Meet Katherine, VP warrior
"In 2020, I started having trouble in the sun. My face would swell, I’d burn, and I had always been the copper-tone kid."
-Katherine, VP patient.
In 2020, I started having trouble in the sun. My face would swell, I’d burn. I had always been the copper-tone kid: I never wore sunblock, never burned, and then all of a sudden, BAM! I’d burn going outside, I’d burn through the windows, my eyes were sensitive to the light.
And let’s not forget the pains that started occurring in my stomach. I’m talking pain!! To the point of begging to go to the hospital. I would be in the fetal position crying, feeling like a child.
After several trips to the ER with the same symptoms, they began to believe that I was drug-seeking and would send me home without working me up or doing any tests. They continued sending back me to my primary physician.
“The stomach pains became terrible. Back to the ER for the fourth trip in a year.”
Katherine, VP patient.
The third time I went to my primary doctor, she started to send me to specialists. My first stop was the gastrointestinal doctor. I was given an upper and lower endoscopy, where they found absolutely nothing.
It was back to the primary doctor for trip number four.
She then said, “I’d like you to see neurology.” I made an appointment—six months out, of course. When I finally got to the appointment they did an EEG, seizure testing, and an MRI. The only thing they found was that I had more white matter in my head than I should for my age.
So it was back to the primary for trip five in a year!
Next is was cardiology. Again, three months out for an appointment. The cardiologist worked me up with a nuclear stress test and then did an echocardiogram. She found nothing wrong with my heart, only that my blood pressure was high, and she wanted my primary to write a prescription for something that would help with the blood pressure.
So, trip number six to the primary. She wrote me a prescription for the blood pressure and then decided I should see my gynecologist.
The whole time, with all of this back and forth to the doctors, I had been telling my friend Sandra, who is an internist, everything they were making me do and the places they were making me go.
I made the appointment with my gynecologist and saw her. She found nothing wrong except that I had a cyst on my right ovary, but that should not have been causing the pain I described to her.
Katherine at Porphyria Palooza, UPA’s porphyria community event.
The stomach pains became terrible. Back to the ER for the fourth trip in a year. This time, they kept me and treated me for pain, but just the pain. I stayed for two weeks and they didn’t find anything wrong.
I was released and headed back to my primary for trip number seven.
This time, she told me to see a psychiatrist because sometimes pain can be manifested.
I called my friend Sandra and told her what the primary had suggested now. She called me back later that same night and told me she would see me for this one medical condition and help me get a diagnosis, but then I must return to my original doctor.
I agreed, and I saw Sandra at her office a week later. She started with a long list of blood tests and sent me for an MRI, CT scan, and X-ray. Everything came back okay.
Sandra made a plan that the next time I had the stomach pains. She wanted me to go to a specialty lab that was about 45 minutes away from my home.
It wasn’t long before the stomach pains returned.
I went straight to the lab. Sandra called the lab and stayed on the phone with them for more than an hour to ensure they would get the right tests and that they were done correctly.
Finally I received a test result that she could use to give me a diagnosis!
She said I had porphyria. The test found high PBG levels.
From there, Sandra ordered a genetic test for me so they could determine which porphyria I had. It came back that I had Variegate Porphyria.
Sandra then explained what this was and why it caused so much pain.
Katherine with friends.
The next time I had the pain, I went to the hospital. Sandra begged them to keep me so that I could get Panhematin for my very first treatment. They did keep me for three weeks, as it took one week for the hospital to obtain the medication and another week to get a PICC line because my veins were way too small to be able to infuse the medication without them blowing and swelling.
After the four days of treatment, I was kept another week to make sure I had no reaction to the medication and that my pain had subsided.
Soon after, I found a hematologist near my home who recommended that I have an exploratory laparoscopic procedure. However, Sandra felt I did not need it and stopped the surgery.
I’ve had major setbacks because of porphyria, and it has taken me two or three years to be able to deal with the fact that I can no longer be in the sun. I’ve tried everything I could just to go in the sun, and the sun would always win.
“I had to learn that I have this disease because I’m keeping someone else from having to deal with it”
Currently I have treatment every three weeks with Panhematin. I used to receive Givlaari, but it was not something that worked for me—it made me pass out.
At first I was completely angry with the world because this diagnosis. I even stopped going to church because I was angry and felt like I was being punished.
I’ve had to learn that by having this disease, I can keep someone else from having to deal with it. Through research and studies, I hope that in the future, no one will have to deal with porphyria.
Katherine in a UPA event.
Katherine’s story with VP.
Want to share your story? Contact us at katri@porphyria.org
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