Heroes Archive - Rare Disease Day 2023

Meet our heroes

These people are living with a rare disease and educating the wider public.

Reza’s Story

Cystinosis

Thirteen-year-old Reza lives in Iran with his family, and he is also living with a rare disease called Cystinosis. Within the past century, Cystinosis has… Continue reading Reza’s Story

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Nitzia’s Story

Turner syndrome

As a child, Nitzia attended medical appointments for nine years across four different hospitals before she was finally diagnosed with Turner syndrome.

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Jelena’s Story

Cystic Fibrosis

Jelena finds it difficult to breathe as her lungs do not function properly. Unlike someone who has a more common condition, such as asthma, Jelena… Continue reading Jelena’s Story

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Frequent visits to doctors and hospitals form many of Shambhvai’s earliest memories. To her frustration, she kept being treated for individual symptoms as opposed to… Continue reading Shambhavi’s Story

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Zixuan’s Story

Mucopolysaccharidosis type 1

Zixuan was two years old when her family started the long process of trying to find a medical diagnosis for her increasing array of symptoms.… Continue reading Zixuan’s Story

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Tshepiso Gloria’s Story

Von Willebrand’s Disease

For over twenty years Tshepiso Gloria coped with a bleeding disorder before eventually being diagnosed. She went from doctor to doctor, hospital to hospital and… Continue reading Tshepiso Gloria’s Story

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Wafic’s Story

Duchenne Muscular Dystrophy

Soon after Wafic from Lebanon was born, his parents realised something did not seem quite right. After having spent a worrying few months in hospital… Continue reading Wafic’s Story

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Syafiq’s Story

Hypohidrotic Ectodermal Dysplasia (HED)

I am Syafiq from Malaysia and I am living with Hypohidrotic Ectodermal Dysplasia (HED). I love hiking in the jungle and jogging (which previously I… Continue reading Syafiq’s Story

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Regina’s Story

Leiomyosarcoma

Sou mãe de 3 meninos, 2 deles com uma doença rara chamada MUCOPOLISSACARIDOSE Tipo VI. Meu mais velho, Nilton faleceu aos 6 anos devido à… Continue reading Regina’s Story

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Vasco’s Story

Gaucher Disease

6-year-old Vasco from Peru loves to play, paint, dance and read. But most of all, he loves spending time with his family. It took three… Continue reading Vasco’s Story

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Nada’s Story

Epidermolysis Bullosa

22-year-old Nada, whose life has been impacted by a rare disease that makes it difficult for her to move, read and swallow, has got a… Continue reading Nada’s Story

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Taka’s Story

Retinitis Pigmentosa

Hi! My name is Taka, and I’m 36 years old from Japan. I was diagnosed with Retinitis Pigmentosa, a rare eye disease, when I was… Continue reading Taka’s Story

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Angelina’s story

Calcium/calmodulin dependent serine protein kinase (CASK)

My 5-year-old daughter, Angelina, is living with CASK-gene related disorders – more precisely, she is living with an X-linked intellectual disability, microcephaly with pontine and… Continue reading Angelina’s story

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Harvey’s story

Spinal Muscular Atrophy

My son Harvey has a rare condition; SMA, in full Spinal muscular atrophy type 1, which is the more severe type of the disease. Harvey’s… Continue reading Harvey’s story

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JK’s story

Osteogenesis Imperfecta

My name is Jon-Kristian, but you can call me JK! I am 12-years-old and I live in Norway with my family. I am living with… Continue reading JK’s story

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Tristan’s story

Sickle cell anemia

Hello everyone! My name is Tristan from the United States and I am living with Sickle cell anemia. My passion in life is fashion, design,… Continue reading Tristan’s story

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If you can help your child you can help others

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

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Glanzmann Thrombasthenia

Raymundo 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

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una cura, una ilusión

Natalia 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

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Invisible disease

Finnley 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

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“You’re too complicated”

I 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”

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Loclan the fighter

Loclan 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

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Aplastic anemia fighter

I 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

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Nevidljiva

Lijep 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

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CASK-related disorders : (January 2023)

Notre 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)

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Why I became an advocate

Me 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

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Being Your Own Powerhouse

You 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

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Moj sin boluje od 2 retke bolesti

5 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

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Ser grandes es cuestión de actitud.

Soy 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.

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The Answer is in the toes!

Isla 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!

