Acute Intermittent Porphyria (AIP)
Hi, I’m Tasha Alicea and I am turning 40 this October. I was diagnosed with Hereditary Coproporphyria in the summer of 2020. I grew up in California but currently live in Arizona. My husband Brad and I have been married for 18 years and we have two children ages 16 and 14. Both of my children carry the CPOX gene mutation but only my son has active Porphyria. When I am feeling well I love to go tubing or kayaking down the river for sunset floats. I love being with my family and friends and I love decorating and doing DIY projects with a passion. Fall is my absolute favorite season, give me all the pumpkins! When I was 29 I started having mild symptoms and a few attacks that landed me in the hospital. Doctors ran all kinds of tests and I saw all kinds of specialists but no one could figure out what was going on and just treated the symptoms. When my family and I moved to Arizona, the summer of 2016, I started getting sicker and was in the hospital more frequently. Same routine doctors ordered all these tests and everything came back negative so they just treated the symptoms. In fall 2019 I randomly got a new doctor because the one I was seeing had left the practice and this new doctor was so thorough and determined to figure out what was going on with me. At the time I was annoyed because I had seen so many doctors and specialists and no one could figure it out so surly this new doctor couldn’t possibly know what it was. I was very stubborn and jaded from past and I didn’t want to do anymore tests because to me at the time felt pointless and it so costly. It wasn’t until I was having a bad attack where my arms and legs hurt so bad and I could barely walk or move that I was willing to take a test. I thought it might have been Lupus because my Grandmother and Cousin have Lupus and have mentioned when they are in the sun too long, their arms hurt and have a flare up. My doctor ran the test for Lupus, MS, Rheumatoid Arthritis, and Porphyria. I was positive for Porphyria and then took other tests and the genetic test to confirm and figure out what type. Shortly after my diagnosis I was realizing my sons symptoms were very similar to mine. In fact he was currently in the hospital for pancreatitis. I had asked for him to be tested but all the doctors said it was rare and not possible for him to have it. At the time he was 12. We followed up with a G.I. Specialist and did all the tests she requested all came back negative and we even did the surgical procedure to check his intestines by doing a scope down the throat and through the rear. In the middle of the procedure she came out to tell us it was perfectly normal and she wanted to know about my rare blood disease to test him for that, which of course came back positive and his genetic test positive as well. We have had to make some big life adjustments and are learning to navigate this new lifestyle. We have a lot of hard days but we do have good ones and we hold on to those good days to help get us through. We have so much support with friends that live by us and my husband and daughter are amazing at being our caregivers. I’m so grateful for APF and the FB support groups where I can learn and connect with other porphyria patients. It’s been a real life line.