The story of Colin
Like many people suffering from porphyria, I have been dealing with the disease longer than I knew. My diagnosis was delayed and convoluted due to a high speed, head-on, automobile accident I was in when I was 10 years old.
In my late 20s I began my professional career in non-profit communications and finally met and fell in love with the woman I was meant to marry. During our engagement I had a mysterious abdominal illness that went on for months. It began with a case of mononucleosis from which many complications sprouted. The doctors decided that I had abdominal adhesions and scar tissue from the surgery after my car wreck which was responsible for many of the complications. Over the next couple years, I continued to have frequent episodes and had my first seizure in 10 years. I also started to develop severe back pain which again the doctors attributed to the injuries from my car wreck.
In the summer of 2015, it all happened again. Everything. Abdominal problems, back pain, tremors, severe mental distress, paralysis in my arms, frequent falls, paralysis of my legs, tachycardia, high blood pressure…needless to say I was hospitalized. This time, the IVIG wasn’t working and I was put on Klonopin to relieve the anxiety and hypertension. Things only got worse.
They conducted an exhausted list of tests and exams, they left no orifice unturned. Of all the state of the art testing that they performed, the one test that provided me a diagnosis was as simple as peeing in a jar for 24 hours. And sure enough, my total porphyrin level was 1152 with the normal range being 0-2.0 and the genetic test confirmed, I have AIP. I’m a Porphie.
Looking back this has been a tough 18 years since my first seizure but I can’t help to be happy where I am. I am doing something that I love, I work in my shop as my health allows, I have an incredible wife and our marriage is so strong because of what we’ve been through. Sure, some of the paralysis may be permanent and I have some new scars but I have an incredible wife who I love more than anything else on earth and I have a long life ahead to spend with her. What else do I really need?
Connect with other people living with Porphyria – RareConnect.org