Come follow us on our new TikTok account! The link is located in our Bio— we will begin uploading educational Fabry Disease videos soon! Thanks, The NFDF Team (Jerry, Casey, & Hannah) #fabry #fabryawareness #fabryawarenessmonth #fabrydisease #fabrydiseaseawareness #fabrydiseaseawarenessmonth #raredisease #nationalfabrydiseasefoundation #nfdf
May is Myositis Month. Check out my story on The Myositis Association website ➡️ https://www.myositis.org/blog/tell-your-story/ #thisisme #myositisawareness #dermatomyositis #may #adovocate #themyositisassociation #myositissupportandunderstanding #myositisawarenessmonth #chronicillness #autoimmune #spoonielife #raredisease #spreadawareness #findacure #mystory #rarebutnotalone
As someone with a rare disease, it felt especially fitting to visit the NC zoo today and see these beautiful animals up close and personal. May is Ehler’s Danlos Awareness month, and the zebra is our symbol because doctors are taught in medical school that if they hear hoofbeats behind them, they should not expect to see a zebra. Yet, some of us have rare diseases and are zebras, myself included. We live with connective tissue issues, chronic pain, issues with scarring, and often a constellation of other related concerns like POTS, MCAS, dental issues, injuries, and more. Accommodations like using mobility devices and service dogs can help. Massage therapy has been the biggest game changer for me. I also carry electrolytes with me everywhere, practice daily qigong, wear a heart monitor watch, eat a high sodium diet, and keep an epi-pen handy. Several supplements are also helpful, and I do my best to listen to my body and respond to its changing needs. Sometimes I am successful at that, and other times not so much. #raredisease #ehlersdanlossyndrome #heds #edsawarenessmonth #edsawareness #disabilityawareness #massagetherapy #edszebra #zebrasofinstagram #nczoo
Huge shoutout to our current Golf Tournament Sponsors! 🏡 Colorado Urban Living 🌟 Avery’s Light 👁️ Lash & Co ⚙️ ALTEN Technology ⛓️💥 Ideal Fencing Corp 📝 StateFarm - Agent Joe Chrisman 🌸 Wolff Landscapes 💧 Lange Containment 💃Move by Morelli 🏠 Re/Max - Irene Smith 🧑🧑🧒🧒 The Huggenberger Family 👫 Stan and Lori Lentz 🎰 The Lodge Casino If you’re interested in sponsoring the event this year please reach out! There is a little over 1 week left to take advantage of early bird player registration pricing as well! Thank you to our incredible sponsors without whom this event will not succeed! #curekinleyandkennedy #raredisease #curegm1
Thank you to all who participated in the RARE Drug Development Symposium with us and the Orphan Drug Center of Pennsylvania. Over two days, we fostered connections, collaborations, and valuable insights that we hope have equipped you with actionable next steps and fresh knowledge to share within your community. @mdbride4rare #RDDS #CareAboutRare #RareResearch #raredisease
Shout out to @jacfavale with Sunny Days Speech Therapy! Your support to our beehive and to Beckett has been nothing short of amazing! Your creative Easter fundraiser was a total blast, and we can’t wait to see you at the walk! #iamtsc #tscwarrior #hopeisnotcomplex #tuberousslerosiscomplex #tsc #beckettsbeehive #geneticdisorder #stepforwardtocureTSC #tscstrong #charityevent #shepherdstown #jeffersoncountywv #fundraisingevent #raredisease #stepforward4tsc #tscalliance #sunnydaysspeechtherapy #beehivesupporters
FREE UPCOMING EVENT! MAY 17TH REGISTER NOW! Ask questions, get support. https://www.nourishtherapeuticyoga.com/pro.../special-events Gain insights into Dr. Eleanor Stein's comprehensive approach to assessing and managing Chronic Complex Conditions and explore the science of neuroplasticity. Discover the evidence-based benefits of therapeutic yoga with Shannon Williams, a certified yoga teacher. Taught from the lived experience of ME and Dysautonomia. Shannon's passion is adapting yoga to meet your body where it is at, in order to empower those with chronic health conditions to successfully participate without exacerbating their symptoms. #chronicpain #chronicillness #autoimmune #disability #raredisease #geneticdisorder #spoonie #spoonielife #spooniecommunity #spooniesupport #medicallife #medicallifestyle #joyandpain #chronicillnessawareness #chronicillnesses #chronicillnesssupport #chronicpainandfatigue #chronicpainwarrior #chronicpainawareness #mecfs #longcovid
Right now YOU have the chance to WIN all three of these amazing vehicles! Swipe for more details on each! Comment WIN for the Storyteller Beast MODE Van Comment: CURE for the Shelby GT 500 Comment: ADVENTURE for the Tundra TRD Pro & Backroads Trial Series Trailer All of these fundraisers support our mission to cure childhood blindness! Your entry into this fundraiser will immediately help us fund a clinical trial that could save our son's eyesight and thousands of kids like him. FOLLOW: @a.race.against.blindness and please SHARE! #ARaceAgainstBlindness #bardetbied| syndrome #blindness #visionloss #retinitispigmentosa #raredisease #findacure #BlindnessAwareness #BlindnessCure #VisionForAll #CureBlindness #DonateForSight #shelbygt #fordperformance #expeditiontrailers #overlandadventure #overlanding #AdventureforSight #vanadventures
My last conference as a PhD candidate. I was happy to present my work about Uveal melanoma novel in vitro models and drug combinations to the 12th Irish melanoma forum 2024 and I was awarded best poster presentation. It has been an incredible journey. #uvealmelanoma #research #raredisease #phdlife @dcu_lsi