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My journey with Nail Patella Syndrome and rare neurological conditions

As 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

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My rare world

We 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

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Diagnosed as an adult

Growing 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

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Je transcende mon handicap

Je 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

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Синдром на Гителман

Здравейте 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

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Historia de Una Familia Menkes

Soy 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

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Juntos por Said y Theo

Said 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

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Rare Role Model

My 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

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FENILCETONURIA (PKU)

Cristopher 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)

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Oh, but you don’t look sick!

My 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!

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My IIH story!

Idiopathic 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!

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“Pies, ¿para qué los quiero si tengo alas para volar?” Frida Kahlo

Fui 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

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Joyce’s story Shwachman diamond syndrome

Hi, 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

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Unraveling Hereditary Spastic Paraplegia

The 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

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DYRK1A and Me

Hi 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

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“Just enjoy him while he’s here”: An Ohio family proves unstoppable in the fight to save their son from a rare genetic disease

We 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

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Una vida para Mateo

Me 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

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Lilahs story

When 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

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Our special little Pea

Our 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

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One in a million

My 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

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Red and White Twins

Emilie 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

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Paislee’s journey with SCA29

Our 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

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La importancia de conocer los antecedentes hereditarios.

Conocí 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.

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Fynnley’s Fight

Fynnley 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

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Вродена Еритропоетична проферия

Здравейте 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

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Labrune Syndrome (LCC)

David 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)

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En Gerard de Barcelona

Soc 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

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Short leg but hopeful eyes

Sofia 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

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MARC, A HAPPY FACE DESPITE HIS RPS6KA3 GENE MUTATION

Marc, 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

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Mí Principe Guerrero

Rodrigo 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

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Leif’s Story – GNEM Patient in Switzerland

My 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

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This Little Light of Mine

I 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

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Ліза із Маріуполя .

Доброго дня . Чудова , життєрадісна Ліза , із міста Марії, із Маріуполя . Нам пощастило вибратися із окупації , та втекти від війни .… Continue reading Ліза із Маріуполя .

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Smile to life

Je 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

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Killian, Our ”Little warrior”

This 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”

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My Story with Chromosome 18q Deletion

I 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

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1inAmillion+

Meet 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+

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ცხოვრება CMT-თან ერთად

მინდა 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

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Emmett Journey with Trichothiodystrophy

Emmett 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

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Life with msud

Isabella 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

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IRF2BPL

La 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

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Ma force, ma bataille!

Je 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!

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Parallel Universe

There 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

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Io e la miastenia gravis

Era 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

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My Decade Long Journey to a Diagnosis

Within 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

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Immundefekt

Ich wurde 2014 Diagnostiziert Nach Jahre langer immer wiederkehrenden Infekten Lungenentzündungen Seitdem werde ich durch Plasmaspenden mit Immunglobulinen behandelt.

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Remédio para vida

Em 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

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Neuralgia del Trigémino

Hace 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

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Teddy’s Little Story

Teddy 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

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Ella, Our Pachy Princess

Ella 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

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Luchando por un mejor respiro y un Corazón sano

Hola 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

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Un pequeño siendo un gran guerrero

Mi 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

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Síndrome do amor

Meu 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

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Mental illness covered up my EDS

After 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

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Fighting rett syndrome positively

Mr 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

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One unplanned long rare journey full of surprises, which turns you into a wise giraffe

My 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

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Setting up a patient group

I 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

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The Gibraltar Flower Champion

Mariana 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

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My silent Angel

Our 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

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Batten Disease Warrior

Our 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

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Krabbe Journey

We 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

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PTEN researcher and trustee for patient charity

I 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

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Daruj kúsok zdravia

Narodil 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

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Strong and Brave

Owen 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

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Teddy’s DYRK1A syndrome story

When 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

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Julia mit Mitochondriopathie MTATP6 Mutation

I’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

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Deparando-me com raridades

Tenho 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

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Ayudame a seguir Sonriendo

Hola. 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

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Rare and Aware

In 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

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One more test

After 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

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Riattacco petali alle margherite

Sono 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

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Lupus made me strong…

I 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…

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It’s Not in my Head, It’s Still in my Stomach

Hi 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

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Your Blister Sister

When 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

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Sentirsi diversi senza esserlo

Sono 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

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Meet my little smiling fighter layan

Hello, 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

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“For however long” became our forever

Our 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

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Bor in delecija 8p23.1

Bor 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

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Living with CDH

I 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

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My SMA Adventure

My 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

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Warrior

Bonjour 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

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My journey

I 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

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More than 30+ years as a Rare Disease Patient

I 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

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A Short Story Long

Here’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

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The mysterious stomach pain

Hi! 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

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We tend to take our eyes for granted until they go wrong.

