Today is the day! Join us in ONE HOUR for a FACEBOOK live kickoff with CureGRIN Staff! One month of running, walking, wheeling, dancing, and any other ways you can think to #GetMovingForGRI! Let's get MOVING! There is still time to register at #linkinbio #linkincomments #GetMovingforGRI #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
Save the date and set your alarm ! Join CureGRIN Staff, Saturday, June 1 at 8:30 am CST for the LIVE kickoff of #GetMovingForGRI! We can't be together in person, but we will still bring the fun! Register to participate and win some AWESOME prizes! #linkinbio #linkincomments #GetMovingforGRI #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
次男お弁当 今週3回目のお弁当。ほっと一息の週末☺️ ◎豚肉の黒酢あんかけ ◎海苔巻玉子焼き ◎人参とズッキーニのマリネ ◎蒸しソラマメにブラックソルト ◎ミニトマト ◎キウイフルーツ ◎ウィンナーロール 先日ランチでいただいた豚肉の黒酢あんかけがとっても美味しくて！！真似して（同じじゃないけど）作ってみました。切り落とし肉を丸めてます。次男が食べやすいように半分に切ってお弁当にIN🍱 今日も完食でした、ありがとう✨ #次男お弁当 #支援学校 #2年生 #お肉大好き #食べやすく #頑張って食べよう 今日は紫のピアスを付けていたのだけれど、そういうのを気にかけてくれるのは次男🤭私の耳を指差して気になっているようだ。 どう？可愛い？と聞いてみたら 「とってもすてき」と返してくれました。 ありがとー！！って思わずハグしちゃうよね💕 心はちゃんと育ってます。 #脳波異常 #grin2a
次男お弁当 今週2回目、残り1回🙌 ◎醤油麹米粉唐揚げ ◎青海苔玉子焼き ◎チクワヒヨコとチクワキュウリ ◎キャロットラペ ◎金時豆（パルシステムのやつ） ◎ミニトマト ◎おにぎり（赤紫蘇＆韓国海苔あみえび） ◎無茶々園の寒天みかんゼリー 醤油麹の唐揚げは美味しくて間違いない✨チクワヒヨコたぶん初めてやったと思うんだけど、穴が大きくてすぐに外れてしまいそうだった（食べるまでに無事にヒヨコでいたんだろうか…）特別なゼリーを放出しちゃったよ🍊2個入りだったから、残りの1個は私がこっそり食べる予定。なんと今日も卵が双子でした〜😆 今日はお話会があってお昼持参だったので、息子のあまりをつめて私用のお弁当に。ちょうど良かった〜！ とってもいいお話だったんです。これは行かなきゃとピンときたの、間違いなかったな☺️ 最近、次男の調子が良い感じです。毎日見てないと分からないくらいの小さな変化なんだけれど、動きも言葉の返しも回復傾向✨✨悪化の底を脱するたびにホッとする、その繰り返しです。 今日はテレビからピンクレディの曲が流れてきたら「ユーフォー！！」って言っててビックリ！どこで覚えたんだろ🤭 #次男お弁当 #支援学校 #2年生 #脳波異常 #grin2a #今日も完食 #ありがとう
#GetMovingforGRI! Start planning your distance goal now. It’s an honor system, so keep track of your own miles via an activity app such as Strava, fitbit, or drive your favorite routes to see how far you’re really going. How far can you go in June? Half marathon (13.1 miles / 21.1 km) ~3.5 miles per week Marathon (26.2 miles / 42.2 km) ~ 7 miles per week Ultramarathon (50 miles / 80.5 km) ~ 12 miles per week Don't forget to register! #linkinbio #linkincomments #GetMovingforGRI #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
次男お弁当 今週3回もお弁当なの…辛い週始めでございます… ◎秋川食品の黒豚メンチカツ ◎ブロッコリー柚子味噌ドレ和え ◎玉子焼き ◎長芋塩バター炒め ◎にんじんハチミツ煮 ◎ミニトマト ◎キウイフルーツ ◎タコさんウィンナーパン 奥の方のタコさん🐙哀愁漂ってますね🤭 今日は卵を割ったら双子でした！久しぶりの遭遇〜 次男は自分でちょうど良い大きさにカットしたり、調整しながらかじるのが難しいので、最初から食べやすいサイズに入れることが多いです。しかし今日は玉子焼きをそのまま入れてしまったんですね…失敗した！と反省💦 帰ってきてから何が美味しかった？など話をしていると、次男が「おおきーい！たまご！食べた！」😂 だよね〜ママ小さくするの忘れてたよ…と謝ると「先生がちいさくした！」ちゃんと思い返して出来事を話してくれました✨素晴らしい！ お弁当は完食でした。 先生のサポートに感謝です💓 #次男お弁当 #支援学校 #2年生 #できないことを #できることに #完食 #ありがとう #脳波異常 #grin2a
We’ve got #GetMovingForGRI prizes! We will be giving away #CureGRIN swag (t-shirts, car decals, and more). If the suggested distances are not a big enough challenge for you, we've got a few competitive and fun categories for you overachievers to take on: Fastest to complete the ultra-marathon challenge Most miles covered during the 31-day challenge Most miles in one day Most funds raised by an individual Most funds raised by a team Most creative team names Photo contests Register today! #linkinbio #linkincomments #GetMovingforGRI #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
GenIDA, pour qui ? who for? ¿para quién? para quem? per chi? für wen? voor wie? για ποιον; "Designed by starline / Freepik" #med13l #kbgsyndrome #cacna1a #cdkl5 #koolendevriessyndrome #kabukisyndrome #angelmansyndrome #xiagibbssyndrome #wiedemannsteinersyndrome #rettsyndrome #satb2 #kleefstrasyndrome #grin2b #grin2a #epilepsy #intellectualdisabilities #geneticconditions #rarediseases #rubinsteintaybisyndrome #ddx3xsyndrome #whitesuttonsyndrome #angelmansyndrome #wolfhirschhorn #foxg1syndrome #setd5 #ddx6 dyrk1a #fragilex #ctnnb1 #rnu4-2 #zbtb18 #bpan
This week GRI-UK again had the privilege of being invited by GRIN Therapeutics to visit Great Ormond Street Hospital, London, the 2nd location of the UK Clinical Trial for the Radiprodil / Honeycomb Trial. We were given a tour of patient rooms and facilities and some insights into what our UK Families might expect in the trial. Both sites, Great Ormond Street Hospital, London and The Queen Elizabeth University Hospital, Glasgow's, Registration for the Radiprodil / Honeycomb Trial is open. Thank you very much to GRIN Therapeutics and Great Ormond Street Hospital. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #grigenedisorders
