Acute Intermittent Porphyria (AIP)
My name is Kristen Edwards. In 2018, when I was 33 years old, I was in severe pain for three weeks after reducing my carbohydrate intake. I went to the ER multiple times with 10/10 pain and was sent home each time. I was finally admitted by ambulance to Hackensack University Medical Center in NJ and stayed for 6 days in the cardiac unit because I was critically ill. I had SIADH with a dangerously low Sodium level of 112 and was treated with 3% saline. I had severe pain in my stomach, chest, and back, anxiety, insomnia, tachycardia, etc. A general surgeon was the first person to tell me that I was having an acute intermittent porphyria attack. After checking my 24-hour urine ALA, I was sent home with a probable diagnosis of porphyria. I continued having severe pain radiating from my pelvis, aching of my skin, and feeling shaky and very cold. My internist didn’t know what to do, and he called three hematologists who could not offer any suggestions.
Dr. Manisha Balwani at Mount Sinai answered an email I sent begging for help. She helped me get hemin treatments, and after a 5-day hospital stay, I finally felt better. After this attack, I had a blood test to confirm that I have acute intermittent porphyria. Since then, I’ve continued to have porphyria attacks which have been severe and required inpatient stays, and some attacks which have been managed at home with outpatient hemin. I started Gilvaari (Givosiran) treatments 5 months ago. I’ve felt better in my day to day life; however, I have had two attacks requiring hemin since starting this treatment. Each monthly injection burns for one minute. Sometimes I am very nauseous after the injection. I develop a rash at each subcutaneous point where I get my shot, which is raised, red, and lasts for two months. I am in the process of getting a port for easier hemin administration since I am still having attacks.
I have changed my lifestyle to try to reduce attacks. I don’t drink any alcohol at all anymore. I have never smoked cigarettes or done any drugs. If I walk every day, eat healthier, and make sure I have a carbohydrate at each meal, I feel better and my liver and kidneys function better. I have Neuropathy every day since my first attack in 2018. I know when an attack is coming if I start to feel pain, insomnia, anxiety, and when my daily neuropathy increases.
Porphyria attacks completely debilitate me and affect my family who have to uproot their lives to help me when I need hemin. I am willing to try anything to reduce my attacks and am hoping Givlaari will help me feel better so I can take care of my children, ages 3 and 5. I am thankful that I have been able to take this drug which has lessened the amount of attacks.