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#rarediseases

Posts tagged as #rarediseases on Instagram

23.956 Posts

4 year ago today...We got the official diagnosis for my boy....Dravet syndrome. 💔. If I could give advice to my former self or any newly diagnosed...I would tell you, don’t allow the fear to stop you living in the present and never ever lose hope. That day my world shattered but 4 year later my boy is thriving and much more than I ever imagined back then. The fear never goes but you learn to live with it, and I don’t allow it to interfere with our lives...life is for living and that, we are doing ❤️❤️ He absolutely loves his little life and so happy and content. I couldn’t be more proud of him and everything he has achieved and overcome. #wegotthis #dravetsyndrome #seizures #epilepsy #rarediseases #neverlosehope
Myositis wristbands on the whole crew Santa Barbara CC baseball team 👏🏽 much appreciated @church2ill  @sbccvaquerobaseball  #myositisawareness #myositisfirstpitchcampaign #friendshelpingfriends #rarediseases #santabarbara #rarediseases #findacure #curejm #beonksby
{ Exciting News! } The Scar Project SA . I am so excited to share with you this very exciting initiative  and passion project called The Scar Project SA. . The main aim of the Scar Project is to encourage self-love and self-acceptance. We will also be raising awareness and funds for a very special NPO. More info to be revealed soon! . I will be sharing more with you in the coming weeks! Please follow our project with #scarprojectsa . For a chance to be part of the project email me at info@rosegarnet.co.za www.rosegarnet.co.za
With EASTER right here upon us ... I know that’s just gonna be another time for family and friends to gather 2gether ✌🏻👯‍♀️ for LOTS of Food & Fun right ?! Yeah so , as I sit here drinking my water let me just give ya a few tips to HELP you get thru EASTER without making some serious nutrition mistakes.. Tips :  Water first💦 .. drink it up before during & after the shindig 🥳 Veggies MOST: eat a salad 🥗 first OR make sure you have more veggies than candy or chips  Bigger cup of WATER 💦 , smaller Plate  Remember that Piece of Cheesecake is a TREAT not a CHEAT 🧠  Ok that’s all for today ! I LOVE YOU SEXY ZEBRA’s & I MEAN IT ♥️🔥🦓
The first few years after I got my diagnosis "juvenile ALS" in 2006, I didn't really want to deal with the subject. I was dreading to get to know more about the disease and its course on the Internet! Too many awful details are described there and horrible pictures of an imminent future would have wanted to nestle in my head. .  I felt like dealing with it would paralyze me even more, and I noticed that a certain distance can be helpful.  I decided not to concentrate on imagining my future in the darkest colours and not to be too depressed about it, but to use the time while I was physically still in such a good shape and able to experience and do things, and take deteriorations one by one as they come. And I think that was a good decision. .  I'm not saying „repressing reality“ is the right way. But I think keeping a certain mental distance can help you to slowly come to terms with the subject and accept it. .  Today I can concentrate on the things that are relevant now or in the near future with an unclouded view, talk about them and inform myself, without getting hysterical. I can deal with the illness and its course in a way that sometimes amazes others, but also partly disturbs them: Many people wonder and ask me how I can be "so positive despite this cruel diagnosis". .  I would answer that it is certainly also due to this balance between "facing reality" and "not driving yourself crazy much too early". A certain mental distance can keep your head sane. Maybe easier said than done, but it has worked for me so far. .  PS: On the subject of "always being positive" - no, that's not always the case with me either... however, thoughts about this will follow in a future post. .  Picture taken at Crater Lake National Park in Oregon. . . . . . . #personalgrowth #als #alsawareness #endals #alssucks #fuckals #raredisease #rarediseases #disability #disabilities #disabilityawareness #mentalhealthawareness #mentalheath #facereality #wheelchair #wheelchairgirl
Emotional moment at the charity gala of @metakids , raising funding to stimulate research and innovation to solve metabolic diseases - the nr.1 childhood killer disease. To prevent parents from losing their children. Provide children a better chance to survive! @bobby.en.robine , @jwschermerhorn , thank you for inviting me to be part of this special night. We from SocialGenomics MOONSHOT are with you! Are you with us as well? Do you know people ....Sharing =caring.