Earlier this month GRI-UK had the pleasure of being invited by GRIN Therapeutics to the Queen Elizabeth University Hospital, Glasgow, to visit the Clinical Trial Site for the Radiprodil / Honeycomb Study. We had the opportunity of hearing what patients and their families might expect during the study, we also had the opportunity to visit the play/tv/games room and patient rooms to be used by families. The staff were very warm and welcoming and gave us lots of information on what our UK Families might expect if taking part in the study. Thank you to GRIN Therapeutics and the Queen Elizabeth University Hospital. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIGENEDISORDERS
I am so excited to announce that I am working with Lane Glo Bowl South on a Fundraiser for the Cure GRIN Foundation. As you may know, Aurora has a very rare genetic disorder called GRIN2A. Many GRI Patients are nonverbal, unable to walk and often suffer severe and frequent seizures that are not responsive to medical therapies. The foundation raises money for critical research, as none of the GRI disorders have a cure. And if you can’t make it to the event, you can donate directly to Curegrin.org Sign up now for a fun night of cosmic bowling, raffles and fun. All proceeds will go to the CUREGrin Foundation. I think maybe a certain Princess Aurora will make an appearance as well! #rorastrong #CureGRIN #GRIN2A
Spread the word that you are participating in #GetMovingforGRI! Order your yard sign today. International shipping available. Allow 2-3 weeks for delivery. Email [email protected] to order! #GetMovingforGRI #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
Are you ready to #GetMovingForGRI!? We are excited to kick off our 5th annual virtual physical family challenge to promote healthy lifestyles while raising money to help find therapies and cures for those living with GRI Disorders. 100% of Get Moving for GRI revenue will go to grants for research projects that will help us achieve our goal of treatments and cures by the end of this decade! Get your team together, order your shirts and yard signs and REGISTER TODAY! #linkincomments #linkinbio #GRIN1 #GRIN2A #GRIN2B #GRIN2D # GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRID #GRIK2 #inspireothers #marathon #eatsleeprunrepeat
❓Connaissez-vous Jérôme alias @dolipran_sb ? Notre ambassadeur officiel du #GetMovingForGRI 2024 ! 🎉 Du sport, de la combativité, mais surtout, beaucoup de passion ! Un engagement singulier au profit des personnes malades et de leur famille. Nous espérons trouver de nombreux sponsors qu'il pourra mettre en valeur lors ce mois de juin 2024 qui s'annonce sportif, colorés et surtout solidaire ! 💜💙🧡 👉N'hésitez pas à proposer des défis à Jérôme, il se fera un plaisir de les relever 💪 ⬇️ en commentaires ⬇️ ou en mp ! #défissportifs #solidarité #sportevent #grifrance #grin1 #grin2a #grin2b #grin2c #grin2d #gria1 #gria2 #gria3 #gria4 #grid1 #grid2 #grik 📷 Photos signées : @didier_moulin_photography
We are happy to share an update on GRIN Therapeutic's Honeycomb clinical trial sites! New sites added are in Australia, Canada and the UK. Check out our website to see updates and all sites currently enrolling GRIN genes. #linkincomments #clinicaltrial #grin1 #grin2a #grin2b #grin2d
Finishing up April - World Autism Month ! Remembering one of my favorite 10 km races @rundisney not only is still my PR of 52:00 but I ran for the organization of Autism Speaks @autismspeaks in honor of my son . Enzo is my light , my soul and my motivation , hopefully one day he will run with me and celebrate the glory of life . #disneymarathonweekend #asd #autismawareness #grin2a #