Happy #NKHAwarenessDay! This is the last post for today - thank you to everyone who took the time to read about these kids, to look at their faces, to know their names. Every single person featured today is so loved. We’ve posted today because kids with NKH have been through so much, and deserve a better hand that they’ve been dealt. Thank you to everyone who has donated. These funds will be used to bring about CHANGE for NKH kids. This is Mikaere, he has NKH. Please, please donate for kids like Mikaere: Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2023 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
My Erythromelagia (EM) Story: Erythromelagia is rare chronic disorder caused by a malfunctioning of the nervous system. It can cause burning heat, pain and redness in specific parts of the individual - mine is face and ears. My flare ups, as seen in the image above, occur every day and have been since late November 2022, with symptoms ramping up last summer. It’s estimated to affect 1 in 100,000, with suicide/mobility rates significantly increased. Sufferers of aggressive cases can end up disabled, and wheelchair/home-bound for life. It’s incurable with no specific test or treatment currently available. Since it started, my life has been countless drugs, tests, lifestyle changes, and a mental battle that is worse than the illness itself. I was medically discharged from a job I was thriving in. Simultaneously, medications that are not designed for EM (but can help) left me only with side effects. One making me hugely depressed/anxious. I often dissociated from reality and mourned my old life. After a year and a half of hardship, it has also yielded the blessings. From grounding to self-validation, I would probably despise the person I was before (‘cause where is your perspective on life old me!?) Having to push myself mentally and recognising the privileges of being able-bodied fills me with gratitude and a clear sense of what truly matters in life. I’m feeling positive about the future with a heat therapy showing signs of relieving my symptoms. I feel the need to talk on my experience this one time and no longer invite the shame I had when coming to terms with this disorder. By supporting others in the small EM online communities, knowing my own experiences/knowledge have provided comfort to fellow sufferers and parents of young children enduring similar challenges is extremely rewarding. I have insane love for those in my life who remained steadfast by my side throughout it all. Their unwavering support when I had little to give in return - I will always cherish it.🫶 On that note, stop worrying about today as tomorrow you could wake up with a rare disorder no one has heard of.🤪 #Erythromelalgia #RareDisease #RareDiseaseAwareness #EM #ChronicIllness
🌟 The good, the bad and the ugly stares🌟 Today, while taking a breather from my hectic workday on Instagram, I stumbled upon two powerful posts. One from @thispinklifelive, urging parents of disabled kids to venture out in public without hesitation, and another from @toren.wolf, advocating for kindness towards stimming. We’ve always taken Jules everywhere with us. His disabilities aren’t always immediately obvious, which has made outings easier for us. But as he grows, his needs become more apparent. At six, he’s non-verbal, in diapers, and relies on a pacifier for sensory comfort. Thinking about his future needs is daunting, especially knowing we’ll encounter more stares and judgment. We’re fortunate to live in Belgium, where the approach to disability is generally positive. But despite this, we still hesitate to go places with Jules. Past negative experiences and traumas linger, and the fear of judgment persists. In public, people often don’t know how to react to Jules. But there’s one look that warms my heart: the understanding exchanged between fellow parents of medical kids. It’s a silent acknowledgment that says, “I see you, I understand.” While none of us chose this journey, finding solidarity in difficult moments is invaluable. Sharing these experiences on Instagram is not just about raising awareness—it’s also therapeutic. Writing about our journey helps me process my emotions and connect with others who may be going through similar challenges. 👉 #ParentingJourney #SpecialNeedsParenting #raredisease #specialkids #specialneeds #parentingdisability #parentingdisabledkids #parentingdisabledchildren #neurodivergent #specialneedsfamily #disabledkids #medicalparents #youhooverfong #youhooverfongsyndrome #youhooverfonglooksgreatonthiskid #inclusiveparenting #acceptancematters #specialneedscommunity #empathyinaction #taylorswift #shakeitoff
finally had a spring break that was really a break! My nurse was on vacation, so no infusion 🤞🏽 here’s a few videos of my most recent accesses 💪🏽💪🏽💪🏽 infusions 184-186 #morquio #morquiosyndrome #hellomynameisreed #morquioa #morquioawareness #rallyforreed #rally4reed #morquiostrong #rarediseaseadvocate #raredisease #rarewarrior #mps #mpsiv #rareparenting #rarediseases #rarediseaseawareness #nord #mpssociety #rareparenting #differentnotless #newbieruby #rubythewreck #postspica #postspicacast #hiprecovery #beawareofrare @thisjustinn @sweetcar0lyn @rally4reed
