Misconception There is so much confusion and not enough education about rare disease. I wish in future and thank to the @ehlers.danlos society and many more we will have an easier access to medical treatment and investigation. Also hopefully people get to understand that for genetic disorder not two person will have similar symptoms. For me after 15 years of medical errance all this is new and I’m learning every day about the links also with neuro divergent minds etc. Much love to all zebras 🦓🧡🧬❤️ Today is Bouddha Purnima so my music is linked 🧘🏻♂️ 🧡 #lighton #eds #myedschallenge #myhsdchallenge #geneticdisorder #misconception #education
Day 23 of raising awareness for @ehlers.danlos - Misconceptions…. For me personally one of the biggest misconceptions of hEDs is that you HAVE to experience joint dislocations to be diagnosed with this condition. This is false. Whilst dislocations are common in those with hyper mobile Ehlers Danlos Syndrome, it does not have to be a key feature of your symptoms but general joint instability does. Personally I think I only experience sub-laxations which is where the joint can partially dislocate. It happens with my left shoulder and the joints between my pelvis. Just because my joints don’t fully dislocate, doesn’t mean that my joints are not super fragile, I can assure you they are, especially my knees! - My mains symptoms are joint pain, instability, fatigue and cracking/popping joints … but it’s so important to remember that symptoms can present so differently person to person. Just like with any illness or disability … no two people experience it the same way. - I think my love for fitness and weight training ever since I was young had helped me to maintain some kind of joint strength which could have lessened the risk of having full on joint dislocations too. It’s only until recently where I’ve been too sick to consistently work out that my joints have become quite weak again. - I adore this photo … and you know why…because it was PAINFUL AF so I am super proud for getting this shot. I remember my beautiful Ariel hoop teacher shouting “you’ve got this, hold it, well done!!!” when trying to hold this position for the photoshoot 😭😂 - Lots of love to my fellow zebras out there ✌🏼💕 - #MyEDSChallenge #MyHSDChallenge #ehlersdanlossyndrome #ehlersdanlos #heds #hypermobility #dynamicdisability #disability #disabilityfriendly #chronicillness #chronicillnessawareness #potssyndrome #raisingawareness #geneticdisorder #veds #ceds #hsd #arielhoop
My little pumpkin is sick today. He woke up very sad, we took him to pediatrician and they are not able to diagnose him because of symptoms are too mild. We have been sick on and off since we moved to Geneva, I think it is because of all the adjustments and getting exposed to new bacterias and viruses. Every time he gets sick my trauma starts - if he is gonna leave us, will the sickness get too tough all those thoughts come to my mind. Miss him making whole bunch of loud noise, fighting with his brother and accusing him for everything, making a mess everywhere 😍😂. Whenever Dan is healthy we are a loud family. 💜💜 • • • #cdls #corneliadelange #corneliadelangesyndrome #cdlsstrong #cdlsawareness #cdlsfamily #raredisease #raregene #geneticdisorder #sick
This happened a couple of weeks ago and I’ve reported this situation because honestly, I’m so tired that patient rights are disregarded like this. It matters to us that we are treated like human beings, be it 1st, 10th or 100th doctors visit. I am all for educating students and letting them learn but it should always be respectful. I don’t want more stress on top of all the anxiety I’m already feeling before and during the procedure, and sometimes I don’t feel like having anyone else in the room besides my doctor - I should be given a choice to refuse. This situation was unacceptable, and I hope they will listen and implement their guidelines more strictly. After all, young doctors need to learn proper bedside manner as well. This was a very poor example of that. *I have to point out that this happened in my own country, not in the U.S. There are so many good things health systems around the world are doing, I wish we could learn from each other and implement what works instead of practicing things just because “that’s how we’ve always done it.” #MarfanAwareness #MarfanSyndrome #MarfanSyndromeAwareness #GeneticDisorder #rarecondition #patientrights
When children come into clinic, the sessions are focused on their physical development, but it's also about providing advice and support to their closest care givers - the parents. I adore seeing the progress the kids make during their treatment, but hearing positive feedback like this from parents really is a close second ☺️ Thank you to all those who have provided a review 🌟 every one has put a huge smile on my face. I'm so proud of you and the progress your little ones are making. Thank you for being such superheroes 💖 #ribblevalleychildrensphysiotherapy #RVCP #ribblevalleyphysio #physiotherapy #childrensphysio #paediatricphysiotherapist #5star #babymilestones #babydevelopment #physioclinic #ribblevalley #clitheroe #normaldevelopment #sportinginjuries #childathlete #sportsphysio #cerebralpalsy #SMA #geneticdisorder
Thank you to all of the people that supported our raffle through donations! The table was a huge hit! Ragnarok Technologies Dreaming Pine Press @author_emreinhart Cerrena Baird & Tara Reed @cerrrenexplainsitall @tara_leighann Wellness Massage LLC @wellness_massagellc Good Ranchers @goodranchers Rawr Organics @rawrorganics #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