#luccayayoudas ha crecido en torno a la labor social, desde muy pequeñito ha tenido contacto con todas las causas de la fundación, sabe sus historias, conoce sus nombres y se relaciona con la labor. Lucca es un niño que al crecer será empatico al padecer de los demás, estamos seguros que estas experiencias lo harán a futuro un hombre de bien. . . Enseña a tus hijos desde pequeños, la importancia de hacer labor social. . #ayoudaslovers  #ayoudaspanama #ayoudas #enfermedadesraras #enfermedadeshuerfanas #genetica #genes #rarediseases #raredisease #ayudasocial #fundacion #organizacionsinfinesdelucro #causasocial #ayudaalprojimo #ongs #foundation #humanitarian #panama
Ollie with one of this year's roses for AHC. [swipe through to see more] . Two years ago we made our first handmade roses on behalf of @ahcspain for the popular Catalan celebration of Sant Jordi (Saint George), when men and women exchange books and roses. to raise money for the  Spanish Association of AHC (@ahcspain) is back with their handmade roses for the popular local celebration of Saint George (Sant Jordi). 🌹  In the last 2 years AESHA raised more than € 15,000 with these roses, which helped finance a couple of international research projects.  This year we have two designs and we hope you will continue with the tradition of buying our handmade rose to raise more money for research. This year the proceeds will go towards the AAV-mediated gene therapy project for AHC.  If you're in Barcelona next Tuesday 23 April, stop by our stand on Av. Mistral (between Rocafort and Calabria streets) where we will be selling our felt roses, or visit the stand outside Escola Pía de Sant Antoni school on Ronda Sant Pau (close to Mercat de Sant Antoni), where teachers will be selling their paper roses for AHC Spain.  Do you want to order your Sant Jordi rose? Send me a private message here.  Thank you! 🌹 📷 @ from.bee.to.you . #rosassolidarias #santjordi #rosasdesantjordi #solidarity #solidaritat #rosessantjordi #handmade #hechoamano #roses #charity #alternatinghemiplegiaofchildhood #hemiplejiaalternantedelainfancia #rarediseases #enfermedadesraras #barcelona
Enjoy the Easter weekend 🐰❣️ Love you all, Cuba 😘 #easter #gutfeeling #easter #ilovechildren #resilience #rarediseases #shadowhunters #zurich #nevergiveup #london #linz #blacknose
Great news! My 3rd #thyroidsurgery has been booked for 2nd May in Oxford #churchillhospital -just 2 weeks! . they opened an extra surgery session in the day, to fit me in sooner as it was urgent. So happy! Nervous and can’t stop smiling with relief- Hopefully soon we can get on with our lives as a newly married couple-we haven’t even been on our honeymoon yet, because I’ve been so unwell 😂 . Just thinking about how lucky I am🥰-A week after we got #married last year June 22nd, I had #majornecksurgery to attempt to cure my #rarediseases; the operation failed to cure me back then, and I’m currently still #chronicallyill #chronicallyfabulous with off the chart dangerous levels of #highcalcium, but now luckily, I’m soon having a 3rd major surgery, with UKs top experts in #churchill #hospital in Oxford🥳 to top it off? I have the BEST Hubbie and I’m very lucky #wifey💝  #thirdtimelucky #tripdownmemorylane  #hypercalceamia #scarsarebeautiful  #chronicallyfabulous  Looking at this photo reminds me of how much #love embraces me, in day to day life; I’m so lucky to have such incredible support, to keep me strong when times get tough💝 . We’ve had a bumpy rollercoaster ride for our first 3/4 year of marriage-many soaring highs, and a few scary dips-I feel very lucky that it’s made us stronger, together 💝 you never know, we might get to go on a lil #honeymoon soon😅🥳 #thursdaythoughts  #mrandmrs #mr&mrs #justmarried #inlove #fallinginlovemoreeveryday #fallinginlove #hubbieandme #hubbie #lovelivelaugh #livelovelaugh
This is just the latest in my collection of Hospital Wristbands. Kept them all, they are many, but fortunately not too many!  It's important for me don't to forget, isn't a matter of self-harm...it's a special memory! Sometimes I need to remember how difficult my past was to better appreciate the present. Sometimes, when I'm not feeling well, I remember having succeeded. Days have passed when I believed that physical and the mental pain, was too strong to arrive at the next day...Instead... I've always done it! I haven't learned enough from my hospital admissions. I didn't like those moments, I could talk to my roommates...but I didn't!  I complained about the food, the bed, the noise... everything🙈. But... if there's one thing I always appreciated is the scent of my home🏡 after weeks away from my bed, a fragrance that I learned to appreciate only after my distance! #italianhospital #hospital  #hospitalbed #intensivecare #intensivecareunit #septicshock #septicshocksurvivor #disease #raredisease #survivor #malattieraregenetiche  #malattierareinunafoto #malattierare2019  #malattieraresulweb  #rarediseasefoundation #rarediseasewarrior #rarediseases  #rarediseasesurvivor  #rarediseasefighter  #rarediseasecommunity  #follower #followers  #followbackalways  #likeforlike  #like4like #instagood  #follow4follow  #f4f #followback #followforfollow
