{"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>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>(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>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>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>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>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":[],"_links":{"self":[{"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/pages\/85","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/comments?post=85"}],"version-history":[{"count":12,"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/pages\/85\/revisions"}],"predecessor-version":[{"id":203,"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/pages\/85\/revisions\/203"}],"wp:attachment":[{"href":"https:\/\/www.fabrienne.online\/en\/wp-json\/wp\/v2\/media?parent=85"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}