Happy #NKHAwarenessDay! This sweet girl is Chloe. Chloe gained her angel wings in December, and is so loved and fiercely missed. Chloe had NKH, just like Mikaere. Please donate for kids like Chloe + Mikaere: May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Happy #NKHAwarenessDay! This beautiful boy is Kane. Kane will be 7 years old in September and lives in Burleson Texas with his momma and his Nena (me). Kane is on the severe end of the spectrum but still has the sweetest personality. He loves kisses from mommy and Nena. He loves watching Peppa Pig and even sometimes snorts like Peppa. Kane loves to rock and snuggle with Nena in the recliner but he’s gotten too big so Nena climbs in his bed to snuggle with him instead! Kane has NKH, just like Mikaere. Please donate for kids like Kane + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Happy #NKHAwarenessDay! This is Billy. He turns 2 in May. He loves oatmeal, his blanket, and the sound of coughing. Billy’s arms and legs are always moving and Billy is for the most part a very happy child ❤ Billy has NKH, just like Mikaere. Please donate for kids like Billy + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Fifteen Days of Facts for a Cure #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #goingblue4acure #hopeisnotcomplex #themoreyouknow #knowledgeispower #tscawarenessmonth #tscglobalawarenessday #findacure #tscalliance
We’re approaching the end of 2024’s first quarter, and we're thrilled to be able to say the year is off to a great start for the future of rare diseases. 🌟 In various areas, from new drug approvals to research on emerging treatments to healthcare advocacy, there are several areas of progress that have caught Know Rare’s attention. Read on to discover some of the year’s early highlights in rare disease news. 'Why 2024 Is Already an Encouraging Year for the Rare Disease Community' now on The Know Rare Blog! (link in bio) - #medicalresearch #raredisease #rarediseases #rarediseaseawareness #rarediseaseadvocacy #clinicaltrials #clinicalstudies #clinicaltrial #KnowRare
Thank you @pete.sciabarra! I appreciate your words of praise for Living Fierce book!📕🚀🔥 ❤️🛡️⚔️ 💪 . . . . #praderwillisyndrome #pws #austimspectrumdisorder #autism #raregeneticdisorder #raredisease #livingfiercebook #livingfierce #youarenotalone #weareinthistogether #caregiver #caregiversupport #nicu #nicumoms #nicuparents #nicudad #shield #wegotthis #rarewarrior #warriormom #fierce #fiercewomen #fiercemom #fiercecommunity #disabilitysupport #disabilitycommunity #disabilityservices #specialneeds #specialneedsmom #specialneedsparenting
Update : Elise is taking meds. Our trick for now is dipping the smile cookies into her pudding mix that contains her crushed pills. We are happy to share that Elise is scheduled for Friday, May 10th, for her g tube surgery. (Feeding tube) This will be a game changer for us to make sure her meds are given to her consistently and be able to hydrate her when needed. The last week, I felt like I was no longer surviving this fight of getting meds and liquids in, I was drowning trying to keep her medicated and hydrated. I am looking forward to this day so we can feel like we are thriving. So keep her in your prayers, send positivenees and healing vibes for her May 10th #purpleforelise Update : Elise is taking meds. Our trick for now is dipping the smile cookies into her pudding mix that contains her crushed pills. We are happy to share that Elise is scheduled for Friday, May 10th, for her g tube surgery. (Feeding tube) This will be a game changer for us to make sure her meds are given to her consistently and be able to hydrate her when needed. The last week, I felt like I was no longer surviving this fight of getting meds and liquids in, I was drowning trying to keep her medicated and hydrated. I am looking forward to this day so we can feel like we are thriving. So keep her in your prayers, send positiveness and healing vibes for her May 10th #purpleforelise #epilepsy #rarewarrior #raredisease #rarediseaseawareness #subcorticalbandheterotopia #doublecortexsyndrome #epilepsywarrior #epilepsyawareness #seizuressuck #postsurgery #deepbrainstimulation
Click the link in our bio @jaxlab for great coverage by @wfsbnews on the @thedenisefoundation walk held to raise awareness for #rarediseases, featuring our own @glambobross. JAX was pleased to be a sponsor and have a participating walking group this year:
Sign up now for our upcoming Community Group meetings. You can register using the link in our bio! #support #community #gorlinsyndrome #raredisease #gorlingoltzsyndrome
My last 30 hours… - First 12 hours sat in majors A&E - Transferred to a bed in A&E - 12pm today saw gastro consultant - 1pm Transferred onto a gastro ward. Bowel issues again 😫😫 …and this time to the EXTREME! Peristeen catheter no longer working, build up of stagnant water, pain beyond belief and non stop vomiting. I’m now on pain relief and IV’S. I’ve Been given Picolax and Enimas again with no success (what a surprise) and now unsure what else can be done. I’ve always been under the impression that there has been options but it doesn’t seem like this is the case any more! From what I can gather, the Enteric neuropathy has done its damage and nothing more can be done. 😭 Still in hospital and will speak to the Doctor in the morning! (I legit just wrote vet instead of doctor 😂) As you can see from the last picture, I’m still trying to smile through the utter ****show and find some light in the dark. ✨ Big loves!! 🫶🏻🫶🏻❤️❤️ . . . . . . . #gastroparesis #gastroparesisawareness #gastroparesisfighter💚 #entericnervoussystem #neuropathy #nervedamage #slowtransitconstipation #constipation #chronicconstipation #distensionabdominal #guthealth #guthealthmatters #pootaboo #peristeen #picolax #enema #inpatient #hospitalstays #ctscan #raredisease #neurobehçet #behcetsdisease #bowelhealth #mentalandphysicalhealth #mentalhealthawareness
