Too often, rare-disorder patients stop seeking treatment, because they're overwhelmed with all the medical appointments and they've come to believe that nothing can be done about their condition.
While it's understandable, it's also risky. Many XLHers have reported not knowing they had a broken bone for weeks or even months after the injury, because the pain didn't feel significantly different from the routine bone pain they'd experienced without having any broken bones.
Once in the habit of ignoring bone pain as just something to live with, it can be easy to ignore pain in other parts of the body. Again, we've heard many stories of XLHers not realizing they had a serious medical condition, because they were used to living with pain and waited longer than they should have before seeking medical treatment.
For most people, it's a fairly simple formula for deciding whether to go to the doctor: if they hurt, they seek treatment. For someone who hurts all the time, it's a more complicated decision, with a lot of trial and error and wondering if the right decision has been made.
For some suggestions that might make the decision a little easier (but not completely easy!), check out this guide from Psychology Today online.