{"id":9950,"date":"2023-02-28T11:50:38","date_gmt":"2023-02-28T00:50:38","guid":{"rendered":"https:\/\/blogs.rch.org.au\/news\/?p=9950"},"modified":"2023-02-28T14:31:26","modified_gmt":"2023-02-28T03:31:26","slug":"maggie-shines-a-light-on-rare-diseases","status":"publish","type":"post","link":"https:\/\/blogs.rch.org.au\/news\/maggie-shines-a-light-on-rare-diseases\/","title":{"rendered":"Maggie shines a light on rare diseases"},"content":{"rendered":"

To recognise Rare Diseases Day, we spoke to Maggie\u2019s mum Jess, who shared her experience of navigating her daughter\u2019s rare condition, Ornithine transcarbamylase deficiency (OTC deficiency).\u00a0\u00a0<\/span><\/b>\u00a0<\/span><\/p>\n

Four-year-old Maggie was born with Ornithine transcarbamylase deficiency, a rare genetic condition that occurs in up to 1 in 77,000 people, <\/span>where she is missing an enzyme in the urea cycle.\u00a0<\/span>\u00a0<\/span><\/p>\n

Therefore, her body cannot process protein which causes high ammonia levels. The symptoms are vomiting, lethargy and irritability. Long-term brain damage is often a result of hyper ammonia.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cWhen I was 20 weeks pregnant, we found out that Maggie was going to be born with a genetic deletion on one chromosome. This was going to mean that she could have multiple problems arise over her life,\u201d said Jess, Maggie\u2019s mother.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cMaggie has spent a lot of time at the RCH over the last four years. Sometimes being admitted weekly or fortnightly and staying anywhere from 2 days to 7 days each time.\u201d<\/span>\u00a0<\/span><\/p>\n

Maggie\u2019s care team involves a number of different disciplines from across the hospital including the metabolic team, dieticians and social work. <\/span>\u00a0<\/span><\/p>\n

Maggie is put on continuous non-protein feeds through a PEG and is given IV meds to help decrease the ammonia levels.\u00a0<\/span>\u00a0<\/span><\/p>\n

She has had a PEG and a port inserted over the last year to help make everything easier and less traumatic for her.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cThere have been many ups and downs, over the last year especially. With no clear indication of what her future holds.\u201d\u00a0<\/span>\u00a0<\/span><\/p>\n

At home her condition is managed by oral medication and a low-protein diet. No matter what gets thrown at her, Maggie continues to be happy and is always bringing joy to her parents.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cMaggie continues to inspire us daily. Her resilience is amazing! She has a fiery personality but is generally happy and in a great mood regardless of what she is experiencing.\u201d\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cSpreading awareness of OTC deficiency on Rare Diseases Day is important to us so that others can be educated and have an understanding of what Maggie lives with every day.\u201d<\/span>\u00a0<\/span><\/p>\n

\u201cWe are very grateful for all the doctors and nurses at RCH. Our experience with the care they have shown towards Maggie has been nothing short of amazing.\u201d<\/span>\u00a0<\/span><\/p>\n

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To recognise Rare Diseases Day, we spoke to Maggie\u2019s mum Jess, who shared her experience of navigating her daughter\u2019s rare condition, Ornithine transcarbamylase deficiency (OTC deficiency).\u00a0\u00a0\u00a0<\/p>\n","protected":false},"author":5366,"featured_media":9956,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[8971,7198],"tags":[],"class_list":["post-9950","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-featured","category-good-friday-appeal"],"acf":[],"_links":{"self":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/9950","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/users\/5366"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/comments?post=9950"}],"version-history":[{"count":1,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/9950\/revisions"}],"predecessor-version":[{"id":9957,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/9950\/revisions\/9957"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/media\/9956"}],"wp:attachment":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/media?parent=9950"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/categories?post=9950"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/tags?post=9950"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}