Rare chirwere zuva: apo kutambura hakunzwike

Chokwadi chekuuya kupasi nechirwere chisingawanzoitika chakakomberedzwa, muzviitiko zvakawanda, nemagariro, zvekurapa uye zvekusiiwa zvehurongwa. Kuzvarwa uine butterfly ganda, Morquio kana Moebius Syndrome, zvinoreva chekutanga kudiwa kwehutano uye kurapwa kwemishonga izvo zvisingawanzo kufukidza zvese zvinodiwa nemwana kana munhu mukuru.

Chimwe chinhu chinofanira kutariswa kushushikana kwainoita pavabereki, sekutarisana neichoicho chokwadi chemwana, uyo anofanira kurwira hupenyu nenzira yakanyanya, inorwadza, uko kushingirira kumwe nekumwe kunofanirwa kuve kwakawandisa uye uko mhuri , husiku humwe hunofanirwa kuve hunyanzvi muchirwere icho, zvinosuruvarisa, uye kunyangwe uchiziva kuti shanduko yayo ingave ipi, hapana mushonga. Muna Vanamai Nhasi tinoda kukukoka iwe kuti ufungisise nesu padambudziko iri: kudiwa kwekupa izwi rakawanda kuvanhu, kuvana vane zvirwere zvisingawanzoitika.

Zvirwere zvisingawanzo: kuve munzwa mugungwa remvura

Isu tinofunga chisingawanzo chirwere kana mwana achiuya munyika aine chirwere, kusagadzikana kana chirwere, icho chinongova munhu mumwe muvanhu zviuru zviviri anotambura. Ivo, sekutaura, minzwa midiki mumakungwa akadzikama emvura. Ivo vanove chaiwo chaizvo izvo zvinomanikidza vabereki navanachiremba vavo kuti vatsvage mareferenzi, ruzivo uye rutsigiro kuti vakwanise kupa yakanyanya tarisiro kumwana iyeye uyo, pamusoro pezvose, anofanirwa kuve nehunhu hwakanaka hwehupenyu.

Kuti uve nekuziva zvishoma nezvirwere zvisingawanzoitika, unofanirwa kutora ruzivo urwu.

• Kunyangwe pakutanga pekutaridzika kuchitaridzika kunge kwakasarudzika kunzwa nezvezvirwere zvakaita seOndine Syndrome, isu tinofanirwa kuziva kuti MuEurope chete, vanhu vanopfuura mamirioni makumi matatu vanotambura nechimwe chirwere chisingawanzoitika.
• Sekureva kwesangano reWorld Health Organisation (WHO), vanhu vangangosvika mamirioni mazana mashanu vari munyika vanotambura nechimwe chirwere chisingawanzoitika uye vamwe vazhinji vanogona kunge vachirwara nacho vasingazive.
• Kurwara, kurwadziwa, kusurukirwa, kutya uye kusava nechokwadi hazviite senge mwana chete. Mhuri zvakare kuwedzeredzwa kwevarwere ava, neicho, kukanganisa kwacho kwakanyanya.
• Zvirwere zvakajairika hazviwanzo kupa mhando imwe chete yezviratidzo, yakanyanya kuitika ndeyekuti inosanganisira akawanda maronda, shanduko nematambudziko, zvekuti kutarisirwa kwakawanda kwakawanda kunodiwar: vanachiremba, physiotherapists, vadzidzisi, masayendisiti, varapi vekutaura, varapi vemwoyo ...

Zvirwere zvisingawanzo muvana

Kana kubva kunzvimbo yedu isu tichida kukanganisa matambudziko ezvirwere zvisingawanzoitika muvana, imhaka yekukuvara kwavo kukuru, uye nekuti Muzviitiko zvakawanda, kana vakasagamuchira tarisiro yakakwana, mishonga nerutsigiro rwemagariro kubva kumasangano, chikamu chevana ava hachikure kuva vanhu vakuru.

• Mazhinji ezvirwere zvisingawanzo kuitika chirwere uye kupera simba. Hupenyu hwevana huri kuramba huchiwedzera, nemarwadzo, kusurukirwa uye kutambudzika kwakanyanya kwepamoyo kumhuri sezvavanoona kuti vana vavo havagone sei kuita hupenyu hwevamwe vana vezera ravo.
• Muzviitiko zvakawanda, vana ava vanotambura nezvirwere zvisingawanzoitika vanopedzisira vatambura nekuremara kwakakomba uko kwavanorasikirwa zvachose nekuzvitonga.
• Iko hakuna kurapa kunoshanda kwezvirwere izvi. Kazhinji yenguva, mishonga iripo inongodzora maitiro asi haimboirape.
• Iko kune pakati pezviuru zvitanhatu nezvisere zviuru zvisingawanzo zvirwere.
• Kune zviitiko zvevana vasingatombo gashira kuongororwa nekuti izvo zvinokonzera dambudziko ravo hazvizivikanwe zvachose.
• 75% yezvirwere zvisingawanzo kubata vana.
• 30% yevana vane chirwere chisingawanzo kufa vasati vasvitsa makore mashanu.
• 80% yezvirwere zvisingawanzove zvine hutachiona
• Dzimwe dzese dzezvirwere zvisingawanzo mhedzisiro yezvirwere uye chisimbwa zvinoitika kazhinji, mukati memakore mashanu ekutanga ehupenyu.

