Elisabet, VLCAD deficiency, Spain, February 6, 2019
Alicia nació mediante un parto inducido a la semana 41 y un dia. Pesó 3,640 kg en un pequeñito cuerpo de 47 cm. Era perfecta y todo habia ido bien. Pero a las 24 horas de nacer empezó a tener.problema...
Stacey, CHAMP1, United Kingdom, February 5, 2019
There are currently only 51 people in the world diagnosed with CHAMP1 gene mutation. The CHAMP1 Foundation is an organisation created for parents of children with developmental delay, hypotonia, cere...
Marta, Complex regional pain syndrome, Spain, February 5, 2019
Desde hace 11 años tengo Síndrome de Dolor Regional Complejo. Una enfermedad rara, poco frecuente. E invisible. Me diagnosticaron cuando llevaba casi 6 años enferma.Sufrí un traumatismo en el pie dere...
Diane, Mucopolysaccharidosis type 4A, South Africa, February 5, 2019
Matthew May’s Rare Disease story is like many; it has a beginning, a middle but no end... Unlike many Rare Disease stories; it is full of hope, success and triumph over all the odds.Matthew is a littl...
Jill, Hereditary angioedema type 3, United States, February 4, 2019
My name is Jill, I am 34 years old, and by the looks of me most of the time, I am a normal green haired, tattooed mega nerd from Northern California. I can often be found wearing bright, bold clothes,...
Tim, Progressive supranuclear palsy-parkinsonism syndrome, Canada, February 4, 2019
An ordinary man... with an extraordinary story. Diagnosed at age 57 with early onset dementia and a rare brain disease. No treatment-cure.
Mia, HNPP, Belgium, February 4, 2019
In 2010 werd diagnose gesteld, nadat ik steeds meer moeite kreeg met stappen. Ook kreeg ik vooral tintelende , branderige ledematen en het gevoel op wolkjes te lopen. Via DNA-onderzoek heeft men kunne...
Jennifer, Complex regional pain syndrome type 2 (CRPS2), Spain, February 4, 2019
Mi nombre es Jennifer, tengo 31 años de edad. Desde 2017 tengo síndrome de dolor regional complejo (CRPS), se clásicamente conocida como distrofia simpática refleja (RSD) o síndrome de Sudeck. Una enf...
stephanie, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, United States, February 1, 2019
On April 25, 2012 my husband and I welcomed our first child into the world. The doctors said he was healthy and we went home within the two days. Instantly we started to notice things were not right. ...
Jakesha, Lymphatic Malformation, Virgin Islands. U.S., February 1, 2019
Born with a rare condition called lymphatic malformation, I was flown out from my little island to PR to be diagnosed. Bounced around a few doctors, I then settled in Boston. I’ve had well over 40 sur...
Joey, Galactosemia, United States, February 1, 2019
Joey is a happy, loveable, funny, 8-year-old, with one rare difference – he has a Metabolic disease called Galactosemia. Joey was diagnosed at three days old via New York State’s Newborn Screening Te...
Φραγκουλα, Huntington disease, Greece, February 1, 2019
Για 20 Χρόνια περιθαλπω τον σύζυγό μου με την ασθένεια. Υπάρχει ενδεχόμενο 50% να το έχει κληρονομήσει η κόρη του....
Kailee, Primary ciliary dyskinesia, United States, January 29, 2019
I gave birth to the most amazing little girl on August 31st, 2016 at 11:51 PM. She weighed 7 lbs 10.5 ounces and was 21 inches long. She was the most beautiful little thing and was absolutely perfect....
Cindy, Hereditary pulmonary arterial hypertension, United States, January 29, 2019
Myself 58, my son 38, and my grandson 7 all have Pulmonary Arterial Hypertension. My mother passed away with it when I was 15 and she was 39. My brother was diagnosed with PAH at 42 and passed away at...
Jesper, ADNP-related syndromic intellectual disability-autism spectrum disorder, Denmark, January 28, 2019
My son Albert found his tribe in the spring of 2015. He was 5 years old then. Born in 2009, Albert had a rough start to life, barely surviving birth. Due to a congenital heart defect, Fallots Tetralog...
Courtney, Progressive Infantile Idiopathic Scoliosis, United States, January 27, 2019
In December, my 18-month-old daughter, Whitleigh was diagnosed with Progressive Infantile Idiopathic Scoliosis. While scoliosis is not rare, this form of it is! Only 1 in 10,000 children are diagnosed...
Margaret, Trimethylaminuria, United Kingdom, January 27, 2019
Hi everyone, I'll keep this brief.I first noticed I had a problem over 30 years ago, just after I'd had my first child.There's a very definite look that people give you when you smell. The sort of fac...
Tânia Vargas, Osteogenesis imperfecta, Ehlers-Danlos Syndrome, Portugal, January 27, 2019
Parenting is a journey that no one prepares you for, especially when we're parents for the first time. We can read many books, learn many theories, but when it comes to practice, reality is very diffe...
Hanna, Bannayan-Riley-Ruvalcaba syndrome, Germany, January 25, 2019
Hanna wurde mit 28 Monaten BBRS diagnoszitiert.Schon bei der Geburt hatte sie einen schwachen Muskeltonus und erreichte keinen Entwicklungsmeilenstein.Sie hat eine Tracheomalazie und ständig Bronchiti...
Sharon, Intrahepatic cholestasis of pregnancy, United States, January 25, 2019
It was my first pregnancy - the first child for both my husband and I - we were elated! We had just been married 3 months when my pregnancy test showed that positive sign and we were excited to be sta...
