Brittney, Ehlers-Danlos syndrome type 4, United States, February 25, 2021
Each year I've learned more about living with a illlness that could end fatal , learned just to do the most enjoyable and normal things but yet prepare for the totally unexpected. Learned to always ha...
Brooke, Ornithine transcarbamylase deficiency, Australia, February 25, 2021
Hi there! I never know where too start when writing, so I guess I’ll just start with saying over 6 years ago I wrote one of these, and I didn’t love the reality of how I wrote it back when I was in y...
Maria, Beta-thalassemia, United States, February 25, 2021
Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...
Pasusant, Chronic myeloid leukemia, Thailand, February 25, 2021
I was diagnosed with a chronic myeloid leukemia (CML) more than 20 years ago. I was 35 at the time. It’s hard to explain what it feels like to be diagnosed with a rare disease, especially at this age....
Tomasz, Duchenne muscular dystrophy, Poland, February 25, 2021
Witam.Jestem mamą Tomcia.Jest naszym pierwszym dzieckiem,ukochanym i upragnionym.Urodził się w 34 tyg ciąży.Wody płodowe sączyły się.Tomcio rozwijał się wolniej od rówieśników.Miał słabe napięcie mięś...
Sarah, Osteogenesis imperfecta type 1, United States, February 25, 2021
I was born with OI type 1. Unfortunately, no one knew what I had till I was around 8. In total I've broken my femurs 7 times. It was very hard for my parents and myself because of the lack of knowledg...
Felicia, Lamb-Shaffer syndrome, United States, February 24, 2021
Lamb Shaffer/ SOX 5 gene syndrome, MicrocephalyHi, my name is Mila and I am 19 months old. I was recently diagnosed with a partial chromosome 12 deletion, which encompasses 23 genes including the Sox ...
Martina, ANCA Vasculitis, Germany, February 24, 2021
Hello, my name is Martina. I am from Germany, and my diseases is a ANCA Vasculitis- MPA. The disease attacked my kidneys and in January 2019 I almost died. I had a sepsis and nobody has seen it. My i...
Lindsay, SLC6A1, United Kingdom, February 24, 2021
Our kids are the best of friends. They are a cheeky, caring, funny pair who are learning to share the world around them. Sadly, they now share a rare disease. SLC6A1 was discovered in 2015. Our son wa...
Anna, Alkaptonuria, Slovakia, February 24, 2021
This is my story - just beeing shared in Slovakia:http://sazch.sk/zivot-s-chorobou-ciernych-kosti-nemusi-byt-az-taky-cierny/?fbclid=IwAR0fjlaLnlPgAiY6af7Mu38RC3vEawXvVv8cY1ZKYG-h2mpofJ33WOX6anUAnna, B...
Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021
Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...
Katie, ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, Ireland, February 24, 2021
Lucy was diagnosed on the 8th April 2015 with ADNP Syndrome through the DDD Study in Cambridge University in the UK, she was the first of two children to be diagnosed and in the July of 2015, Lucy was...
Claudia, Williams syndrome, Argentina, February 24, 2021
Mi nombre es Claudia, mamá de Nahiara, ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...
Suvi, UBE2A Deficiency Syndrome, United Kingdom, February 24, 2021
We are so proud of our gorgeous boy and how he is coping with a rare genetic condition, UBE2A Deficiency Syndrome. Jacob was only diagnosed last July and is now 2.5. His condition affects his motor de...
Heba, Perthes disease, Egypt, February 24, 2021
It all started with a limp. A sudden limp changed the life of my active son and my life. My name is Heba and I am writing the story on behalf of my son Mohammad who was diagnosed with Perthes disease ...
Lilliana, 12p13.32 deletion, United States, February 24, 2021
I'm Lilliana, and I'm truly one of a kind! I have a 12p13.32 deletion that no one else has, but that isn't stopping me! My mommy says I have the best smile ever and the biggest eyes. Even though t...
Imogen, Coffin Siris Syndrome, Australia, February 24, 2021
Imogen was diagnosed with Coffin Siris Syndrome at 2 years old! She loves to swim, dance and enjoys going to school with all her friends! She is rare and fabulous and has so much to offer the world! S...
julia, Primary Lateral Sclerosis, United States, February 24, 2021
My story begins in 1988 when I was living in Charlotte, NC. I began noticing something amiss with my gait. I was 39 with two young children, and very active. After a few months, I contacted a neurolog...
이재욱, Facioscapulohumeral dystrophy, Korea. Democratic People's Republic of, February 24, 2021
안면겹갑상완형 근이영양증youtubehttps://youtube.com/channel/UCJZ3usjt76xne-f_F6jNO5A
Jana, Primary Ciliary Dyskinesia (PCD), Germany, February 24, 2021
Do you know the feeling when you know that something is wrong but no one believes you? When you've seen many doctors but none of them can help you? When they tell you, you're child will probably be be...