Zvirwere zvakajairika zvakanyanya muvana

• Fanconi anemia: Inowanzoonekwa iri pakati pemakore matatu neanomwe uye inoonekwa neakanyanya kushomeka kweanemia iyo inokonzeresa kuti mwana ave nematambudziko akakura ekukura: mupfupi, huremu hwekuzvarwa, kuremara, musoro mudiki nemaziso, kurasikirwa kwekunzwa ...
• Amyotrophic Lateral Sclerosis: icho chinodzikira neuromuscular chirwere icho chinosanganisira kutambura kukuru uye, zvinosuruvarisa, kuderera kunofambira mberi nerufu runenge rusingadzivisike. Kune kuora mitezo, uye mota mauroni anorasikirwa nebasa uye anova necrotic.
• Hosha yaHuntington: chimwe chirwere chine yakajeka majini chinhu chisina mushonga kunyangwe makore anga achionekwa. Iyo inogadzira matambudziko ekufamba, kugona uye kwepfungwa kukwana uye matambudziko emota.
• Ulcerative Colitis uye Chirwere chaCrohn: Zvinogona kunge zvisingaite kunge "zvakakomba" pakutanga kuona, asi ndeimwe yeakanyanya, anorwadza uye akajairwa autoimmune mamiriro pakati pevana vanoonekwa vaine zvisingawanzo zvirwere.
• Ataxia telangiectasia: Ichi chirwere chinotyisa nekuti vana vanopedzisira vangotarisa pamusoro peanopfuura makore masere kana mapfumbamwe ekuberekwa. Icho chirwere chemajini neurocutaneous chirwere apo matambudziko anoonekwa paganda uye pakati penheyo system.
• Niemann-Sarudza: chimwe chirwere chinosuwisa sekurwadza kwacho. Izvo zvinokonzeresa kuunganidzwa kwemafuta anoiswa muuropi, chiropa kana spleen. Mwana haakure sezvaanofanirwa kuita, ane pfari, uye haagone kutaura.
• Zvinodzvinyirira epidermolysis: isu tinowanzozviziva se «butterfly ganda». Icho chirwere chekuzvarwa nacho uko iko kushomeka kudiki neganda kunogadzira maronda uye mablister. Ganda rakakwenenzverwa, mavanga anoonekwa uye kunyangwe iko kudyisa kuri nyore kunogadzira kurwadziwa kwakanyanya.

Zvirwere zvisingawanzoitika: makuru akakanganikwa nemaindasitiri emishonga

Se "Spanish Federation of Rare Diseases" inotsanangurira isu kune chaiwo maratidziro emwana mumwe nemumwe, vabereki vanofanira kusangana nenzvimbo isingazive nezvechirwere ichi, uko nyanzvi dzisina ruzivo rwese uye kupie ivo vanomanikidzwa kuti vararame rwendo rusingaperi rwezvipatara, vanachiremba uye bvunzo dzisiri kugara dzichigutsa sekutarisira kunoita munhu.

Zvino ... izvi zvese zvinokonzerwa nei? Sei pasina mishonga inoshanda inowanika kuti "inonoke kufambira mberi" sezvakaitwa, semuenzaniso, nehutachiona hweAIDS?

• Iko hakuna mari. Zvirwere zvisingawanzo hazviwanzo batsira kuBig Pharma. 
• Iko hakuna chifukidzo chepamutemo chekukurudzira kutsvagiswa kwemajini.
• Tsvagurudzo yezvirwere zvisingawanzo kuwanikwa hazviwanzo kudyarwa

Chii chandingaite kana ndine mwana kana nhengo yemhuri ine chirwere chisingawanzoitika?

Chinhu chakanyanya kukosha patinogamuchira mashoko ekuti mwana wedu anorwara nechirwere chisingawanzo, kuzvifunga mupfungwa nechinangwa: umupe hupenyu hwakanaka, murwire, ita kuti chokwadi chayo chionekwe kuti chigadzire icho munguva pfupi inotevera, mushonga unogadzirwa unogona kubatsira mwanakomana wedu kana zvimwe zvisikwa mangwana.

Edza "kurarama zviripo" nemwana wako nekumuita kuti afare, kumubatanidza iye pasirese, munzanga, nevamwe vana uye nekumuita kuti atore chikamu zvakanyanya sezvinobvira muhupenyu. Kunyemwerera nhasi manzwiro akanaka akawanikwa, uye ichi chinhu chatinofanira kukudziridza mazuva ese.

Chinhu chakakosha chiri iva nerutsigiro rwemasangano nemasangano iyo yaunowana nayo ruzivo uye kuraira. Naizvozvo, usazeza kutora kero idzi dzezvinhu maererano nezvirwere zvisingawanzoitika.

• Nherera inzvimbo inotaurwa mitauro yakawanda pazvirwere zvisingawanzoitika uye mishonga pazvirwere zvitanhatu. Inopa akasiyana siyana masevhisi: zdc.ru
• PubMed inopa mukana wemagazini esainzi, uye zvinongedzo kunzvimbo zhinji dzine zvinyorwa zvemahara: ncbi.nlm.nih.gov
• NORD, Rare chirwere chisina purofiti sangano rakatsaurirwa kubatsira vanhu vanobatwa nezvirwere zvisingawanzo: rarediseases.org
• Chirwere InfoSearch chishandiso chekutsvaga pamhepo uye dhatabhesi yezvirwere zvemagetsi. irwo.ir
• Genetics Kumba Referensi inopa ruzivo pamusoro peanopfuura mazana matanhatu nemakumi mashanu ezvirwere zvemaranzi: ghr.nlm.nih.gov