Growing up with a rare syndrome

The story of Alissa

While growing up I was diagnosed with all kinds of rare things (Ocular Motor Apraxia for one). But much to my surprise, at the age of 18 I was diagnosed with a much much more rare syndrome called Poretti Boltshauser Syndrome. I would like to share some things about how that was for me.

Poretti Boltshauser Syndrome is a genetic disorder and you are born with it. The cerebellum and the eyes are underdeveloped which gives a lot of issues like with motor skills or balance. Some children with PBS struggle to speak and others struggle with other things like swallowing food. Autism and ADHD symptoms are not unusual in people with PBS.

I have felt different from other children from a very young age. I believe I was six years old and noticed how other children could do things very easily while I struggled. I remember feeling sad and like I didn’t belong. It was very difficult for me to process at that time.

Later in life I kept struggling and eventually I was so tired and trying so hard I got a burn-out at the age of 17. It was all just too much and I tried to fit in way too much. I pushed my boundaries just to be “normal” and I learned the hard way that this was not the way to do it.

After my diagnosis a lot of things made sense. Why I was struggling so much, why nothing seemed to make sense. PBS was not invented yet when I was a little kid, so I could have never been diagnosed back then.

Through Facebook I found a group with people like me, or mothers to children who are like how I was when I was little. It makes me feel good and proud that I can give them advice! It makes me feel like some sort of guidance. I can provide others with the guidance that I would have liked for myself and my mother.

Thank you for reading my story.