We are so fortunate that Cece has amazing siblings. We've been trying to take her on more outings lately and it wouldn't be possible without the support and patience these kids gjve. Cece has changed our lives in so many ways. I think the hardest change for the kids has been how we interact with the world. We were the pick up and go family. Kid activities ruled our schedule and any free time was spent traveling and exploring. Our world is much smaller now, mostly consisting of our house. But we've reached a point where the big kids are older and able to help more and Cece has come so far with the reduction in her SIB. For Easter we put on an "egg hunt" for our runner friends and then hung out at this cool park with a giant dinosaur feature. Overall, it was a great day. It wasn't perfect and we had to navigate a few meltdowns but all in all we spent a fun few hours out of our normal bubble. I can't wait to see where we're able to take her next. ** Ri is amazing with Cece but was working so she wasn't able to hang out this day 🥰 #ceceblue #GRIN2A #asd #hypotonia #epilepsy #thisis5 #CureGRIN #lookoutworld #familyfun #houstonfun
Last week I was talking to a long time family friend, somebody I have always looked up to with respect and even more so in recent months. In the midst of conversation she referred to Randy as being disabled and in the same conversation she referred to me as being a parent of a child with special needs. And out of anybody in my life, she is the most qualified to give me and Randy these titles. However, it kind of stopped me in my tracts and made me think and I have been thinking and processing it since then. It’s not new news to me. I’m not so unaware that I don’t know these things about my life. But up till now I had not allowed myself to have these titles or fully considered what it means for Theo and I and Randy and our family. This conversation really gave me the permission to submerge myself in the life of a child with special needs. What does that even look like? Well right now it’s a lot of this: Thinking about how lonely this road is going to be. Thinking about what it means for Randy. Grieving the things Randy may not get to do. Grieving the person we thought and hoped Randy would be. Anxious over the next test or treatment or appointment. Anxious over “is today going to be the day he has another seizure?” Trusting the Lord for Randy’s health and days and weeks and years. Trusting the Lord for his grace and kindness to us as parents. Thankfulness for the quality of life Randy DOES have. Thankfulness for modern medicine. Thankfulness for a great team of doctors. And thankfulness for Randy himself. And those are just todays considerations. But more than anything right now, it’s learning. Learning how to help Randy. Learning about all his diagnoses. Learning how Randy works. Learning to have hard conversations with each other as parents, care givers, and spouses. We don’t even know to the full extent of what this life is going to look like. And I can’t even tell you I’m ready to face it. But I can tell you I’m grateful for people that are willing to come along side me and have the hard conversations and are able to tell me the hard truths, even in the most causal of ways. #specialneedsparenting #grin2a #raredisease #geneticdisorder
Today we celebrate #NationalSiblingsDay! The bond between siblings is extra-special, even more so if one of them has a chronic illness or disability. National Sibling's Day is a way of honoring that special bond. CureGRIN recognizes the unique set of challenges faced by siblings of people with GRI Disorder. In honor of this day, we invite siblings to join our GRI Disorder Sibling Support Group to address the need for information, attention and friendship. #Itsasiblingthing #growingupwithsiblings #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK1 #GRIK2 #GRID Join us now at #linkincomments
