{"id":424476,"date":"2024-11-12T17:12:35","date_gmt":"2024-11-12T17:12:35","guid":{"rendered":"https:\/\/www.saipantribune.com\/?p=424476"},"modified":"-0001-11-30T00:00:00","modified_gmt":"-0001-11-29T14:00:00","slug":"Chronic-stomach-pain-leads-to-a-rare-disease-diagnosis","status":"publish","type":"post","link":"https:\/\/www.saipantribune.com\/index.php\/Chronic-stomach-pain-leads-to-a-rare-disease-diagnosis\/","title":{"rendered":"Chronic stomach pain leads to a rare disease diagnosis"},"content":{"rendered":"<p>(BPT) &#8211; Stomach pain, nausea and brain fog can be uncomfortable to experience. Imagine living with these symptoms every day without knowing their cause or being able to manage and rid yourself of them.<\/p>\n<p>This was Aaron\u2019s experience; he spent decades living with debilitating, daily pain \u2014 sometimes so severe he needed to be hospitalized \u2014 before finally receiving an accurate medical diagnosis. Now, Aaron knows that he is living with familial chylomicronemia syndrome, or FCS, which is a rare, genetic condition that can lead to potentially life-threatening acute pancreatitis (painful inflammation of the pancreas).<\/p>\n<p><strong>Journey to<\/strong> <strong>diagnosis<\/strong><\/p>\n<p>\u201cAs a young kid, I would battle stomach pain so intense that it would cause me to miss school for weeks at a time,\u201d Aaron shares. He saw doctor after doctor and was repeatedly told to \u201ceat better and exercise more.\u201d<\/p>\n<p>\u201cI tried five different types of diets and kept food journals to show my doctors I was following their advice. But I still found no relief \u2014 I\u2019d have excruciating, crippling pain for four or five straight days over and over again with no relief.\u201d This lasted for decades.<\/p>\n<p>Aaron finally received an answer at age 36 when he was diagnosed with FCS.<\/p>\n<p><strong>Understanding FCS<\/strong><\/p>\n<p>During a doctor\u2019s appointment with a specialist, Aaron was told his triglyceride levels \u2014 a type of fat that the body uses as a source of energy \u2014 had been over 1,200 mg\/dL since his childhood. While healthy levels for adults are typically below 150 mg\/dL, levels higher than 500 mg\/dL are a sign of a common condition called severe hypertriglyceridemia (sHTG), which can lead to health complications such as damage to the pancreas.<\/p>\n<p>Triglyceride levels of more than 880 mg\/dL \u2014 like Aaron experiences \u2014 may be an indication of FCS, a rare, genetic form of sHTG. In addition to the risk of potentially life-threatening acute pancreatitis, people living with FCS also experience chronic health issues such as fatigue, brain fog and severe, recurrent abdominal pain.<\/p>\n<p>After 36 years of struggle, Aaron\u2019s diagnosis helped him make sense of his lifelong symptoms. \u201cThe first thing I felt upon receiving my diagnosis was validation that my pain had a real, medical cause.\u201d<\/p>\n<p><strong>Living with FCS<\/strong><\/p>\n<p>FCS can be associated with physical, mental, emotional and financial burdens, which can cause people to feel overwhelmed and have a significant impact on their quality of life. \u201cOn my best days, I feel like I have the flu \u2014 body aches, nausea, diarrhea, headache and a foggy brain. On my worst days, I&#8217;m hospitalized for two to three weeks with pancreatitis,\u201d explains Aaron.<\/p>\n<p>To help manage symptoms, people living with FCS must adhere to an extremely strict diet. This involves limiting daily fat intake to less than 15 to 20 grams \u2014 that\u2019s roughly equal to just one tablespoon of olive oil per day. \u201cI\u2019ve had to learn to adjust my social life so that events don\u2019t always revolve around food, and the unfortunate reality is that I just may not be able to participate,\u201d says Aaron.<\/p>\n<p>Raising awareness and aiding in earlier diagnosis of this rare disease is important to Aaron. His hope for the future is that people living with FCS don\u2019t feel the loneliness he lived with for too long. \u201cI\u2019ve made a conscious decision to not let having FCS control my outlook on life. I choose to be happy, and my hope in sharing my story is to normalize FCS so that the next person may not have to wait 36 years to find a diagnosis and won\u2019t feel so alone.\u201d<\/p>\n<p>The article shares the story of one person and may not be representative of all patient journeys. If you have questions about your health, speak with your doctor. To learn more about FCS and helpful resources, including taking a signs and symptoms quiz that can provide useful information to guide your discussion with a doctor, visit <a href=\"http:\/\/www.KnowYourTGs.com\" target=\"_blank\" rel=\"nofollow\">www.KnowYourTGs.com<\/a>.<\/p>\n<p><div>References:<\/div>\n<ol>\n<li>Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an &#8220;FCS score&#8221;. Atherosclerosis. 2018;275:265-272.<\/li>\n<li>Chyzhyk V, Brown AS. Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis. Trends Cardiovasc Med. 2020;30(2):80-85.<\/li>\n<li>Christian JB, Bourgeois N, Snipes R, Lowe KA. Prevalence of severe (500 to 2,000 mg\/dl) hypertriglyceridemia in United States adults. Am J Cardiol. 2011;107(6):891-897.<\/li>\n<li>Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. J Clin Lipidol. 2018;12(4):898-907.e2.<\/li>\n<\/ol>\n<div style=\"text-align: right;\">US-FCS-2400002 v1.0 11\/24<\/div>\n<\/p>\n<p> <img loading=\"lazy\" decoding=\"async\" class=\"alignleft\" src=\"https:\/\/www.saipantribune.com\/wp-content\/uploads\/images\/imgupload\/2ab659b071d002c7837400cb83e433ac.jpg\" width=\"480\" height=\"360\" \/><br \/>Chronic stomach pain leads to a rare disease diagnosis<\/p>\n","protected":false},"excerpt":{"rendered":"<p>(BPT) &#8211; Stomach pain, nausea and brain fog can be uncomfortable to experience. Imagine living&#8230;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-424476","post","type-post","status-publish","format-standard","hentry","category-local-news"],"_links":{"self":[{"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/posts\/424476","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/comments?post=424476"}],"version-history":[{"count":0,"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/posts\/424476\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/media?parent=424476"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/categories?post=424476"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.saipantribune.com\/index.php\/wp-json\/wp\/v2\/tags?post=424476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}