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Acute Intermittent Porphyria (AIP)
I was always somewhat tired and weak, with many strange sorts of pains. I was used to going to doctors and them not finding anything WRONG from early childhood, and I never knew how other kids felt, so I assumed it was the same.
The truth is, I had two big health problems.
One started at infancy, the other joined in at about the age of 12. I was used to pain and dealing with it quietly, so I didn't tell anyone I started having horrible back, stomach and pelvis aches, with horrendous nausea, before and during my periods. I'd almost faint with pain and weakness, and thought "this is normal, all girls have it, don't make a fuss".
I started fainting or feeling very sick and weak after big exertions or during hot days. I started having pains like an axe stuck in my back with radiating pain all over.
My parents noticed something was wrong. I couldn't hide it all, so i went to more doctors with my parents and had more tests and still nothing was found .
At 18, I had a major bad spell that lasted a few months with terrible weakness and pain all over. When a young doctor saw me, I felt hopeful after a long while, because she promised to find out what's wrong with me. At the next appointment she told me her head of depatment asked to have my case and to see him. I thought it must be good, they are taking me seriously! But then I met him. He said: "Yes, I believe you do feel pain, but you see, it's not real, you need a psychiatrist, and soon, go make an appointment right now!" I was devastated. I felt so lost and angry and frightened.
Time passed, I felt better, and started my life again. Every month around my period I had a week of hell, and I had months when I couldn't work or go to college. However, I pressed on. That was my life, but what could I do? One time when it was so unbearable I went to the E.R. They gave me ibuprofen and sent me home. My life went on and on like this with no diagnosis and no treatment.
At 23, my body collapsed. I moved back home with my parents, a total wreck. I almost couldn't walk from weakness and pain. I lost weight rapidly, felt half crazy with anxiety and had nightmares and cried on a daily basis. Some days even breathing was a real struggle.
I was diagnosed with Hypermobility, Fibromyalgia and Chronic Fatigue Syndrome. I was told by a doctor to go find hobbies and make friends. No offense, no one I knew with those diagnoses seemed similar to my state, they told me so themselves.
At 32 I got diagnosed with Ehlers-Danlos and POTS. More like it, but my new doctors said it does not explain all my symptoms. Keep looking. Only after making a neurologist refer me to genetic counseling did I finally get my answer. At the age of 39, I was diagnosed with Porphyria., specifically, AIP. The wonderful genetisist contacted the only Porphyria doctor in my country , Israel. She immediately made an appointment for me. My urine sample confirmed my diagnosis.
Finally!! At last, everything fit! I started Givlaari a year ago. No more real attacks and no more high Porphyrins and precursors in my system, slowly damaging my nerves. Since the Givlaari , one type of pain is much better , and I need a bit less chronic drugs. That is wonderful!
Still, I have extensive nerve damage, peripheral neuropathy of the sensory and autonomic systems. I use a mobility scooter and lie in bed most of the day and concentration can be hard. I have very strong chronic pains and nausea and my mental health is a struggle. And yet, my wonderful husband chose me, with all this package. We actually had a sofa at our wedding for me to rest on whenever I needed. His and my family help us and accept me and love me , and I am so greatful for them all.
Since I got diagnosed, doctors suddenly see me, taking me very seriously. It is so strange to me. I am sad and frustrated at all the unnecessary damage and suffering, of being left disabled, but I hope more nerves will recover, I was told it is possible. Will you hold your fingers for me?
Editor note, We will do more than hold our fingers. We will send our love and keep you in our prayers. You will find many caring friends in our social media. We also ask people around the world and in her country to reach out to Efrat . We all understand and thank you for sharing your experience.
