The Voice of Rare Disease
Patients in Europe
Prader-Willi Syndrome: A Story of a Rare and Unique Life
My name is Pia. My husband John and I have a rare and unique daughter, Olivia, who is 15 years old. Olivia was diagnosed with Prader-Willi syndrome (p-ter-q 11.1) and also partial monosomy of chromosome 10 (p-ter-p14). Olivia was diagnosed a week after birth because I demanded a chromosome test as I knew something was wrong. She was a premature child. She looked different and didn´t move her arms or her legs.
When we received the test results at the hospital we were told that they had tried but couldn´t find another person in the worldwide genetic bank with the same damaged chromosomes as Olivia. They told us to be prepared for the fact that Olivia wouldn´t survive because no one, as far as they knew, could survive with such damaged chromosomes.
I recall the moment when I had finished reading the information about Prader-Willi syndrome that the hospital provided. I was lying on the kitchen floor, crying my heart out, saying to John, “A monster, I have given birth to a monster”. But then I had a phone call that changed everything. It was from my brother-in-law Bruno, who also happens to be a doctor. He asked me to read about Down’s Syndrome, a disease that is better known within society, and to reflect and compare what I already knew about the syndrome with the information provided. He did this to make me understand that information provided about different diseases always reflects the most serious case. Reading a long list of symptoms of a disease on the internet may not reflect the reality of what it means to live with that disease.
I realised life had taken a path other than the one I had planned. The images I had had of my child before I gave birth disappeared and a new, rare and unique picture appeared.
Olivia shows many of the typical signs of living with Prader-Willi: a chronic feeling of hunger, low muscle tone, cognitive disabilities, problem behaviors and frequent skin picking. She has learning disabilities and borderline intellectual functioning. Her communication skills have developed from sounds to a combination of speaking with using pictures and sign language. She has attended a special school since 6 years of age and it’s working better than I could have imagined! She has friends, all living with different challenges - she is normal in a rare environment.
But Olivia is so much more than the syndrome - I do separate them. Like this morning, when she screamed “I hate you, I don´t want you anymore, I want a new mum!” I stared at her with surprise at her communications skills and it warmed my heart to know that she is a teenager. Or the time when we were driving the car and she saw a cow, laughed and said “Mum! Bang! Bang! I´m hungry”; I was amazed at her ability to make that association. She is talking about moving out of our home when she gets older. She is training our dogs and she can drive a riding lawn mower. She phones her grandfather and she can tell me that she called him. She can handle and ride a horse if someone is leading it. She has a photographic memory and can tell me if I´m driving the wrong way.
Olivia isn’t only rare, she is unique. She has showed me the mystery of being a pathfinder. She has taught me that the impossible can be possible and that normal is a definition created by the most common. She is my daughter and I love her deeply.
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