🦚 Imagina 🍂 #tbt 2014 🔙 . 🌞 Imagina despertar CADA DÍA, y no tener la bendición de estar segura que podrás: . Tomar una Ducha🚿 . Ir a alguna tienda 🚲 . Comer alguna Comida 🥗 . La peor parte es que  Nadie sabe siquiera que estás Constantemente en una Batalla, te veas como te veas por fuera. . 🆘Necesitamos aún 700$ para viajar a Colombia y solicitar nuestras visas y recibir mis alimentos y medicamentos para poder viajar a USA.🆘 . ⚠️ ESTA ES UNA SOLICITUD URGENTE, NECESITAMOS TU APOYO.  COMPARTIR ESTA PETICION POR TUS REDES AYUDA MUCHO. ¡GRACIAS DE ANTEMANO! . @mienfermedadinvisible .  www.gofundme.com/arlensiumienfermedadinvisible . . . . . #pots #syncope #ehlersdanlossyndrome #ehlersdanlossyndromes #gastroparesis #chronicillness #mastcellactivationdisorder #mastcell #mastcelldisease #mastcellactivationsyndrome #angioedema #anaphylaxis  #invisibleillness #dazzletogether #dysautonomia #rarediseases #gofundme . . #venezolanosennewyork #venezolanosenmiami  #venezolanosenorlando  #venezolanosenpanama #venezolanosentexas #venezolanosenhouston #venezolanosenusa  #venezolanosendoral
Thank you @raysofsunshinecc & @mralfieboe for giving Josh & Seb an amazing experience last night, singing with the RoS choir & making a wish come true for my eldest son @liam_24601 getting to meet Alfie during sound check before going off to sing on the @chrissybshow with @annakennedyobe #proudmum #singers #performers #charity #choir #makingmemories #rp #pcd #rarediseases #autism
We Are Happy To Inform Everyone That Veer Choudhary Is Going Facebook Live Today For The Very First Time. He Will Be Speaking About His Up Coming Webseries - Lets Inspire With Veer And The Special Theme For Season 1- Rare Warriors. All Of You Are Invited To Join Him On His Facebook Page Via The Link - https://m.facebook.com/09veerchoudhary/ (Link In the Bio)  Get A Chance To Ask Him Anything About The Show Live. #veerchoudhary #actor #webseries #season1 #rarewarriors #facebooklive #facebook #socialawareness #letsinspirewithveer #youtubeseries #rarediseases #creatingawareness #delhi #mumbai
#архивное #флешмоб  День легочной гипертензии 2018 ______________________________ #pah #pulmonaryhypertension #pulmonary #pulmonaryhypertensionawareness #phaware #phawareness #phbelarus #pahbelarus #raredisease #rarediseases #лгбеларусь #флешмоб2018 #легочнаягипертензия #легочнаягипертензиябеларусь #легочныезаболевания #лёгочнаягипертензия #редкиеболезни #редкоезаболевание #редкиезаболевания
Don’t be fooled; that love is mutual although Teddy is much more open about his adoration of his big brother “cow-win.” Shares everything, gives any new toys to him first, and always wants to be just like him. But whenever Teddy’s in the hospital, Calvin asks first thing where his Teddy is and when will he be back home to snuggle. #brothers #battlebuddies #brothersofinstagram #raredisease #bros fighting #rarediseases together forever. #chronicillnesswarriors #zebrastrong #showyourstripes #showyourrare #hopeisinourgenes #raregeneticdisease @globalgenes @nord_rare @thinkgenetic @jackgivesback @idckeylargo @special_needs_siblings #everylifefoundation @rarediseasefdn @rare_advocates @shinelightonrarediseases @rarediseaseunited #lifethreatening disorder #differentnotless #lovewins @advocatelikeamother
AADCd Treatment  There are medications available that can help to alleviate the symptoms of AADCd. However, as each child can experience different reactions, it is incredibly important that these are carefully considered and only recommended by an AADCd medical expert.  Of those children able to tolerate medication there have been varying reports as to degrees of improvement - some positive but many negative.  There is also lack of evidence or understanding into the long term effects of these medications.  #rareaware #awareaboutrare #raredisease #rarediseases #rarediseaseawareness #specialkids #specialneedskids #specialneedsaustralia #queenslandchildrenshospital #womenandchildrenshospital #familiesofaustralia #australianfamily #australianfamilies #specialneedsaustralia #specialkidsaustralia #jacksbutterflies #rarefamilies #rarechild #rarechildren #rarekids #livingwithraredisease #livingwithrare #aadcawareness #aadcdeficiency #aromaticiaminoaciddecarboxylasedeficiency #aadcddeficiency
AADCd Facts  The first 2 children (twins) received the AADCd diagnosis in 1992.  Since then approximately 130-150 children have been diagnosed worldwide.  AADCd affects males and females equally.  It is an autosomal recessive trait. Every gene consists of two alleles - one from the father and one from the mother. With AADCd each parent must have a bad AADCd allele in order for the disorder to be passed on to their child.  #rareaware #awareaboutrare #raredisease #rarediseases #rarediseaseawareness #specialkids #specialneedskids #specialneedsaustralia #queenslandchildrenshospital #womenandchildrenshospital #familiesofaustralia #australianfamily #australianfamilies #specialneedsaustralia #specialkidsaustralia #jacksbutterflies #rarefamilies #rarechild #rarechildren #rarekids #livingwithraredisease #livingwithrare #aadcawareness #aadcdeficiency #aromaticiaminoaciddecarboxylasedeficiency #aadcdeficiency
