These people are living with a rare disease and educating the wider public.
When my son was diagnosed as thalassaemia patient, doctors told me that he will not live for more than 10 years, and there was no… Continue reading If you can help your child you can help others
Read full storyRaymundo and Damián are 8 and 7 years old, both of them suffer a bleeding disorder called glanzmann’s thrombasthenia, its a 1 and a million… Continue reading Glanzmann Thrombasthenia
Read full storyNatalia cuando era una bebé de 8 meses tuvo su primera convulsión, fue una convulsión tan larga que terminó en un paro cardio-respiratorio los médicos… Continue reading una cura, una ilusión
Read full storyFinnley may look like a typical 8 year old boy, but his genetic mutation is far from typical. Ever since he was born he was… Continue reading Invisible disease
Read full storyI was diagnosed on my 29th birthday, this was a very late diagnosis and why things have become so severe for me. Unfortunately I suffered… Continue reading “You’re too complicated”
Read full storyLoclan is 5 years old and has been transfusion dependent since birth. He was diagnosed with Pyruvate Kinase Deficiency around 4 months of age. His… Continue reading Loclan the fighter
Read full storyI am a fourth year medical student being treated for aplastic anemia. In 2021 I was diagnosed with bone marrow failure after bone marrow biopsy,… Continue reading Aplastic anemia fighter
Read full storyLijep pozdrav. Moje ime je Senaida, a moj sin se zove Dželal, koji boluje od rijetkog oboljenja, cistične fibroze. Živimo u Srebreniku mali gradić u… Continue reading Nevidljiva
Read full storyNotre fille, Enora, est née avec 3 semaines d’avance suite à un déclenchement en raison d’une inflexion de croissance pendant les dernières semaines de grossesse.… Continue reading CASK-related disorders : (January 2023)
Read full storyMe and my husband Giovanni live in Turin, Italy, with our nine years old son Pedro. After a long diagnostic journey at the age of… Continue reading Why I became an advocate
Read full storyYou might have seen the meme, or remember from science class, that “the mitochondria is the powerhouse of the cell!” It converts food into energy,… Continue reading Being Your Own Powerhouse
Read full story5 god lutanja i trazenja odgovora za stanje mog sina,konacno imamo odgovor.Radjena je genetika i otkriveno da on ima dva sindtoma Teacher collins sindrom3 i… Continue reading Moj sin boluje od 2 retke bolesti
Read full storySoy Fernanda Quiroz Reina Nacional de la Inclusión de Ecuador tengo 35 años y tengo una hermosa familia. Soy madre de Camila de 17 años… Continue reading Ser grandes es cuestión de actitud.
Read full storyIsla was my first child, a 8lb healthy baby. However, I noticed her bent big toes and it was noted she had congenital bunions. We… Continue reading The Answer is in the toes!
Read full storyAs someone who lives with a number of rare conditions, including Nail Patella Syndrome, Idiopathic Intracranial Hypertension, Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia,… Continue reading My journey with Nail Patella Syndrome and rare neurological conditions
Read full storyWe fly like butterflies – Let’s sting like bees Rare Disease Day is just around the corner! As February 28 approaches, I have more and… Continue reading My rare world
Read full storyGrowing up I had allergies and near frequent stomach aches. It all came to a head when I was 19 years old and ended up… Continue reading Diagnosed as an adult
Read full storyJe m’appelle Julien, j’ai 34 ans et je suis atteint d’une Myopathie de Duchenne. Il s’agit d’une maladie génétique rare qui provoque une dégénérescence musculaire… Continue reading Je transcende mon handicap
Read full storyЗдравейте казвам се Камелия, медицинска сестра съм от България.Синът ми се казва Максим и страда от рядко генетично заболяване Синдром на Гителман.Още от много малък… Continue reading Синдром на Гителман
Read full storySoy Víctor Papá de Alonso de 12 años y les contaré su historia, ha sido un proceso muy difícil para nuestro grupo familiar, primero saber… Continue reading Historia de Una Familia Menkes
Read full storySaid y Theo son mis gemelitos bellos que hasta sus 18 meses de vida tuvieron un desarrollo normal hasta que empezaron a presentar problemas para… Continue reading Juntos por Said y Theo
Read full storyMy name is Becky, I live in the UK, am married and my wonderful husband Carl and I have three children, Isabella (age four) Joshua… Continue reading Rare Role Model
Read full storyCristopher es un pequeño niño de 10 años, diagnosticado con FENILCETONURIA(PKU) Desde los 5 días de nacido A través del tamiz neonatal nos dijeron la… Continue reading FENILCETONURIA (PKU)
Read full storyMy body does not make Cortisol. I was very sick for a couple years, but regular medical tests unable to detect. Severe joint pain, abdominal… Continue reading Oh, but you don’t look sick!
Read full storyIdiopathic Intracranial Hypertension is a rare neurological condition that mimics a brain tumor but there is no tumor. There’s no known cause and no cure,… Continue reading My IIH story!
