{"version":"1.0","provider_name":"Le Phare","provider_url":"https:\/\/phare-lighthouse.com\/en\/","title":"Rare Disease Day - Le Phare","type":"rich","width":600,"height":338,"html":"<blockquote class=\"wp-embedded-content\" data-secret=\"H8CBtLFwRT\"><a href=\"https:\/\/phare-lighthouse.com\/en\/news\/rare-disease-day\/\">Rare Disease Day<\/a><\/blockquote><iframe sandbox=\"allow-scripts\" security=\"restricted\" src=\"https:\/\/phare-lighthouse.com\/en\/news\/rare-disease-day\/embed\/#?secret=H8CBtLFwRT\" width=\"600\" height=\"338\" title=\"&#8220;Rare Disease Day&#8221; &#8212; Le Phare\" data-secret=\"H8CBtLFwRT\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\" class=\"wp-embedded-content\"><\/iframe><script type=\"text\/javascript\">\n\/* <![CDATA[ *\/\n\/*! This file is auto-generated *\/\n!function(d,l){\"use strict\";l.querySelector&&d.addEventListener&&\"undefined\"!=typeof URL&&(d.wp=d.wp||{},d.wp.receiveEmbedMessage||(d.wp.receiveEmbedMessage=function(e){var t=e.data;if((t||t.secret||t.message||t.value)&&!\/[^a-zA-Z0-9]\/.test(t.secret)){for(var s,r,n,a=l.querySelectorAll('iframe[data-secret=\"'+t.secret+'\"]'),o=l.querySelectorAll('blockquote[data-secret=\"'+t.secret+'\"]'),c=new RegExp(\"^https?:$\",\"i\"),i=0;i<o.length;i++)o[i].style.display=\"none\";for(i=0;i<a.length;i++)s=a[i],e.source===s.contentWindow&&(s.removeAttribute(\"style\"),\"height\"===t.message?(1e3<(r=parseInt(t.value,10))?r=1e3:~~r<200&&(r=200),s.height=r):\"link\"===t.message&&(r=new URL(s.getAttribute(\"src\")),n=new URL(t.value),c.test(n.protocol))&&n.host===r.host&&l.activeElement===s&&(d.top.location.href=t.value))}},d.addEventListener(\"message\",d.wp.receiveEmbedMessage,!1),l.addEventListener(\"DOMContentLoaded\",function(){for(var e,t,s=l.querySelectorAll(\"iframe.wp-embedded-content\"),r=0;r<s.length;r++)(t=(e=s[r]).getAttribute(\"data-secret\"))||(t=Math.random().toString(36).substring(2,12),e.src+=\"#?secret=\"+t,e.setAttribute(\"data-secret\",t)),e.contentWindow.postMessage({message:\"ready\",secret:t},\"*\")},!1)))}(window,document);\n\/* ]]> *\/\n<\/script>\n","thumbnail_url":"https:\/\/phare-lighthouse.com\/wp-content\/uploads\/2026\/02\/Journee-maladie-rare-1.jpeg","thumbnail_width":1536,"thumbnail_height":2048,"description":"Nicolas&nbsp;is&nbsp;11&nbsp;years&nbsp;old. He&nbsp;lives&nbsp;with&nbsp;a rare&nbsp;orphan&nbsp;disease&nbsp;called&nbsp;FoxG1 syndrome, a&nbsp;genetic&nbsp;condition&nbsp;that&nbsp;affects&nbsp;brain&nbsp;development. This&nbsp;disorder&nbsp;causes&nbsp;significant&nbsp;neurological&nbsp;and cognitive&nbsp;impairments, as&nbsp;well&nbsp;as global&nbsp;developmental&nbsp;delays. Nicolas uses a&nbsp;wheelchair. He&nbsp;is&nbsp;non-verbal and&nbsp;experiences&nbsp;involuntary&nbsp;muscle contractions&nbsp;that&nbsp;result&nbsp;in&nbsp;repetitive,&nbsp;uncontrolled&nbsp;movements. He&nbsp;also&nbsp;struggles&nbsp;with&nbsp;severe&nbsp;sleep&nbsp;disturbances,&nbsp;is&nbsp;primarily&nbsp;fed&nbsp;through&nbsp;a&nbsp;gastrostomy&nbsp;tube, and&nbsp;lives&nbsp;with&nbsp;refractory&nbsp;epilepsy&nbsp;that&nbsp;remains&nbsp;difficult&nbsp;to control&nbsp;despite&nbsp;medication.&nbsp; Despite&nbsp;these&nbsp;significant&nbsp;challenges, Nicolas has a&nbsp;personality&nbsp;that&nbsp;naturally&nbsp;touches&nbsp;everyone&nbsp;who&nbsp;meets&nbsp;him.&nbsp;His&nbsp;laugh&nbsp;is,&nbsp;to us, the&nbsp;most&nbsp;beautiful&nbsp;sound&nbsp;on&nbsp;earth.&nbsp;His&nbsp;smiles,&nbsp;his&nbsp;gaze, and&nbsp;his&nbsp;gentle&nbsp;little&nbsp;touches&nbsp;leave&nbsp;a mark on&nbsp;every&nbsp;person&nbsp;he&nbsp;encounters. Nicolas&nbsp;is&nbsp;also&nbsp;fortunate&nbsp;to have&nbsp;three&nbsp;younger&nbsp;sisters&nbsp;who&nbsp;adore&nbsp;him.