After 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.

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We thought it was just MS?

I 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?

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Journey to where I am Today

I 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

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Not Too Rare To Care

Hi, 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

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Katie’s Story

I 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

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Una Vida para Mateo 🌈💗

Nos 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 🌈💗

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Emily our Strong warrior

Emily 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

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Amanda’s Angioedema Story

Hi, 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

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Siempre puedo volar

Soy 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

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“A vida é uma dádiva, viva e agradeça por estar vivo!”

Sou 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!”

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Kathryn gets Answers

After 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

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Irene 9p22

Durante 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

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My Story My Journey (قصتي رحلتي)

Hello 👋 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)

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Life with UBA5

UBA5 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

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Alicia guerriera CRMO💜🦴

Salve 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💜🦴

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Self love and autoimmune diseases

Hello 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

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Adventures with Darian

When 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

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Non sono quello che mi è successo. Sono quello che ho scelto di essere. Carl Gustav Jung

Hai 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

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Helena is one of a kind, and 1 in a million!

*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!

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We know our own body better than anyone!

I’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!

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No somos raros, somos especiales

Nuestra 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

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Amanda’s story

Hi, 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

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A life in a day

My 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

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Always a Warrior, Never a Survivor!!

I 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!!

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Fort malgré la maladie

Tout 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

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That’s So Stevie

Stevie: 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

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A little princess called Gabriela

She 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

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Meus filhos – Síndrome de Menke-Hennekam

Olívia, 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

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My Six Year Old with KBG Syndrome and CP

Brantley 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

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My Stiff Person Syndrome story

Hi, 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

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Meet my princess lolo

Hello, 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

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The little brave fighter’s journey

Noyan 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

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Bravest 3 year old

Paisley 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

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Charlotte vs World

Hello 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

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She is my little fighter

My 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

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Jusqu’ici il était en bonne santé …

Louis, 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 …

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Fighting for my only life against Vascular Compression Syndromes

Constant, 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

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My Journey With The Glow

Hey 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

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CSF JOURNEY

I 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

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Ivan’s Story

I 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

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Bor and 8p deletion (8p23.1 del)

Bor’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)

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Dançar é a vida minha Gratidão

Meu 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

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GSD 1B WARRIOR

Our 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

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Christmas miracle

I 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

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CHE LA FORZA SIA CON ME

Nasco 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

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El amor no cuenta cromosomas

Hola ! 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

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The Miracle of life

Hello! 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

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When your body screams listen!

A 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!

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mother and son

Hello, 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

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How Medical Gaslighting Nearly Took My Life

Hi!! 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

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Nossa Raridade

Rúbia 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

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One Life, One Journey. Learning to live with Uncertainty

My 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

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Mi búsqueda y lucha por un diagnóstico

Un 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

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Keep Searching for Answers

It 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

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Mijn leven als eendje

Het 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

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99% success rate – my life as that 1%, the other side of the statistics

My 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

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El desconocimiento médico es aún muy grande

Fueron 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

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متحدية المرض النادر

أنا 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

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Apolline le hamster

L’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

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Star eyes

Hello. 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

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A happy story with Crigler Najjar type 1

I 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

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Plus d’humanité et empathie pour les patients en Cote d’ivoire

Salut 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

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Looking through both sides of the incubator window

On 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

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I am Smashing Pompe!

Hi 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!

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My Rare Disorder Life

I 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

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The shock of my life

Hello, 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

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Luchando contra la luz

Hola! 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

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Places We Take Ourselves

Intro 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

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what does nutcracker syndrome know, what is impossible?

I’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?

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Rui’s CDA1 Story

Rui 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

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Avery’s Fight With NKH

Avery 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

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Hereditary colon cancer live-case presentation

My 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

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IL PICCOLO GRANDE GUERRIERO SIMONE

Mi 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

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My daughter

When 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

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Finding hope in chronic illness

Hello, 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

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She believed she could, so she did.

Alicia 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.

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