Your story should be heard. If you are an MPS1 family, go to the link in our bio to share your story. Your story matters and can make a difference and we want to help share it! #curehurler2025 #fightmps1 #raiseawareness #prayersneeded #raredisease #rarediseasewarrior #fightforacure #findacure #mps1 #hurlersyndrome #withawarenesscomesacure #disabilityawareness #disability #prayer #prayforacure #disabilitysupport #disabilitycommunity #disorder #disability #disordersupport #disordercommunity #rarediseasedisorder #geneticdisorder #genetics #research #disabilitylife #weneedacure #livingwithdisability #mps #hurler
Ezra says cast your free daily vote &/or donate for double votes today… OR ELSE! Lmao Voting is so crucial right now, if I don’t get back into first I won’t advance to the next stage. This would be life changing for us and would open an opportunity for me to share in a women’s world magazine about kids like Ezra, inclusion, and supporting families of people with disabilities. PLEASE VOTE! Link in bio! #chdawareness #hlhswarrior #heartwarrior #cdls #geneticdisorder #womensworldmagazine #advocacy #disability #supermom2024
SAVE THE DATE! Join us for our much anticipated Velo Blu 2024 - on Friday, September 13! Link in bio . . #BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #veloblu #charityride
"I’m a psychotherapist who has often worked with “quirky” kids who are creative, artistically talented and exceptionally clever. They are not “typical” and often can be awkward in school and in social situations. Whether they are on the autistic spectrum, or not, Amy Bodkin’s passionate, well written book will be of great help to the parents of the young people I see in my practice. Actually, I think it should be read by all parents, educators and mental health professionals because of her breadth of knowledge, insight and practical advice. We need more Amy Bodkins to compassionately and astutely translate for adults the challenges and triumphs of special needs kids." - Dr. @janice.i.cohn, author of The Christmas Menorahs Get your copy here! https://amzn.to/4auf5kK #NewBookAlert #NewBooks2024 #NewBookRelease #TempleGrandin #Autistic #Autism #SpecialNeeds #SpecialNeedsKidsArePeopleToo #SpecialNeedsHomeschooling #Homeschooling #Parenting #SpecialNeedsParenting #ADHD #ChildhoodCancer #Adoption #Dyslexia #Dyscalculia #Dysgraphia #ChronicHealthCondition #EhlersDanlos #Dysautonomia #Disability #Trauma #MastCellActivation #SensoryProcessingDisorder #DownSyndrome #GeneticDisorder #Neurodiverse #Neurodiversity
My MECP2 Duplication Syndrome withholds me from a lot of things, but it does not withhold me from smiling. Living in the moment and creating memories for times when smiling might not be possible, and facing future challenges, might be key to becoming resilient. 💙💪 🇦🇩 La meva síndrome de duplicació MECP2 em priva de moltes coses, però no em priva de somriure. Viure el moment i crear records per a moments en què potser no sigui possible somriure, i afrontar els futurs reptes, pot ser clau per esdevenir resilient. 💙💪 . . . #raredisease #geneticdisorder #careaboutrare #mecp2duplicationsyndrome #mds #awareness #curemds #supportresearch #medicalresearch #patientadvocacy #resilience #livinginthemoment
Quotes of Hope💚✨ Today we have Amy, mom to Chloe, 19 yrs old. “Without research, there is no progress. Without progress, there is no hope. I choose hope for my child’s future.”
Thank You to all of the vendors that showed up to support our event and participate in the walk. We appreciate you! Zul’s Lemonade Big Yak’s BBQ @bigyaksbbq Kona Ice Martinsburg @konaice Dreamy B Bakery Missy Mae’s @missymaesfarm Almost Heaven Sauce Co. Moon Fairy Candle Co. @moon_fairy_candleco Susie the Clown #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
INTERACTIVE POST : COMMENT HOW YOU COPE W THE WORST OF THE WORST : IT MAY BE SOMETHING OTHERS HAVENT THOUGHT; WE COULD HELP ONE ANOTHER. 🥄💪🧡🫂 How do you get through the toughest days? RESHARING A POST BY @liv.onpurpose and my ensuing comments thread . Livinpurpose leans on her faith ( and yes please comment) and I on my learned experience living with mental illness to cope with the physical. What do you do? #spooniewarrior #spoonie #spoonies #spooniesupport #spoonielife #spooniecommunity #chronicillness #chronicillnesscommunity #chronicpain #paindisorder #mecfslife #mecfsawareness #mecfssucks #postviral #postviralmecfs #sleepdisorders #idiopathichypersomniaawarness #idiopathichypersomnialife #idiopathichypersomnia #fibromyalgia #centralsensitizationsyndrome #autoimmunedisease #rhuematiodarthritis #raredisease #geneticdisorder #stigmatizedillnesses #copingskills #flare #emotionalintelligence In no particular order : if your tagged in here we've spoken atleast a little and I think you have something to offer others with your experience enduring and coping with hard days./ periods No need to write a novel like I did because I can't be concise if I tried lmao... but please feel free to comment let's use social media for good 🧡 @robert_a_athertonjr @spoonies_matter @ktrina_96 @petllam @earth.bender360 @sincerelysuzie8082 @the.bookish.momlife @thesleepy_ot @thatonegothchic22 @evlsins @lovechloeisaac @thebehcetsbae @myfightforair @sincerelysuzie8082 @spooniesurvivingpem @gameofcrohnsnchronicillness @m_runner5150 @thesleepy_ot @inspirelife86 @advocatewellnesstx @dr.aprilgivens @narcolepsynavigatorspodcast @iamhollybeck @mishailija @marcia_silva.feed.your.soul @wandabelisle @fibrowithdaisy @fourmorespoons @amberhorrox @_itscrazywonderful @nadiaroseremission @stacie.no.die @bettiehough21 @jess_surviving_ra @real_calebleland @roseythebosslady_ @mslaurasart @art_spirit_lyme @drakered @thahsinaks
