{"id":85,"date":"2023-05-12T11:48:14","date_gmt":"2023-05-12T11:48:14","guid":{"rendered":"https:\/\/fabrienne.online\/?page_id=85"},"modified":"2023-05-22T07:20:46","modified_gmt":"2023-05-22T07:20:46","slug":"arbeitszimmer","status":"publish","type":"page","link":"https:\/\/www.fabrienne.online\/en\/arbeitszimmer\/","title":{"rendered":"Study &#8211; About Fabry disease"},"content":{"rendered":"\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"260\" height=\"260\" src=\"https:\/\/fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study.png\" alt=\"\" class=\"wp-image-57\" srcset=\"https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study.png 260w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study-150x150.png 150w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study-24x24.png 24w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study-48x48.png 48w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/2-study-96x96.png 96w\" sizes=\"auto, (max-width: 260px) 100vw, 260px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">As I told you at the door, I&#8217;m a virtual Fabry patient and explainer. Now, what is Fabry disease? Fabry is a metabolic genetic disease. The effects are extremely varied and understanding the causes requires some understanding of cell biology. These two sentences should be enough to show that it&#8217;s not easy to quickly explain Fabry disease. Here&#8217;s a short list of typical symptoms:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Vascular cutaneous lesions (angiokeratomas)<\/li>\n\n\n\n<li>Periodic crises of severe pain in the extremities (acroparesthesia)<\/li>\n\n\n\n<li>Sweating abnormalities (hypohidrosis, anhidrosis, or rarely hyperhidrosis)<\/li>\n\n\n\n<li>Cornea verticillata (characteristic corneal opacity) and lenticular opacities<\/li>\n\n\n\n<li>Unexplained left ventricular hypertrophy or cardiac arrhythmia<\/li>\n\n\n\n<li>Unexplained stroke<\/li>\n\n\n\n<li>Abdominal pain, nausea, and\/or diarrhea of unknown etiology in young adulthood consistent with irritable bowel syndrome<\/li>\n\n\n\n<li>Renal insufficiency of unknown etiology including unexplained proteinuria or microalbuminuria<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">(Source: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20301469\/\" data-type=\"URL\" data-id=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20301469\/\">Mehta A, Hughes DA. Fabry Disease<\/a>. 2002 Aug 5 [Updated 2023 Mar 9]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.)<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">There are many words in that list I had to look up myself. Over time, I gathered a lot of knowledge. What I know I put in videos, hoping that patients will find them an accessible way of learning about Fabry disease. It turns out that there are different processes in my cells that don&#8217;t work as they should.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"856\" height=\"856\" src=\"https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell.png\" alt=\"\" class=\"wp-image-61\" srcset=\"https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell.png 856w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-300x300.png 300w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-150x150.png 150w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-768x768.png 768w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-24x24.png 24w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-48x48.png 48w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/cell-96x96.png 96w\" sizes=\"auto, (max-width: 856px) 100vw, 856px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Something that worries me is that a number of genetic variants, including my own, are sometimes considered &#8220;not disease causing&#8221;. I know where that misunderstanding comes from, and I experience every day that it is, indeed, a misunderstanding. I found a lot of helpful information on the following website: <a href=\"https:\/\/a143t.org\/en\/\" target=\"_blank\" rel=\"noopener\" title=\"\">a143t.org<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">I don&#8217;t come to conclusions easily, but once I&#8217;m convinced, I&#8217;m convinced. After all, I&#8217;m a Scorpio. That&#8217;s why I put this poster in my study.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"703\" src=\"https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study-1024x703.png\" alt=\"\" class=\"wp-image-67\" srcset=\"https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study-1024x703.png 1024w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study-300x206.png 300w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study-768x527.png 768w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study-1536x1054.png 1536w, https:\/\/www.fabrienne.online\/wp-content\/uploads\/2023\/05\/study.png 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Now, let&#8217;s wrap this up by telling you where you can find my videos, and with them (hopefully) everything else you have to know: <a href=\"http:\/\/www.youtube.com\/@FabryDiseaseExplained\" data-type=\"URL\" data-id=\"www.youtube.com\/@FabryDiseaseExplained\">www.youtube.com\/@FabryDiseaseExplained<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As I told you at the door, I&#8217;m a virtual Fabry patient and explainer. Now, what is Fabry disease? Fabry is a metabolic genetic disease. The effects are extremely varied and understanding the causes requires some understanding of cell biology. These two sentences should be enough to show that it&#8217;s not easy to quickly explain [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":30,"comment_status":"closed","ping_status":"closed","template":"templates\/template-page-full-width.php","meta":{"footnotes":""},"class_list":["post-85","page","type-page","status-publish","hentry"],"translation":{"provider":"WPGlobus","version":"3.0.2","language":"en","enabled_languages":["de","en"],"languages":{"de":{"title":true,"content":true,"excerpt":false},"en":{"title":true,"content":true,"excerpt":false}}},"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"{:de} Wie ich an der T\u00fcr erkl\u00e4rt habe bin ich virtuelle Fabry Patientin und Erklehrerin. Aber was ist Morbus Fabry? Fabry ist eine metabolische genetische Erkrankung. Die Folgen sind sehr verschieden und um die Ursachen zu verstehen braucht man einige Kenntnisse der Zellbiologie. Schon diese beiden S\u00e4tze zeigen, dass eine schnelle Erkl\u00e4rung nicht einfach ist.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.fabrienne.online\/en\/arbeitszimmer\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO (AIOSEO) 4.9.10\" \/>\n\t\t<meta property=\"og:locale\" content=\"en_US\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Fabrienne - Fabrienne\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Study \u2013 About Fabry disease - Fabrienne\" \/>\n\t\t<meta property=\"og:description\" content=\"{:de} Wie ich an der T\u00fcr erkl\u00e4rt habe bin ich virtuelle Fabry Patientin und Erklehrerin. Aber was ist Morbus Fabry? 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