My life with porphyria
Finally sitting down and writing out my health journey from the last couple years. Many of you know, but I was diagnosed with a rare genetic blood disorder at the age of 19. I wanted to take the time to explain what that looks like in general but also on a daily basis. I want to use my story to educate others, but also encourage others who are experiencing hard seasons of life. I believe sharing your story is such an important part of the journey!
So, I have Acute Intermittent Porphyria (but I just say Porphyria or AIP for short). I am in the 3%-5% of affected individuals that experience recurrent attacks, which are defined as more than 4 per year, for a period of many years. Basically I have an enzyme deficiency. I am deficient in the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD). Because of this I have an over accumulation of toxic porphyrins in my body. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Only a few years ago they came out with a drug called Givlaari, so between Givlaari and Panhematin (Heme), those are the only two things that work for my body. Unfortunately, it’s not that simple though. Heme can only be given through a picc line, or sometimes through an IV if you’re getting a small dose and have big veins, which I do NOT haha. So heme is what I receive when I’m in the hospital. I have to get 4 doses total, one every 24 hours. When I was first hospitalized back in 2022 I thought I was just cramping, but it became super severe abdominal pain and we realized it was my first attack. Stress and menstrual cycles can cause symptoms. Large intakes of sugar and carbs help, but once it’s gotten to a certain pain level only heme can take away the pain for good. There are many signs I could be having an attack other than abdominal pain. I’ve had pain in the back, arms and legs, muscle pain/weakness, nausea, confusion, constant heat flashes, hallucinations/seizures, and insomnia. When I had covid, the stress on my body from that triggered an attack and that’s when I was in ICU because my sodium levels in my blood decreased and I actually was completely out of it for 2 days. I had a few seizures and was on a feeding tube. I’m so thankful my Dr. told me about panhematin, because that’s what really helped my recovery. Givlaari is what I currently receive each month. It’s a shot I typically get in my arm. I go to outpatient at the hospital. First, they check my blood levels, then I see my doctor, and then receive the shot. I’ve been doing this for almost a year, but last month I actually had an allergic reaction to Givlaari. My arm swelled near the injection site, and my face and lips went numb. They gave me benadryl right away, but the face tingling and swelling started again after 4 hours. I was on benadryl for 4 days. Not fun. And super hard to focus at work or socialize with others. This month I’m receiving 3 different medications prior to receiving Givlaari in hopes to prevent the reaction. A week or so after my reaction I actually started experiencing some symptoms of a porphyria attack without the pain. When I went to my doctor they saw that my levels were low, so I received dextrose (D10), 4 bags total over two days, to get a good amount of sugar in my body. Givlaari helps reduce attacks, but they can still occur. This really has affected me mentally and physically, because even though I’m not in the hospital (which I am SO grateful for) it is still hard to do everyday things.
I’ve been going down to the altar at church for healing in my body over the last few years. Even though I haven’t been healed yet, I do know that this struggle has a purpose. I was reminded on the same day by two different family members about the passage in 2 Corinthians (love when God uses multiple people to relay the same message). 2 Corinthians 12 talks about Paul’s thorn in his flesh.
“Therefore, in order to keep me from becoming conceited, I was given a thorn in my flesh, a messenger of Satan, to torment me. 8 Three times I pleaded with the Lord to take it away from me. 9 But he said to me, “My grace is sufficient for you, for my power is made perfect in weakness.” Therefore I will boast all the more gladly about my weaknesses, so that Christ’s power may rest on me. 10 That is why, for Christ’s sake, I delight in weaknesses, in insults, in hardships, in persecutions, in difficulties. For when I am weak, then I am strong.
We don’t know what Paul’s thorn was, but it’s clear that what he experienced was hard and affected him not just physically but spiritually! The enemy can bring all kinds of hardships to your life if God allows it, but I love how God turns it for good. I have truly found Christ’s strength and power in this season of my life and I wouldn’t trade that for anything (not even healing).
If you have a disorder or hardship that God has not answered your prayer on, hold on to this passage. Ask the Lord why he is allowing this in your life. Nothing is ever wasted with God.
