{"id":60990,"date":"2025-04-08T11:18:06","date_gmt":"2025-04-08T15:18:06","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?p=60990"},"modified":"2025-04-14T13:08:21","modified_gmt":"2025-04-14T17:08:21","slug":"tomas-story-living-with-scn2a","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/2025\/04\/08\/tomas-story-living-with-scn2a\/","title":{"rendered":"The Erros’ Journey with SCN2A"},"content":{"rendered":"

The responses below were originally written in Spanish and translated using a third party service.<\/em><\/p>\n

What is your family like?<\/h3>\n

We are a family of five. Tomas is 18 years old and has two siblings: a 22-year-old boy and a 13-year-old girl.<\/p>\n

Somos una familia de 5 integrantes. Tomas tiene 18 a\u00f1os y tiene 2 hermanos: un var\u00f3n de 22 a y una ni\u00f1a de 13 a.<\/em><\/p>\n

What do you do for fun?<\/strong><\/h3>\n

For Tomas, it’s very important to have open spaces; he likes going to parks, the countryside, squares. He likes to walk, he likes to go for drives, he has a preference for the pool.<\/p>\n

Para Tomas es muy importante tener espacios abiertos, le gusta ir a los parques, al campo, plazas. Le gusta caminar, le gusta pasear en autom\u00f3vil, tiene predilecci\u00f3n por la piscina.<\/em><\/p>\n

Tell us about the biggest hardship you face.<\/b><\/h3>\n

Tomas is not independent in activities of daily living. The greatest difficulty is needing constant assistance for personal care and feeding.<\/p>\n

Tomas no es independiente para las actividades de la vida diaria. la mayor dificultad es necesitar asistencia permanente para el cuidado personal y la alimentaci\u00f3n.<\/em><\/p>\n

\"\"<\/b><\/h3>\n

What motivates you to participate in research? How has participating in research been helpful for you?<\/b><\/h3>\n

I believe it is extremely necessary to participate and help each other among all the affected families.<\/p>\n

Creo sumamente necesario participar y ayudarnos entre todas las familias afectadas.<\/em><\/p>\n

How do you feel you are helping Simons Searchlight<\/span> learn more about rare genetic changes?<\/strong><\/h3>\n

By sharing important data we can help other people through Simons Searchlight<\/span>.<\/p>\n

Compartiendo datos importantes podemos a ayudar a otras personas a traves de Simon.<\/em><\/p>\n

What is one question you wish researchers could answer about this genetic change?<\/b><\/h3>\n

I would like to know if it is possible to find some antigen therapy for Tomas’s genetic variant.<\/p>\n

Quisiera conocer si para la variante gen\u00e9tica de Tomas es posible encontrar alguna terapia ant\u00edgenica.<\/em><\/p>\n

What have you learned about your or your child\u2019s genetic condition from other families?<\/b><\/h3>\n

I learned the origin of the disease, that there are many genetic variants, with diverse clinical forms, with also different therapeutic responses, and that there are possibilities of developing antigen therapy at least for the most severe forms of the disease.<\/p>\n

Aprend\u00ed el origen de la enfermedad, que existen muchas variantes gen\u00e9ticas, con formas cl\u00ednicas diversas, con respuestas terap\u00e9uticas tambi\u00e9n distintas y que hay posibilidades de desarrollo de terapia ant\u00edgenica al menos para las formas m\u00e1s severas de la enfermedad.<\/em><\/p>\n

\"\"<\/p>\n

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?<\/b><\/h3>\n

My advice as Tomas’s mother is to trust that time can provide answers to our doubts. Learn to calm our fears. Don’t get ahead of yourself or think about the probable future. Enjoy the growth and development of our children every day. Giving them the tools and space they need and strengthening ties with their family, especially with their siblings, is essential. As time goes by, everything improves; at least in my experience, that’s the case.<\/p>\n

M\u00ed consejo como mam\u00e1 de Tomas, es confiar en que el tiempo pueda dar respuestas a nuestras dudas. Aprender a calmar los miedos. No adelantarse ni pensar en el futuro probable. disfrutar d\u00eda a d\u00eda el crecimiento y desarrollo de nuestros hijos. Darles las herramientas y los espacios necesarios y afianzar los v\u00ednculos con la familia y sobre todo con los hermanos es fundamental. A medida que pasa el tiempo todo mejora, al menos en m\u00ed experiencia es as\u00ed. <\/em><\/p>\n

How has Simons Searchlight<\/span> served as a resource for you and your family?<\/h3>\n

An information resource.<\/p>\n

Un recurso de informaci\u00f3n.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Discover the inspiring story of the Erros.<\/p>\n","protected":false},"author":28,"featured_media":60997,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[16],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60990"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=60990"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60990\/revisions"}],"predecessor-version":[{"id":61061,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60990\/revisions\/61061"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media\/60997"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=60990"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/categories?post=60990"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/tags?post=60990"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}