The story of Joanna
As far as rare disease patients go I am fairly lucky. My main condition a primary immune deficiency called hypogammaglobulinemia, has a treatment called immune globulin which is made from plasma donations. I get weekly infusions once a week and it has reduced my infections and complications significantly, giving me a shot at life. I also have a rare skin condition that I was diagnosed with 2 years ago called porokeratosis. It also has some treatments but nothing that works as well for me, so I struggle with with itching and lesions that have the potential to become cancerous so they have to be checked monthly. I had struggled for decades with serious illnesses before my primary immune deficiency diagnosis so I know how blessed I am to at least be diagnosed. Many are not that lucky. Still science has a way to go before its caught up with me, but I also can’t help but think that its also the best time in human history to be sick. Sure there will be many more cures and better treatments in the future, but I have been blessed with 4 decades of life so far, an opportunity primary immune deficiency patients of the past didn’t have. Before antibiotics I doubt I would have lived long enough to even know my own name, and without Immune globulin I know I would have passed on many years ago, already becoming a distant memory. For this I am glad to have been born when & where I was, though I will never stop hoping and fighting for better treatments and cures for myself and for everyone faced with a rare disease. Keep fighting and never give up hope. One day it will be easier to live with rare diseases, but in the meantime we are all a part of making that dream a reality. What could be more important than that?