Necesitamos tu apoyo compartiendo esta petición. Mi hija necesita urgente salir del país porque tiene varias condiciones delicadas . Repost @mienfermedadinvisible ¡Desliza para ver cómo avanza si no se ataca! . ⚠️ A n g i o e d e m a ⚠️ . Esta condición es letal si no se trata a tiempo, comienza así y luego avanza, en mi caso llega a la Anafilaxia, y dejo de respirar. . En Venezuela no existen medicamentos para esto (nunca han existido), es más grave que ser muy alérgica. . Yo debo tomar 4 tipos diferentes de  antialergicos a diario para evitar cosas cómo está, igual tengo reacciones pero no son tan severas. . El calor (se dañó mi aire con los apagones), la falta de medicinas, las picadas de zancudo, dieta incompleta etc, empeoran esta condición (y todas). . Hoy pude tomar una que me saca de la crisis pero no las evita. Hace un mes dejé de tomar un suplemento que evita mis peores crisis con esta condición que aún no han evaluado especialistas en enfermedades raras, pero que desde bebé me ha causado millones de reacciones, muchas muy peligrosas. . Ya mi país no es lugar donde yo puedo vivir. 💛💙💔 . 🆘Necesitamos aún 700$ para viajar a Colombia y solicitar nuestras visas y recibir mis alimentos y medicamentos para poder viajar a USA.🆘 . ⚠️ ESTA ES UNA SOLICITUD URGENTE, NECESITAMOS TU APOYO.  COMPARTIR ESTA PETICION POR TUS REDES AYUDA MUCHO. ¡GRACIAS DE ANTEMANO! . @mienfermedadinvisible .  www.gofundme.com/arlensiumienfermedadinvisible . . . www.gofundme.com/arlensiumienfermedadinvisible . . . . . #pots #syncope #ehlersdanlossyndrome #ehlersdanlossyndromes #gastroparesis #chronicillness #mastcellactivationdisorder #mastcell #mastcelldisease #mastcellactivationsyndrome #angioedema #anaphylaxis  #invisibleillness #dazzletogether #dysautonomia #rarediseases #gofundme . . #venezolanosennewyork #venezolanosenmiami  #venezolanosenorlando  #venezolanosenpanama #venezolanosentexas #venezolanosenhouston #venezolanosenusa
¡Desliza para ver cómo avanza si no se ataca! . ⚠️ A n g i o e d e m a ⚠️ . Esta condición es letal si no se trata a tiempo, comienza así y luego avanza, en mi caso llega a la Anafilaxia, y dejo de respirar. . En Venezuela no existen medicamentos para esto (nunca han existido), es más grave que ser muy alérgica. . Yo debo tomar 4 tipos diferentes de  antialergicos a diario para evitar cosas cómo está, igual tengo reacciones pero no son tan severas. . El calor (se dañó mi aire con los apagones), la falta de medicinas, las picadas de zancudo, dieta incompleta etc, empeoran esta condición (y todas). . Hoy pude tomar una que me saca de la crisis pero no las evita. Hace un mes dejé de tomar un suplemento que evita mis peores crisis con esta condición que aún no han evaluado especialistas en enfermedades raras, pero que desde bebé me ha causado millones de reacciones, muchas muy peligrosas. . Ya mi país no es lugar donde yo puedo vivir. 💛💙💔 . 🆘Necesitamos aún 700$ para viajar a Colombia y solicitar nuestras visas y recibir mis alimentos y medicamentos para poder viajar a USA.🆘 . ⚠️ ESTA ES UNA SOLICITUD URGENTE, NECESITAMOS TU APOYO.  COMPARTIR ESTA PETICION POR TUS REDES AYUDA MUCHO. ¡GRACIAS DE ANTEMANO! . @mienfermedadinvisible .  www.gofundme.com/arlensiumienfermedadinvisible . . .
. . Tolerancia. . Durante todo este tiempo que hemos vivido con muchos cuidados y pocas salidas con #marcelo , ha sido todo un reto respetar su infancia, entender sus actitudes , llenarnos de paciencia para respetar su ritmo evolutivo. . Aún cuando no sabíamos el diagnóstico , por sus valores constantemente bajos y sus enfermedades recurrentes , limitábamos mucho las salidas , cuidando el ambiente , la temperatura , las posibilidades de contagio, llevábamos su comida a donde fuera para proveerle la mejor calidad  de soporte a su cuerpo por aquello de que #marcelo es un niño de bajo peso y lo que come debe ser de alto valor nutricional  y con las mejores condiciones higiénicas. Así que pasábamos y pasamos aún mucho tiempo en casa y el trabajo es arduo !. . No solo se trata de alimentación física , se trata de su alimentación emocional ! Mama y papa deben estar siempre dispuestos  emocionalmente para el ! Juego , nutrición epidérmica, necesidad de ser escuchado , aprendizaje , explicaciones ! Todo debe ser provisto por papá y mamá. . Confieso que no ha sido fácil ! Muchas veces perdí la paciencia ! Pasar de tener una vida activa e independiente a estar en casa, a cargo de labores domésticas y cuidando 24 - 7 a mi hijo ha sido todo un reto. Más, porque no quiero hacerlo como sea , quiero hacerlo perfecto ! Quiero y necesito proveerle de todo lo que necesita emocional y físicamente . . No se trata de solo estar en casa , alimentarlo y cuidar su higiene , también necesito atenderle emocionalmente y allí es donde está el gran reto. . Como todo niño , #marcelo exige atención todo el día ! Quiere jugar , pregunta cosas , necesita ayuda ! Quiere no solo que le responda , sino que lo vea a la cara y me siente con el a dedicarle tiempo a el exclusivamente ! Tiempo de calidad!. Además cosas que a todas nos pasan , como : " No me quiero cepillar los dientes , no quiero ponerme los zapatos , no me quiero peinar , me quiero poner esto o aquello " etc
. . Tolerancia. . Durante todo este tiempo que hemos vivido con muchos cuidados y pocas salidas con #marcelo , ha sido todo un reto respetar su infancia, entender sus actitudes , llenarnos de paciencia para respetar su ritmo evolutivo. . Aún cuando no sabíamos el diagnóstico , por sus valores constantemente bajos y sus enfermedades recurrentes , limitábamos mucho las salidas , cuidando el ambiente , la temperatura , las posibilidades de contagio, llevábamos su comida a donde fuera para proveerle la mejor calidad  de soporte a su cuerpo por aquello de que #marcelo es un niño de bajo peso y lo que come debe ser de alto valor nutricional  y con las mejores condiciones higiénicas. Así que pasábamos y pasamos aún mucho tiempo en casa y el trabajo es arduo !. . No solo se trata de alimentación física cuerpo , se trata de su alimentación emocional ! Mama y papa deben estar siempre dispuestos  emocionalmente para el ! Juego , nutrición epidérmica, necesidad de ser escuchado , aprendizaje , explicaciones ! Todo debe ser provisto por papá y mamá. . Confieso que no ha sido fácil ! Muchas veces perdí la paciencia ! Pasar de tener una vida activa e independiente a estar en casa, a cargo de labores domésticas y cuidando 24 - 7 a mi hijo ha sido todo un reto. Más, porque no quiero hacerlo como sea , quiero hacerlo perfecto ! Quiero y necesito proveerle de todo lo que necesita emocional y físicamente . . No se trata de solo estar en casa , alimentarlo y cuidar su higiene , también necesito atenderle emocionalmente y allí es donde está el gran reto. . Como todo niño , #marcelo exige atención todo el día ! Quiere jugar , pregunta cosas , necesita ayuda ! Quiere no solo que le responda , sino que lo vea a la cara y me siente con el a dedicarle tiempo a el exclusivamente ! Tiempo de calidad!. Además cosas que a todas nos pasan , como : " No me quiero cepillar los dientes , no quiero ponerme los zapatos , no me quiero peinar , me quiero poner esto o