&nbsp;They&nbsp;are&nbsp;growing&nbsp;up&nbsp;alongside&nbsp;him,&nbsp;developing&nbsp;a&nbsp;depth&nbsp;of&nbsp;sensitivity&nbsp;that&nbsp;few&nbsp;children&nbsp;acquire&nbsp;so&nbsp;early&nbsp;in life.&nbsp; Nicolas\u2019&nbsp;early&nbsp;years&nbsp;were&nbsp;extremely&nbsp;intense and&nbsp;difficult. He&nbsp;cried&nbsp;almost&nbsp;24&nbsp;hours&nbsp;a&nbsp;day&nbsp;throughout&nbsp;his&nbsp;first&nbsp;year&nbsp;of life. At&nbsp;just&nbsp;four&nbsp;months&nbsp;old,&nbsp;exhausted&nbsp;from&nbsp;constantly&nbsp;worrying&nbsp;about&nbsp;my&nbsp;baby and&nbsp;repeatedly&nbsp;being&nbsp;told&nbsp;I&nbsp;was&nbsp;experiencing&nbsp;postpartum&nbsp;depression, I&nbsp;finally&nbsp;brought&nbsp;him&nbsp;to the emergency&nbsp;department&nbsp;at Sainte-Justine. Nicolas&nbsp;was&nbsp;quickly&nbsp;admitted&nbsp;for&nbsp;testing. That&nbsp;was&nbsp;when&nbsp;we&nbsp;learned&nbsp;he&nbsp;had&nbsp;brain&nbsp;abnormalities&nbsp;and&nbsp;that&nbsp;his&nbsp;life&nbsp;journey&nbsp;would&nbsp;be&nbsp;far&nbsp;from&nbsp;simple.&nbsp; Sleep, or&nbsp;rather, the&nbsp;complete&nbsp;lack&nbsp;of&nbsp;it,&nbsp;was&nbsp;one of the&nbsp;hardest&nbsp;parts. Nicolas&nbsp;never&nbsp;slept&nbsp;more&nbsp;than&nbsp;two&nbsp;consecutive&nbsp;hours, and&nbsp;this&nbsp;went&nbsp;on for&nbsp;years. He&nbsp;would&nbsp;become&nbsp;so&nbsp;exhausted&nbsp;that&nbsp;he&nbsp;would&nbsp;cry&nbsp;for&nbsp;hours&nbsp;without&nbsp;stopping. On top of&nbsp;that,&nbsp;he&nbsp;suffered&nbsp;from&nbsp;severe&nbsp;constipation,&nbsp;causing&nbsp;intense pain and&nbsp;triggering&nbsp;even&nbsp;more&nbsp;prolonged&nbsp;crying&nbsp;episodes.&nbsp;Because&nbsp;he&nbsp;is&nbsp;non-verbal,&nbsp;we&nbsp;could&nbsp;never&nbsp;truly&nbsp;know&nbsp;what&nbsp;was&nbsp;hurting&nbsp;him,&nbsp;which&nbsp;often&nbsp;led&nbsp;us back to the emergency room,&nbsp;desperately&nbsp;searching&nbsp;for&nbsp;answers.&nbsp; Over time,&nbsp;thankfully,&nbsp;we&nbsp;learned&nbsp;to&nbsp;understand&nbsp;him&nbsp;better,&nbsp;to&nbsp;recognize&nbsp;the&nbsp;signs&nbsp;of&nbsp;discomfort&nbsp;and&nbsp;find&nbsp;ways&nbsp;to&nbsp;relieve&nbsp;him&nbsp;more&nbsp;quickly. But the challenges&nbsp;remain&nbsp;significant. Nicolas\u2019&nbsp;epilepsy&nbsp;is&nbsp;refractory&nbsp;to&nbsp;medication, and&nbsp;he&nbsp;can&nbsp;experience&nbsp;up to&nbsp;three&nbsp;absence&nbsp;seizures&nbsp;a&nbsp;day.&nbsp; In&nbsp;our&nbsp;life,&nbsp;there&nbsp;is&nbsp;no room for&nbsp;spontaneity.&nbsp;With&nbsp;a&nbsp;child&nbsp;who&nbsp;has&nbsp;complex&nbsp;medical&nbsp;needs,&nbsp;every&nbsp;action must&nbsp;be&nbsp;planned,&nbsp;every&nbsp;outing&nbsp;carefully&nbsp;considered, and a&nbsp;very&nbsp;precise&nbsp;routine must&nbsp;be&nbsp;followed&nbsp;to&nbsp;ensure&nbsp;things&nbsp;go as&nbsp;smoothly&nbsp;as possible.&nbsp; Even a simple outing requires full preparation: packing a bag with diapers, extra clothing, feeding supplies, medications, syringes, nothing can be forgotten. Now that Nicolas is older, another consideration has been added: making sure in advance that wherever we go has a safe and dignified place to change him.&nbsp; Because&nbsp;of&nbsp;this&nbsp;reality, one of us&nbsp;often&nbsp;stays&nbsp;home&nbsp;with&nbsp;Nicolas&nbsp;while&nbsp;the&nbsp;other&nbsp;takes&nbsp;the girls to&nbsp;activities. It&nbsp;is&nbsp;never&nbsp;an&nbsp;easy&nbsp;decision, but&nbsp;it&nbsp;has&nbsp;become&nbsp;our&nbsp;way&nbsp;of balancing&nbsp;everyone\u2019s&nbsp;needs,&nbsp;even&nbsp;if&nbsp;it&nbsp;means&nbsp;fewer&nbsp;moments&nbsp;together&nbsp;as a&nbsp;whole&nbsp;family. Over time,&nbsp;this&nbsp;brings&nbsp;a&nbsp;great&nbsp;deal of&nbsp;guilt,&nbsp;guilt&nbsp;about [&hellip;]"}