Olá, sou a Constança e gosto de sorrir. Vivo em Lagos, Portugal   Nasci a 30 de Abril de 2018, no Algarve , e na altura os médicos surpreenderam os meus pais dizendo-lhes que eu era especial … durante os nove meses que estive na barriguinha da minha mãe eu era « apenas mais um bebé « .Os médicos , na altura não sabiam o que me tornava tão especial, parecia ser uma doença genética que ainda não conseguiam identificar. Nasci com microcefalia e o meu coração precisava de cuidados … Os meus pais , a minha mana Carlota e toda a minha família ficaram preocupados , mas tenho-lhes mostrado que sou uma valente . Fui diagnosticada em Novembro de 2019 com KAT6A, que é um Síndrome extremamente raro da mutação do gene KAT6A. Neste momento em todo o mundo somos pouco mais de 300 casos com este diagnóstico. Cada situação é única mas todas elas exigem uma intervenção terapêutica , educativa e médica que implica apoio de várias naturezas , muitas vezes dispendioso para as famílias . E por isso estou aqui … O valor de cada intensivo na Clínica CHS-Braga , tem um valor de 10mil euros , já fiz 6 intensivos com a ajuda de muitas pessoas , e foi assim que consegui iniciar o gatinhar ! Ainda não falo , não ando e dependo da mamã para tudo ! Para poder fazer o meu próximo intensivo , preciso da vossa ajuda , para que seja possível ganhar mais competências ! Com Gratidão @morningsmilewithconstanca  Hello i am Constança And i love to smile! I live in Lagos Portugal   I was born in 2018 , on thé 30 of April in the Algarve . At the time i was born , the doctors surprised my parents by telling them o was special !  At the time , They weren’t sure what made so special , it seemed to be genetic disorder That they still couldn’t identify . I was born With microcephaly , When i was 6 months old , i had heart surgery.My parents , my older sister and my family were very concerned and worried about me . However, I have showed them that I am a very strong little girl !  In November 2019 o was diagnosed with KAT6A, which is an extremely rare KAT6A gene mutation syndrome, of which there are only 350 known cases in the world . Each situation is unique, bet they all required therapeutic, educational , and medical intervention that involves support of various kinds , often expensive for our families. And this is why I am here …  At CHS-Braga , 8 weeks of treatment cost a total of 10.000.00€ I have already done 6 intensive treatments with the kind help of many many people , and that is how I started to learn how to crawl .  I am still not capable to walk or talk, I depend on my mommy’s help for everything. I need your help to be able to do my next intensive treatments in Braga . Where I hope to acquire more skills , such as talking , communicating and being more independent.  Love ❤️ Constança  @morningsmilewithconstanca

Anonymous

Filipa Lourenço

Barry Chinn

Henrik Winberg

Helena Silva

Márcio Schilling

Marike Borst

Coro Staccato

Lisboa Coro Rock

Filipa Ferreira Pinto Lourenço

Hugo Lino

Sou a Constança e tenho KAT6A uma doença rara

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Platform is iOS

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Sou a Constança e tenho KAT6A uma doença rara

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