Read full storyFui diagnosticada al nacer ya que tenia una fractura en mi fémur, mis papas tuvieron que investigar mucho porque era poco o nada lo que… Continue reading “Pies, ¿para qué los quiero si tengo alas para volar?” Frida Kahlo
Read full storyHi, My name is Joyce and I was born with a rare disease called Shwachman Diamond Syndrome. I was born on May 2, 2008 in… Continue reading Joyce’s story Shwachman diamond syndrome
Read full storyThe arrival of our son, Maurya on July 11, 2012 was a watershed moment for us When our son, Maurya was one year old, we… Continue reading Unraveling Hereditary Spastic Paraplegia
Read full storyHi my name is Austin, I am 19 and live with DYRK1A Syndrome. It wasn’t until 6 years ago that my family was provided with… Continue reading DYRK1A and Me
Read full storyWe found our infant son, Landon, barely breathing in the middle of the night. Rushing to the ER, clinging to every breath, I had a… Continue reading “Just enjoy him while he’s here”: An Ohio family proves unstoppable in the fight to save their son from a rare genetic disease
Read full storyMe llamo Mateo, tengo casi 3 añitos y tengo una mutación genética ultrararra en Nek8. Esta enfermedad afecta órganos esenciales para la vida y he… Continue reading Una vida para Mateo
Read full storyWhen Delilah was born we were told that she broke her collar bone during birth, she was taken away for her physical checkup and we… Continue reading Lilahs story
Read full storyOur little boy was originally diagnosed with Global Developmental Delay as he wasn’t reaching his milestones. In 2019 he was then diagnosed with Homocystinuria which… Continue reading Our special little Pea
Read full storyMy name is Julian and I am 15 years old. I live in South Australia and I have a rare autoimmune/auto inflammatory disease called, TRAPS… Continue reading One in a million
Read full storyEmilie and Mathilde were born at 31 weeks with Twin Anemia Polycythemia Sequence (TAPS), which affects just 3-5% of twins sharing a placenta. TAPS is… Continue reading Red and White Twins
Read full storyOur daughter, Paislee, was born with an extremely rare neurological disorder called Spinocerebellar Ataxia Type 29 all because her genetic coding misread one letter. We… Continue reading Paislee’s journey with SCA29
Read full storyConocí a mi padre biológico a los treinta años, supe que yo podía ser portadora de hemofilia. Al paso de los años mi chico deportista… Continue reading La importancia de conocer los antecedentes hereditarios.
Read full storyFynnley was born at 35 weeks, weighing a little over 4lbs and had a series of birth defects that were unknown. She was born with… Continue reading Fynnley’s Fight
Read full storyЗдравейте казвам се Ивон на 4 години от България моето заболяване е изключително рядко генетично Вродена еритропоетична проферия болест на Гюнтер открито на 1,5 година… Continue reading Вродена Еритропоетична проферия
Read full storyDavid was diagnosed at 2 years old with Labrune syndrome. It’s an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and… Continue reading Labrune Syndrome (LCC)
Read full storySoc el Gerard, tinc 11 anys i una mutació al gen Mfn2 que em provoca un tipus de CMT. De gran vull ser científic per… Continue reading En Gerard de Barcelona
Read full storySofia is 1 year and 9 months old. She has congenital defect. Her left leg is shorter than right leg by 9,5 cm. And until… Continue reading Short leg but hopeful eyes
Read full storyMarc, our son, is a wonderful 11-year-old enjoying life in the green, residential town of Sant Cugat (Barcelona, Spain). Not only does he fill our… Continue reading MARC, A HAPPY FACE DESPITE HIS RPS6KA3 GENE MUTATION
Read full storyRodrigo era un niño sano, alegro, inquieto y le gustaba bailar y cantar, alrededor de los 5 años comenzó con convulsiones y de apoco a… Continue reading Mí Principe Guerrero
Read full storyMy name is Leif, I was born in November 1976, and I was diagnosed with GNE Myopathy in 2015. I was married once, and we… Continue reading Leif’s Story – GNEM Patient in Switzerland
Read full storyI recall the day, almost six years ago, when I observed the liveliness of joy in one who paraded around in a pink frilly skirt,… Continue reading This Little Light of Mine
Read full storyДоброго дня . Чудова , життєрадісна Ліза , із міста Марії, із Маріуполя . Нам пощастило вибратися із окупації , та втекти від війни .… Continue reading Ліза із Маріуполя .
Read full storyJe suis Valérie, 55 ans, 2 maladies génétiques rares : Leucémie et Ehlers-Danlos hypermobile. Errance de diagnostics, mauvais diagnostics, patient chronophage, qu’il est long le… Continue reading Smile to life
Read full storyThis is Killian , our brave and best boy! He is 13 years old. At 6 months old he was diagnosed with PTEN Mutation after… Continue reading Killian, Our ”Little warrior”
Read full storyI was born with a rare chromosome disorder called chromosome 18q deletion. It occurs when the long arm (q) of chromosome 18 is missing. Some… Continue reading My Story with Chromosome 18q Deletion
Read full storyMeet my daughter Amara from Trinidad & Tobago. She is 7 years old and is the only registered or documented person with 11q Terminal Deletion… Continue reading 1inAmillion+
Read full storyმინდა მოგიყვეთ მოკლედ ჩემი შვილის შესახებ რომელიც არი 9 წლის,მას ორი წლის წინ დაეწყო სიპტომები რაც გამოხატებოდა მისი სიარულის მანერის შეცვლაში..კვლევებმა დაადგინა რომ ნინის აქვს… Continue reading ცხოვრება CMT-თან ერთად
Read full storyEmmett was diagnosed with Trichothiodystrophy at ten months old. Emmett is now three years old. He is one of the more saver cases. Each kid… Continue reading Emmett Journey with Trichothiodystrophy
Read full storyIsabella was detected a month after she was born with msud, thanks to the screening she can have a “normal” life and it is necessary… Continue reading Life with msud
Read full storyLa Aina nació en octubre del 2018 2 meses después fue ingresada por una bronquiolitis en el Hospital de Mataro, allí conocimos a una doctora… Continue reading IRF2BPL
Read full storyJe suis un jeune garçon de 12 ans très dynamique qui embrasse la vie à 200 %. Pourtant, depuis ma naissance, mon combat contre la… Continue reading Ma force, ma bataille!
