{"id":55018,"date":"2024-09-19T17:31:11","date_gmt":"2024-09-19T21:31:11","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?p=55018"},"modified":"2024-11-13T13:05:36","modified_gmt":"2024-11-13T18:05:36","slug":"agrets-story-living-with-atrx","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/2024\/09\/19\/agrets-story-living-with-atrx\/","title":{"rendered":"The Gaetans’ Journey With ATRX"},"content":{"rendered":"

The responses below were originally written in French and translated using a third party service.<\/em><\/p>\n

What is your family like?<\/h3>\n

A mom, a dad and a boy with ATRX pathology.<\/span><\/p>\n

Une maman, un papa et un gar\u00e7on avec la pathologie ATRX.<\/em><\/p>\n

What do you do for fun?<\/b><\/h3>\n

Taking care of my little boy, making him play, making him laugh, helping him progress, cuddling him. Taking care of myself<\/span><\/p>\n

M’occuper de mon petit gar\u00e7on, le faire jouer, le faire rire, le faire progresser, lui faire des c\u00e2lins. M’occuper de moi m\u00eame<\/em><\/p>\n

Tell us about the biggest hardship you face.<\/b><\/h3>\n

His illness. His pathology prevents him from having a normal quality of life. His fragility caused by pharyngitis prevents him from enjoying the outdoors except when the weather is very nice. His low muscle tone prevents him from running in the garden. When he is sick, he decompensates too quickly.<\/span><\/p>\n

Sa maladie. Sa pathologie lui emp\u00eache d’avoir une qualit\u00e9 de vie normale. Sa fragilit\u00e9 caus\u00e9e par des pharyngites l’empeche de profiter de l’ext\u00e9rieur sauf quand il fait tr\u00e8s beau. Son faible tonus musculaire l’emp\u00eache de courir dans le jardin. Quand il est malade, il decompense trop vite.<\/em><\/p>\n

\"\"<\/b><\/h3>\n

What impacts your to participate or not to participate in research? How has participating in research been helpful for you?<\/b><\/h3>\n

In every illness, the patient hopes for a cure. It\u2019s the same logic for ATRX syndrome. Genetic research can and must move forward.<\/span><\/p>\n

Dans chaque maladie, le patient esp\u00e8re un traitement. C’est la m\u00eame logique pour le syndrome ATRX. <\/em>La recherche g\u00e9n\u00e9tique peut et doit avancer.<\/em><\/p>\n

How do you feel you are helping Simons Searchlight<\/span> learn more about rare genetic changes?<\/h3>\n

I observe my son’s conditions and try to decipher them. I can set up actions to help finance research if necessary.<\/span><\/p>\n

J’observe les conditions de mon fils et j’essaye de les d\u00e9crypter. Je peux monter des actions pour aider au financement de la recherche si besoin.<\/em><\/p>\n

What is one question you wish researchers could answer about this genetic change?<\/b><\/h3>\n

I would like to know the origin of the hypotonia. I would like to know the causes of the different muscular problems (feet turned inwards, contractures on the fingers of the hands). I would like to know why the syndrome develops differently in some people, even within the same siblings. I would like to know if the ATRX syndrome can be compared to the genetic research of another syndrome (we often find the same consequences: low tone and non-verbal) or of another neurological disease which experiences deficiencies with the white matter of the brain. I would like to know how we recognize that this pathology will cause serious consequences in children (role of amino acids which are reversed, the location of the mutation, etc.). I would like to know the cause of my son’s skeletal development ATRX. I would like to know why many Atrx children do not assimilate iron and is there a link with their often cold hands after meals? I would like to know why many Atrx children have mouth breathing. I would like to know why ATRX children have sleep apnea. I would like to know if ATRX has a link with the child’s immune system.<\/span><\/p>\n

Je souhaiterais conna\u00eetre l’origine de l’hypotonie. <\/em>Je souhaiterais conna\u00eetre les causes des diff\u00e9rents probl\u00e8mes musculaires (pieds retourn\u00e9s vers l’interieur, contractures sur les doigts des mains). <\/em>Je souhaiterais savoir pourquoi le syndrome se d\u00e9veloppe diff\u00e9remment chez les uns et chez les autres m\u00eame au sein d’une m\u00eame fratrie. <\/em>Je souhaiterais savoir si le syndrome ATRX peut se rapprocher de la recherche g\u00e9n\u00e9tique d’un autre syndrome (nous retrouvons souvent les m\u00eames cons\u00e9quences: faible tonus et non verbal) ou d’une autre maladie neurologique qui conna\u00eet des deficiences avec la substances blanche du cerveau. <\/em>Je souhaiterais savoir comment reconnait on que cette pathologie va entra\u00eener des cons\u00e9quences graves chez l’enfant (r\u00f4le des acides amin\u00e9s qui se sont inverses, le lieux de la mutation …) <\/em>Je souhaiterais conna\u00eetre la cause sous d\u00e9veloppement du squelette de mon fils ATRX. <\/em>Je souhaiterais savoir pourquoi beaucoup d’enfants Atrx n’assimilent pas le fer et existe t il un lien avec leurs mains souvent froides apr\u00e8s les repas. <\/em>Je souhaiterais savoir pourquoi beaucoup d’enfants ATRX ont une respiration bucale. <\/em>Je souhaiterais savoir pourquoi les enfants Atrx font des apnees du sommeil. <\/em>Je souhaiterais savoir si Atrx a un lien avec le syst\u00e8me immunitaire de l’enfant.<\/em><\/p>\n

What have you learned about your or your child\u2019s genetic condition from other families?<\/b><\/h3>\n

We are all in the same fight: to improve the conditions of our children. ATRX affects children more or less hard. We often find muscular problems, shifty eyes, lack of speech, myclonia and even ears that turn red at the slightest ray of sunlight.<\/span><\/p>\n

Nous sommes tous dans le m\u00eame combat: ameliorer les conditions de nos enfants. <\/em>ATRX touche les enfants plus ou moins fort. On retrouve souvent des probl\u00e8mes musculaires, un regard fuyant,l’absence de parole, des myclonies et m\u00eame les oreilles qui deviennent rouges au moindre rayon de soleil.<\/em><\/p>\n

\"\"<\/p>\n

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?<\/b><\/h3>\n

To help the child as soon as possible.<\/span><\/p>\n

De verticaliser le plus t\u00f4t possible l’enfant.<\/em><\/p>\n

How has Simons Searchlight<\/span> served as a resource for you and your family?<\/h3>\n

By giving hope in this long journey.<\/span><\/p>\n

En donnant de l’espoir dans ce si long chemin.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Discover the inspiring story of the Gaetans.<\/p>\n","protected":false},"author":28,"featured_media":55019,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[16],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/55018"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=55018"}],"version-history":[{"count":5,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/55018\/revisions"}],"predecessor-version":[{"id":57163,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/55018\/revisions\/57163"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media\/55019"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=55018"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/categories?post=55018"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/tags?post=55018"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}