🖐 Have you registered for the next #EHE Community Connections? Join Dr. Tamara Vesel, Chief of Palliative Care at Tufts Medical Center in Boston, MA, and her Research Assistant, MD/MPH candidate, Abigail Lebowitz for an interactive session exploring the topic of non-pharmacological management of cancer pain. Example topics that will be discussed include self-hypnosis, mindfulness, and behavioral interventions. All members of the EHE community are welcome! Registration is required. 🗓 Saturday, May 11, 2024 ⏰ 11 am - 12 pm ET 🔗 https://fightehe.org/community-connections-registration/ Dr. Vesel is a globally recognized palliative care specialist with expertise in pain and symptom management, integrative medicine, clinical hypnosis, and mindfulness in medicine. #pain #chronicpain #cancerpain #epithelioidhemangioendothelioma #ultrararesarcoma #EHEFoundation #theEHEFoundation #EHEcancer #justlive #sarcoma #raredisease #EHEcommunityconnections #communityconnections
⚠️ Grande Tombola de la semaine mondiale de sensibilisation aux maladies mitochondriales ⚠️ 💚 2 € le ticket 💚 💚Vous pouvez jouer en distanciel comme en présentiel 💚 À gagner : CAFETIÈRE NESPRESSO VERTUO PLUS BON D'ACHAT 50 EURO BON D'ACHAT DE 20 EURO À l'occasion de la Semaine mondiale de sensibilisation aux maladies mitchondriales qui aura lieu du 16 au 22 septembre 💚, nous lançons la grande tombola. Les tickets seront vendus à partir d'aujourd'hui 2mai et jusqu'au 22 Septembre minuit, le tirage au sort aura lieu en direct sur Facebook le 23 septembre. Nous comptons sur vous, les bénéfices aideront les malades et leurs familles et soutiendront surtout la recherche. #associationagm #mitochondrial #Mito #raredisease #maladiesrares #aideznous #tombola #semainemondialedesensibilisation #lightupformito
7 uger siden vi løftede vores elskede Merle for sidste gang.. Tiden er fløjet af sted, men alligevel været gået fuldstændig i stå. Det er svært at beskrive, udover det har været svært, ensomt, turbulent og forfærdeligt.. For hvordan finder man sig selv, nye rutiner, osv. når man lige har mistet sit fireårige barn. Det er svært og kommer til at kræve umenneskelig lang tid. Sorgen vil altid være en del af mig og min historie, men jeg skal lære og finde en måde at leve med sorgen på.. Det er svært at forstå, tankerne fylder konstant mit hovede med spørgsmål og prøver at finde en mening med alting. Men der er ingen.. For hvordan kan jeg tillade mig at leve, når mit barn skulle dø? - helt rationelt ved jeg godt at jeg skal leve for Timo og selvfølgelig for mig selv.. Men hvordan navigere jeg i følelsen af at vil genforenes med min datter, men være der 110% for min søn. Det er enormt svært, men jeg får den rette hjælp og støtte til at navigere i de mange tanker. Lige for tiden fylder ensomheden i sorgen enormt meget. Sorg reagere vi alle forskelligt på, ingen måder er rigtige, ingen måder er forkerte. Min psykolog sagde så fint til mig den anden dag “Sandra alle er ensomme i sorg” det gav enormt god mening da hun kom med forklaringen på hvorfor det ofres føles sådan. Men det er svært at fortælle mine tanker.. Udover alle de dumme tanker, har jeg også “glade momenter” . Jeg prøver at tillade mig at grine, smile, opleve - for jeg mærker også den positive påvirkning det har på Timo. Jeg håber jeg en dag kommer til at mærke Merles sjæl spirituelt eller drømme at hun leger og synger på regnbuerne. For lige nu fylder mareridt og jeg intet mærker😭 #forældreisorg #englemor #epilepsi #specialneedsmom #specialneedsfamily #raredisease #sorg
Dag 2 i Prader-Willis syndrome awareness month. Vilken pajas han är, vår James. Det finns ingen, absolut ingen men den humorn som den här killen har. Just nu är det jätteroligt att fakeskratta och han gör allt med glimten i ögat. Han är inte bara full av humor utan han är busig också, då har jag ändå haft Oskar tidigare. Oskar var överallt och ingenstans som liten, allt gick i en jävla rulle och han var sjukt finurlig. James däremot, han gör riktiga bus. Som många gånger är planerade från hans sida. Jag litar inte en sekund på honom. Som häromdagen, när han passade på att hälla ut ett helt paket med mjöl på golvet och sedan körde bilbana i mjölet. Men han åt inget och jäklar vad nöjd han var med sina spår i mjölet. Det är aldrig tråkigt med honom ♥️ #praderwillisverige #praderwilliawareness #praderwilli #praderwillisyndrom #praderwillisyndrome #praderwillisweden #praderwillisyndromeawareness #pws #pwswarrior #pwsawareness #sällsyntliv #kromosomklubben #kromosomavvikelse #raredisease #rareisstrong #rareisproud #rareismany #hungryforacure #livelifefull #fightthehunger #sällsyntdiagnos #barnmeddiagnos
Happy #NKHAwarenessDay! This is Nora. She is 7 years old and we live in St. James, Missouri. She loves loud noises and MAKING loud noises. She enjoys spending time with her family, baths, going for walks in her wheelchair, and Metallica! Nora has NKH, just like Mikaere. Please donate for kids like Nora + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