Read full storyThere are days when I no longer want anything other than this horrible nightmare to end. If the Many Worlds interpretation of Parallel Universes were… Continue reading Parallel Universe
Read full storyEra l’estate 2018 quando ho iniziato a stare male e dopo varie visite mediche specialistiche arrivo ad ottobre in ospedale “Policlinico Federico II” di Napoli… Continue reading Io e la miastenia gravis
Read full storyWithin the second of my family doctor walking into the room, “oh, you have lichen sclerosus,” slipped out of her mouth. Let’s rewind. I started… Continue reading My Decade Long Journey to a Diagnosis
Read full storyIch wurde 2014 Diagnostiziert Nach Jahre langer immer wiederkehrenden Infekten Lungenentzündungen Seitdem werde ich durch Plasmaspenden mit Immunglobulinen behandelt.
Read full storyEm 2019 recebi o diagnóstico de Púrpura Trombocitopenica Idiopatica/Imune (PTI). Já retirei o baço na esperança de normalizar às plaquetas e o efeito foi totalmente… Continue reading Remédio para vida
Read full storyHace unos veranos, una noche me despertó un terrible dolor en la mejilla izquierda, el cual achaqué inmediatamente a un problema odontológico. Era horroroso. En… Continue reading Neuralgia del Trigémino
Read full storyTeddy has Peters plus Syndrome – Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the… Continue reading Teddy’s Little Story
Read full storyElla is six years old and a warrior princess! Diagnosed with Pachygyria at the age of 4, she battles cerebral palsy, Autism, seizure disorder, developmental… Continue reading Ella, Our Pachy Princess
Read full storyHola mi nombre es Liam nacido el 4 de noviembre del 2018, hoy tengo 4 años de edad, nací con una Rara enfermedad llamada Cantú… Continue reading Luchando por un mejor respiro y un Corazón sano
Read full storyMi bebé damian era un niño tan alegre , valiente y fuerte , cuando nació paso por muchas complicaciones y el demostró su lucha desde… Continue reading Un pequeño siendo un gran guerrero
Read full storyMeu nome é Guilherme e tenho 11 anos. Sou um menino muito feliz, que adora cantar, conversar, brincar, tomar banho de mar… Eu nasci com… Continue reading Síndrome do amor
Read full storyAfter recovering from a 10 year battle with Anorexia and depression, I finally found freedom. But I was then beginning to suffer again, but the… Continue reading Mental illness covered up my EDS
Read full storyMr and mrs Jerry Thompson had to make one of their greatest life decisions 3 years ago. It was then that their daughter Johanna was… Continue reading Fighting rett syndrome positively
Read full storyMy name is Natalia and I’m from Bulgaria. After 14 years journey in Pulmonary hypertension world, I can said that this is an unplanned long… Continue reading One unplanned long rare journey full of surprises, which turns you into a wise giraffe
Read full storyI started the PTENUKI patient group to provide greater support and improve the lives of patients with PTEN/PHTS after my daughter was diagnosed at the… Continue reading Setting up a patient group
Read full storyMariana is a beautiful three years old girl and last year she was diagnosed with Baraitser-Winter syndrome (BRWS) and retinitis pigmentosa, both identified by molecular… Continue reading The Gibraltar Flower Champion
Read full storyOur son Austin was born with a large head and big eyes, low muscle tone and was silent. He was beautiful. Everybody would comment about… Continue reading My silent Angel
Read full storyOur daughter, Amelia, was diagnosed with CLN1 Batten Disease (neuronal ceroid lipofuscinosis) at 2 years old. Before learning of her diagnosis, we had never heard… Continue reading Batten Disease Warrior
Read full storyWe have been fighting for 6 years with Angelita and 2 with Vladimir against the Krabbe, to achieve a diagnosis and not to mention improve… Continue reading Krabbe Journey
Read full storyI am a researcher with a long-term interest in the PTEN gene. I did my PhD studying the biology of PTEN from 2008-2012 and since… Continue reading PTEN researcher and trustee for patient charity
Read full storyNarodil som sa pred 5 rokmi a odvtedy robím radosť mojim rodičom a môjmu bratovi Matúškovi. Už keď som bol v maminkinom brušku, to so… Continue reading Daruj kúsok zdravia
Read full storyOwen was diagnosed at age three after spending the first three years of his life in and out of doctors offices and hospitals. He finally… Continue reading Strong and Brave
Read full storyWhen i was 26 weeks pregnant I had an emergency scan due to reduced movements. The scan showed that my son was growing smaller then… Continue reading Teddy’s DYRK1A syndrome story
Read full storyI’m Julia from Germany, Baden-Württemberg, Ulm, 34years. I have mitochondrial disease with MTATP6 mutation with diabetes,hypothyroidism, adrenal insufficiency, immunodeficiency, anemia, asthma, lactate acidosis, cataracts, double… Continue reading Julia mit Mitochondriopathie MTATP6 Mutation
Read full storyTenho filhos com MUCOPOLISSACARIDOSES TIPO VI, e há pouco tempo fui diagnosticada com Leiomiossarcoma de parede lisa do útero, neste momento com metástase nos pulmões.… Continue reading Deparando-me com raridades
Read full storyHola. Soy Bersy. Una joven que llevaba una vida independiente y trabajadora como tu. Me levantaba a diario para obtener mi sustento y llevar una… Continue reading Ayudame a seguir Sonriendo