Thank you @mabrisarodriguez for helping in spreading Myositis awareness #myositisawareness #myositisfirstpitchcampaign #friendshelpingfriends #rarediseases #muchappreciated #selfieoftheday
Hey so today was my first day home ALONE after my hospitalization... that just means Nick is at work Wow the weather has been freakin gorgeous today & it’s been good for my soul ☀️& Eko’s too!  I did a workout today that I have done in the past with great results but I came back to it today because I know the benefits: it totally challenged my brain 🧠 body 🤸🏼‍♂️ coordination & balance... all things I seriously need after a hospitalization of high ammonia levels 🦓 I gotta keep my brain in peak function ! Oh I AM still Learning how to get all back in balance ! I am still Learning NEW recipes right for me & how to be the Best Version of ME & how to Be the Best COACH for YOU .. I don’t have it all figured out but I promise you this one dagum thing ... I am gonna Keep Showing up for ME & I’ll still be in your News Feed ... & you can keep scrolling or keep creeping but one Day You are gonna Be Brave enough to crack that glass ceiling of Your Comfort Zone & say “ alright Lauren , I’m tired of living sick & tired , I’m tired of feeling like a zombie 🧟‍♀️ I want to be Healthy With YOU ! I AM your ride or die Sexy Zebra !! “ 🧠I AM STILL LEARNING 🧠 Virtual accountability group opens up 4/29 📲💻 I’m ready to see YOU show up for YOU ♥️🔥🦓
Nobody has ever said that this life will only bring you rainbows; I can promise you today that it’s not always sprinkles and sparkles. ✨ There are tornadoes, volcanoes, earthquakes, and tsunamis that you face in certain chapters of your life. And again, some days a little rainfall will catch you off guard, but don’t you ever lose hope amidst those adversities. ✨ Remember, it is these struggles in your life that are shaping you into the person that you were always meant to be, the person you were destined to become. I know now what I didn’t know then… ✨ Without my struggles, the small ones and the big ones, I would not be the person I am today. I sit here now and look at these difficult chapters in my life as some of my biggest blessings in disguise. ✨ There is a lesson to be learned in every pain, in every struggle, in every battle you face — within the world and within yourself. • • • • • •  #selfdsicovery #personalgrowth #liveyourbestlife #believeinyou #moveforward #mindfulnessmeditation #intentionalliving #purposefulliving #disabledpeoplearehot #musculardystrophyawareness #musculardystrophy #musculardystrophyassociation #bodypride #confidencequotes #loveyourselfquotes  #chronicillness #motivationalspeaker #inspirationalquotes  #rarediseases #theuniversehasyourback #spiritjunkie #stevenhawking #disabledcommunity #roses  #lifecoach #inspirationalleader #girlboss #naturalbeautysupply
I'll be running the New Hampshire Rare Disorders Association’s 3rd Annual Hoofbeats 5K to raise awareness of rare disorders! 🦓 Saturday, June 1, 2019 NHTI, Concord’s Community College, 31 College Dr., Concord, NH 03301 Register at http://www.lightboxreg.com/hoofbeats-5k_2019 🦓 This is a special event for me as a couple years ago my mom was diagnosed with Ehlers Danlos Syndrome or EDS for short. 🦓 The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. 🦓 I have made a team, Heidi's Heroes, and anyone is welcome to join!
Join us next Monday, April 22nd at 5:30pm ET for a podcast on Managing Adult Urological Issues.  Visit the event page on our website myelitis.org to register and submit questions for the experts.  #podcast #rare #rarediseases #tmapodcast #asktheexpert #adem #afm #mog #nmo #on #tm
I can't count the number of times a doctor has looked me right in the eye and told me my symptoms or side effects do not exist. Rather than saying "I've never heard of this," I've repeatedly heard "that doesn't happen" or "that's impossible"...often followed by a comment, blaming it on an insulting catch-all factor like "stress." Doctors don't realize how psychologically damaging these flippant declarations are to their patients with complex chronic illness who come to them in a deeply vulnerable and impressionable state. I've even been told my side effects were impossible when they were listed in the top 5 adverse reactions right in the drug literature! Blatant denial of a patient's legitimate experience has become the norm in medicine, but it's a monumental roadblock in the healing process. You cannot heal someone by denying their reality. A patient's personal narrative holds the key to recovery, yet doctors often toss out relevant details in hopes of neatly placing the patient into a preconceived category. It's one of the biggest problems I've encountered in my journey and I know I'm not alone (feel free to repost if it's happened to you!). Cheers @hannah.davisbennett for the image.