Ça va plutôt bien chez nous! Raian est en forme, on a fait un contrôle chez l’ostéopathe récemment mis à part quelques petites tensions, tout va bien #hamdoulilah. Il y a peu nous avons une réunion en vue de la #scolarisation de Raian pour août 2025. C’était un moment très joli de partage autour de notre enfant avec les thérapeutes, pédiatre, doyenne de l’école et l’inspectrice cantonale. Un nouveau réseau sera fait en novembre prochain mais pour l’instant nous avons appris que c’est soit l’école spécialisée soit l’ #intégration en école standard avec une prise en charge de seulement 50% par @etat_de_vaud. En résumé une loi pour l’intégration est bien votée pour une application théorique… au niveau pratique?! L’argent est mis dans les école spécialisée, on ouvre plus d’école spécialisée afin de ne pas perturber l’école normal… notre décision a déjà été prise, nous attendons simplement le moment venu pour en parler et expliquer notre position dans notre choix. On pense toujours à ce qui est mieux pour Raian et même si on a tous les avis du monde, notre décision est connue depuis un moment déjà 🙃 . @sportho_swiss nous a fourni le Walker dans lequel se trouve Raian. #pura #purasyndrome #puraperfect #purasyndromeawareness #purasyndromefoundation #geneticdisorder #gapbaby #gapboy #love #fight #independence #physio #physiotherapy #ergoterapi #entreinement #musculacao #musculation #force #perceverance #joie #amour #raian #swiss #cantondevaud #handicapsuisse
Pregnancy Loss ✨ يساعدك في تأكيد السبب وراء فقدان الحمل ، حيث ان 50-60% من جميع حالات فقدان الحمل بسبب وجود خلل كروموسومي يقدم لكِ إجابات وتوجيهات هامة لتخطيط الحمل القادم بشكل أكثر استعداداً.✨ Pregnancy Loss It helps confirm the reason behind pregnancy loss: Where 50-60% of all cases of pregnancy loss are due to chromosomal abnormalities It provides you with important answers and guidance to better plan for your next pregnancy.✨ ___ للاستفسار والاستشارات لا تتردد بالتواصل معنا على الأرقام التالية 📱: 00962 79 031 391 4 00962 6 593 966 6 #gene #genetic #genetics #genetictesting #geneticdisorder #biotechnology #biotechnology #gym #fitness #wellness #healthy #healthcare #healthyeating #healthandwellness #healthcoach #عمان #الاردن
Grande Successo per il Centro Igea di Grottaglie! Grazie al 👨⚕️ Dott. Vincenzo Di Donna, Specialista in Chirurgia Vascolare, che dal 26 al 30 maggio 2024 parteciperà alla Ottava Conferenza Internazionale sulle Malattie Genetiche di Dubai. #chirurgia #chirurgiavascolare #dubai #grottaglie #centromedico #poliambulatorio #geneticdisorder #malattiegenetiche
today we collected cool stuff for a goodie bag for the kids of a @seltenekrankheiten_kmsk event that my mum organized. it was an honor to help this amazing foundation for all the kids with a rare genetic desease. they help these kids to get therapies and aids which insurance won't cover to help them having a better life. KMSK does also organize family events, so they can forget their daily troubles for a few hours and do cool stuff. if you like to help those families too, visit their page. . Heute haben wir coole Sachen abgeholt für einen Event, welche meine Mama für @seltenekrankheiten organisiert hat. Es war eine Ehre diesem Förderverein zu helfen für diese Kinder mit seltenen Krankheiten. Sie helfen den betroffenen Familien mit Therapien und Hilfsmitteln, welche die Versicherungen nicht übernehmen, damit sie ein besseres Leben führen können. KMSK organisiert ebenso coole Events für die betroffenen Familien, damit sie für ein paar Stunden ihrem Alltag entfliehen können. Wenn Ihr diese Familien auch unterstützen möchtet, seht Euch ihre Seite an. @seltenekrankheiten_kmsk @seltenekrankheiten #kmsk #microcephaly #mikrozephalie #hypotonia #hypotonia #ataxia #ataxie #geneticdisorder #gendefekt #globallydelayed #entwicklungsverzögerung #brainatrophia #hirnatrophie #disabled #Behinderung
Give $10, get a FREE pair of period underwear donated by @Tabayer and @theperiodcompany! With every tax-deductible donation you make to the Turner Syndrome Foundation, for a limited time, you will be sent a pair of these sustainable undergarments. ❤️ Donate now at the link in bio. . . . #TurnerSyndromeFoundation #TurnerSyndrome #TurnerSyndromeStrong #TSStrong #TurnerSyndromePride #TSAwareness #TurnerSyndromeAwareness #TurnerSyndromeSupport #TurnerSyndromeCommunity #GeneticDisorder #WomensHealth #RareDisease #RareIsBeautiful
Day - 22 Hobbies and passion All of you know my passion and hobbie number one is dancing and music ❤️ but whenever I need to rest, get inspiration or just enjoy I’m going to the water and the sun. Nothing beats nature. I love to be in the sun and swimming 💙 It brings me so much energy and lightness in my condition. My dream was always learning to surf and I got that chance as well. Today for the 22nd day of the challenge I was blessed to be by the sea ☀️ 🌊 💛 @ehlers.danlos #eds #zebrastrong #hobbi #sea #water #beach #myedschallenge #myhsdchallenge #geneticdisorder
Thank you to our community partners for their support! We couldn’t have done this without their support! Shepherd University @shepherdu Corner Connection WV @corner_connectionwv Chick-Fil-A Martinsburg @cfamartinsburg Jefferson Rentals @jefferson_rentals WV Birth to Three Papa Johns Martinsburg @papajohns Martin’s Charles Town @martingsmarkets Weis Markets Ranson @weismarkets #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
Knowing what thalassemia actually is helps us to spread awareness. #spreadkindness #spreadtheword #geneticdisorder #thalessemia
Nothing quite like the bond these two have! #curehurler2025 #fightmps1 #raiseawareness #prayersneeded #raredisease #rarediseasewarrior #fightforacure #findacure #mps1 #hurlersyndrome #withawarenesscomesacure #disabilityawareness #disability #prayer #prayforacure #disabilitysupport #disabilitycommunity #disorder #disability #disordersupport #disordercommunity #rarediseasedisorder #geneticdisorder #genetics #research #disabilitylife #weneedacure #livingwithdisability #mps #hurler
