Le Forum maladies rares

[Modérateur]

Les aidants familiaux sont affiliés gratuitement à l'assurance vieillesse du parent au foyer (AVPF).
L'AVPF permet aux parents qui arrêtent ou réduisent leur activité pour aider un enfant handicapé de disposer de trimestres de retraite. La personne aidée doit présenter une incapacité permanente (IP) d'au moins 80%.
Pour accéder à l'AVPF, l'aidant doit remplir un formulaire de demande et l'envoyer à la Caisse d'allocations familiales (CAF) ou, s'il est salarié ou exploitant agricole, à la Mutualité sociale agricole (MSA)
Vous retrouverez ces informations sur le site suivant :
https://www.service-public.fr/particuli ... oits/F2574

[MarieH]

Bonsoir
Je me permets de revenir vers vous concernant la reconnaissance MDPH du syndrome GRIN 2B.
Certaines MDPH ont-elles attribué un taux de handicap de 80%?
La MDPH 75 maintient un taux de 50-79%, sans que les difficultés de notre fille ne soient réellement prises en compte, du moins il me semble.
Je vous remercie de m'indiquer si vous avez réussi et quelles démarches vous auriez entreprises pour ce faire.
Marie

[Alann]

Bonsoir,

Malheureusement, je crains qu'il n'y aura pas de généralisation, pour plusieurs raisons :

- Les commissions qui attribuent les taux sont les CDAPH. Ce sont des commissions départementales, il n'y a donc pas d'homogénéisation nationale.
- Les conséquences de la mutation du gène GRIN2B sont très variables d'une variante à l'autre, d'un individu à l'autre. Le taux d'incapacité peut donc varier entre deux enfants du même âge avec des mutations de GRIN2B, même s'ils étaient évalués par la même commission.

[Alann]

Bonjour à tous,

Pour information, une association GRIN2B Europe a été créée. Cette association, soeur de la GRIN2B Fondation (USA) vise à soutenir les familles, les aidants, personnels medical, et la recherche en Europe. Nous construisons actuellement un site web d'information dans plusieurs langues. Pour le moment, il est un peu vide, mais il est en cours de construction (http://www.grin2b.eu).

Il n'y a pas encore de possibilité d'adhésion, mais on y travaille.

Nous organisons en outre une conférence internationale à Barcelone les 05 et 06 octobre 2019. De nombreux chercheurs interviendront pour expliquer en détail la mutation du gène GRIN2B et ses conséquences, ainsi que les recherches en cours sur la compréhension de la maladie et les traitements.
C'est aussi un moyen de rencontrer d'autres parents avec qui nous partageons de nombreux points communs.
Plus de détails ici : https://www.facebook.com/events/241713486698342/
L'accès est gratuit sur inscription ici : https://docs.google.com/forms/d/e/1FAIpQLScHI65WkGOmU_17-vglvMyBjvKFq0sMdIdZHKkmGngMqRbskg/viewform
La conférence est dispensée en anglais, et nous n'avons pas de moyen de traduction pour cette année, mais on y travaille pour les éditions à venir.

[MarieH]

Merci de cette information!
Des actes sont-ils prévus?
Merci à vous
Marie

[MarieH]

Excusez moi, je voulais dire : il y aura t'il la rédaction d'actes du colloque?
Merci à vous
Marie

[Alann]

Bonjour,

Ce n'est pas prévu pour le moment. Voici le programme :

Day 1: October 5th
Basic and Translational
Science
8:45 – 9:15 Registration
9:15 - 9:30 Welcome - X. Altafaj / C. Brander
9:30 – 10:15 Structural and functional overview of GluN subunits and the NMDA - X. Altafaj, Bellvitge Biomedical Research Institute - IDIBELL, Barcelona
10:15 – 10:45 Diagnosis and clinical spectrum of GRIN-related disorders - J. R. Lemke, University of Leipzig
10:45 – 11:15 Coffee break
11:15 – 12:00 Murine models for the study of GRIN-related disorders and therapeutic interventions - A. Ramsey, University of Toronto
1 2 : 0 0 – 1 2 : 4 5 B r a i n M a p p i n g a n d neuromodulation: focused on previous experience in Rett syndrome - I. Medina, Hosp. Sant Joan de Deu
12:45: – 14:15 Lunch
14:15 – 15:00 Current status of gene therapies targeting the brain: The case of MPS - F. Bosch, CBATEG, Autonomous University Barcelona
15:00 – 15:45 A functional approach toward understanding mechanism and treatment for disease-associated rare GRIN variants -S. Myers, Emory University, Atlanta
15:45 – 17:00 Round table discussion
20:00 Dinner with speakers and parents

Day 2: October 6th
Clinical, Social, organizational aspects
09:00 – 09:15 The European GRIN2B association: Update on disease registration and further objectives - S. Silva, GRIN2B Europe Association, Spain
09:15 – 10:00 Review of Questionnaire Data - Z. Costello, GRIN2B Europe Association, UK
10:00 – 10:45 WORKSHOP on GRIN mutation variants - M. Olivella, Pompeu Fabra University, Barcelona
10:45 – 11:15 Coffee break
11:15 – 12:45 Final Title to be announced- Caring for the parents of children with special needs - A. Ponce, Mindfulness instructor, Family therapist
Lunch with the families and speakers

Nous réfléchissons à un enregistrement pour une diffusion youtube, mais ce n'est pas encore certain car les sujets présentés ne sont pas tous publiés.