EDS & HSD awareness month 2024, day 2: What is EDS & HSD? I’ve explained what EDS and HSD are many times on this account so instead of boring you with lengthy explanations about it’s impacts on the different forms of collagen production in the body I thought I’d explain what MY EDS is! I’m here to discuss some stats about particularly cEDS, as I’ve mentioned in the past I’m diagnosed with COL1A1 classical Ehlers-Danlos syndrome, there are also type COL5A1 and COL5A2 and just like my post says 50 / 1,000,000 people are diagnosed with cEDS but to make it even more complicated only 1/4 of cEDS patients make up COL1A1 + cEDS patients compared to 3/4 having COL5A1 & COL5A2. So if we were to cut those statistics apart, we would get roughly 12 / 1,000,000 people who are diagnosed with my specific “ultra rare” variant. What are the main differences and similarities between these 3 different variants that all make up the same “type” of EDS? How are 3 different genetic codes all cEDS markers? I share almost all the same symptoms with typical classical Ehlers-Danlos syndrome patient while having an added layer of complications. For example, I am at significantly higher risk of cardiovascular complications, additionally I have a VERY fragile and delicate vascular system which puts me at high risk of tearing or rupturing arteries, rupturing blood vessels, developing blood clots and other various organ complications. At the same time every EDS patient is different and some folks with COL5A1/A2 experience the exact same symptoms I do, and some with COL1A1 are hardly impacted by their bodies specific mutation, it’s all completely individual and needs to be looked at case by case! When you start to think of chronic illness like a pie chart of symptoms instead of a linear spectrum then it comes together a lot more! [continued in comments] #ceds #myedschallenge #edsandhsdawarenessmonth #edsawarenessmonth #classicalehlersdanlossyndrome #raredisease #connectivetissuedisorder #connectivetissuedisease #cripplepunk #disabilityadvocate #raresiseaseawareness #chronicillness #chronicillnesswarrior #edslife #eds #complexillness #zebrastrong 🦓🖤🤍🖤🤍🦓
Happy #NKHAwarenessDay! This is Lucy, of Reno, NV, USA, age 9, is the light of her family. While considered “nonverbal” (better: multimodal), she is very chatty, loves to sing, and always perks up for Taylor Swift. Her school bus driver reports that Lucy often sings at volume 10 and the rest of the young bus passengers, also wheelchair users, have begun to join in, making for very loud and cheerful rides. Lucy is the subject of a feature documentary called ‘We Love Lucy’, which is available to stream for free on YouTube: https://www.youtube.com/watch?v=HPgH63HVri0 Learn more about Lucy on facebook: https://www.facebook.com/welovelucyfilm/ Lucy has NKH, just like Mikaere. Please donate for kids like Lucy + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Day two of #myedschallenge with @ehlers.danlos for Ehlers-Danlos Awareness Month! I have Hypermobility Ehlers-Danlos Syndrome which is one of many connective tissue disorders classified under Ehlers-Danlos. hEDS is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain. hEDS is also associated with a variety of other symptoms and related conditions that affect many different areas of the body. For me that means GI issues, bladder issues, and tachycardia among many others. hEDS is the most common type of EDS, accounting for about 90% of EDS cases. hEDS is currently classified as a rare disorder and is thought to affect at least 1 in 3,100 – 5,000 people. However, the true prevalence of hEDS is not known and may be underestimated. When I was first diagnosed in 2018 it was thought that it affected around 1 in 15,000 people. In the last few years the medical field has realized there are many more zebras than they originally thought! #hypermobilityehlersdanlossyndrome #heds #chronicillnessawareness #chronicpain #chronicpainwarrior #chronicillnesses #raredisease #disabilityawareness #disabilitypride #disabilityisnormal #disabledandcute
Do you have polycystic kidney disease (PKD)? The lovely Mae is part of the team and has shared her story to help raise awareness for future research. “My name is Mae, and as part of my role here at Kidney Research UK, I have the pleasure of regularly talking to inspiring people who are living with kidney disease and facing that challenge with courage and hope. I have polycystic kidney disease (PKD). My kidney disease is why I so passionately wanted to work at Kidney Research UK. My family has been impacted by this genetic condition for generations. I’ve seen a parent go through kidney failure and dialysis, and reckon with a future where I will go through the same ordeal. It’s been over 15 years since I got my diagnosis, and so far, my kidneys are still working fine. I have annual checks, but otherwise, I’m sort of living in denial about my condition. But that won’t last. My dad started to get really poorly with PKD when he was 40. I’m creeping towards the age where his kidney failure journey started. What motivates me at work every day, and what motivates many brilliant supporters like you, is the thought that together we have a real chance right now to change the future for the next generation. The research happening is astonishing. Breakthroughs take time. That’s why we need to double our efforts. We can’t let another generation face the same challenges with kidney disease. For me, kidney failure is a looming cloud that’s off in the distance, but every year it comes a bit closer. I hope that when the time comes, better treatments will be available than there were for my dad. For the next generation, I hope that PKD will not impact or hinder their lives at all.” Our research goal is to improve life for people with PKD and answer two questions: Why does PKD cause cysts to grow in the kidneys? What new drugs can better treat PKD? With your support, we can do this. Head to the link in bio.