PREGNARİSK TESTLERİ Çocuk sahibi olmak isteyen, plan ve hazırlık yapan çiftlerin sağlıklı çocuk sahibi olmak için gebelik öncesi danışmanlık almaları ve genetik tarama testi yaptırmalarında fayda vardır. Türkiye’deki neredeyse her 3 evlilikten 1’i akraba evliliğidir. Anne ve babadan kan alınarak yapılacak tarama testleri; gebelik esnasında olası hastalıklar ve doğum sonrası oluşabilecek sorunlara karşı önlem almayı sağlar. Hamilelik öncesi genetik tarama testlerini en doğru, en güvenilir ve en hızlı şekilde Alfagen Genetik Hastalıklar Değerlendirme Merkezi’nde yaptırabilirsiniz. #genetik #genetic #van #alfagen #genetiklaboratuvarı #genetikhastalık #geneticdisorder #prenataltest #hamileliköncesi #taramatestleri #gebelik #hamile #anne #bebek #sağlık #önlem #pregnancy #motherhood #childhood #healthy
Today is World NF2 Awareness Day! We celebrate World NF2 Awareness Day on May 22nd each year in reference to chromosome 22, which is the location of the gene change for those with neurofibromatosis type 2-related schwannomatosis (referred to as NF2 or NF2-SWN). NF2-related schwannomatosis (NF2) is a disorder characterized by the growth of noncancerous tumors throughout the nervous system. The most common tumors associated with NF2 are vestibular schwannomas (also called acoustic neuromas—these are benign tumors that develop on the balance and hearing nerves within the inner ear) and meningiomas (benign tumors that develop on the surface/membrane of the brain and spine). However, tumors can also develop in other parts of the brain or spinal cord, with symptoms varying according to their location. NF2 can cause deafness/hearing loss, severe balance problems, facial nerve paralysis, tinnitus (ringing of the ears), spinal cord compression, swallowing difficulties, eye function complications/cataracts, and more. Symptoms differ significantly between patients and no two cases of NF2 are the same. Read more about NF here... https://www.nfnetwork.org Want to learn more about NF? To stay current with information and events from the NF Network, go to https://www.nfnetwork.org/stay-informed-signup #nf #nf2 #schwannomatosis #neurofibromatosis #nfawareness #connectingnf #nfnetwork #endnf #geneticdisorder #chromosome22
"I see each one of us as a gift to the world. And if I honestly see each one of us as a gift to the world, then I must also respect the individuality of myself and others enough to not insist on sameness." Get your copy here! https://amzn.to/4auf5kK #NewBookAlert #NewBooks2024 #NewBookRelease #TempleGrandin #Autistic #Autism #SpecialNeeds #SpecialNeedsKidsArePeopleToo #SpecialNeedsHomeschooling #Homeschooling #Parenting #SpecialNeedsParenting #ADHD #ChildhoodCancer #Adoption #Dyslexia #Dyscalculia #Dysgraphia #ChronicHealthCondition #EhlersDanlos #Dysautonomia #Disability #Trauma #MastCellActivation #SensoryProcessingDisorder #DownSyndrome #GeneticDisorder #Neurodiverse #Neurodiversity
Who can relate?💗 - 📸 Via Who can relate?💗 - Tag someone who needs to see this💙 - ✔𝓣𝓸 𝓸𝓻𝓭𝓮𝓻 𝓸𝓻 𝓼𝓮𝓮 𝓶𝓸𝓻𝓮 𝓹𝓻𝓸𝓭𝓾𝓬𝓽𝓼,👉𝓒𝓱𝓮𝓬𝓴 𝓽𝓱𝓮 𝓛𝓘𝓝𝓚 𝓘𝓝 𝓞𝓤𝓡 𝓑𝓘𝓞👆 - - - - #epilepsyadvocate #seizures #epilepsymom #cureepilepsy #epilepsia #infantilespasms #epilepsysucks #epilepsyfoundation #epilepsylife #geneticdisorder #epilepsyfighter #epilepsy #epilepsysupport #walktoendepilepsy #seizurefreedom #seizuresupport #seizuredisorders #epilepsystrength #athletesvsepilepsy #epilepsysurvivor #epilepsynow #epilepsymonitoring #epilepsyfoundationofamerica #epilepsywalk #temporallobeepilepsy #epilepticseizure
As with all events, a solid group of volunteers helps push events to the finish line, and we can’t thank the following group of volunteers enough for their support before, during and after the TSC walk for a cure. Jefferson High School - Air Force Junio ROTC @_jhsrotch Diana Ivone Photography @dianaivonephotography Blue Line Entertainment - DJ Five-O Nurses: Kemberly Acuna and Lisa Miller Shepherdstown Volunteer Fire Department @shepherdstown_volunteers Country Roads Therapy Dogs @countryroadk9 Miss Shenandoah @missshenandoahwv MTM Doula & Massage @mtmanddoula Sunny Days Speech Therapy @jacfavale #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
do you agree 😏 #disability #breweddifferentlypodcast #disabilitypodcast #rareparenting #geneticdisorder #autism #dynamicdisability #nosuchthingasnormal #celebratedifferences
Understanding Cystic Fibrosis Cystic Fibrosis (CF) is a genetic disorder causing thick, sticky mucus build up in the lungs and digestive system, leading to frequent lung infections and digestive issues. Early diagnosis and proactive management, including airway clearance and enzyme supplements, are crucial for a better quality of life. Ongoing research aims to find a cure. #CysticFibrosis #GeneticDisorder #HealthAwareness
GEVANGEN - De wekker staat op 10 minuten. Voor me staat een rijtje met niet zo leuke gedachten over mezelf, negatieve overtuigingen. Een opdracht van mijn coach. Niet dat ik er nou heel vrolijk van word, zo vlak voor mijn volgende coachsessie begint. Maar here we go. Ik voel me gevangen, staat er. Ik zit vast. Gevangen in het moederschap, hoor ik haar terloops zeggen. Auw. Die doet pijn. Tranen rollen over mijn wangen. Dit doet zeer. Dit is helemáál niet wat ik wil voelen. Wat ik mag voelen. En toch klopt het. Het is precies wat ik voel. Dat kleine beetje energie wat ik heb. Dat volledig wordt opgeslokt door de kinderen. Één in het bijzonder. Wordt weggezogen door de situatie. De continue alertheid en nabijheid die ons meisje met haar autisme van me vraagt. Het zuigt me leeg. Het voelt als een gouden kooi, vertel ik haar. Met gouden tralies dus, dat wel. Ergens zit er tóch wat schoonheid in. En ik kan er prima doorheen kijken. De lucht voelen. Maar het houdt me in bedwang. Opgesloten. Als een iglo die me gevangen houdt. Een vicieuze cirkel van opladen, bijtanken om het nét vol te kunnen houden. Maar ook weer leeg te zijn na een “normale” dag met kids en huishouden. En daarna is het op en ben ik blij als ik naar bed mag voor mijn powernap. S avonds lig