Voici un lien vers ce programme :

https://drive.google.com/file/d/19pNkPkLa-aNjM1ndnnPwhp_KCunXJM5E/view?usp=sharing

[ShirleyErync]

I am Allister from Mumbai wed to Alisha with 1 kid, I remain at Dadar and also my MIL also used to stay near us next lane and also later after retired life changed to Panvel. I was really captivated ... cheating
I am Allister from Mumbai married to Alisha with 1 boy, I stay at Dadar and also my MIL also used to stay near us next lane and also later on after retired life changed to Panvel. I was extremely fascinated to my MIL considering that the day I initial satisfied her she has little boobs as well as a really nice round butt fair and really tempting. We both constantly had an excellent connection as SIL and MIL and always pleasant, I never assumed that we would certainly ever end up sharing a bed and appreciate such pleasureful time.

After her retired life she used to come to our home to satisfy our daughter in addition to her daughter and also remain with us for some couple of days and leave back so likewise we made use of to visit Panvel as well as hang around this made use of to occur but absolutely nothing occurred during nowadays. On one Sunday when she was flexing and also offering my other half when I simply got a look of her stunning little boobs yet nipples were in some way just how noticeable and also after simply checking out the boobs I frantically intended to see her nipple areas and also kept trying for days together and really did not allow any kind of event however was in some way not possible yet in this period she found some modification as well as realized that I was peeping to get the glimpse as well as in some way she stopped doing such activities.

After a month it was once more we were there at Panvel and also I once more I might peep and see and the next day I found that she was just locating events to flex as well as let me see the glimpse and also this continued for some days. I simply accumulated some nerve as well as when she was cooking toughed her midsection from behind and began offering her a massage therapy for which she informed someone will come don't do and I immediately quit as well as went as well as sat in the hall seeing TV, sometime later she came and also asked was I upset I stated no as well as she simply smiled and also told me my FIL is going to his indigenous with my BIL for some function the following day I just said ok as well as she left quickly after that it clicked me that indirectly she is just inviting me, currently the problem is I had my spouse and little girl I in some way made her all set that we both return to Mumbai for this I could see my MIL long face. We left the next day to Mumbai as well as right away for 3 days I took leave from office but didn't educate this to my other half my strategy was to go to Panvel as my MIL was all alone. For the surprise following morning I reached Panvel as well as by MIL had a really delighted face considering me and immediately requested her little girl I said I came alone just for you and she was all blushing. I really did not knew what to claim she informed me to rest and also she gazed preparing tea and also I simply went behind her and gazed massaging her waistline for which she again said somebody will certainly come and also it's wrong yet i just overlooked every little thing and also informed her no one is right here and also it's simply you and also me please don't say no and also my hands reached her boobs and also simply pressed it she started pulling off my hands as well as I just kept requiring it over her fabrics after that finally I just turned off the gas as well as took her to the bed room as well as secured both people inside as well as assured her that nobody is around its just you and also me please don't state no currently I have actually been waiting on this moment from such a long period of time, let me see your boobs and have fun with them and also suck your nipples like a child she was just hesitating yet in some way I simply obtained my hands inside her maxi and also got to till her boobs and gazed feeling her small nipple areas till this moment she had just surrendered her body to me without waiting much time and I eliminated her maxi and began pushing her boobs and drew her nipple areas just like a child. She really did not liked what had occur so she was just sobbing and I started consoling her and told her that me as well as her little girl don't have a great sex-related life as well as even she confessed about her relationship with my FIL is additionally not that wonderful it was mid-day we had some food as well as I in some way consoled and also she was quiet as well as right away after completing lunch she embraced me and also I could not quit myself and also stared pushing her substantial butt from behind and again took her to the bed room and also told her it's quite alright to have such partnership we are just trying to satisfy our surprise wishes as well as told her not to quit and also allow it proceed as per the circulation and also just pulled her maxi as well as began massing her magnificent ass and after that began playing with her unshaven pussy and asked her to get rid of those hair as well as come for the surprise she simply did as I claimed and also I stared licking her pussy which simply made he go horny as well as when I located her comfy on the bed offered her my dick to play she was firstly waiting and after that I pulled her head near my penis as well as provided her to suck it for my surprise she was just fantastic and also as soon as after this simply didn't wasted much time used some coconut oil to her pussy and also my cock and also simply slid it in and in till it simply got to deep within and the sexual groaning audio was just originating from her mouth and pleading to go slow-moving given that she had actually never had any kind of intercourse for many years somehow simply had it sluggish as well as lastly cleared all my cum inside her pussy for it being secure as her uterus has currently been gotten rid of. Quickly hereafter I called my partner and informed her that I went to Panvel as I had been for a meeting and also would be staying there. We both had dinner and as a young pair once again went inside the bedroom and have 2 more sessions and also rested. Following day we had bathroom with each other and also once again continued she additionally was as well comfortable as well as delighting in the visibility of my dick inside her pussy. It's nearly over 2 years we both are having a fantastic sexual life, just pierced all her holes (Mouth, Pussy & Anal) and also almost tried many different positions too. Whenever I obtain comp offs that simply obtains resorted to our honeymoon time.


http://www.surfingjapan.com/__media__/j ... indi-movie
http://canadianhousesitters.com/__media ... 489-search
http://www.froxy.com/__media__/js/netso ... parn-dutay
https://www.vinteger.com/scripts/redire ... rting-porn
http://www.feuerhelmlaw.com/__media__/j ... rgy-search
http://ccllabel.am/__media__/js/netsolt ... isian-porn