Does it feel like a diagnosis of hATTR amyloidosis has turned your world upside down? This roadmap on the rare disease may help. Link in our bio to learn more. #hATTRAmyloidosis #hATTRAwareness #RareDisease
From being born with a rare disease and having 21 surgeries in her first 5 years of life…..to rock climbing!!! This girl is a serious beast and is just constantly loving her life through all the struggles. We can all learn so much from Zoya. So incredibly grateful for where we are. #zoyathewarrior #raredisease #pfeiffersyndrome #medicalmom #healthcoach #wellnesscoach #health #wellness #healthandwellness #rockclimbing #specialneeds #happybodyhappymind
This #mentalhealthawarenessmonth we are delighted to announce this important new project in conjunction with @raremindsuk , experts in the provision of counselling services for the Rare Community. Find out more by following the 'news' link, linktree in bio. #actionforxp #thisisxp #xerodermapigmentosum #raredisease #mentalhealth
After a really frustrating few days of no one understanding tetany I decided all I can do is to keep trying to educate and advocate for myself. So here’s some info on tetany, feel free to share to the world. The more people who understand it the easier my life will get! Tetany is a symptom many of us hypopara deal with on the regular, but we’re rare and the knowledge isn’t there in the medical world. No one understands unless they’ve experienced it. Imagine your muscles being pulled from your bones that’s what it feels like to me, it’s horrific. #Tetany #musclespasms #musclecramps #Pain #acutepain #painmanagement #calciummetabolism #electrolyteumbalance #studentnurses #medstudents #chronicillness #raredisease #invisibleillness #beingrareinireland #hypoparathyroidism #hypopara #Barakatsyndrome
Merci à Emilie Justeau qui court ce week-end au profit de notre Association Espoir de Noisette 🏃♀️🫶💪🌟 #vascularcompressionsyndromes #nutcrackersyndrome #mayturnersyndrome #SMAS #MALS #raredisease #rarediseases #syndromesdecompressionsvasculaires #syndromenutcracker #syndromecockett #syndromemayturner #syndromewilkie #syndromedunbar #syndromeligamentarquémédian #syndromedelapinceaortomésentérique #maladiesrares #maladierare #maladiesvasculaires #douleurspelviennes #douleursabdominales #syndrome #maladiechronique #maladieinvisible #douleurschroniques #espoirdenoisette
We have a new conference speaker! Dr. Evelyn Sutton is a confirmed speaker for our 2024 conference in St. John's, Newfoundland & Labrador! Did you know that she is a founding member of the Canadian Scleroderma Research Group (CSRG)? Interested in hearing her speak? Register NOW for the conference via the LINK IN OUR BIO! @sclerodermaatlantic @scleroderma_ontario @sclerodermaalberta #SclerodermaConference2024 #SConSpeaker #Scleroderma #RareDisease
🌟 A heartfelt thank you to our incredible Allies of the Force! 🌟 As we launch the first #HoFH Awareness Day, we extend our sincerest gratitude to our industry partners, whose unwavering support has fueled our mission and brings hope to countless lives. Together, we are a force to be reckoned with, and your partnership empowers us to make a meaningful difference every day. Let's #Unite4HoFH on May 4th. Thank you Andrew Davies @Arrowhead Ken O'Reilly @Chiesi Amanda Seeff-Charmy @Regeneron, Belen Gonzalez Sutil @Ultragenyx 🌟 #UseHeart to #KnowHoFH and #FindHoFH #FindFH This May 4th #MayThe4thBeWithYou #StarWars #RareDisease #AlliesOfTheForce #Gratitude
Hello tout le monde 🌸 L'Association Espoir de Noisette lance un nouveau concept pour remercier les Noisettes qui prennent le temps et font l'effort de nous soutenir dans notre combat ! 🫶 Des cercles de parole seront donc disponibles tout au long de l'année pour les membres actifs et adhérents, et les donateurs atteints de nos syndromes, afin d'échanger sur nos maladies et expériences, et d'aborder les thèmes qui vous tiennent à coeur. 🩵 Des ateliers avec des intervenants seront également proposés. Les cercles seront limités à 6 personnes par session afin que tout le monde ait l'opportunité et le temps de s'exprimer 📣 Et les ateliers seront ouverts à un plus grand nombre. 🌻 Pour vous inscrire ou obtenir plus d'infos, contactez-nous sur le compte Messenger ou Instagram de l'association ou à l'adresse e-mail suivante : [email protected] 💌 #vascularcompressionsyndromes #nutcrackersyndrome #mayturnersyndrome #SMAS #MALS #raredisease #rarediseases #syndromesdecompressionsvasculaires #syndromenutcracker #syndromecockett #syndromemayturner #syndromewilkie #syndromedunbar #syndromeligamentarquémédian #syndromedelapinceaortomésentérique #maladiesrares #maladierare #maladiesvasculaires #douleurspelviennes #douleursabdominales #syndrome #maladiechronique #maladieinvisible #douleurschroniques #espoirdenoisette
Thainná, Altair and Bernardo Vieira share their experience attending the NUCDF 2024 Family Conference: “The National Urea Cycle Disorders Foundation's 2024 Family Conference was a hugely important event for my family, as we had access to up-to-date information on scientific and medical advances related to UCDs, and also provided us with a supportive environment. I can highlight the importance of mutual support and the exchange of experiences between affected families. We find comfort and understanding in others facing similar challenges. Additionally, the Conference was an opportunity for us to learn about the latest advances in the treatment and management of UCDs, as well as connect with healthcare professionals who specialize in this area. It was a moment of hope and empowerment, where we received information and resources that will allow us to improve the quality of life of our child affected by ASA/UCD. It also served as a reminder of the importance of public awareness of these conditions and the continued need to support research and development of more effective treatments. We returned to our country with the certainty that we have many challenges to be faced, but we also realize that we are strong and resilient, and that having the support of NUCDF is essential for us to expand our knowledge and remain united in search of a better future for our rare.” #nucdf #familyconference #ureacycledisorders #raredisease