ik uitgeteld op de bank. Nog even Netflixen en dan op tijd naar bed. Te moe voor al teveel sociaals. Het voelt niet eerlijk. En toch voel ik het. Voel ik de tranen die niet stoppen. Terwijl zij doorpraat. Doorvraagt. En me vraagt om het anders te verwoorden. “Het voelt alsof ik gevangen zit in het moederschap. En; “ik merk dat het voelt alsof ik gevangen zit in het moederschap.” Meteen geeft het lucht, geeft het licht. Een gedachte die in principe ook gewoon waar is. Want dit moederschap vraagt zóveel meer dan ik ooit had gedacht. Ooit had gehoopt. Het zet me op zijn kop en keert me binnenstebuiten. Drie keer rond. En ik heb er zo hard voor gewerkt. Aan mijn herstel. Aan mezelf. Aan ons gezin. En merkte pas hoe groot de impact eigenlijk is op ons dagelijks leven toen ik even “UIT” mocht staan. Na een fijne vakantie van een paar dagen in de zon. Het is eruit. En ik kan… (Lees verder hieronder 👇)
For Awareness Day 2024 we would like to celebrate the diversity of our Unique family by putting together a montage of photos and videos from all our members in the UK and around the world. Thank you to all the families who have shared photos and videos so far! Please send us photos and videos at [email protected]. #charity #rarechromo #geneticdisorder #unique"
Haemophilia is a genetic disorder where blood doesn't clot properly due to the lack of clotting factors. This can lead to excessive bleeding from even minor injuries. Regular treatment and care are essential for managing this condition. Stay informed and spread awareness! 💉✨ #vyydhyaa #hemophilia #hemophiliac #hemophiliaa #hemophilialife #hemophiliastrong #hemophiliaawareness #hemophiliaawarenessmonth #blood #blooddisease #health #healthawareness #healthknowledge #genetic #genetics #geneticdisorder #geneticdisorderawareness #geneticdisorderindia #geneticdisease #geneticdiseases #geneticdiseasecarrier #stayinformed #vyydhyaahealthcare #vyydhyaahealthcarecompany
Nasa GFOXX Head Office po tayo ngayon para mag process ng 1 set of 6-month Therapy or 7+2 PROMO 🥰 For further details about our Promo, you can call me on my number 09051685841. 📞 🔴 www.elixirplacentapremium.com #stemcell #stemcelltherapy #stemcelltreatment #antiaging #antiinflammatory #AntiinflammatoryTherapy #DNATherapy #DNA #genetics #geneticdisorder #diabetes #cancer #placenta #placentaencapsulation #arthritis #leukemia #chronickidneydisease #chronicdisease #multiplesclerosis #stroke #strokerecovery #braintumor #hope #faith #hearthealth #lifestyle #antioxidants #elixirplacenta #elixirplacentadistributor #MarylJasmin
We are so incredibly proud of our little 🔥 cracker. She tore up that runway like it was going out of style. Thank you to all our family, friends and loved ones for their support. Noa is so grateful for your generosity and words of encouragement. Today she felt a part of a community she didn’t even know she needed. To connect with others like her- took our breath away. We are so indebted to @childrensphila dept of Endocrinology for their lifesaving work. Thank you @mykidskorner for dressing our girl! #daisydays #endocrine #geneticdisorder
One of the most challenging parts of being chronically ill is slowly losing your independence and sense of autonomy. As my chronic illnesses progressed, I got more and more diagnoses, and eventually became fully disabled almost 4.5 years ago, my life had changed a lot. I no longer work or am financially independent. I have to rely on my husband to work full time and do most of the housework and errands that I used to be able to help more with. I also haven’t been driving and have relied on my husband, parents, and ride shares to get around. I absolutely feel like I have less autonomy over my life and it’s not a comfortable feeling. Taking cautious steps back towards regaining that independence can be scary when you still feel extremely sick… But also (tentaively) very exciting to start regaining the ability to interact more with the world. I’m taking a driving lesson today. It’ll be the first time I’ve been behind the wheel in over 4 years, and I really thought I’d feel a lot better when this day came. But as it’s become clear that things may never ““calm down” medically as we originally hoped, I’m working to take steps to build a happy, full life regardless of how I feel. So I’m nervous, in pain, fatigued, feeling kind of brain foggy, but also excited that I’m finally taking this step I’ve been considering for a while. Things may not look how I imagined them but I’m proud of myself for giving this a shot anyways. I really hope this lesson goes well and that I feel comfortable starting to actually drive myself around soon! It seems small but it would really add to my life to be able to drive myself to meet a friend, see my family in LA, and go grab my prescriptions so my husband doesn’t have to go to CVS every week. Wish me luck! Happy Tuesday to everyone 🫶🏻 Do you feel like you’ve lost independence due to your chronic illness? Leave a 🤍 or comment! #chronicpain #chronicillness #autoimmune #disability #raredisease #geneticdisorder #spoonie #spoonielife #spooniecommunity #spooniesupport #medicallife #medicallifestyle #joyandpain #chronicillnessawareness #chronicfatigue #chronicpainandfatigue #chronicillnesslife
We are over halfway through NF Awareness Month. Let's not just keep the awareness to the month of May. Stay iNFormed all year long! To stay current with information and events from the NF Network, go to https://www.nfnetwork.org/stay-informed-signup #nf #nf1 #nf2 #schwannomatosis #neurofibromatosis #nfawareness #connectingnf #nfnetwork #endnf #geneticdisorder #chromosome17 #chromosome22