Read full storyIn 2016 my son Damian was born with gastroschisis. We were told it would be simple and he’d spend max 6 weeks in the hospital.… Continue reading Rare and Aware
Read full storyAfter months of pain, with no answer in sight my doctor decided to do one more test before she was out of options. And that… Continue reading One more test
Read full storySono affetto da CMT X, vivo il rapporto con la malattia non come una condanna ma come parte di me. Non è stato facile metabolizzarla… Continue reading Riattacco petali alle margherite
Read full storyI had experienced symptoms such as fatigue, anaemia, weight loss, joint pain, and a butterfly-shaped rash on my face. After seeing several doctors and undergoing… Continue reading Lupus made me strong…
Read full storyHi my name is Meghan, I live in Staten Island, New York, and work as a dermatological Medical Assistant and I have a rare disease… Continue reading It’s Not in my Head, It’s Still in my Stomach
Read full storyWhen I was born my mother gazed down at me and was softly stroking my fingers. Right in front of her eyes she watched a… Continue reading Your Blister Sister
Read full storySono Valentina, ho 23 anni, appena arrivata in Italia a 7 anni mi hanno diagnosticato a Udine hypoglycemia una malattia rara che pochissimi conoscono. La… Continue reading Sentirsi diversi senza esserlo
Read full storyHello, this is my little girl Layan, or as we call her LuluWe are from Saudi Arabia in the Middle East,She is like the rest… Continue reading Meet my little smiling fighter layan
Read full storyOur journey to diagnosis looks different than most, our journey to our boy also looks different. In the fall of 2019, my husband and I,… Continue reading “For however long” became our forever
Read full storyBor in delecija 8p23.1 Borova diagnoza je v svetu tako redka, da tudi sindrom nima drugega imena kot motnja kromosoma 8p, največkrat gre za delecijo/duplikacijo/inverzijo… Continue reading Bor in delecija 8p23.1
Read full storyI was 27 weeks pregnant when my MFM confirmed our son would be born with congenital diaphragmatic hernia. He had right sided CDH, with liver… Continue reading Living with CDH
Read full storyMy name is Kerry, I was born on the 22/10/1997. I was born in a set of fraternal twins. Around the age of one my… Continue reading My SMA Adventure
Read full storyBonjour à tous ! J’habite en Belgique et j’ai eu mon diagnostic de SPS en 2018, à l’âge de 40 ans. J’ai eu 9 chutes… Continue reading Warrior
Read full storyI was diagnosed with NMO in April 2020. My primary Dr thought I was having a shingles reaction without the lesions. After an MRI and… Continue reading My journey
Read full storyI have been a diagnosed rare disease patient for more than 30 years now. My name is Amy and I am a rare disease patient… Continue reading More than 30+ years as a Rare Disease Patient
Read full storyHere’s to the long story that leads me to the start. On the 22nd I became an above-knee amputee and for the last 96 days… Continue reading A Short Story Long
Read full storyHi! My name is Victoria and I’m from Connecticut. In 2020 I was diagnosed with three rare diseases. Gastroparesis, MALS, and SMAS. Since I was… Continue reading The mysterious stomach pain
Read full storyAfter experiencing issues with my peripheral vision and sensitivity to light I had multiple tests and scans leading to my diagnosis of Acute Zonal Occult… Continue reading We tend to take our eyes for granted until they go wrong.
Read full storyI was diagnosed with Neuromyelitis Optica 03/12/2019. It’s been one crazy journey. I remember going to the GP, hardly being able to walk & trying… Continue reading We thought it was just MS?
Read full storyI was between early 20’s when, I was told that they had found a match something that was rather unspexpected , because the DD study… Continue reading Journey to where I am Today
Read full storyHi, my name is Jayme and I am 26 years old. When I was born in 1996, my Mom along with Doctors knew there was… Continue reading Not Too Rare To Care
Read full storyI was diagnosed with CMTC when I was 5 months old. At 29 years old, I have lived with markings down the right side of… Continue reading Katie’s Story
Read full storyNos llamamos Óscar y Sara y somos los papás de Mateo, un niño de solamente 2 añitos que tiene una mutación genética ultrararra en Nek8.… Continue reading Una Vida para Mateo 🌈💗
Read full storyEmily was diagnosed with Nephrotic Syndrome and global developmental delay followed by genetic testing she was then diagnosed with TRIM8 related disorder. She has presented… Continue reading Emily our Strong warrior
Read full storyHi, my name is Amanda and I live in England, UK. I’m 34 years old and 14 years ago, I first went into Anaphylaxis at… Continue reading Amanda’s Angioedema Story
Read full storySoy Mauel, nací de 36 semanas de gestación. A los dos meses de vida mis papás se dieron cuenta que algo no andaba bien, era… Continue reading Siempre puedo volar
Read full storySou Mariana (37 anos), de Conceição do Rio Verde – MG – Brasil. Nasci sem complicações no parto, mas foi observado a falta de pêlos… Continue reading “A vida é uma dádiva, viva e agradeça por estar vivo!”
