{"id":17661,"date":"2025-10-23T09:00:00","date_gmt":"2025-10-23T13:00:00","guid":{"rendered":"https:\/\/www.ptcbio.com\/?p=17661"},"modified":"2025-10-22T16:50:53","modified_gmt":"2025-10-22T20:50:53","slug":"a-familys-path-to-hope","status":"publish","type":"post","link":"https:\/\/www.ptcbio.com\/posts\/a-familys-path-to-hope\/","title":{"rendered":"A Family\u2019s Path to Hope\u00a0"},"content":{"rendered":"\n<p class=\"core-block core-paragraph\">Simone was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency when he was 12 months old. AADC deficiency is a rare, life-limiting genetic disorder that can cause severe disability from the first months of life and can impact the entire family.&nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">For Simone\u2019s parents, Sabrina and Sebastiano, the path to getting the diagnosis was difficult and distressing \u2013 Simone was exhibiting uncommon behaviors like rigidity in his arms, hypotonia and episodes of involuntary eye movements, known as oculogyric crisis. The family was determined to find answers.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Learn more about the family\u2019s incredible journey:&nbsp;<\/p>\n\n\n\n<div style=\"padding:56.25% 0 0 0;position:relative;\"><iframe src=\"https:\/\/player.vimeo.com\/video\/1129670276?h=bc5c6088cc&amp;badge=0&amp;autopause=0&amp;player_id=0&amp;app_id=58479\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture; clipboard-write; encrypted-media; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" style=\"position:absolute;top:0;left:0;width:100%;height:100%;\" title=\"Simone AADC Journey - Unbranded\"><\/iframe><\/div><script src=\"https:\/\/player.vimeo.com\/api\/player.js\"><\/script>\n","protected":false},"excerpt":{"rendered":"<p>Simone was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency when he was 12 months old. AADC deficiency is a rare, life-limiting genetic disorder that can cause severe disability from the first months of life and can impact the entire family.&nbsp; For Simone\u2019s parents, Sabrina and Sebastiano, the path to getting the diagnosis was difficult&hellip;<\/p>\n","protected":false},"author":14,"featured_media":17663,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[19,60],"tags":[],"media-type":[12],"therapeutic-area":[18],"class_list":["post-17661","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-disease-community","category-rare-journeys"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>A Family\u2019s Path to Hope\u00a0 - PTC Therapeutics (United States)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ptcbio.com\/posts\/a-familys-path-to-hope\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A Family\u2019s Path to Hope\u00a0\" \/>\n<meta property=\"og:description\" content=\"Simone was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency when he was 12 months old. AADC deficiency is a rare, life-limiting genetic disorder that can cause severe disability from the first months of life and can impact the entire family.&nbsp; For Simone\u2019s parents, Sabrina and Sebastiano, the path to getting the diagnosis was difficult&hellip;\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.ptcbio.com\/posts\/a-familys-path-to-hope\/\" \/>\n<meta property=\"og:site_name\" content=\"PTC Therapeutics (United States)\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/PTCTherapeutics\" \/>\n<meta property=\"article:published_time\" content=\"2025-10-23T13:00:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.ptcbio.com\/wp-content\/uploads\/sites\/2\/2025\/10\/Simone-AADCd.png\" \/>\n\t<meta property=\"og:image:width\" content=\"466\" \/>\n\t<meta property=\"og:image:height\" content=\"262\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"pmorgan\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@PTCBio\" \/>\n<meta name=\"twitter:site\" content=\"@PTCBio\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"pmorgan\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/\"},\"author\":{\"name\":\"pmorgan\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#\\\/schema\\\/person\\\/0a54403edd07f283cef732a53d24e1b8\"},\"headline\":\"A Family\u2019s Path to Hope\u00a0\",\"datePublished\":\"2025-10-23T13:00:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/\"},\"wordCount\":103,\"publisher\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.ptcbio.com\\\/wp-content\\\/uploads\\\/sites\\\/2\\\/2025\\\/10\\\/Simone-AADCd.png\",\"articleSection\":[\"Rare Disease Community\",\"Rare Journeys\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/\",\"url\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/\",\"name\":\"A Family\u2019s Path to Hope\u00a0 - PTC Therapeutics (United States)\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.ptcbio.com\\\/wp-content\\\/uploads\\\/sites\\\/2\\\/2025\\\/10\\\/Simone-AADCd.png\",\"datePublished\":\"2025-10-23T13:00:00+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#primaryimage\",\"url\":\"https:\\\/\\\/www.ptcbio.com\\\/wp-content\\\/uploads\\\/sites\\\/2\\\/2025\\\/10\\\/Simone-AADCd.png\",\"contentUrl\":\"https:\\\/\\\/www.ptcbio.com\\\/wp-content\\\/uploads\\\/sites\\\/2\\\/2025\\\/10\\\/Simone-AADCd.png\",\"width\":466,\"height\":262,\"caption\":\"Rare Journeys - Simone - AADCd\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/a-familys-path-to-hope\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/www.ptcbio.com\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"A Family\u2019s Path to Hope\u00a0\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#website\",\"url\":\"https:\\\/\\\/www.ptcbio.com\\\/\",\"name\":\"PTC Therapeutics, Inc.\",\"description\":\"Translating Science. 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