We are just days away from coming home! 🌼 Elaine's weight still isn't up, but she's tolerating all of her feeds through the tube. After she has two days of weight gain in a row, we will be able to go home with a plan. We aren't sure when we can offer her solid foods again, but we are offering her bottles by mouth, and she's just not interested in them anymore (this was starting to trend before we came into the hospital). I hope that soon her tummy is ready for some solids because she has 4 new teeth to try out! Elaine is very much back to her sassy self. Now we just need her to grow 💕 #TARsyndrome #TARS #limbdifference #geneticdisorder #wonderfullymade #thrombocytopenia #luckyfinproject #medicallyfragile #norovirus #sepsis #medicalmama #hospitallife #childrenshospital #parenting #momsofinstagram #medicallyfragilechild
Beckett’s Beehive worked hard to round up some regional supporters to donate towards finding a cure for Tuberous Sclerosis Complex (TSC). Thank you, Charles Town Moose Lodge #948, for crusading with us by stepping forward for a cure! Thank you, @kendamil.usa, @rawrorganics, and William’s Youth Services for coming in as a defender for a cure! @tscalliance #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
Throwback to last summer when Lincoln found a favorite hobby!! #curehurler2025 #fightmps1 #raiseawareness #prayersneeded #raredisease #rarediseasewarrior #fightforacure #findacure #mps1 #hurlersyndrome #withawarenesscomesacure #disabilityawareness #disability #prayer #prayforacure #disabilitysupport #disabilitycommunity #disorder #disability #disordersupport #disordercommunity #rarediseasedisorder #geneticdisorder #genetics #research #disabilitylife #weneedacure #livingwithdisability #mps #hurler
ATTENTION!! We will be having a book discussion with the author (that's me!) in my Special Needs Membership group beginning May 28th!! My membership group includes free yearly testing for the whole family, a virtual co-op, and ongoing support from a school psychologist (that is also me)! Still not sure? Why not try it out for one month FREE? Use the code: 1monthfree https://amybodkin.com/product/special-needs-membership/ #NewBookAlert #NewBooks2024 #NewBookRelease #Author #Autistic #Autism #SpecialNeeds #SpecialNeedsKidsArePeopleToo #SpecialNeedsHomeschooling #Homeschooling #Parenting #SpecialNeedsParenting #ADHD #ChildhoodCancer #Adoption #Dyslexia #Dyscalculia #Dysgraphia #ChronicHealthCondition #EhlersDanlos #Dysautonomia #Disability #Trauma #MastCellActivation #SensoryProcessingDisorder #DownSyndrome #GeneticDisorder #Neurodiverse #Neurodiversity
The single most unimaginable, nightmare, that no mom EVER wants to experience... happened to me in January of 2024. My first born son, Ezra, passed away shortly after a rare, traumatic medical event at 39 weeks that almost took my own life as well 💔 The odds of this happening to us were extremely slim. As I've contemplated the fragility of life and begun my endless healing journey, I would like to pursue a dream of mine and need the help of my community. In Ezra's honor, I am starting this passion project called, One of a Kind Kid, which will share the stories of children living with unique diagnoses or rare conditions. The purpose is to highlight how amazingly special they are in this world! If you live in the DMV area and your family (or someone you know) might be interested in participating, please see the link in my bio for more details. #raredisease #rarecondition #geneticdisorder #medicallycomplex #oneofakind #infantloss #lossmom #limbdifference #differentisbeautiful #raregeneticdisorder #pediatrictherapy #dmvkids #inmemory #passionproject #annearundelcounty #birthtrauma #lifeafterloss
May Colon-related Disease ang Auntie ng ating Elixir Advocate from Taiwan 🇹🇼 In just 7 days of taking Elixir Placenta Premium, may visible result na kay Auntie. Amazing product talaga! For Orders and Reservation📋📩 📞Call/ Text: 0905-168-5841 📩Direct Message: https://m.me/mjgmonserrat 📌Visit Facebook Page: https://www.facebook.com/premiumelxr 📌Visit Facebook Group: https://www.facebook.com/groups/elixirplacentastemcell 📌Visit Official Website: https://elixirplacentapremium.com/ #stemcell #stemcelltherapy #stemcelltreatment #antiaging #antiinflammatory #AntiinflammatoryTherapy #DNATherapy #DNA #genetics #geneticdisorder #diabetes #cancer #placenta #placentaencapsulation #arthritis #leukemia #chronickidneydisease #chronicdisease #multiplesclerosis #stroke #strokerecovery #hope #faith #hearthealth #lifestyle #antioxidants #elixirplacenta #elixirplacentadistributor #MarylJasmin
This was the first time @becketts.beehive organized a charity walk for @tscalliance. We couldn’t have done this without the support from our mama volunteers that put in so much time, effort, and creativity to pull it off! This team of ladies is the bees knees! Thank you @cerrenaexplainsitall for your connections, grit, organization, and event expertise. Your dedication goes unmatched and we are so thankful for you. Thank you @tara_leighann for your social media and marketing tools; your creative touch helped us create a brand for years to come! Thank you @sarah_elli8 for your willingness to hit the streets to spread the word and put up flyers! We appreciate all your efforts and support! #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #tscawarenessmonth #findacure #tscalliance #thankyou #beckettsbeehivesupporter #beehivethanksyou
