{"id":89,"date":"2023-05-10T20:47:18","date_gmt":"2023-05-10T20:47:18","guid":{"rendered":"https:\/\/skeletaldysplasia-dev-001.azurewebsites.net\/en-us\/?page_id=89"},"modified":"2023-08-18T06:19:20","modified_gmt":"2023-08-18T06:19:20","slug":"confirming-a-diagnosis","status":"publish","type":"page","link":"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/confirming-a-diagnosis\/","title":{"rendered":"Confirming a Diagnosis"},"content":{"rendered":"<div id=\"acf-block-649d5b92889b4\" class=\"simple-hero\">\n        <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t\t\t\t\t\t\t\t\t\t    <h1>Confirming a Diagnosis\n<\/h1>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"how-is-skeletal-dysplasia-diagnosed\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64615e0e99069\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">How is skeletal dysplasia diagnosed?<\/h2>\n<p style=\"text-align: center\">Some forms of skeletal dysplasia may be seen before a child is born. In those cases, the doctor may make an initial diagnosis of skeletal dysplasia based on an ultrasound. After birth, the most common way doctors diagnose skeletal dysplasia is through a skeletal survey, or a series of X-rays of the body. However, X-rays do not always provide a complete picture of a child&#8217;s diagnosis.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-646a897ee0259\" class=\"block call-to-action content-reverse\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\" style=\"\">\n\t\t\t\t<div class=\"overlay\"><\/div>\n\t\t\t\t<div class=\"cta-content\">\n\t\t\t\t                            <div class=\"cta-image\">\n                            <img decoding=\"async\" class=\"\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/05\/Call-out-1_M@2x.png?v=0.23\" alt=\"Infographic of ribcage x-ray related to skeletal dysplasia diagnosis\" \/>                        <\/div>\n                    \t\t\t\t\t<div class=\"cta-content-main\">\n                        <div class=\"content-block\">\n\t\t\t\t\t        \t\t\t\t\t            <p class=\"pretitle\">DID YOU KNOW?<\/p>\n\t\t\t\t\t        \t\t\t\t\t        \t\t\t\t\t\t        <h2 class=\"h3\"><strong>A skeletal survey alone misses a clear diagnosis in 30% of skeletal dysplasia cases.<\/strong>\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t\t        <p>Some types of skeletal dysplasia can look very similar to one another on an X-ray image.<\/p>\n\t\t\t\t\t\t    \t\t\t\t\t    <\/div>\n\t\t\t\t\t                        <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"why-is-skeletal-dysplasia-difficult-to-diagnose\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64615e0e995af\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">Why is skeletal dysplasia difficult to diagnose?<\/h2>\n<p style=\"text-align: center\">Patients can often go years without a complete diagnosis. Without additional testing, skeletal dysplasia can be difficult to fully diagnose and can often go underdiagnosed for several years. This can interfere with a child getting the right management plan for their specific type of skeletal dysplasia.<\/p>\n<p style=\"text-align: center\">Let\u2019s look at some of the reasons why skeletal dysplasia can be challenging to diagnose:<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-64615e0e997e0\" class=\"block cards cards-3-col block-tight-bottom\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"cards-title\">\n\t\t\t    \t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"cards-wrapper\">\n\t\t\t    \n<div id=\"acf-block-64615e0e99cf8\" class=\"card card-product\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/06\/2.0-A@2x-OW-v0.2.png?v=0.23\" alt=\"Icon of cards including common skeletal dysplasia types like achondroplasia\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>There are more than 450 types of skeletal dysplasia, from common types like achondroplasia to less common forms like spondyloepiphyseal dysplasia congenita.\n<\/h4>\n        \n                                                            <\/div>\n<\/div>\n\n<div id=\"acf-block-64615e0e99d53\" class=\"card card-product\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/06\/Card-2-Icon@2x-OW-v0.2.png?v=0.23\" alt=\"Icon of Venn diagram illustrating overlapping skeletal dysplasia symptoms and conditions\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Many of these disorders have overlapping signs and symptoms, and some may occur at the same time as other skeletal conditions like bilateral Legg-Calv\u00e9-Perthes disease.\n<\/h4>\n        \n                                                            <\/div>\n<\/div>\n\n<div id=\"acf-block-64615e0e99dac\" class=\"card card-product\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/06\/Card-3-Icon@2x-OW-v0.2.png?v=0.23\" alt=\"Icon of skeletal system encouraging skeletal dysplasia testing\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>It can be difficult to pinpoint the underlying cause and the specific type of skeletal dysplasia without testing.\n<\/h4>\n        \n                                                            <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-64615e0e9b55b\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64615e0e9b5ac\" class=\"block-wysiwyg\">\n            <p style=\"text-align: center\">For these reasons, reaching a confirmed diagnosis can take years for some children, making it difficult to choose the right path forward.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"kobes-diagnosis-story\" class=\"block wrapped-content block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64615e0e9b632\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">Kobe\u2019s diagnosis story<\/h2>\n<p style=\"text-align: center\">It took 9 years of searching for answers for Kobe to receive a confirmed diagnosis:<\/p>\n    <\/div>\n\n<figure id=\"acf-block-64617363c7b26\">\n    <div class=\"image image-responsive image-rounded image-align-left\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/05\/Kobes-story-Image-D.png?v=0.23\" alt=\"Infographic showing child with skeletal dysplasia misdiagnosis\" \/>\t\t\t<\/div>\n\t\t\t<div class=\"image-mobile\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/06\/Kobes-story_M.png?v=0.23\" alt=\"Infographic showing child with skeletal dysplasia misdiagnosis\" \/>\t\t\t<\/div>\n            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64615e0e9b632\" class=\"block-wysiwyg\">\n            <p style=\"text-align: center\">A skeletal dysplasia gene panel may have changed Kobe&#8217;s diagnosis timeline and his management plan.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-646a897ee1ba5\" class=\"block call-to-action call-to-action-no-bg\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\" style=\"\">\n\t\t\t\t<div class=\"overlay\"><\/div>\n\t\t\t\t<div class=\"cta-content\">\n\t\t\t\t                            <div class=\"cta-image\">\n                            <img decoding=\"async\" class=\"\" src=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2023\/06\/READABOUTDIAGOSIS_Icon.svg\" alt=\"Icon of book to encourage learning more about skeletal dysplasia diagnosis\" \/>                        <\/div>\n                    \t\t\t\t\t<div class=\"cta-content-main\">\n                        <div class=\"content-block\">\n\t\t\t\t\t        \t\t\t\t\t        \t\t\t\t\t\t    \t\t\t\t\t\t        <h3>Learn about gene panel testing for skeletal dysplasia <\/h3>\n\t\t\t\t\t\t    \t\t\t\t\t    <\/div>\n\t\t\t\t\t                                <div class=\"content-block\">\n                                <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/skeletal-dysplasia.biomarin.com\/en-us\/about-genetic-testing\/\" target=\"_self\">About genetic testing<\/a><\/p>\n                            <\/div>\n\t\t\t\t\t                        <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-89","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diagnosing Skeletal Dysplasia | SD Answers<\/title>\n<meta name=\"description\" content=\"More than 450 types of skeletal dysplasia exist, making it difficult to diagnose. 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