Les inscriptions sont ouvertes pour la #GRIcon2024 présentée par @curegrin_foundation et leur sponsor platine, GRIN Therapeutics ! Le samedi 27 avril vous en saurez plus sur l'actualité de la recherche GRI, vous pourrez entendre les derniers développements des cliniciens, des chercheurs et des familles concernées. Inscrivez-vous aujourd'hui et « payez ce que vous pouvez » ➡️ ➡️ ➡️ https://curegrinfoundation.salsalabs.org/2024gricon #GRIconference2024 #CureGRIN #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Families like ours know that GRI Awareness isn’t just one dedicated month in our lives. To continue to spread awareness year-round, head over to our spreadshirt shop and check out our new GRI gene specific shirts! #gridisorders #grin1 #grin2a #grin2b #grin2d #grin3a #gria1 #gria2 #gria3 #gria4 #grik1 #grik2 #Linkinbio #linkincomments
🎉1ère rencontre des familles GRI France ! 16 familles ! 🫶 Lucie, Mahé, Gabriel, Paolo, Ezechiel, Emmy, Anna, Inès, Alexis, Morgane, Arthur, Marius, Ilona, Andréa, Aymeric, Ysée ! 💜💙🧡 #1èreédition #rencontredesfamillesgri #grifrance #familyportrait #rartistes #enfantsgri #gria2 #grin1 #grin2a #grin2b #grin2d #différentsmaisensemble #avenir #espoir #curegrin
Article du 29 mars 2024 - Présentation de l'association GRI France par Lucile Vanweydeveldt - Ouest France #association #grifrance #ouestfrance #curegrin #collaboration #belleaventure #bonnecause #soutiendesfamillesgri #gria #grid #grik #grin #communauté #gria2 #gri3 #grin1 #grin2a #grin2b #grin2d #grid1
7,654. That is the dollar amount I just found out it will cost for a years worth of the new medicine for Randy. That breaks down to $258 dollars for about 12 days of medicine. Our insurance is rejecting the main ingredient of the medicine. We can expect this medicine to take up to 12-14 months just to start affecting him. You can pray for my phone call with insurance this afternoon. That they will hear me out and see the need for this medicine for Randy. #grin2a #raredisorders #geneticdisorder
Thank you all for a fantastic #griawareness month! From sharing our posts and your beautiful stories, to lighting up buildings. We are eternally grateful. You can help us find treatments and cures for GRI Disorders by donating to CureGRIN today! #linkinbio or #linkincomments #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
Meet Kendall! Check out our Youtube channel to see one of our beautiful CureGRIN families tell the story of their daughter Kendall, who has a variant in her GRIN2D gene. #linkinbio #linkincomments #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
Espoir 💜🧡🩵 🖌️ #aquarelle, #encredechine, #marqueurs 👩🏻🎨 @alessandra_sada_arte pour @gri.france Ce mois de mars a été le mois international de sensibilisation aux troubles #GRI. À travers notre association GRI France, nous avons collecté des fonds, célébré notre communauté et œuvré pour la sensibilisation ! Des milliers d'enfants et jeunes adultes ont été diagnostiqués dans le monde avec des troubles GRI. Il s'agit de maladies rares génétiques neurologiques des récepteurs du glutamate. Avec GRI France, on assure soutien et information des malades et des familles touchées, on s'engage auprès de la recherche et de la médecine. Cette association et ces actions me tiennent particulièrement à cœur puisque mon fils Paolo est lui-même atteint de trouble #GRIN2B. J'ai donc voulu donner ma contribution à la clôture ce mois de mars, #gridisorderawarenessmonth, à travers cette #illustration riche en symbolique. #grin1 #grin2a #grin2b #grin2d #grin3a #gria2 #gria3 #gria4 #grik2 #griawarness #gridisorders #grifrance #maladierare #rarediseaseawareness @gri.france @curegrin_foundation @grin2bfoundation @associazione_grin2b_italia @gri_italia
Espoir 💜🧡🩵 🖌️ #aquarelle, #encredechine, #marqueurs 👩🏻🎨 @alessandra_sada_arte pour @gri.france Ce mois de mars a été le mois international de sensibilisation aux troubles #GRI. À travers notre association GRI France, nous avons collecté des fonds, célébré notre communauté et œuvré pour la sensibilisation ! Des milliers d'enfants et jeunes adultes ont été diagnostiqués dans le monde avec des troubles GRI. Il s'agit de maladies rares génétiques neurologiques des récepteurs du glutamate. Avec GRI France, on assure soutien et information des malades et des familles touchées, on s'engage auprès de la recherche et de la médecine. Cette association et ces actions me tiennent particulièrement à cœur puisque mon fils Paolo est lui-même atteint de trouble #GRIN2B. J'ai donc voulu donner ma contribution à la clôture ce mois de mars, #gridisorderawarenessmonth, à travers cette #illustration riche en symbolique. #grin1 #grin2a #grin2b #grin2d #grin3a #gria2 #gria3 #gria4 #grik2 #griawarness #gridisorders #grifrance #maladierare #rarediseaseawareness @gri.france @curegrin_foundation @grin2bfoundation @associazione_grin2b_italia @gri_italia