Cre: @seizetheday.e @ellsjonesy 25/04/2019 - 25/04/2020 • As some of you may know I suffer with a condition called Epilepsy. Epilepsy is a neurological condition that effects the brain and causes me to have random seizures. One year ago today today I had a seizure and this meant that I couldn’t start my dream job I couldn’t drive for a year I couldn’t work and I couldn’t graduate uni with the people I started uni with. One year later — I am looking at starting my dream job in the next month I have my car back and I have graduated university alongside close friends and family. Even though I couldn’t do all these things when I wanted... it shows that if you work hard enough you can still achieve your goals regardless of what life throws at you. Remember good things come to those who wait. / 💜 - 📸 Via Cre: @seizetheday.e @ellsjonesy 25/04/2019 - 25/04/2020 • As some of you may know I suffer with a condition called Epilepsy. Epilepsy is a neurological condition that effects the brain and causes me to have random seizures. One year ago today today I had a seizure and this meant that I couldn’t start my dream job I couldn’t drive for a year I couldn’t work and I couldn’t graduate uni with the people I started uni with. One year later — I am looking at starting my dream job in the next month I have my car back and I have graduated university alongside close friends and family. Even though I couldn’t do all these things when I wanted... it shows that if you work hard enough you can still achieve your goals regardless of what life throws at you. Remember good things come to those who wait. / 💜 - Tag someone who needs to see this💙 - 💥𝐆𝐨 𝐭𝐨 𝐭𝐡𝐞 𝐰𝐞𝐛 𝐩𝐚𝐠𝐞 𝐋𝐢𝐧𝐤 𝐢𝐧 𝐁𝐢𝐨 𝐭𝐨 ▶️𝐏𝐮𝐫𝐜𝐡𝐚𝐬𝐞 𝐢𝐭! - - - - #epilepsyadvocate #seizures #epilepsymom #cureepilepsy #epilepsia #infantilespasms #epilepsysucks #epilepsyfoundation #epilepsylife #geneticdisorder #epilepsyfighter #epilepsy #epilepsysupport #epilepsyawarenes #epilepsyawarenessmatters #epilepsystinks #epilepsystigma #epilessia #epilepsyfacts #infantilespasmsawareness #epilepsyresearch #1in26 #seizurememes #walktoendepilepsy #seizurefreedom #seizuresupport
🧬 Understanding Wilson's Disease: A Rare Genetic Disorder 🧬 Wilson's Disease is an inherited disorder causing copper accumulation in vital organs, risking life-threatening levels. Knowledge empowers prevention and treatment. Consult with Dr. Vikas Patel for guidance. #WilsonDiseaseAwareness #GeneticDisorder #LiverHealth #MedicalScience #DrVikasPatel
Join us in honoring Special Guest of our upcoming Mega Blood Donation Mr. Jitender Kumar Shunty ji, a real hero of kindness and helping others! Mr. Shunty, affectionately known as 'Donor Singh', brings not just his strong dedication to philanthropy but also a distinguished background in public service and politics. From his tenure as a former BJP-Akali Dal MLA to his pivotal roles in various political committees, his commitment to community welfare is unparalleled. But Mr. Shunty's work goes beyond just politics. With over 100 voluntary blood donations, he's not just a donor; he's a lifesaver! His visionary leadership as the founder of Shaheed Bhagat Singh Sewa Dal has transformed countless lives, from providing free ambulance services, organizing blood donation camps, offering free cremation services for the underprivileged to managing disaster relief operations, Mr. Shunty's commitment to humanity knows no bounds. Let's applaud his tireless efforts and remarkable achievements, including prestigious honors like the Godfrey Phillips National Bravery Award and the NACO Award. Mr. Shunty himself will be donating blood at the event, setting an example for all of us. Be a hero too—donate blood and be part of something life-changing! #blooddonation #blood #thalassemia #blooddonor #donor #socialwork #support #helpneedy #savelives #beahero #bloodcamp #redcross #geneticdisorder #hemophilia #aplasticanemia #bloodbank #giftoflife #healthawareness #giveblood #realheroes #explore #bloodmanofdelhi #truebloodpump #goodwork #helpothers #spreadlove #instagood
World Meditation Day Day 21 - EDS & HSD Awarness month 🦓🧬 It’s world meditation day and I must confess that not knowing my diagnostic for years I was practice yoga in a way that really was more harmful than helping me. Meditation is part of the 8 limbs of yoga. Understanding my conjunctive tissues are weak and how my body is functioning helped me listening to me more and changing drastically my way of practice. I’m doing a lot more of pranayama (breathing exercises helping me to connect to my inner self and managing my nervous system), I’m doing the asana part totally in a different way and adapting everyday to my condition. For me meditating is most of the time moving meditation like dancing, doing yoga or listening to music but for sure it helps me develop the mindfulness required in tough times. Wishing you all zebras and non zebras to meditate more and to give yourself the attention and love you deserve 🧡🙏 #meditationday #worldmeditationday #yoga #eds #zebrastrong #ehlerdanlossyndrome #myedschallenge #myhsdchallenge #geneticdisorder @ehlers.danlos
It took from the age of 12 to the age of 29 to find out why I get bad joint pain… It took from the age of 16 to the age of 32 to find out why I get that bad dizzy spells I lose my vision and my hearing…. Plus now I’m finally getting referred to get a genetic blood test to find out if the mutated gene that causes #marfansyndrome has been passed down to me… It may have taken a long time but I’m glad I’m finally getting answers and that I’m making sure I’m getting heard. #raredisease #rhuematoidarthritis #chronicillness #potssyndrome #ibs #geneticdisorder
Day 20 Yesterday we talked about IV medications that you take in the hospital, well today we're going to talk about the hospital experience. Hospitalizations unfortunately become a normal part of #CysticFibrosis care, maintenance, and routine. The average CF patient spends 10-14 days per hospital admission as that's the general course of antibiotics. But because I'm special, my average length of stay is 31 days. On top of that I'm admitted on average every 3 months. YAYYY ME 😒😒 I always tell people if I'm in the hospital it's because I'm sick, and not routine or a "tune up". However, once admitted the treatments I receive follows a pattern and is routine in nature. BUT every hospitalization creates its own life and issues. Example, I'm currently admitted and I'm experiencing fluid retention, that's something new, there's always something new. The hospital is a grind, day-in and day-out, consistent weight loss, focusing on getting better, reminding yourself slow progress is still progress while remembering the world doesn't stop when you get admitted... also PS if anyone wants to know, the hospital is like one of the worst place on the planet to get rest... Either way Day 17 and counting... #HospitalLife #CysticFibrosisAwareness #CysticFibrosisAwarenessMonth #RareDisease # #GeneticDisorder #universityhospital #LivewithPassion #PatientAdovocacy #PatientAdovocate #PassionPurposeProductivity #CFFighter
