{"id":3261,"date":"2015-07-21T15:59:20","date_gmt":"2015-07-21T15:59:20","guid":{"rendered":"http:\/\/interactif.com\/enfold\/?p=3261"},"modified":"2022-05-03T18:27:13","modified_gmt":"2022-05-03T18:27:13","slug":"understanding-the-genetic-condition-of-your-child-with-dmd","status":"publish","type":"post","link":"https:\/\/laforcedmd.com\/en\/understanding-the-genetic-condition-of-your-child-with-dmd\/","title":{"rendered":"Understanding the genetic condition of your child with DMD"},"content":{"rendered":"

Marie-Catherine Du Berger, President<\/p>\n

Fondation La Force, Duchenne Muscular Dystrophy<\/p>\n

In our family, the diagnostic hit on October 2013: our son Anakin is stricken with DMD.\u00a0 The only thing I can compare this event to an atomic explosion\u2026 As parents, our hearts, like those of our loved ones, broke with suffering. I don\u2019t want to dwell on the deep feeling of sadness we experienced. We gave birth to a beautiful child who has a genetic defect. We needed to delve into the mystery of this genetic defect. With a lot of determination and a bit of luck, we uncovered the exact nature of our son\u2019s genetic condition. This knowledge now allows us to follow the research that can ultimately serve to treat his specific condition. Today I would like to share some of this knowledge so that you may benefit from my journey.<\/p>\n

 <\/p>\n

Blood sample for further genetic testing<\/h3>\n

It was in the whirlwind of medical appointments that the matter of a biopsy was introduced in the discussions. I only decided against this procedure as I found it too invasive. It was then proposed to me that we replace the biopsy by a third blood test, this time around for further genetic testing<\/strong>. I must admit that when I got the results, I didn\u2019t understand the purpose: it was total gibberish to me!\u2026 My first reaction as an ordinary mom was to look for answers on the Internet \u2026 Result: even more gibberish!<\/p>\n

 <\/p>\n

Report decoded by an ally:\u00a0 the \u201c<\/a><\/strong>Regroupement qu\u00e9b\u00e9cois des maladies <\/strong>orphelines.\u201d<\/strong><\/a><\/h3>\n

Intuitively, the idea came to me to contact the Regroupement qu\u00e9b\u00e9cois des maladies orphelines\u201d (the Quebec Coalition for Orphan Diseases). Thanks to them, I finally put the finger on my son\u2019s specific condition: a so-called \u201cnonsense mutation<\/em>\u201d that affects 13% of children with DMD. Following this discovery, I realized that the most promising treatments tackle only one condition at a time. In short, proper treatment for \u201cnonsense mutations\u201d will not work on another condition, and vice versa.<\/p>\n

<\/h3>\n

Knowledge: our greatest strength!<\/strong><\/h3>\n

It\u2019s hard to keep the hope when your child is sick, but it\u2019s good to know that different forms of treatment are undergoing clinical trials as we speak. It is an important step to identify and understand the genetic condition of the child. It allows us to gather strength and turn to the positive aspect of things brought about by current scientific advances. Unfortunately, parents are not systematically informed of the specific genetic condition of their child by the health system. The main objective of the La Force foundation is to encourage parents to become \u201cMasters\u201d of their health and that of their child. Our mission is to inform people about research on DMD; and in the face of adversity, we believe that together we ARE The Force<\/em>.<\/p>\n","protected":false},"excerpt":{"rendered":"

Marie-Catherine Du Berger, President Fondation La Force, Duchenne Muscular Dystrophy In our family, the diagnostic hit on October 2013: our son Anakin is stricken with DMD.\u00a0 The only thing I can compare this event to an atomic explosion\u2026 As parents, our hearts, like those of our loved ones, broke with suffering. I don\u2019t want to […]<\/p>\n","protected":false},"author":3,"featured_media":3262,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[12],"tags":[],"class_list":["post-3261","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"\nUnderstanding the genetic condition of your child with DMD - La Force dmd<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/laforcedmd.com\/en\/understanding-the-genetic-condition-of-your-child-with-dmd\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Understanding the genetic condition of your child with DMD - La Force dmd\" \/>\n<meta property=\"og:description\" content=\"Marie-Catherine Du Berger, President Fondation La Force, Duchenne Muscular Dystrophy In our family, the diagnostic hit on October 2013: our son Anakin is stricken with DMD.\u00a0 The only thing I can compare this event to an atomic explosion\u2026 As parents, our hearts, like those of our loved ones, broke with suffering. 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