Trip down to the big smoke to present alongside Dr Rebecca Laposa on 2023’s Experiential Learning Project with her 4th year pharmacology students. (Madison Vanstone was missed) It was wonderful sharing our experience working with students and Community Partners in the Rare Disease space. Looking forward to another year working for the University of Toronto as a Partner Liaison. It was an experience both Madi and I are grateful for and we are inspired by the many students who joined their Partner groups to continue as volunteers. #raredisease #experientiallearning #universityoftoronto
Since our early days, The Sturge-Weber Foundation has been lucky to have amazing supporters advocating for our mission. With each supporter, the torch is passed, paving the way for the next generation. 🔥 We've reached out to SWF Champions to continue this momentum. Every supporter has a unique journey to share, and we can't wait for you to hear their wisdom. We aim to raise awareness and funds for SWS, KT, and PWB during SWF Month of Awareness and beyond, starting today and continuing until July 13, 2024. We are passing the torch to YOU, our SWS Warriors. So, are you up for the challenge? Let's do this! #SWSMonthofAwareness #SturgeWeberSyndromeAwareness #NonProfitAwareness #RareDisease @SWSWarrior
"There is now an approved treatment for #ASMD, olipudase alfa, and this enzyme treatment is given intravenously usually every couple of weeks. As you will see, it has been quite successful at treating the disease" - Neal Weinreb, MD Watch this activity and learn more on the i3 Health YouTube. #MedEd #OncEd #Oncology #CME #OlipudaseAlfa #EnzymeTreatment #RareDisease #MedicalResearch #RareDiseaseAwareness
Happy #NKHAwarenessDay! Lei è Aurora, ha 2 anni ed è Italiana. Ama stare in acqua e tra le braccia delle persone che ama! Non parla ma riesce a farti capire ciò che non le sta bene (non toccarle il viso altrimenti ti scaccia via!), ha proprio un bel caratterino! Aurora has NKH, just like Mikaere. Please donate for kids like Aurora + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
🛑 Padres y profesores, ¡estemos atentos y actuemos contra el bullying! 👀 Es crucial reconocer las señales: cambios de comportamiento, evitación de la escuela, problemas de sueño, signos de violencia física en nuestros chicos o sus materiales escolares, entre otros. Desde el colegio, fomentemos el diálogo abierto, la empatía y la inclusión para crear un ambiente seguro 📚. Desde casa, empoderemos a nuestros hijos para que conozcan sus derechos y sobre todo se sientan en confianza de conversar con nosotros 🤝. #DMD #Duchenne #DuchennePeru #raredisease #Bullying #antibulling
The theme of this year’s maternal mental health week is “rediscovering you”. The more I thought about this, the more I realised that presenting helpful ideas on “how to rediscover yourself” could become yet another pressure on the to-do list. Filed next to: lose weight, get fit, get some sleep. Every mum is short on time, but the number of tasks hanging over a mum with a maternal pituitary condition is utterly overwhelming. On top of all those parenting, home and work tasks comes a full time job of managing a dynamic and often unpredictable health condition. All the appointments, medicines, tests, pharmacy trips, unexpected infections, random new symptoms and living with the dragging fatigue and exhaustion. Continue reading Jenn's piece on how to rediscover yourself postpartum and with a chronic illness. Head to our blog page on our website, link in bio or https://maternalpituitarysupport.org/news-blog/my-take-on-rediscovering-you #maternalmentalhealthweek #hormones #womenshealth #maternity #postpartumhealth #pituitaryawareness #lymphocytichypophysitis #sheehanssyndrome #RareDisease #pituitarygland #femalehormones #HRT #hypopituitarism #postpartum #birthtrauma
Why should young adult patients care about patent reform? 🧐🧐 Check out our Patent Reform Primer! Many young adult patients with chronic and rare conditions will require a lifetime of access to treatments and therapies, ultimately costing them thousands and thousands of dollars. Unfortunately, many big pharmaceutical companies abuse loopholes in the patent system to increase profits, resulting in patients being unable to afford the medications they need and being denied access to more affordable alternatives. Our primer is meant to educate young adult patients in our community by briefly introducing the major patent abuse practices employed by brand-name pharmaceutical companies. Read more here: https://static1.squarespace.com/static/5c11eb6ab40b9daef16158a9/t/662931f725b0e539463577ab/1713975800476/Patent+Primer.pdf #generationpatient #HealthcareInnovation #DigitalHealth #InvisibleIllness #SpoonieLife #ChronicPain #AutoimmuneDisease #RareDisease #HealthAdvocate #Endometriosis #DisabilityAwareness #T1D #CFWarrior #MultipleSclerosis #ChronicMigraine #IBD #CrohnsDisease #EDS #mecfs #chronicallysick
Each year at Imagine & Believe, we recognize an individual or group who makes a significant and positive impact on the rare disease community. We proudly announce this year’s honorees are Buryk family members–parents Alexis and Bill, and twin daughters Katie and Allie, who both have Late-Onset Tay-Sachs disease, and eldest daughter Elizabeth and her husband Jonathan Rego. #gala #imagineandbelieve #diagnosis #research #awareness #community #connection #advocacy #support #taysachs #canavan #gm1 #gm2 #sandhoff #raredisease #rarelife #careforrare #rareisreal #familiesfirst #ntsad
