufasha umwana wawe kugera ku musaruro mwiza ushoboka w'ubuzima.

Reka twibuke ibintu by'ingenzi cyane (Ubutumwa bwo kujyana mu rugo)

Sawa, reka dusubiremo ingingo z'ingenzi cyane mu byo twavuzeho:

• Indwara ya Noonan ni indwara iterwa n'uturemangingo .
• Ibimenyetso byabyo biratandukanye , bimwe ni byoroheje, ibindi bikaba bikomeye gato.
• Ushobora kubona ibintu nk'imiterere yihariye yo mu maso, uburebure bugufi, n'indwara z'umutima.
• Nubwo nta muti wuzuye uhari, hari uburyo bwiza bwo kuvura ibimenyetso .
• Ni ingenzi cyane gusuzuma indwara no gutangira kuyivura hakiri kare .
• Itsinda ry'abaganga b'inzobere rizafasha umwana wawe.
• Abana benshi barwaye indwara ya Noonan Syndrome babaho ubuzima bwiza kandi burangwa n'ibyishimo .

Niba umwana wawe afite ibi bimenyetso, ntugatinye, jya kwa muganga vuba bishoboka kandi umugire inama. Azaguha ubufasha bwose ukeneye.

Indwara ya Noonan , indwara z’uturemangingo, indwara z’umutima zavukanye, gutinda mu mikurire, imiterere y’isura, ubuzima bw’abana, gupima uturemangingo