This blog post is about having something that is so rare that many doctors have never heard of it. Maybe some specialists have never even heard of it. My neurologist at the best neurological centre in the Netherlands commented about me being the first person with this syndrome he had ever seen. He, surprisingly, had heard about it. However, due to it being so rare he couldn’t give me much information on things I am currently struggling with.
My most heard answer when going to the doctor with an issue is: “I don’t know” or “I don’t know why this happens” or even “This may or may not be related to your Poretti Boltshauser syndrome”, said while frantically looking up how to pronounce the syndrome. It can be frustrating, and makes me feel misunderstood a lot of the times. However, I also know doctors are trying, and some doctors really do try to help me.
I have a GP (huisarts in Dutch) who is really great. I came into his office one day and said: “I get a fever after exercising sometimes. I find that strange.” And he said to me: “If you go out for a walk for, lets say 10 km, and schedule to do some bloodwork right after, maybe we will find out what’s wrong.” Unfortunately that time, I did NOT get the fever. However, his willingness to test these kind of things makes me feel confident that he listens to me. He does not write it all down to “Poretti Boltshauser syndrome”. He actually investigates and wants to know what causes something.
To others who have Poretti Boltshauser Syndrome, or to any parent of a child who has PBS: you know how your body / your childs body works! Do not let doctors second guess you. Know your strenghts, know how your body functions normally. Keep track of things, like headaches or muscle pains. Let doctors know that you know what you are talking about. Advocate for yourself or your child. Documentation like this can be really helpful when you are facing a problem.
I want to add this: I am really grateful for the little community we have on the Facebook support group. It helps me feel less alone. It also helps me to be able to know what symptoms other people experience as well. Sometimes it can be really difficult to navigate through the world with something that so many people know so little about.
I have to explain myself many times to people who don’t understand. Doctors, teachers at school when I was younger, the people who I work with now, sometimes family. Especially the fatigue is difficult for some people to understand. No, I can’t just take a nap and feel better. No, I can’t go to this volunteer meeting at 7 PM and show up to work the day after. No, some days I can’t do anything other than my household chores. Yes, I really need to go to bed at 9:30 PM or else I will not be able to sleep properly. Yes, I really do have to skip this family gathering or I really cannot stay for dinner at this family gathering. And also yes, I have tried many times to do things differently. But this is me, this is how my body works and how I chose to help myself with my fatigue.
I am now in a place where things are going quite well. I am married, have my own business and feel happy in general. But it has been quite the way to get here. I don’t think I could have done it without my mother who supported me until I could advocate for myself. I do still struggle with some things, some of the mental aspects like ADHD. But I believe that we will all manage to get to a place where we feel happy and content. At our own pace.