{"id":3643,"date":"2020-09-15T17:53:22","date_gmt":"2020-09-15T22:53:22","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=3643"},"modified":"2024-02-09T14:24:30","modified_gmt":"2024-02-09T14:24:30","slug":"kaya","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/individuals-with-lgmd-interviews\/2020\/09\/15\/kaya\/","title":{"rendered":"INDIV\u00cdDUO COM LGMD: Kaya"},"content":{"rendered":"
\"\"<\/figure><\/div>\n\n\n\n

LGMD \"ENTREVISTA EM DESTAQUE\" <\/strong><\/p>\n\n\n\n

Nome<\/strong>: Kaya                           Idade<\/strong>: 18 anos de idade<\/p>\n\n\n\n

Pa\u00eds<\/strong>: Holanda<\/p>\n\n\n\n

LGMD Sub-tipo<\/strong>: LGMD 2D\/ R3 Alfa relacionado com o Sarcoglicano<\/p>\n\n\n\n

Com que idade foi diagnosticado<\/strong>: <\/p>\n\n\n\n

Penso que deve ter sido por volta do meu terceiro anivers\u00e1rio, embora n\u00e3o me possa dizer que me lembre de muito disso. O diagn\u00f3stico foi muito precoce.<\/p>\n\n\n\n

Quais foram os seus primeiros sintomas<\/strong>:<\/p>\n\n\n\n

Nasci praticamente em simult\u00e2neo com a minha irm\u00e3 e o meu primeiro sintoma manifestou-se quando comecei a gatinhar. A minha irm\u00e3, que \u00e9 saud\u00e1vel, gatinhava como uma crian\u00e7a normal, enquanto eu gatinhava de uma forma estranha, com uma perna \u00e0 frente da outra, basicamente arrastando-me. Um acupunctor e grande amigo da fam\u00edlia apercebeu-se disso e avisou a minha m\u00e3e, da\u00ed o meu diagn\u00f3stico precoce. Outro sintoma que se desenvolveu um pouco mais tarde foi o facto de eu cair. Isto manifestou-se quando comecei a ir \u00e0 escola e estava a tentar acompanhar os meus colegas. Depois de receber a terapia gen\u00e9tica atrav\u00e9s de um ensaio cl\u00ednico, este \u00faltimo sintoma diminuiu muito, ao ponto de n\u00e3o cair h\u00e1 cerca de dois anos, o que suponho ser um resultado que a maioria das pessoas saud\u00e1veis n\u00e3o consegue reproduzir.<\/p>\n\n\n\n

Tem outros familiares que sofrem de LGMD:<\/strong><\/p>\n\n\n\n

N\u00e3o, sou o \u00fanico na minha fam\u00edlia.<\/p>\n\n\n\n

Quais s\u00e3o, na sua opini\u00e3o, os maiores desafios de viver com a LGMD?<\/strong>:<\/p>\n\n\n\n

Para mim, viver com a LGMD significa continuar a lutar. Fa\u00e7o exerc\u00edcio todos os dias. Apenas as coisas b\u00e1sicas, como duas vezes cinco minutos de crosstraining, duas vezes um minuto de prancha, etc. E h\u00e1 dias em que \u00e9 dif\u00edcil manter um esp\u00edrito positivo e encontrar a motiva\u00e7\u00e3o para trabalhar tanto como tenho feito. Cada um tem uma forma diferente de lutar contra a LGMD, a minha forma \u00e9 uma abordagem bastante literal e direta e tem-me servido bem at\u00e9 agora. Mas uma atitude como esta tem um pre\u00e7o, pois n\u00e3o \u00e9 partilhada com as pessoas da minha idade, o que me deixa com dificuldades em encontrar qualquer liga\u00e7\u00e3o com elas e me coloca em isolamento social, mesmo antes de qualquer confinamento por causa do Coronav\u00edrus.<\/p>\n\n\n\n

Qual \u00e9 a sua maior realiza\u00e7\u00e3o<\/strong>:<\/p>\n\n\n\n

Ainda aqui estou e estou a ficar mais forte do que alguma vez fui. Como j\u00e1 foi referido, recebi terapia gen\u00e9tica num ensaio cl\u00ednico. Depois deste tratamento, comecei a trabalhar para p\u00f4r o meu corpo onde eu queria que estivesse. Trabalhei arduamente antes do ensaio para minimizar quaisquer danos, o que \u00e9 bastante dif\u00edcil para um jovem rapaz que tem de ser sempre respons\u00e1vel e tomar muitos suplementos que nem sempre s\u00e3o conhecidos por serem palat\u00e1veis. Dizer que venci a LGMD \u00e9 prematuro e, por isso, insensato, mas \u00e9 com todo o gosto que afirmo que estou atualmente a saud\u00e1-la com um dedo.<\/p>\n\n\n\n

Como \u00e9 que a LGMD o influenciou a tornar-se a pessoa que \u00e9 hoje?<\/strong><\/p>\n\n\n\n


Enquanto jovem, a LGMD obrigou-me a ser muito respons\u00e1vel, pois com cada movimento errado podia cair e partir alguma coisa. Tamb\u00e9m me obrigou a dar tudo o que tenho e a fazer o melhor que posso e a lutar contra o imposs\u00edvel. Tamb\u00e9m me fez apreciar a vida e todos os bons momentos que vivi. Influenciou os meus valores e as minhas prioridades. Todas estas influ\u00eancias podem ser vistas manifestadas em tudo o que me define, desde a m\u00fasica que ou\u00e7o e fa\u00e7o e a minha \u00e9tica de trabalho na escola at\u00e9 ao tipo de pessoas com quem gosto de estar.<\/p>\n\n\n\n

O que quer que o mundo saiba sobre a LGMD<\/strong>:<\/p>\n\n\n\n

Quero que o mundo saiba que as pessoas est\u00e3o a trabalhar incansavelmente para nos ajudar. Vi os enormes laborat\u00f3rios e instala\u00e7\u00f5es que est\u00e3o a ser utilizados para conseguir a cura definitiva e constatei em primeira m\u00e3o que est\u00e3o a trabalhar em coisas muito boas. Gostaria de aliviar o vosso desespero e dizer que o campo est\u00e1 a avan\u00e7ar a um ritmo incr\u00edvel. E um dia, garanto-vos, haver\u00e1 um telefonema a dizer: \"Ol\u00e1, acho que tenho algo para si\".<\/p>\n\n\n\n

Se a sua LGMD pudesse ser \"curada\" amanh\u00e3, qual seria a primeira coisa que gostaria de fazer?<\/strong>:<\/p>\n\n\n\n

Penso que seria oportuno dar os parab\u00e9ns a todos os antigos membros do LGMD e aos fant\u00e1sticos investigadores.<\/p>\n\n\n\n

Para ler mais \"LGMD Spotlight Interviews\" ou para se voluntariar para ser apresentado numa pr\u00f3xima entrevista, visite o nosso site em: http:\/\/lgmd-info.org\/spotlight-interviews<\/a><\/p>","protected":false},"excerpt":{"rendered":"

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