Meet Madi! Madi's mom says, "Meet Madi! She is currently 6 years old and in the first grade. She has a very sassy personality and the most welcoming smile." Read more about Madi and her life with GRIN1 #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Des chercheurs ont développé une thérapie génique qui cible GRIK2 pour le traitement de l'épilepsie du lobe temporal. Cette stratégie de thérapie génique n'a pas été utilisée pour le trouble GRIK ou toute autre mutation GRI, mais nous espérons que cette technologie pourra être appliquée à l'avenir. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Researchers have developed a gene therapy that targets GRIK2 for the treatment of temporal lobe epilepsy. This gene therapy strategy has not been used for GRIK disorder or any other GRI Disorders, but hopefully this technology can be applied in the future. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
GRIA4 est exprimé à des niveaux élevés dans plusieurs régions du cerveau, notamment le cervelet et l'hypothalamus. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Purple day is the international day for epilepsy and falls on 26 March each year. On this day, people across the globe come together to raise awareness of the condition and make a difference in the lives of people affected by epilepsy. Severe seizures are a common symptom of people with GRI Disorders. Some of the types of seizures seen in patients with GRI variants can include focal, absence, myoclonic, generalized tonic-clonic seizures. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
Les échantillons de patients peuvent être essentiels pour mieux comprendre les troubles GRI et trouver un remède. Parmi les bioréférentiels où sont stockés les échantillons de patients de GRI, figurent Simons Searchlight et COMBINEDBrain. Donnez aujourd'hui --> https://curegrinfoundation.salsalabs.org/fundraising/index.html?fbclid=IwAR3R8e53QIfEccgyvtIWbRikJ3OSPxy6jPB_rVE0cNPOkfniSf73umt-lB8 #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Patient samples can be critical to better understanding GRI Disorders and finding a cure. Some biorepositories where GRI patient samples are stored include Simons Searchlight and COMBINEDBrain. Donate today at #linkinbio and #linkincomments #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
Meet Paolo! Paolo is French-Italian, 11 years old and has #GRIN2B! He loves horses, washing machines, music and cartoons. He has a great sense of humor and is very endearing and sensitive. #gridisorders #griawareness #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Meet Morgan! Morgan's mom says, "Morgan is generally an extremely happy young lady who does laugh all the time! She is happy go lucky and takes everything in stride." Read more about Morgan and her life with GRIN1 #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Des chercheurs canadiens ont démontré que de nombreux symptômes de mutations des gènes GRI sont réversibles chez la souris adulte. Cela offre de l’espoir aux adultes vivant avec la maladie. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Meet Finley! Finley's mom says, "He’s a happy boy who is passionate about football and WWE, he has a wicked sense of humour and is so friendly and loving." Read more about Finley and his life with GRIN2A! #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
GRIN genes are connected to several diseases thought to be unrelated to GRIN Disorder including Alzheimer's Disease and Schizophrenia. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #griawareness #gridisorders
