{"id":10281,"date":"2022-01-25T14:40:31","date_gmt":"2022-01-25T19:40:31","guid":{"rendered":"https:\/\/rqmo.org\/zackael\/"},"modified":"2022-01-25T14:40:31","modified_gmt":"2022-01-25T19:40:31","slug":"zackael","status":"publish","type":"post","link":"https:\/\/rqmo.org\/en\/zackael\/","title":{"rendered":"Zacka\u00ebl"},"content":{"rendered":"

\"\"<\/a><\/h3>\n

Zacka\u00ebl and Mitochondria<\/h3>\n

Progressive External Ophthalmoplegia<\/h4>\n

( Mitochondrial myopathy with DNA2 gene mutation)<\/h4>\n

Zacka\u00ebl is the baby of a family of 3 children. A little darling who was sleeping through the night from birth. A little tocson, a playful baby. But something worried me. Zacka\u00ebl was full of ganglions in his groin, under his arms, on his neck… Months went by and the ganglions never diminished. Added to this were sleepless nights consoling the inconsolable baby. He cries in pain, but we don’t know where it hurts. Introducing solid foods is hell, as he is unable to swallow purees. Lameness, pain in the stomach, neck and arms are symptoms that appear around 18 months. He’s able to talk and show where it hurts. <\/p>\n

First hospitalization at 2 \u00bd years old. His neck pain prevents him from standing up, he vomits in pain, he’s dizzy. CT scan, MRI… He’s full of ganglions on the cervical lymph node chain. But why? The pain comes and goes. In March 2011, Zacka\u00ebl’s stomach hurts, the pain is unbearable and he loses consciousness. We went to the emergency room; he was transferred by ambulance to Ste-Justine, where he was hospitalized for 16 days on intravenous morphine. A battery of tests was carried out; it was not known why he was in such pain, but they diagnosed mesenteric adenitis. Once again, ganglions in the intestine… <\/p>\n

The days go by like clockwork. Zacka\u00ebl is getting more and more tired. He can’t walk for long. He’s 3 years old but has no physical stamina. He can’t stand for long, or ride a tricycle. Sometimes he limps or can no longer hold his fork. He chokes a lot when he eats. Painful attacks wake him up at night. Massage, heat and Tempra don’t help. Dad and I take turns rocking and soothing as best we can, but our hearts are broken. I keep saying something’s wrong. I managed to get an appointment with a rheumatologist, and the wheels were set in motion. After several tests (MRI, CT scan, blood tests), she refers us to neurology, where a muscle biopsy will be ordered. <\/p>\n

It’s July 31, 2012. Zacka\u00ebl is 4 years old. The results are in: Mitochondrial Myopathy. Follow-up in genetics, neurology, cardiology, physiotherapy, occupational therapy, ophthalmology. More tests, more follow-ups, trial medication. Then exomic sequencing that finally makes the words fall out! Words that hurt, but also feel good. The words that are responsible for our little fighter’s pain. Mitochondrial myopathy with DNA2 gene mutation. <\/p>\n

Despite all this, Zacka\u00ebl is a thriving 7-year-old boy. He’s a brave warrior, determined and always up for new adventures. His path will sometimes be strewn with pitfalls we can’t foresee, as only 1 in 1,000,000 people are affected. As yet, there is no cure, but we’re confident that researchers will find one! <\/p>\n

Isabelle Comtois<\/p>\n

Here’s a video I made of our little boy as part of Mitochondrial Disease Week:<\/p>\n

https:\/\/www.youtube.com\/watch?v=lI9MiDMnH8Y&feature=youtu.be<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Zacka\u00ebl and Mitochondria Progressive External Ophthalmoplegia ( Mitochondrial myopathy with DNA2 gene mutation) Zacka\u00ebl is the baby of a family of 3 children. A little darling who was sleeping through the night from birth. A little tocson, a playful baby. But something worried me. Zacka\u00ebl was full of ganglions in his groin, under his arms, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[120],"tags":[],"class_list":["post-10281","post","type-post","status-publish","format-standard","hentry","category-portraits"],"_links":{"self":[{"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/posts\/10281","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/comments?post=10281"}],"version-history":[{"count":0,"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/posts\/10281\/revisions"}],"wp:attachment":[{"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/media?parent=10281"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/categories?post=10281"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rqmo.org\/en\/wp-json\/wp\/v2\/tags?post=10281"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}