{"id":132563,"date":"2025-08-09T20:11:37","date_gmt":"2025-08-09T20:11:37","guid":{"rendered":"https:\/\/www.europesays.com\/us\/132563\/"},"modified":"2025-08-09T20:11:37","modified_gmt":"2025-08-09T20:11:37","slug":"100-pound-3-year-old-diagnosed-with-rare-genetic-disorder","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/132563\/","title":{"rendered":"100-Pound 3-Year-Old Diagnosed With Rare Genetic Disorder"},"content":{"rendered":"<p>\t\t\t<img loading=\"lazy\" data-perfmatters-preload=\"\" width=\"1920\" height=\"1080\" src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/08\/frietag-family.jpg\" class=\"attachment-383267 size-383267 wp-post-image\" alt=\"\" decoding=\"async\"  \/><br \/>\n\t\t\t\tKaren Frietag\/Facebook\t\t\t<\/p>\n<p>People have a tendency to glance at a person out and about and make a snap judgment. They see a toddler <a href=\"https:\/\/littlethings.com\/lifestyle\/clever-dad-stops-temper-tantrums\" rel=\"nofollow noopener\" target=\"_blank\">throwing a tantrum <\/a>and think, \u201cCan\u2019t that mother control her kid?\u201d Or, say hello to a little boy who won\u2019t respond and assume, \u201cDidn\u2019t his mother teach him any manners?\u201d When in reality, that toddler having a tantrum was just exhausted and that \u201cunfriendly boy\u201d actually is <a href=\"https:\/\/littlethings.com\/uncategorized\/speech-language-therapist\" rel=\"nofollow noopener\" target=\"_blank\">nonverbal<\/a>. The point being: People are fighting battles we often can\u2019t see.<\/p>\n<p>When people saw 3-year-old, <a href=\"https:\/\/people.com\/3-year-old-weighed-100-lbs-genetic-condition-crying-always-hungry-11711157\" target=\"_blank\" rel=\"noreferrer noopener nofollow\">100-pound toddler Ben Frietag<\/a> of North Attleborough, Massachusetts, they made a lot of assumptions. His parents, Jonathan and Karen Frietag, certainly felt the judgment. But the truth was, the family was desperately struggling with their little boy and his \u201cbizarre\u201d eating habits.<\/p>\n<p>Ben was always hungry. He was so hungry in fact, that when his parents tried to do right by him and limit his intake, he\u2019d sit by the pantry and sob. <\/p>\n<p id=\"mntl-sc-block_8-0\">\u201cIt was heartbreaking,\u201d Karen Freitag, told People. \u201cIt was so hard watching him because you could just tell he was hungry, and he would just cry.\u201d<\/p>\n<p>By 2 years old, he weighed 65 pounds, by 3 he was at almost 100 pounds. It completely hindered his young life. He could not crawl, was too big for age-appropriate diapers, and generally lived in constant discomfort.<\/p>\n<p>His parents set out on a quest to figure out exactly what was causing his insatiable hunger. After countless tests, bloodwork, and three endocrinologists, the doctors at Massachusetts General Hospital asked the family if they would be open to genetic testing related to obesity.<\/p>\n<p>It was then doctors found Ben had a leptin deficiency, a hormone that regulates hunger. <a href=\"https:\/\/rarediseases.org\/rare-diseases\/lepr-deficiency\/\" target=\"_blank\" rel=\"noreferrer noopener nofollow\">LEPR deficiency<\/a>, which is a rare genetic condition, essentially \u201cmisfires\u201d hunger cues, causing sufferers to be in a constant state of hunger.<\/p>\n<p id=\"mntl-sc-block_38-0\">\u201cIt essentially means that his brain thinks that his body is hungry,\u201d Karen explained to the outlet. \u201cSo not only is it telling him he needs food and wants to eat, but it\u2019s telling his body to retain the fat because his body thought it was starving. Regardless of whether we let him eat nonstop or didn\u2019t let him eat, his body was going to retain the fat.\u201d<\/p>\n<p>Because the disease is so rare, there were not a lot of people who knew what to do to help him. A New York specialist at Columbia University, was working on a clinical trial of <a href=\"https:\/\/www.fda.gov\/drugs\/news-events-human-drugs\/fda-approves-first-treatment-weight-management-people-certain-rare-genetic-conditions\" target=\"_blank\" rel=\"noreferrer noopener nofollow\">IMCIVREE<\/a> for kids between 2 and 6 years old and offered to get Ben on the trial if the family was willing to make the drive. The medicine works to re-establish the hunger cues to make sure the body and brain are aligned.<\/p>\n<p id=\"mntl-sc-block_56-0\">\u201cOnce he got on the medicine, probably within a week, it was like he was a normal kid,\u201d his mother claimed. \u201cAll of a sudden, all of the food noise was gone, and he would play and not ask for snacks. And if we didn\u2019t eat lunch on time, he wasn\u2019t looking for food. It was a total 360 from where he was at before.\u201d<\/p>\n<p>Now at 6 years old, Ben takes a daily injection and it has utterly changed his life. The little boy is super active, and while he is maintaining that almost 100-pound weight, he\u2019s much taller and the weight is evenly distributed. Food and thoughts of food are no long the all-consuming problem they once were, much to the relief of his family.<\/p>\n<p>*Disclaimer: The advice on <a href=\"https:\/\/littlethings.com\" rel=\"nofollow noopener\" target=\"_blank\">LittleThings.com<\/a> is not a substitute for consultation with a medical professional or treatment for a specific condition. You should not use this information to diagnose or treat a health problem without consulting a qualified professional. Please contact your health-care provider with questions and concerns.<\/p>\n","protected":false},"excerpt":{"rendered":"Karen Frietag\/Facebook People have a tendency to glance at a person out and about and make a snap&hellip;\n","protected":false},"author":3,"featured_media":132564,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-132563","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115000631969273197","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/132563","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=132563"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/132563\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/132564"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=132563"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=132563"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=132563"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}