Les gènes GRI sont liés à plusieurs maladies que l'on pense sans rapport avec les mutations génétiques GRI, notamment la maladie d'Alzheimer et la schizophrénie. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Meet Jordyn! We are incredibly grateful to Jordyn for writing her story in her own words. Her GRIN2D diagnosis came after years of managing epilepsy. Read more about Jordyn and her life with GRIN2D! #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
De nombreuses personnes atteintes de mutations génétiques GRI ont des problèmes de vision, notamment une déficience visuelle corticale. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Meet Kaitlin! Kaitlin's mom says, "Kaitlin has touched so many lives with her sweet and silent smile, courageous determination and gentle demeanor." Read more about Kaitlin and her life with GRIN1 #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
次男お弁当 今年度最後のお弁当。入学したと思ったら光の速さで終わりを迎えようとしていることにビックリ。 ◉さつまいもと無添加ベーコンのコロッケ ◉ごぼうの梅煮 ◉ちぢみ雪菜の胡麻和え ◉卵焼き ◉ミニトマト ◉おにぎり（青海苔＆白胡麻／あみえび＆黒胡麻） ◉はっさく 今朝お弁当の中身を一通り食べさせて「美味しいし食べられるものだ」というのを分かってもらった。雪菜の胡麻和え作ったものの、見た目で残してしまうかもと予防線をはりました笑 その一手間があったおかげか完食してきてくれました！空っぽのお弁当を確認してから「全部食べてくれたの？」と聞くと、目がキラン✨そうだよ、オレ食べたんだぜ！…と言いたそうなニヤリ顔でした🤭 コロッケは、さつまいも潰して刻んだベーコン混ぜてハーブソルトで味付けて。小さく丸めて揚げたんだけど、これ美味しくできたなぁ💓 ごぼうの梅煮は最近インスタで見つけたやつ。梅干し好きな次男にピッタリなおかずです👍 #次男お弁当 #支援学校 #1年生 #頑張ってます #成長したね #完食 #ありがとう #コアラのピック #お気に入り #脳波異常 #grin2a みんなが良いというものでも、自分にとっては違うかもしれない。その逆もあるよね。何を選ぶのか…食も人間関係も、あれこれ理由つけずにシンプルでありたい。 なんか違う〜って思ったら、心地よいところに戻ればいいんじゃないかなと。今日の私は美味しいみかんを手に入れたのでご機嫌です🫶
Les chercheurs affirment qu’un remède contre les mutations génétiques GRI est probable. CureGRIN travaille en étroite collaboration avec des scientifiques et des médecins pour aider à trouver un remède ! Vous pouvez les aider en donnant aujourd'hui ! https://curegrinfoundation.salsalabs.org/fundraising/index.html?fbclid=IwAR35kTxJTSrmival1IjGJSH6WixsOZNizwRTTGbPIuKeur5pMdpa42dkIDw #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Researchers say treatments and cures for GRI Disorders are likely. CureGRIN is working closely with scientists, doctors, and drug companies to help find treatments and cures! Donate Today at #linkinbio or #linkincomments #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorder
Meet AJ! AJ's mom says, "Meet AJ! All of AJ's paperwork and report cards say the same thing, “AJ is such pleasant person, what a sunny personality." Read more about AJ and his life with GRIN2D #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Meet Wyatt! Wyatt's parents say, "We were told Wyatt would not live to see his 1st birthday. He is now 4 years old and still fighting!" Read more about Wyatt and his life with GRIN2D #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Meet Skylea! Skylea's mom says, "Skylea is a fighter and very motivated! She loves going for rides in the car, being outside and watching her favorite movie, Norm of the North." Read more about Skylea and her life with GRIN2D #linkinbio #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Happy 9th Birthday big boy, miss you! https://youtu.be/oTBGtHFeTBk?si=i3h4LaDKAYeto4ES #mitochondrialdisease #mitowarrior #hypotonia #grin2a #epilepsy #tubefeeding #globaldevelopmentaldelay #wheechairkids #corticalvisualimpairment #lossofachild #nonverbal #nonambulatorykids #cutesmile😊😍 #nofilter
Aujourd’hui, c’est le jour de la sensibilisation à la mutation du gène GRIN2D ! Les mutations du gène GRIN2D peuvent entraîner une déficience intellectuelle, des troubles du mouvement et des convulsions. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
