Alissa
My name is Alissa, I am 25 years old and I have Poretti Boltshauser Syndrome. I live in the Netherlands.
When I grew up, the syndrome did not exist. I got diagnosed with Ocular Motor Apraxia, ADHD and PDD-NOS. I also got diagnosed with irritable bowel syndrome. Now that I have the PBS diagnosis, it is like puzzle pieces falling in place.
My diagnosis of OMA came when I was 2 years old. I did not see well and could not track objects with my eyes or walk very well. I had balance and motoric issues. School and learning wasn’t really a problem, I was a smart girl and was good at math and reading. Until I had to read lots more. When I was 15 I started to have learning problems. I did graduate Higher General Secondary Education. My exam year was split in half because I couldn’t take all the classes in one year anymore. I got too tired from reading so much.
I got diagnosed with ADHD and later on with PDD-NOS when I was 11 and 13. I was really socially awkward and did not understand social rules properly. I didn’t really understand emotions of other people, because I have trouble showing them on my own. With medication, things got better and I did not need to take them anymore when I was 18.
When I was 17 I e-mailed the University of Washington because I wanted to participate in a research they did on OMA. They wanted to know if it was hereditary. I sent them my MRI and they told me they suspected PBS. It was a shock for me, because it explained everything. I am very grateful to have a diagnosis and not have all these loose diagnoses to worry about.
More information about me – I made this website to help other people understand what PBS is and how it affects a person. I am a massive soccer fan and really love listening to music.