Read full storyAfter years and years wondering if there was a genetic condition that was behind why Kathryn was unique – right before her 16th birthday we… Continue reading Kathryn gets Answers
Read full storyDurante el embarazo no sospechamos que Irene vendría con una enfermedad rara hasta el día de su nacimiento, los médicos nos comentaron que sus rasgos… Continue reading Irene 9p22
Read full storyHello 👋 My name is Omaima but you can call me om , I’m from Kuwait city 🥰🇰🇼 Have arteriovenous malformation (avm ) left leg… Continue reading My Story My Journey (قصتي رحلتي)
Read full storyUBA5 IS A LIFE-THREATENING PROGRESSIVE NEUROLOGICAL DISORDER The Ubiquitin-like modifier-activity enzyme 5 (UBA5) gene contains instructions for the UBA5 protein, which is critical for cellular… Continue reading Life with UBA5
Read full storySalve a tutti sono la mamma di una dolce bambina 🥰 effetta da CRMO💜🦴malattia rara , Alicia ha iniziato la sua battaglia a l età… Continue reading Alicia guerriera CRMO💜🦴
Read full storyHello I’m Kimberly better known as strong_selflove I’m the host of the selflove sister podcast In this podcast i talk about Autoimmune diseases ,chronic illness, and most… Continue reading Self love and autoimmune diseases
Read full storyWhen my son was two years old, I noticed that his left eye was not aligned with his right. I initially thought it was an… Continue reading Adventures with Darian
Read full storyHai presente quando alla fine di un film giallo svelano il nome dell’assassino e tutti gli indizi sparsi nelle due ore precedenti trovano finalmente una… Continue reading Non sono quello che mi è successo. Sono quello che ho scelto di essere. Carl Gustav Jung
Read full story*Spanish below* My daughter, Helena, is a lovely Mexican 7-year-old girl that has had to face extraordinary challenges and uncertainty until was finally diagnosed, in… Continue reading Helena is one of a kind, and 1 in a million!
Read full storyI’m 39 years old and was diagnosed with EDS only when I was 35. It’s not that I didn’t have symptoms… I had many but… Continue reading We know our own body better than anyone!
Read full storyNuestra hija fue diagnosticada con leucoencefalopatia de calcificaciones y quistes, después de 5 años de diagnósticos erróneos; una mutación en el gen SNORD 118 es… Continue reading No somos raros, somos especiales
Read full storyHi, I’m Amanda and I live in NW England, UK. 14 years ago, I suffered a spontaneous episode of Anaphylaxis whilst in work. Since then,… Continue reading Amanda’s story
Read full storyMy name is Zein 13 yrs diagnosed Mitochondrial Cythoathy affecting complex V of respiratory chain enzymes along with epilepsy and development delay, I have delay… Continue reading A life in a day
Read full storyI was diagnosed with this rare auto immune desease “Anti Synthatase Syndrome” in September 2020. Since then i am on steroids and immunosuppressive medicines. It… Continue reading Always a Warrior, Never a Survivor!!
Read full storyTout a commencé un 22 janvier 2020 quand ma maman a remarqué que j’avais les pieds enflés alors que cela faisais plus de 72h que… Continue reading Fort malgré la maladie
Read full storyStevie: My Girl. Coming up with the words to describe our perfect, one in a million+ daughter is impossible. I have written out these words… Continue reading That’s So Stevie
Read full storyShe is Gabriela, she has 11 months old. Last june she was diagnosed Huppke Brendel syndrome, only 6 cases in the world. They have decided… Continue reading A little princess called Gabriela
Read full storyOlívia, minha primeira filha, chegou em 2014, gestação tranquila, com um “susto” no primeiro trimestre os médicos disseram, uma alteração no ultrassom nos levou a… Continue reading Meus filhos – Síndrome de Menke-Hennekam
Read full storyBrantley is a 6 year old boy with KGB syndrome and cerebral palsy (CP) and many other diagnoses. I was scared at first when I… Continue reading My Six Year Old with KBG Syndrome and CP
Read full storyHi, my name is Amanda and I’m 63 years old. When I was 17 years of age I was diagnosed with Dermatitis Herpetiformis, then when… Continue reading My Stiff Person Syndrome story
Read full storyHello, this is my little girl Lyan, or as we call her Lulu. We are from Saudi Arabia. She is like the rest of the… Continue reading Meet my princess lolo
Read full storyNoyan was born on 21-11-2021 with very very rare genetic disease called SPEG related centronuclear myopathy type 5. He had chylothoraces when he was born… Continue reading The little brave fighter’s journey
Read full storyPaisley has a rare form of a rare disease called Blue Rubber Bleb Nevus Syndrome. She had just turned 4 when she was diagnosed, after… Continue reading Bravest 3 year old
Read full storyHello world. My name is Charlotte and I am 18 months old, living in Sydney, Australia. 3 months ago, I was diagnosed with a very… Continue reading Charlotte vs World
Read full storyMy little daughter is fighting for her health.but she is not alone there are us mother, father and brother sister. every day she throw up… Continue reading She is my little fighter
Read full storyLouis, 3 ans et 4 mois 🗓 18 mai 2022 🖋 Apres ses œdèmes aux paupières (4 eme épisode en 6 mois et rdv allergologue… Continue reading Jusqu’ici il était en bonne santé …
Read full storyConstant, sharp, stabbing pain in the left flank which got worse after a meal, when moving around and changing positions. I started to look for… Continue reading Fighting for my only life against Vascular Compression Syndromes
