Maybe a heavy subject, but the thoughts a child or a parent who gets this diagnosis can be exactly these words. Why me? Why my child?
Poretti Boltshauser Syndrome is when both parents have one defect LAMA-1 gene. When they get a child, there is a 25% chance of the child having PBS, 50% chance it will only be a carrier of the defect gene, and another 25% chance they will be totally fine with no affected genes.
However, children with PBS got both of the bad genes, being the first 25%. Now, you as a parent may feel guilty for passing this along. But I don’t think you should. I needed much care when I was little, but I managed to be able to live independently and find a job just like a ‘normal’ person. So there is no need to feel sorry, or ashamed, or bad at all.
Now, I can understand that you do. Or that you as a child have the question asked in the title. Why me? Why not someone else? Why do I have to live with this? I have asked myself many times if I would want to start over my life, without PBS. And most of the time I say I wouldn’t. Because, how hard it may be in life, my Poretti Boltshauser syndrome made me into who I am. So I may have had more struggles than others, but I also overcame them and can be proud. I am my own unique person. I graduated high school with a good score, I succesfully did an education afterwards, I am engaged and get married next year. So everything turned out to be just fine.
The thing is that you learn to live with it. The PBS does not define you, but you are your own strong person, who happens to have PBS. Which you learnt to deal with. You know your boundaries and your strengths. You know your weaknesses. Let me tell you: that is a real positive thing! A lot of people don’t know their limits, go over them, and have a burn-out. Much people do too much work, try to please everybody but themselves, but you know how to properly take care of yourself. And I am sure you will, because that is how things work.
However it sounds easy to just say “I am not my PBS” it has taken me a lot of time to completely accept it. Coming from a family of perfectionists, I put the bar very high for myself and felt like I was letting me and them down all the time. Over many years I have learnt to say “this is the best I can do, and I should not aim higher than I can”. And that is very important.
As I write this it sounds like I don’t think ‘Why me?’ that often, but sometimes it still crosses my mind. I want to be able to go out with friends without feeling completely exhausted afterwards, I want to have fun birthdays with people. I want to study in university. But I had to accept that I can’t. Maybe I will, one day, but not right now. It is hard, I did cry a lot, but I did accept it in the end.
What I am trying to do with this post is to make you feel heard. I know what it feels like, having all these questions about yourself or your child. I hope I have achieved that.