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Bebê de um ano tem o primeiro diagnóstico de Lowe em Rondônia 2z371d

5f3o

Gazeta Rondônia
28/06/2022 23h02 - Atualizado em 28/06/2022 às 23h02

Com pouco mais de um ano, o pequeno Nicolas Mariano foi diagnosticado com a síndrome de Lowe, uma doença genética rara e sem cura. Segundo a Agência Estadual de Vigilância em Saúde (Agevisa), este é o primeiro caso de Lowe do estado.

A mãe de Nicolas, Edilene Souza, de 34 anos, relatou as dificuldades que enfrenta após descobrir a condição do filho, entre elas: a falta de conhecimento por parte dos médicos locais, rotina puxada e questões financeiras. Confira:

 

A gravidez x3k67

 

Segundo Edilene, a gestação não foi planejada. Apesar disso, ao longo dos quase nove meses ele sempre esteve saudável. O bebê nasceu com 39 semanas e pesando mais de 3 quilos.

"Fiz o pré-natal todo certinho, todos os exames que pediram, nunca tive nem anemia e nunca viram nada de anormal", contou.

O primeiro susto veio assim que o menino nasceu. Durante um teste nos olhos, os médicos identificaram que ele tinha catarata congênita e, por este motivo, não enxergava. Foi assim que, com menos de um mês, Nicolas ou pela primeira cirurgia.

 

"Foi uma cirurgia bem sucedida, mas ele não enxerga normal. Hoje ele usa óculos de 20 graus. Sem óculos ele consegue enxergar em torno de 20% a 30%", aponta a mãe.

 

Diagnóstico 5y1l

 

Quando Nicolas já estava com três meses, a mãe começou a perceber que ele parecia não se desenvolver como outras crianças: seu corpo era "molinho" e ele ainda não conseguia sustentar a cabeça.

De pediatra, até neurologista e geneticista, o bebê ou por uma série de exames até que enfim foi diagnosticado com a Síndrome de Lowe. Na época ele já estava com um ano e três meses de idade. Desde então, seus pais lutam com o desconhecido e outras dificuldades.

 

"O meu mundo caiu naquele momento. Eu nunca tinha visto algo desse jeito, nunca tinha ouvido falar desse nome na minha vida [Lowe]. Eu não comia, não dormia, só chorava, eu não conseguia me conformar com aquilo", relembra Edilene.

 

Quando "a ficha caiu", os pais começaram a buscar ajuda médica para tratar o Nicolas e se depararam com um dos principais problemas: a falta de conhecimento também por parte dos médicos.

"Eu fico muito insegura quando eu chego no médico e falo que meu filho é portador de Lowe e o médico fala pra mim: 'o que é isso" data-formato="790x90" data-posicao="3" id="ads-790x90-3" class="wjs-ads ads-790x90-3 ads_banner_content">


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midLength=parseInt(content.length/2);content.eq(midLength).after(banner_midle_text);}} NewsInfinit={init:function(id,id_cat){var page=0;const loading=document.querySelector('.loader');const endPost=document.getElementById('NewsInfinitEnd');const endSide=document.getElementById('NewsInfinitSidebarEnd');function showLoading(id,id_cat){loading.classList.add('show');setTimeout(()=>{loading.classList.remove('show') setTimeout(()=>{page++;NewsInfinit.getPosts(id,id_cat,page);},300);},1000)} document.addEventListener("DOMContentLoaded",()=>{let options={root:null,rootMargins:"0px",threshold:0.5};const observer=new IntersectionObserver(handleIntersect,options);observer.observe(endPost);getData();const observer2=new IntersectionObserver(handleIntersect2,options);observer2.observe(endSide);});function handleIntersect(entries){if(entries[0].isIntersecting){getData();}} function handleIntersect2(entries){if(!$("#stopSidebar").length){if(entries[0].isIntersecting){}}} function 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