Read full storyHey my name is Katie, I was diagnosed with Retinoblastoma at the age of 2 and a half which was discovered when my Mum took… Continue reading My Journey With The Glow
Read full storyI am a victim of a rare medical condition (Cerebrospinal fluid Leak CSF RHINOHEA) which resulted from a motor vehicle accident I was involved, in… Continue reading CSF JOURNEY
Read full storyI had to Google it, ARHGEF9, the name of my son’s genetic mutation. I had been suspicious of something going on since Ivan was 7… Continue reading Ivan’s Story
Read full storyBor’s diagnosis is so rare in the world that the syndrome has no other name than chromosome 8p disorder, most often it is a deletion/duplication/inversion… Continue reading Bor and 8p deletion (8p23.1 del)
Read full storyMeu nome é Roberta, tenho 40 anos, sou mãe, casada, natural de Coimbra MG e formada em Educação Física. Durante 20 anos fui bailarina e… Continue reading Dançar é a vida minha Gratidão
Read full storyOur daughter Olivia is almost 3 years old. She is a beautiful mix of Thai, Dutch, and Portuguese, and we are currently living in Portugal.… Continue reading GSD 1B WARRIOR
Read full storyI was 27 weeks pregnant with a complicated pregnancy where my body fought against my baby and that meant my baby requiring intrauterine transfusions. After… Continue reading Christmas miracle
Read full storyNasco nel 1988 a Pescara, sono una bambina apparentemente sana, ho i malanni che la maggior parte dei bambini hanno. Passo la mia infanzia in… Continue reading CHE LA FORZA SIA CON ME
Read full storyHola ! Yo soy Sebastián,de Monterrey,N.L. MÉXICO ,tengo 3años 4 meses,soy un niño muy feliz y amoroso, nací con una alteración genética en el cromosoma… Continue reading El amor no cuenta cromosomas
Read full storyHello! My name is Gabriel with a rare disease. I have Tyrosinemia Type I (Metabolic problem). My family is from San Juan, Puerto Rico and… Continue reading The Miracle of life
Read full storyA diagnosis…It’s the first time I have decided to tell my story, why you ask? Because during my non stop journey during these long years… Continue reading When your body screams listen!
Read full storyHello, I’m Kim and I live in Belgium. In 1998 I was diagnosed with neurofibromatosis. The doctors never told my parents how important follow-up is.… Continue reading mother and son
Read full storyHi!! I’m Bella, a 16yo from CT, with a plethora of chronic illnesses. Growing up, I was always the kid out sick, but we never… Continue reading How Medical Gaslighting Nearly Took My Life
Read full storyRúbia tem 5 anos e tem síndrome de Ogden que descobrimos aos 4 anos de vida. Ainda na barriga foi diagnosticado um Cisto de ovário… Continue reading Nossa Raridade
Read full storyMy name is Aleix and I am 8 years old. At the age of 3 I got diagnosed with the MECP2 Duplication Syndrome. A very… Continue reading One Life, One Journey. Learning to live with Uncertainty
Read full storyUn cúmulo de despropósitos. Los médicos siguen diciendo que sólo tienen una sospecha y que no hay derecho a un diagnóstico, y no lo puedo… Continue reading Mi búsqueda y lucha por un diagnóstico
Read full storyIt took us 14 years to get a correct diagnosis. I first had signs that something troublesome was going on in 2004. I was passed… Continue reading Keep Searching for Answers
Read full storyHet syndroom van Camurati Engelmann is een zeldzame, genetische ziekte die gekenmerkt wordt door hyperostose van de lange beenderen, schedel, wervelkolom en het bekken en… Continue reading Mijn leven als eendje
Read full storyMy story starts in 2009, when I was just a child, barely 9 years old. I was being transported to another town to have my… Continue reading 99% success rate – my life as that 1%, the other side of the statistics
Read full storyFueron muchas las ocasiones en que varios médicos especialistas no pudieron ver. Y sin saberlo fueron condicionando la vida de un niño, mi hijo Mariano,… Continue reading El desconocimiento médico es aún muy grande
Read full storyأنا سراج فتاة من تونس مريضة ديسفارنيوباتي مرض خلل النسيج أعيش لوحدي واعمل في التعليم منصب اداري اعتمد على نفسي في كل شي رغم الألم… Continue reading متحدية المرض النادر
Read full storyL’annonce est tombée le 2 Décembre 2020. Après une année de covid compliquée voilà que cela tombe sur toi ma si jolie Apolline. Des yeux… Continue reading Apolline le hamster
Read full storyHello. My name is Marwa and I am 27 years old from Lebanon. I was diagnosed with Stargardt disease at the age of 16. First… Continue reading Star eyes
Read full storyI was born in Portugal with a rare genetic disorder called Crigler Najjar Syndrome (CNS) type 1, a serious condition affecting the liver. CNS is… Continue reading A happy story with Crigler Najjar type 1
Read full storySalut tout le monde! Je suis Rose originaire de la Cote d’ivoire. J’ai été diagnostiquée de la myopathie GNE en 2017. C’est une maladie neuromusculaire… Continue reading Plus d’humanité et empathie pour les patients en Cote d’ivoire
Read full storyOn May 17th ( Also the day of NEC awareness!) 1999 I was born a healthy term+6 baby however I developed NEC soon after birth.… Continue reading Looking through both sides of the incubator window
Read full storyHi everyone, my name is Dwayne; I am 54 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I… Continue reading I am Smashing Pompe!