Recently, T.E.A.M. 4 Travis was contacted by Carolin Meier of Germany, as her son Richard died at only 22 months of age in September 2017. His story is sadly almost identical to Travis. In Carolin’s words, Richard was always taller, stronger and more persistent than other children of his age. Carolin describes Richard as a happy child, active, adventurous and constantly in motion. Like Travis, Richard lived every day to the fullest, embracing life, love and happiness. Also like Travis, Richard developed a sudden onset of a high fever followed by sepsis and died a few hours later, despite receiving medical attention. Carolin and her husband have started an initiative in Germany, working with leading immunologists and geneticists to advance the research of Primary Immunodeficiencies, especially Isolated Congenital Asplenia. ⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀⠀ From their website, www.pid-erkennen.de, Carolin speaks of their goals:  In the memory of our son Richard, we endeavor to advance the research of Primary Immunodeficiencies in general and Congenital Asplenia in particular. Each case can help to create a screening program that can be used to diagnose early, as spleen screening is not part of a newborn or pregnancy screen. Affected children are otherwise inconspicuous.
Reste encore un peu de neige récalcitrante... mais le printemps est enfin arrivé « pour vrai ». Passé la mi-avril, il était temps! J’ai dormi tout l’avant-midi sur le sofa, effet de l’introduction d’un nouveau médicament... pas trop grave présentement, et dans une semaine avec la chirurgie oculaire ce sera en plein l’idéal, de dormir... mais si ça continue comme ça je crois que je vais cesser. En attendant, je voyais le soleil dehors et qu’il faisait enfin assez chaud... mais ça m’a pris beaucoup de force mentale et de coups de pieds au c... pour m’habiller et sortir. Je suis complètement à plat, encore en crise biliaire (évidemment) et avec les douleurs... pffff. Mais le soleil et l’air frais vont sûrement faire du bien! #ehlersdanlos #rarediseases #maladiesrares #gastroparesis #gallstones #springishere #enfinleprintemps #abitofsnowleft #unpeudeneige #zebrastrong #spoonie #tired #épuisée
Ellos son felices, nosotros aún más, nuestros niños con enfermedades raras de origen genético, pasan tantas adversidades, ellos necesitan pasar momentos de distracción y por unos momentos olvidar su condición.  #sindromedemorquio #sindromedemarfan #ayoudaslovers  #ayoudaspanama #ayoudas #enfermedadesraras #enfermedadeshuerfanas #genetica #genes #rarediseases #raredisease #ayudasocial #fundacion #organizacionsinfinesdelucro #causasocial #ayudaalprojimo #ongs #foundation #humanitarian #panama
HGPS is a rare (1/4.000.000), fatal, genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. It’s caused by mutations of the LMNA gene. The patients look normal at birth and in early infancy, but grow more slowly and do not gain weight at the expected rate. They develop a characteristic facial appearance; prominent eyes, a thin nose with a beaked tip, thin lips, a small chin and protruding ears. HGPS also causes alopecia, aged-looking skin, joint abnormalities, and a loss of fat under the skin. Patients with HGPS experience symptoms of aging in the beginning of their childhood such as severe hardening of the arteries which increases the chances of having a heart attack or stroke at a young age. Children with progeria die of heart disease at an average age of 13 years, with a range of about eight to 21 years. #raredisease #rarediseases #progeria #hutchinsongilfordprogeriasyndrome #hutchinson
Hoy Melanie #sindromedemarfan Abraham #sindromedemorquio y #luccayayoudas se conocieron, hoy ellos compartirán una tarde de pizza, cine y postres.  Melanie sólo ha ido al cine una vez, hace años, Abraham nunca ha ido a una sala de cine. Amamos verlos felices y vivir nuevas experiencias junto a nosotros.  #ayoudaslovers  #ayoudaspanama #ayoudas #enfermedadesraras #enfermedadeshuerfanas #genetica #genes #rarediseases #raredisease #ayudasocial #fundacion #organizacionsinfinesdelucro #causasocial #ayudaalprojimo #ongs #foundation #humanitarian #panama
Hemophilia week!  Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally. #hereditary #hereditarydisorder #coagulation . #hemophilia #hemophiliaawareness #hemophiliac #haemophilia #haemophiliac #haemophiliaawareness #bleedingdisorders  #bleedingdisorder #bleedingdisorderawareness #hemofilia #blooddisorders #hemotology #clotting #hunt #hiv #study #insurance #instastudy #instainsurance . #rarediseaseoftheweek #rarediseaseawareness #rarediseases #rarereality #rarediseasewarrior #showusyourrare #careaboutrare
Proud to be a simple flower. Proud to make bees happy and people smiling. Did you smile about a flower today?  #smile #proud #happy #rarediseases #gutfeeling #ilovechildren #zurich #spring #bee #flower #resilience #london #linz
Advances in genetic testing technologies over the past few years have made it possible for clinicians to provide a genetic explanation for nearly 25% of all cases of #autism.  This is an astonishingly large increase from a little more than a decade ago, when the rate of genetic diagnosis was less than 3%. But to keep improving our understanding of the genetic basis of autism, scientists and families need to work together to share genetic data. 🔬Find out more at the link in the bio. 🎨: @chadhagen  #autism #autismawareness #autistic #actuallyautistic #genetics #rareconditions #rarediseases #genes #genetictesting #lifesciences #science #biology #neuroscience #diagnosis #spectrum
