Orphan/rare disease and pain?

Just wondered if any of you out there have been diagnosed with rare or orphan genetic diseases and also suffer from pain? I have been diagnosed with IP (incontinentia Pigmenti or also known as Bloch-Sulzberger disease) which is a really rare genetic dermatological disease which affects most of the body, though, there's hardly anything known about it and not much research on it at all... I just wondered if anyone else has this same condition or another one, and also suffers from pain? The disease I have isn't classed as an autoimmune disease (YET!!!) , despite the fact that it affects the skin, can destroy nails, eyes, teeth, and goodness knows what else... With my mother, it ate away at some of her bone so she had half a finger amputated... essentially, the body IS attacking itself. Anyway, if anyone has a similar situation/experience, I'd be interested to hear about it.

3 Replies

  • Wow, what a monstrous burden you've been given. Shame there's no real knowledge of it. So sorry your battle is double, pain and something most doctors never heard of.

  • Thanks for your kind words; yeah it can be difficult

  • Let's hope they do some research and get some answers

You may also like...