Read full storyI was born on May 25th,1985. Despite a sacral dimple, a diagnosis of “failure to thrive” and a surgery at 2 to reconnect my ureters… Continue reading My Rare Disorder Life
Read full storyHello, my name is Joshua. For 13 years of my life I thought I was a normal kid. Playing games, going to after school clubs,… Continue reading The shock of my life
Read full storyHola! Soy Luca de Argentina con 23 meses. Naci el 16 de septiembre de 2020 al dia de vida entre a cuidados intensivos por una… Continue reading Luchando contra la luz
Read full storyIntro I live with a rare disease, PIK3CA Related Overgrowth Spectrum. Technically it’s just overgrowth, but for me it’s had a knock on effect on… Continue reading Places We Take Ourselves
Read full storyI’m turning 21 this year. I was born in the eighth month, with a series of complications, where the doctor told my mother, “Mother, your… Continue reading what does nutcracker syndrome know, what is impossible?
Read full storyRui was born on 20th of February 2022 with severe jaundice, enlarged spleen and enlarged liver. We spent 20 days on the special care baby… Continue reading Rui’s CDA1 Story
Read full storyAvery has Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect… Continue reading Avery’s Fight With NKH
Read full storyMy name is Dan, retired U.S. Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 10 year hereditary colon cancer WARRIOR w/a permanent ileostomy.… Continue reading Hereditary colon cancer live-case presentation
Read full storyMi chiamo Simone e sono nato il 22 febbraio 2014 a in provincia di Torino. La mia nascita è stata una grande gioia per mamma… Continue reading IL PICCOLO GRANDE GUERRIERO SIMONE
Read full storyWhen my oldest daughter was born, I was young, she was prefect. A new beautiful baby girl, no one could have guessed that 6 weeks… Continue reading My daughter
Read full storyHello, I am Youssra. I suffer from a disease, I think it’s rare because I haven’t found the cure to it yet. My story started… Continue reading Finding hope in chronic illness
Read full storyAlicia has a passion for helping others. She is a manager for a charity who helps individuals and children experiencing homelessness. In her free time,… Continue reading She believed she could, so she did.
Read full storyWe have been trying for a baby for six years. First naturally, then with help. We had to interrupt the artificial insemination process twice. The… Continue reading Even cystic fibrosis and diabetes didn’t stop my dream of becoming a mother, after 6 years we have a healthy son
Read full storyWe found out during pregnancy. Jergus dad had a classmate with this diagnosis so he knew it and was not a big tragedy. But parents’… Continue reading Our Jerguš is a creative and fun boy! Why should we convince him he’s sick?
Read full storyIn 2008 when I was leaving one job and going to another I’ll send started having problems with tunnel vision and by the time I… Continue reading The way people see me!
Read full storyHello! I’m Elodie and i’m 16 years old. When I was born, I was diagnosed with Duane Syndrome, means I have a nerf in my… Continue reading Are you looking at me?!
Read full storyWhat was supposed to be a routine cleaning at the dentist led to being diagnosed with two chronic diseases. Between checking for cavities and reminding… Continue reading “It’s all in your head.”
Read full storyWhy it took 28 years to officially be diagnosed with cacna1a rare gene mutation aka episodic ataxia-2 ? “Finally someone listened” I have a rare… Continue reading My Life with episodic ataxia
Read full storyOn June 3, 2003, the neurologist said, “You have Myasthenia Gravis”. I was 18 years old and had just finished my freshman year at Purdue… Continue reading SeAndrea’s Myasthenia Gravis Story
Read full storyTo begin, I am truly honored to be considered a “Hero” of Rare Disease and share my story with the world. While the diseases and… Continue reading Pituitary Cancer, Addison’s Disease, and everything in between
Read full storyConner is 7, he went undiagnosed until he was 5 years old, when the pandemic hit it took us 4 months to get our genetic… Continue reading Living with Angelman Syndrome-UPD
Read full storyOur daughter, Bianca was diagnosed with HSAN IV (hereditary sensory autonomic neuropathy) also known as CIPA (congenital insensitivity to pain with anhidrosis) at age 8… Continue reading A Life Without Pain
Read full storyIn august 2020 I started developing bruises all over my body, that would not heal for weeks, got blood tests done and was diagnosed with… Continue reading My aplastic anemia story
Read full storyIch bin Wiebke, 35 Jahre alt, und lebe seit Oktober 2020 mit einer sehr seltenen neurologischen Autoimmunerkrankung namens Paranodopathie. Innerhalb eines halben Jahres wurde ich… Continue reading Mein neuer Reisebegleiter: Paranodopathie
Read full storyOur story began in feb 2016 when our baby boy was diagnosed with GA1 , we had never heard of GA1 despite our other 5… Continue reading Two rare babies
Read full storyHi my name is Logan. I am 11 years old turning 12 on April 24. I was diagnosed with Loeys-Dietz syndrome type two in October… Continue reading Just a boy with a rare disease
Read full storyI turn 28 this year. I thought my 20’s were supposed to be the most exciting and fun of my whole life, but I have… Continue reading Brighter days are coming