Awareness Wednesdays - Raising awareness of Pfeiffer Syndrome! - Pfeiffer Syndrome is a #genetic condition which affects facial features, gross motor skills and cognitive development. - Pfeiffer Syndrome is a #spectrum, and affects different #children in #different ways. - Riley is 7 years old and LOVES #drawing. She is incredible at drawing all sorts of people with all the details in their outfits! Riley has Pfeiffer Syndrome and has specially made glasses to fit on her face so she can see her pencils and pens. Riley has special #pink leg braces, or #afo #orthotics, to help her #walk. She can walk with tripod sticks, a backwards #walker, and has a cool set of wheels to #explore #outdoors and go on #adventures with her #friends. - www.bumblebeephysio.co.uk - #buzzinginlondon #bumblebeephysio #rarediseases #awareness #differentlyabled #pfeiffersyndrome #superheroes #kids #fun #play #fashion #artist #art #neuro #neurorehab #physiotherapist
Die ÖHG wünscht euch allen einen frohen - und vor allem gesunden - Welt-Hämophilie-Tag 2019! #whd #rarediseases #bleedingdisorders #haemophilie #hemophilia #bluter #oehges
💚#Repost @ayoudaspanama (@get_repost) ・・・ Las enfermedades raras aquejan a pocos, pero son tantas que afectan a muchos. .  Por ser poco frecuentes no son conocidas y mucho menos investigadas, la comunidad ignora su existencia, los enfermos son discriminados, sin posibilidad de cura ni tratamiento, quienes las padecen desarrollan fortalezas más allá de lo imaginable para poder sobrellevarlas, los familiares reinventen sus vidas para adaptarse y lograr dar soporte a un ser querido cuya enfermedad no tiene antecedentes.  Encontrar médicos que sepan detectarlas y darles un tratamiento, es aún más raro que las propias enfermedades.  Los pocos que se dedican a investigarlas lo hacen sin recursos, impulsados por su pasión y una vocación humanitaria.  Por eso tanto los pacientes, sus familiares, los médicos e investigadores que buscan aliviarlas, como los miembros de asociaciones y voluntariados podemos decir que: .” . LO RARO NOS HACE EXTRAORDINARIOS. . . Si los gobiernos se suman otorgando más recursos y beneficios a pacientes y asociaciones, los laboratorios aportan con investigación y medicamentos más accesibles, la comunidad se informa creando un ambiente de integración, si más médicos se interesan por aprender para diagnosticar a tiempo y dar tratamientos mejor enfocados y más de nosotros nos interesamos por estas enfermedades que quizás ya tenemos o nuestros hijos las padecen sin aún haberlo descubierto.  Seremos aún muchos más los que podremos decir que: . . LO RARO NOS HACE EXTRAORDINARIOS. . #ayoudaslovers  #ayoudaspanama #ayoudas #enfermedadesraras #enfermedadeshuerfanas #genetica #genes #rarediseases #raredisease #ayudasocial #fundacion #organizacionsinfinesdelucro #causasocial #ayudaalprojimo #ongs #foundation #humanitarian #panama
I was inspired by this @i_weigh Instagram account and I saw so many people that shared their story for #rarediseaseday and with the hashtag #showyourrare.  If you want to share your story send me a dm with a picture 🙂 I think it would be great if we can support each other and raise awareness about Rare Diseases. Maybe it will help someone 😊 #rarediseases #iamrare #maladiesrare #selteneerkrankungen
There is beauty and value in all rarity. #rarediseases #fabry #berarebeyou #whitetiger #findthebeauty
🧬Las enfermedades raras aquejan a pocos, pero son tantas que afectan a muchos. .  Por ser poco frecuentes no son conocidas y mucho menos investigadas, la comunidad ignora su existencia, los enfermos son discriminados, sin posibilidad de cura ni tratamiento, quienes las padecen desarrollan fortalezas más allá de lo imaginable para poder sobrellevarlas, los familiares reinventen sus vidas para adaptarse y lograr dar soporte a un ser querido cuya enfermedad no tiene antecedentes.  Encontrar médicos que sepan detectarlas y darles un tratamiento, es aún más raro que las propias enfermedades.  Los pocos que se dedican a investigarlas lo hacen sin recursos, impulsados por su pasión y una vocación humanitaria.  Por eso tanto los pacientes, sus familiares, los médicos e investigadores que buscan aliviarlas, como los miembros de asociaciones y voluntariados podemos decir que: .” . 🧬LO RARO NOS HACE EXTRAORDINARIOS. . . Si los gobiernos se suman otorgando más recursos y beneficios a pacientes y asociaciones, los laboratorios aportan con investigación y medicamentos más accesibles, la comunidad se informa creando un ambiente de integración, si más médicos se interesan por aprender para diagnosticar a tiempo y dar tratamientos mejor enfocados y más de nosotros nos interesamos por estas enfermedades que quizás ya tenemos o nuestros hijos las padecen sin aún haberlo descubierto.  Seremos aún muchos más los que podremos decir que: . . 🧬LO RARO NOS HACE EXTRAORDINARIOS. . #ayoudaslovers  #ayoudaspanama #ayoudas #enfermedadesraras #enfermedadeshuerfanas #genetica #genes #rarediseases #raredisease #ayudasocial #fundacion #organizacionsinfinesdelucro #causasocial #ayudaalprojimo #ongs #foundation #humanitarian #panama