What a better time than #GRIAwareness month to share our resilient families as they let us know the reality of living with a #GRIdisorders #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 Jackie says, "There are moments, days, seasons where watching a loved one struggling with GRI feels so overwhelming and insurmountable. There are many days I despise this disorder. However, and this is a big however, getting to walk through the pain and unknowns and difficulties has also made the bright spots brighter. Being in community with other champions of kids is one of the greatest gifts. I’ve never met such passionate, driven, dedicated people. “Mess with our kids and we will destroy you” type people. And I love it- I’m so grateful to fight alongside these GRI warriors and their warrior families. And while the dark days are dark, we have seen miracles: doctor connections, appointment openings, results we didn’t expect, hopeful research findings. While I would likely want to erase the hurt and difficulty our girl endures daily, it has shaped her in beautiful ways and it’s also shaping her siblings and us, her parents, in ways we’d never learn had it not been for something so challenging and out of our control. While I think all of us hate this disease with a passion, we also can share gratitude not for it…but for invaluable life lessons and for the bond we have as a family and community."
De nombreuses personnes atteintes de mutations des gènes GRI ont des difficultés à manger et certaines ont besoin de sondes d'alimentation pour se nourrir. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Les mutations génétiques GRI ne semblent généralement pas dégénératives, toutefois, des convulsions graves peuvent entraîner des pertes d’acquisitions des apprentissages et des troubles du développement. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders #grifrance
Meet Kaelin! Kaelin's mom says, "Her adventure was nothing like I dreamed it to be…but just as she always has, she is tackling this head on, with no regrets, and a smile on her face." Read more about Kaelin and her life with GRIN2A at Kid Stories #linkinbio or #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Meet Sofia! Sofia's mom says, "Sofia is the most lovable little girl ever! She has beautiful red hair and big blue eyes and her eyes speak for her." Read more about Sofia and her life with GRIN2A at Kid Stories #linkinbio or #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Meet Victoria! Victoria's mom says, "She loves to swim, gymnastics, sing, and now she is learning to play piano. She is our inspiration and our hero." Read more about Victoria and her life with GRIN2A at Kid Stories #linkinbio or #linkincomments #gridisorders #griawareness #welovesomeonerare #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2
Today is GRIN2A Awareness Day! Individuals with GRIN2A are more likely to develop seizures and less likely to develop severe intellectual disability compared with patients with variants in other GRIN genes. We have noticed an interesting correlation between Cece's seizures and her behavioral issues. During growth spurts her seizure activity seems to decrease but her self-injurious behavior increases. Unfortunately Cece's self-injurious behavior and aggression are still the most life limiting symptoms she struggles with. Cognitively, she has made huge strides over the past year. She is using short sentences and answering open ended questions- like what she would like to eat. Her memory recall is incredible and she has learned her colors in Spanish. Physically, she has gained more weight over the past 6 months than she had in the past 3 years and is solidly in size 5 clothes now. She has learned how to use a fork, spoon, and big girl cup- although she still makes a mess with them and prefers using her hands to eat. Some goals we have for this year are: 1. Working on potty training (so far it has not been remotely successful) 2. Tolerating headphones so we can try to mitigate sensory overload, and 3. Hopefully using the headphones to start taking her in public with less meltdowns and self harm. #ceceblue #curegrin #GRIN2A #griawareness #epilepsy #epilepsyawareness #asd #autismawareness #selfinjurious #thisis5 #gridisorder #raredisease #ouroneinamillion
Today is GRIN2A Awareness Day! Individuals with GRIN2A are more likely to develop seizures and less likely to develop severe intellectual disability compared with patients with variants in other GRIN genes. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIN3A #GRIA1 #GRIA2 #GRIA3 #GRIA4 #GRIK2 #griawareness #gridisorders
In recognition of our GRIN2A GIRL! Love you Princess Aurora! #RoraStrong #GRIN2A #CureGRIN