Heroes – Rare Disease Day 2022

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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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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Even cystic fibrosis and diabetes didn’t stop my dream of becoming a mother, after 6 years we have a healthy son

We 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

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Our Jerguš is a creative and fun boy! Why should we convince him he’s sick?

We 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?

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The way people see me!

In 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!

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Are you looking at me?!

Hello! 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?!

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“It’s all in your head.”

What 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.”

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My Life with episodic ataxia

Why 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

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SeAndrea’s Myasthenia Gravis Story

On 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

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Pituitary Cancer, Addison’s Disease, and everything in between

To 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

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Living with Angelman Syndrome-UPD

Conner 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

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A Life Without Pain

Our 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

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My aplastic anemia story

In 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

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Mein neuer Reisebegleiter: Paranodopathie

Ich 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

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Two rare babies

Our 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

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Just a boy with a rare disease

Hi 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

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Brighter days are coming

I 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

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Overcoming Challenges One Breath at a Time

My 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

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Hope for AADC Deficiency Community

Our 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

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The Big Sunflower Project

My 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

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Fighting for my eyes, fighting to be seen

I 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

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Tango2 Warrior

Lillian 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

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Logan’s story

My 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

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Adam, The AI Warrior

Dobrý 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

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Living Beyond HAE

My 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

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Self Advocacy: A young timid girl to an outspoken woman

When 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

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NJA > NKH

Nora 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

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Making the Most of Now

I 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

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My hero

Meet 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

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She Rejoices in Hope

Hello 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

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My Hero

My 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

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Jimena Mañán Mena

Jimena 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

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Alex is totally Jawsome!

On 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!

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Madre e hija viviendo con una Enfermedad Rara

Fui 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

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Finding Our Moon’s Mission: to cure SPG56

This 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

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Pika Bindi ~ rare genetic disorder called EEF1A2

Living 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

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My journey with CVID

I’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

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From a athlete to a cancerpatient

I 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

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Luchar diariamente

Mi 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

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Nora notre phénomène

Nora 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

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A slow Eclipse

In 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

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The Strength is Within Us

My 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

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Sia Strong

In 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

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My life with Friedreich’s Ataxia

My 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

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