Can’t believe the beautiful support that keeps rolling in on here and on YouTube. We are having another rough patch but every single time I pick up my phone I’m overwhelmed to see you guys sending us such lovely messages. It wouldn’t have happened had we never thought to start YouTubing. Love you guys. Thanks for the support. Shocked after a hard week to see we are at nearly 3000 followers here and 7000 subscribers on YouTube. We hope you all know how much it means to us. Seriously it means the world. My aim is to raise Dusty into a world that would be kind towards her differences and disabilities and every day I see she’s helping create that world herself with all your help. Thanks for sharing our videos and pictures 💕💕💕#youtubers #vlogger #vlog #chronicillness #eds #ehlersdanlossyndrome #gastroparesis #feedingtube #rarediseases #microdeletionsyndrome #microduplicationsyndrome #cerebralpalsykids #cpwarrior #cerebralpalsy #osteopenia #disabled #disabilityawareness #autism #autistic #asd #actuallyautistic #girlshaveautismtoo #pinsforstims
Can’t believe the beautiful support that keeps rolling in on here and on YouTube. We are having another rough patch but every single time I pick up my phone I’m overwhelmed to see you guys sending us such lovely messages. It wouldn’t have happened had we never thought to start YouTubing. Love you guys. Thanks for the support. Shocked after a hard week to see we are at 7000 subscribers on YouTube. We hope you all know how much it means to us. Seriously it means the world. My aim is to raise Dusty into a world that would be kind towards her differences and disabilities and every day I see she’s helping create that world herself with all your help. Thanks for sharing our videos and pictures 💕💕💕#youtubers #vlogger #vlog #chronicillness #eds #ehlersdanlossyndrome #gastroparesis #feedingtube #rarediseases #microdeletionsyndrome #microduplicationsyndrome #cerebralpalsykids #cpwarrior #cerebralpalsy #osteopenia #disabled #disabilityawareness #autism #autistic #asd #actuallyautistic #girlshaveautismtoo #pinsforstims
🌺Dnes je svet pod taktovkou červenej. Pripomíname si Svetový deň hemofílie, zriedkavej nevyliečiteľnej choroby, ktorá spôsobuje poruchu zrážania krvi🔴. Pokiaľ po zotmení natrafíte na stavby osvetlené na červeno, tak vedzte, že je to práve kvôli tomu! Budú medzi ne patriť aj Dóm svätej Alžbety v Košiciach, Most SNP v Bratislave či Divadlo Andreja Bagara v Nitre.  #svetovydenhemofilie #worldhemophiliaday #zriedkavechoroby #rarediseases
Človek si zdravie nevyberá. Včera som musela pre môj zápal pľúc odísť do nemocnice, tak mi držte palce, 40tky teploty sú strašné. Želám Vám príjemné sviatky plné radosti, ja skúsim potešiť mojich spolubývajúcich ☺️ . . . . #corneliadelangesyndrome #health #syndrome #rarediseases #genetickesyndromy
Ph. @Aldo_giuliani . . . 🧸 Precisamente un anno fa scattavo queste foto, in mezzo al 5º mese, alla 20+4... le nausee erano andate vie, ma svenivo, almeno un paio di volte al giorno mi sentivo mancare, dopo 4 giorni avrei avuto la morfologica, l’aspettavo con ansia e da lì pensavo che sarebbe andato tutto bene e che sarebbe stato tutto in discesa. 🧸 Oggi ho il mio figlioletto qui con me, perfetto nella sua imperfezione, non c’è niente di più bello e importante al mondo 🧸Sarà ed è il mio piccolo eroe 🦸🏼‍♂️, il mio leoncino 🦁 . Il suo babbo ed io sempre lo accompagneremo, gli faremo forza e cercheremo di insegnargli che sempre ci si rialza, che non bisogna abbattersi e che a tutto c’è una soluzione o una via d’uscita. Se per tanti sei uno su 150.000💙 per noi sei UNICO e SPECIALE. Te amo hijo. . . . #mamalife #momtobe #enea #leone #caracciolo #pregnancy #teamohastaelinfinitoymasalla #caracciolos #imrare #rarediseases #amoregrande #babyboy #mamaehijo #newmum #tummylove #momgoals #boymom #pregnantphoto #postpartum #pregnantbody 🧸
What is hemophilia? Hemophilia is a rare inherited condition that affects the blood's ability to clot effectively.  Hemofilia é um distúrbio genético hereditário no qual o sangue não coagula como deveria. #hemofilia #diamundialdelahemofilia#hemofiliakids #hemophiliaawarenessmonth#hemophiliaday #love#help #profilaxis#whf #hemofamily #hemofamilia#rarediseases #cienegapharmacy#hemophilia#hemp#care
These are products we have until today Mugs and a single bag design, it seems little , but as mother of young person with special needs and that we are learning, it is a great achievement. Thanks to each of the people who have bought us or shared their support has been very important. We continue working and learning. Thank you 🙏 . #tatoandmom #entrepreneur #rarediseases #fanconianemia #anemiadefanconi #inclusion #mugs #canvastotebags #piggylovers 🥰🐽🐷Estos son nuestros productos que tenemos hasta el día de hoy , diferentes tazas y un solo diseño de bolsa , parece poco pero como madre de un joven con necesidades especiales y que estamos  aprendiendo , es un gran logro. Gracias a cada una de las personas que nos han echo una compra o nos han compartido , su apoyo es muy importante para nosotros, Nosotros seguimos trabajando y aprendiendo. Gracias, Gracias, Gracias. 😍🐷🐽🤜🤛💪
World Hemophilia Day is held annually on April 17, date of the birthday of Frank Schnabel, founder of the World Federation of Hemophilia.  ##worldhemophiliaday #neev #dieticianvijeta #bangaloredietician #awarenessraising #reachout #rarediseases #9886396056

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