Read full storyMy name is Jay i and I am 30 year old individual diagnosed at birth with an invisible disability known as Congenital Central Hypoventilation Syndrome… Continue reading Overcoming Challenges One Breath at a Time
Read full storyOur daughter Rylae-Ann was born with a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase deficiency or AADC Deficiency for short. This disease affects… Continue reading Hope for AADC Deficiency Community
Read full storyMy name is Toni and I am the founder of The Big Sunflower Project which raises awareness of the rare neuromuscular conditions called centronuclear and… Continue reading The Big Sunflower Project
Read full storyI had worked with computers my entire adult life, long hours in front of the computer take their toll on your body and your eyes… Continue reading Fighting for my eyes, fighting to be seen
Read full storyLillian is a beautiful, smart and loving 2 year old. When she was 14 months old she was unresponsive on the morning of September 26,2020.… Continue reading Tango2 Warrior
Read full storyMy husband and I met for dinner at a local restaurant, quickly ordering and trying to scarf some food down before Logan woke up and… Continue reading Logan’s story
Read full storyDobrý deň or should I say hello 🙂 I am Adam but to my followers, I am known as the AI Warrior. I am 12… Continue reading Adam, The AI Warrior
Read full storyMy name is Maddie, and I’m from Pittsburgh, Pennsylvania in the US. I have Hereditary Angioedema, which is a rare and potentially life-threatening genetic condition… Continue reading Living Beyond HAE
Read full storyWhen I was 11, I was diagnosed with Brown syndrome. Brown Syndrome is the common name for 4th nerve palsy, a rare disease impacting your… Continue reading Self Advocacy: A young timid girl to an outspoken woman
Read full storyNora Jane Almany was born on Monday, July 4, 2016. I had a normal pregnancy and normal delivery. When Nora arrived that evening, she did… Continue reading NJA > NKH
Read full storyI am Clive, an active, fit, and to the naked eye a healthy British Army veteran. In 2019, after several years of deteriorating function and… Continue reading Making the Most of Now
Read full storyMeet Tommy. See this beautiful smile and happy boy. He loves school, his riding therapy, going to local little league, watchimg music on his ioad.… Continue reading My hero
Read full storyHello my name is Michelle, I am a 45 year old rare disease warrior … My story, well where do I begin… I recall the… Continue reading She Rejoices in Hope
Read full storyMy name is Zhana. I’m a mother of one-year-old Dachi. He has a rare genetic mutation of SCN2A Gene. From the third day of his… Continue reading My Hero
Read full storyJimena tiene 5 años, era una recién nacida sana, al quinto día de nacida tuvo varias convulsiones, y desde ese momento inició un largo trayecto… Continue reading Jimena Mañán Mena
Read full storyOn April 18, 2013, my husband and I drove to the hospital for a scheduled C-section ready to welcome our 3rd son to our family.… Continue reading Alex is totally Jawsome!
Read full storyFui Mamá a mis 24 años, mi hija desde bebé presentó problemas de salud, Asís 18 años ella empezó a mejorar y yo a mis… Continue reading Madre e hija viviendo con una Enfermedad Rara
Read full storyThis year we will be dressing in rainbow stripes for #RDD2022. Would you like to know why? In 2020 our family was growing just as… Continue reading Finding Our Moon’s Mission: to cure SPG56
Read full storyLiving with rare genetic disorder EEF1A2 ~ Pika Bindi 🌞🌞🌞 Pika’ s representative card to EEF1A2 group My daughter Pika Bindi is 14 years old… Continue reading Pika Bindi ~ rare genetic disorder called EEF1A2
Read full storyI’m Evangelia. I live in Athens, Greece and teach English as a foreign language. I love cats and I definitely have a mild addiction to… Continue reading My journey with CVID
Read full storyI was a half marathon runner, in good shape. I hade no signs that something could be wrong in my body. It was a regular… Continue reading From a athlete to a cancerpatient
Read full storyMi nombre es Manuel tengo 12 años y soy de Argentina.Hace casi 3 años me diagnosticaron Paraparesia espastica hereditaria del tipo 5 spg5a enfermedad neurologica… Continue reading Luchar diariamente
Read full storyNora est née le 3 mars 2016. Elle est atteinte d’une maladie neurodégénérative rare PKAN d’origine génétique. Rien ne nous fait penser que Nora n’est… Continue reading Nora notre phénomène
Read full storyIn 2018 I was diagnosed with a rare, inherited retinal disease called Retinitis Pigmentosa. RP is an umbrella term for a host of eye conditions… Continue reading A slow Eclipse
Read full storyMy journey began at 13 when swelling from an extraction never went down so had to get a biopsy done on my jaw. I was… Continue reading The Strength is Within Us
Read full storyIn 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An… Continue reading Sia Strong
Read full storyMy name is Natache Iamaya. I’m from Rio de Janeiro. I have Friedreich’s ataxia, a rare genetic disorder that damages the nervous system and impairs… Continue reading My life with Friedreich’s Ataxia
Read full storyMi nombre es Manuel y tengo 13 años. Soy de Argentina y padezco paraparesia espastica hereditaria del tipo 5. Me gusta jugar al futbol y… Continue reading P.E.H.
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