We want to extend huge thank you to Melanie Queen and her family for organizing a Spring Cleaning Drive with Savers Utah, and to everyone who donated items towards it! They have collected: * 207 Soft Kitchen Bags (2775 lbs), * 65 Home Items (1116 lbs), * and 19 Books (437 lbs), which will add up to over $700 raised for the SHINE Syndrome Foundation! Check out this link if you’re inspired to follow suit and have a drive in your area: https://fundrive.savers.com/?sc_src=Email&Country=US&utm_medium=Referral&ReferralCode=AAX-L6G #RareDisease #DLG4 #SHINESyndrome #curedlg4 #epilepsy #eses #deeswas #RareEpilpesy #RareEpilepsies #genetics #research #autism #Specialneeds #IntellectualDisability #neurology #seizures #GeneticDisorder #DisabilityAwareness #hope #awareness #rare #health #nonprofit
Vandaag is het internationale Williams Beuren syndroom dag 🧬. Een dag om extra aandacht te geven aan dit bijzondere syndroom. Tot vier jaar geleden hadden wij nog nooit van dit syndroom gehoord en nog steeds is het geen bekend syndroom. 1 op de +/- 10.000 kinderen wordt geboren met het syndroom. Het syndroom brengt vaak “(medische) uitdagingen” met zich mee. Daarnaast zijn er 7 kenmerkende eigenschappen (➡️zie laatste afbeelding). Het is goed om te onthouden dat elk kind uniek is. Luciën heeft het Williams syndroom maar is geen “Williams”. Er zit een groot verschil (medisch, IQ, gedragsstoornissen en andere uitdagingen) tussen mensen met het Williams syndroom. Er zijn genoeg kindjes die veel minder medische uitdagingen hebben (waar we ontzettend jaloers op zijn), maar waar Luciën op andere gebieden weer meer geluk heeft. Wij weten een ding zeker, Luciën is het allerleukste, gezelligste en liefste Williams kindje van de hele wereld ♥️! #williamssyndrome #sindromewilliams #williamssyndroom #williamsbeurensyndrom #geneticdisorder #genetischeafwijking #eigenontwikkeling #beperking #zorg #specialneeds #zoeerlijkmogelijkverteld #specialneeds #sunshine
Making up for a missed Friday Fact! TSC Friday Fact! #tsc #tuberousslerosiscomplex #iamtsc #beckettsbeehive #geneticdisorder #genetics #raredisease #tscwarrior #tscalliance #hopeisnotcomplex #stepforwardtocureTSC #knowledgeispower #factfriday #didyouknow #tscstrong #goingblue4TSC #themoreyouknow #tscawarenessmonth #tscglobalawarenessday #findacure
This week on The Energetic Psyche, I have Winston Cortez Ward, Army Veteran, Yoga Teacher, Personal Trainer, and founder of Cortez Training Center. We'll be discussing his personal lived experience with G6PD, and his research on the widely unacknowledged genetic disorder that affects people of color across the world. I hope you'll join our livestream on Facebook, Instagram, or LinkedIn Tuesday, May 21st at 7pm cst. If you miss it, look for the full show which will be uploaded Wednesday on YouTube and Spotify, links on my website www.EnergeticPsyche.com . . . . . . #G6PD #geneticdisorder #awareness #peopleofcolor #Healthcare #energeticpsyche #AdrianCampbellPhD #podcast
Lincoln is our mood all summer long. #curehurler2025 #fightmps1 #raiseawareness #prayersneeded #raredisease #rarediseasewarrior #fightforacure #findacure #mps1 #hurlersyndrome #withawarenesscomesacure #disabilityawareness #disability #prayer #prayforacure #disabilitysupport #disabilitycommunity #disorder #disability #disordersupport #disordercommunity #rarediseasedisorder #geneticdisorder #genetics #research #disabilitylife #weneedacure #livingwithdisability #mps #hurler
“Amy Bodkin’s philosophy of seeing each child as an individual rather than a diagnosis is refreshing and emphasizes the inherent value of every child. The book beautifully balances theory with practical applications, offering guidance on creating supportive environments that celebrate neurodiversity. Her approach of fostering balance and confidence in children is both compassionate and practical, making this a must-read for anyone involved in the education or care of children with special needs.” - Amber O’Neal Johnston, author of A Place to Belong: Celebrating Diversity and Kinship in the Home and Beyond and owner of the @heritagemomblog Get your copy here!! https://amzn.to/3UPAaQB #NewBookAlert #NewBooks2024 #NewBookRelease #TempleGrandin #Autistic #Autism #SpecialNeeds #SpecialNeedsKidsArePeopleToo #SpecialNeedsHomeschooling #Homeschooling #Parenting #SpecialNeedsParenting #ADHD #ChildhoodCancer #Adoption #Dyslexia #Dyscalculia #Dysgraphia #ChronicHealthCondition #EhlersDanlos #Dysautonomia #Disability #Trauma #MastCellActivation #SensoryProcessingDisorder #DownSyndrome #GeneticDisorder #Neurodiverse #Neurodiversity
Read more to learn about shagreen patches and TSC #iamtsc #tscwarrior #tscstrong #tuberousslerosiscomplex #beckettsbeehive #tsc #geneticdisorder #raredisease #goingblue4TSC #hopeisnotcomplex #themoreyouknow #knowledgeispower #tscawarenessmonth #tscglobalawarenessday #findacure #tscalliance
我们总说，如果宝宝诞下就患有基因遗传病，那是天生注定。 逻辑上，确实没错。 但你知道吗？ 现代医学的进步已经可以帮助有单基因遗传疾病的夫妻避免把病根传到下一代。 这里稍微科普一下，基因遗传病可分为： 单基因遗传疾病 多基因遗传疾病 染色体疾病 粒腺体疾病 第三代的IVF技术，让医疗团队可以通过PGT检测，对比父母两人的基因，再筛查出携带不正常基因的胚胎。这样，就能选择把不被影响的胚胎移植到妈妈体内，减缓妈妈在妊娠期间的心理压力。 这些不正常基因一旦被遗传，所衍生出的疾病便会伴随着宝宝一辈子，无法被根治。 要记得，我们有选择的空间，可以选择避免让孩子承受患病的痛苦，避免父母长期的担忧和负担。 #ivf #pgt #geneticdisorder #hereditarydisease