{"id":32543,"date":"2025-02-17T16:08:08","date_gmt":"2025-02-17T15:08:08","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=32543"},"modified":"2025-02-18T10:17:35","modified_gmt":"2025-02-18T09:17:35","slug":"plomet","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/en\/plomet\/","title":{"rendered":"Plomet: A story of hope, support, and advocacy for MECP2 Duplication Syndrome"},"content":{"rendered":"<p class=\"has-text-align-right\"><strong>Written by Julian (Aleix\u2019 Dad) <\/strong><\/p>\n\n<h2 class=\"wp-block-heading has-medium-font-size\">Our son Aleix, 9 years old, was diagnosed with MECP2 Duplication Syndrome at the age of 3. Most people can imagine that, for a parent, hearing that your child has been diagnosed with a severe or rare disease drastically changes your life and has a huge impact on everyone involved. <\/h2>\n\n<p>The first thing we did upon hearing Aleix\u2019s diagnosis was to look on the internet for information about MECP2 Duplication Syndrome. Of course, we found the worst cases, worst scenarios, and worst symptoms. A rare disease is as complex as a challenging study, even for highly intelligent doctors and researchers. When finding out your child has a severe syndrome, you are confronted with medical terms, words, and explanations that are simply not understandable and not known to non-doctors. The impact of having a child with a disability might be underestimated by many people. From our experience with Aleix, we can say that his disease causes significant emotional but also physical challenges. Research shows that providing constant care can lead to fatigue and health problems. Many parents also experience social isolation and difficulty balancing work and caregiving. <\/p>\n\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1920\" height=\"1080\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited.png\" alt=\"\" class=\"wp-image-32626\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited.png 1920w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited-300x169.png 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited-1024x576.png 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited-768x432.png 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-8-edited-1536x864.png 1536w\" sizes=\"(max-width: 1920px) 100vw, 1920px\" \/><\/figure>\n\n<p>In Plomet's story, a cute little bird unlike any other finds himself in need of help from his friends and family. We, as parents of children with rare diseases like Aleix, also find ourselves in desperate need of support. We have often felt the need to express what it means to care for a child with a rare disease. The struggles, the fears, but also the immense love and strength that comes with it. We wanted to create something that reflected not only our own experience but also a universal message: that we all need to support and care for each other. Plomet was born out of this desire to tell a story that speaks to children and adults alike, showing the importance of kindness, community, and the fact that everyone has a story worth telling. In the story, Plomet's friends come together to help him overcome challenges he can't face alone. This brings us to a crucial point: the importance of associations. <\/p>\n\n<div style=\"height:33px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-a89b3969 wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-background has-text-align-center wp-element-button\" href=\"https:\/\/anemeditors.com\/producte\/les-aventures-den-plomet\/\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Get your copy of Plomet in Catalan<\/strong><\/a><\/div>\n<\/div>\n\n<div style=\"height:33px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n<p>In the story of Plomet, a cute little bird who is different from others finds himself needing help from his friends and family. We, as parents of children with rare diseases like Aleix, also find ourselves in desperate need of support. We have often felt the need to express what it means to care for a child with a rare disease. The struggles, the fears, but also the immense love and strength that come with it. We wanted to create something that reflects not only our own experience but also a universal message: That we all need support and that caring for each other is essential. Plomet was born from this desire to tell a story that speaks to children and adults alike, showing the importance of kindness, community, and the fact that everyone has a story worth telling. In the story, Plomet\u2019s friends come together to help him overcome challenges that he cannot face alone. This brings us to a crucial point: the importance of advocacy groups. <\/p>\n\n<p>Two years ago, we felt the need to tell our story. We created a short documentary about Aleix and how his syndrome affects our lives. This documentary allowed us to connect with several families worldwide who also have a child diagnosed with MECP2 Duplication Syndrome. We got to know various associations and research teams dedicated to studying MECP2 Duplication Syndrome. One family we connected with, David and Caroline Covini from Vienna, initiated the European Association for MECP2, and DupMECP2. <\/p>\n\n<p>We have decided that 50% of the profits from the book sales will go to this association to support further research and provide necessary support for us and other families. Associations like DupMECP2 are, for us parents, also a gateway to doctors and research teams worldwide. Currently, several projects are running globally on possible treatments and cures for MECP2 Duplication Syndrome. The year 2024 was exciting for us, as, hopefully, the first clinical trials for the syndrome will give us good news in a few months. <\/p>\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1920\" height=\"1080\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited.jpg\" alt=\"\" class=\"wp-image-32616 lazyload\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited.jpg 1920w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited-300x169.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited-1024x576.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited-768x432.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/plomet-9-edited-1536x864.jpg 1536w\" data-sizes=\"(max-width: 1920px) 100vw, 1920px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 1920px; --smush-placeholder-aspect-ratio: 1920\/1080;\" \/><\/figure>\n\n<p>Awareness and fundraising are crucial for research teams to continue their search for a treatment or cure. Since his diagnosis, Aleix has been monitored at the Sant Joan de D\u00e9u hospital in Barcelona, where they have been conducting research on MECP2 Duplication Syndrome for several years. Therefore, we have decided that the other 50% of the benefits will be donated to the Sant Joan de D\u00e9u Hospital for their research on MECP2 Duplication Syndrome. <\/p>\n\n<p>Creating this book about Plomet was a journey in itself. We needed to find a writer, illustrator, mentor, publisher, and sponsor. Each played a crucial role, just like Plomet\u2019s friends. A big thanks to all who made it possible to create this touching story, a story that we believe every parent with a child with any kind of disability or disease can relate to and can be broadly used for social and educational purposes. It was a collective effort; through it, we experienced firsthand the power of coming together to create something meaningful and impactful. <\/p>\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"576\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2025\/02\/Plomet-12-edited-1024x576.jpg\" alt=\"\" class=\"wp-image-32606 lazyload\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 1024px; --smush-placeholder-aspect-ratio: 1024\/576;\" \/><\/figure>\n\n<p><strong>We are happy to share that, through this initiative, nearly 600 books have been sold within Andorra. From these sales, 1492 EUR of the profits will be donated to DupMECP2, a contribution dedicated to helping children suffering from MECP2 Duplication Syndrome. With its heartfelt story and meaningful message, we hope that this Catalan version of Plomet will inspire others to translate the book into their languages, as it carries a universal message of inclusion, support, and the power of community. <\/strong><\/p>\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>Written by Julian (Aleix's father) Our son Aleix, aged 9, was diagnosed with MECP2 gene duplication syndrome at the age of 3. Most people with [...]<\/p>","protected":false},"author":1,"featured_media":32720,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[174],"tags":[],"class_list":["post-32543","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-temoignage"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Plomet : une histoire d&#039;espoir, de soutien et de sensibilisation - DupMECP2<\/title>\n<meta name=\"description\" content=\"Cr\u00e9er ce livre sur Plomet a \u00e9t\u00e9 en soi un v\u00e9ritable parcours. Nous avons d\u00fb trouver un \u00e9crivain, un illustrateur, un mentor, un \u00e9diteur et un sponsor. Chacun a jou\u00e9 un r\u00f4le essentiel, tout comme les amis de Plomet. 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