TeleRare Health™ Announces Launch of National Virtual Clinic for Rare Disease Patients. Link to the press release in our Bio. #telehealth #raredisease #ehlersdanlos
May is #PKUAwareness month. Please join me and #flokyourfeed to raise awareness for this rare genetic condition. Visit flok.org/flokyourfeed to create your own unique member of the flok: celebrate yourself, a friend, or a loved one! #pkuawarenessmonth #flokhealth #phenylketonuria #PKU #pkuawarness #raredisease #inbornerrorsofmetabolism
Happy #NKHAwarenessDay! This is Luna King. She is 3 years old from Kentucky. Mild NKH. She is very verbal but has a low vocabulary. She is OBSESSED with frozen. Elsa mostly. This is the most loving child her Mama has ever met. It’s actually become a problem lol. She’ll hug any kid if they’re upset or crying. She just wants them to be happy. Luna has NKH, just like Mikaere. Please donate for kids like Luna + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Some nights are the ones I wake up in the middle of the night with dislocated joints and excrutiating pain because I got too relaxed while sleeping. And some days I blame myself for not being able to work, because my body just gave up today. Days like today, when I feel ok while laying down, but drain all my energy by walking the dog round the block, and have to hype myself up to not faint in the middle of the road and make it back home. Days like today, when I stutter, when I'm slow, when making lunch is a challenge. Most people don't see this side of me. Most people see the energetic, focused, encouraging, talking-too-much, and problem-solving me. Because those are the days I can actually leave the house. I'm glad there are more good days than bad ones. I want to do so many things, and I tell myself #selfcare is important. Yet I still feel guilty for taking a day off, because I do want to do all of the things, but some days my brain is foggy and my body is weak. Today is that some day. And May is #edsawarenessmonth Sending love to all those hypermobile #zebras out there. #eds #zebrastrong #ehlersdanlossyndrome #ehlersdanlos #raredisease #edsawarenessmonth2024
Say hello to one of our MOGAD community members, Jaxx! Jaxx doesn’t let his disease stop him from being the best fisherman he can be. His dad is there right by his side and they have a lot of fun together. Keeping your hobbies can be a challenge, but finding something even if it’s new or modified is just as important as managing your disease with treatments. 🌺 #mogadawarenessmonth #ivegotmog #MOGAD #MOG #raredisease #rarediseases #nonprofit #ms #support #caregiver #rare #disease #healthcare #patientexperience #advocacy #advocates #volunteer #awareness
May is EDS awareness month!! In the last week I've had to go for an endoscopy for my gastroparesis and get jaw botox for muscle spasms. It's 3 months since my surgery for endometriosis and I've had weekly physio, multiple post surgery complications and doctor visits along with planning visits to three other consultants. So as you can see EDS makes life super busy 😂 and despite it causing issues in every part of your body , many doctors still do not know or understand it or its co morbidities such as Postural orthostatic tachycardia syndrome, Mast cell activation syndrome, Gastroparesis, Mitral valve prolapse, all of which I have. This why raising awareness is so important! So share your stories, connect and help raise awareness this May 😍❤️🦓🖤🤍 #ehlersdanlossyndromeawarenessmonth #eds #ehlersdanlossyndrome #ehlersdanlossyndromeawarenessmonth #disabled #rare #zebrastrong #zebras #myedschallenge #myedsdiagnosis #raredisease #ehlersdanlossociety #healthjourney #hospitalselfie #surgery
Happy #NKHAwarenessDay! This is Jack, he turns 3 in June and lives outside of Boston, MA. He loves the color red, ALL music, silly farm animal sounds and being outside (especially in his swing or at the beach). He recently learned to wave and uses buttons to communicate “all done” and “more”. Jack is full of sunshine and lights up any room he’s in with his smile and frequent giggles. Jack has NKH, just like Mikaere. Please donate for kids like Jack + Mikaere. May 2nd is NKH Awareness Day - we’re asking instead of your daily flat white, please swap your coffee today for a donation towards NKH Research. Please. Please donate. £3. £5. £15. Whatever you are able. Every penny helps. #linkInBio Justgiving: https://www.justgiving.com/page/nkhawarenessday2024 #medicallyfragile #nkhawareness #nkhcansuckit #disabilityLife #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #seizures #teammikaere #nkhAwarnessDay2024 #someoneFundACure #nkh #ifhnkh #metabolicdisorder #cureNeeded #disabledKid #complexmedicalneeds
Exciting New! Last year, we had a silent auction item donated by @looksmarketsf where the winner would get to craft their own beer taste and outside can design. The winner, Katie Sterner, won it and gave it to her husband Adam for their wedding anniversary last year. Well...guess what?! The beer is being released today!! The beer’s name is “Aletruistic Adamus Prime”. The beer style is a Belgian Buckwheat Financier Brown Ale. Adam wanted the beer to be based on his wife’s favorite dessert at @looksbakehouse, the buckwheat financier. The beer is 5.2% Alcohol by Value (ABV). We are so honored and excited to share that Look’s Marketplace will be donating half the proceeds back to Rare by Design! How incredible is that?! So go snag some”Aletruistic Adamus Prime” in honor of Adam and Katie’s wedding anniversary and Rare by Design’s #TheStyleShow! We can’t wait to try it ourselves. #InclusionIsAlwaysIn #CraftBeer #RareByDesign @looksbeerco @looksmarketsf #InclusionIsAlwaysIn #SiouxFallsEvents #RareDisease #Disability #DisabilityAwareness #StyleShow #InclusionMatters #DisabilityAwareness #RareBeauty #Rare #SouthDakotaRare #DisabilityPride #ChronicIllness #NonProfit #NonProfitOrganization #CareAboutRare #RepresentationMatters #FashionShow #Style