On September 11, 2001, Heather McKinstry was 16 years old and in excruciating pain.
The United States had just suffered the deadliest terrorist attack in the country’s history, and McKinstry was yelling at her mother for attention – not because she being heartless or selfish or ignorant, but because she was suffering from the symptoms of Porphyria and had yet to be diagnosed.
“I was literally losing touch with reality. I had no idea of the severity of the situation,” McKinstry explained. “I was like, ‘Mom – I’m literally dying and you’re freaking out about something that happened on TV. What is wrong with you?’ That’s the best way to put [the pain] into perspective; 9/11 had just happened, and I was yelling at my mom to turn the TV off.”
A week prior, McKinstry stayed home from school under the assumption that she had the flu. After a day’s worth of vomiting, her mother brought her to the emergency room. Doctors argued that she had had appendicitis or gastroenteritis. Tests were run and each of them came back negative. Her mother had a thought.
“[Doctors] couldn’t figure out what was wrong with me,” she explained, “and, at that point, my mom was like ‘Oh, well, we have this family history of porphyria. Can you test her for that?’”
Family History Wasn’t Enough for Diagnosis
McKinstry’s maternal grandmother was a porphyria patient in the 1960’s, but was never properly identified. The disease was found out after exploratory surgery to find the basis of her pain, and she passed away as a result of being prescribed incorrect medication. After seeking a second opinion, McKinstry was diagnosed on the third day of her 11th
grade year. She was a student at a trade school for nursing, where she hoped to graduate with her LPN so she could work as a nurse while in college.
After her initial diagnosis, McKinstry incorrectly assumed her life would go back to normal. The first 2 years after she learned she was a porphyria patient, she averaged one hospital visit each month. Some were lengthier than others, and the longest spanned six weeks. She almost had to drop out of the LPN program because she was falling so far behind at school.
Her teachers were understanding, and allowed for her to complete the work on her own time. Her reputation as a good student superseded her illness. Unfortunately, her siblings, in their younger years, weren’t as sympathetic to her condition.
“I have 4 brothers and 3 sisters, and I pretty much took all of their attention. My parents were constantly taking me to the hospital. It was extremely difficult on on my siblings, and I’m sure they resented me for it,” she said. “I don’t know if I was viewed as the favorite child because I had to be taken care of so much, but it was definitely difficult on them.”
Dramatic Weight Loss
The frequency and severity of her attacks and hospital visits took a dramatic effect on McKinstry’s health, but also her appearance.
“I was a pretty healthy weight as a kid – I wasn’t overweight or underweight – but because I was having so many attacks so frequently and because they were so severe, I wasn’t able to eat for weeks at a time, she said. “During the 6-week attack, I had to be sustained by artificial means. I had lost so much weight that I was literally skin and bones.”
“I had some of my closest friends say ‘I’m afraid to hug you. I don’t want to break you.’”
Five port surgeries and 2 years later, McKinstry started receiving weekly transfusions of Panhematin. While it helped sustain the number of hospitalized attacks she was having, it didn’t eliminate them. Her health steadily declined to the point where she no longer had any “good days” of the week. Constant pain, weakness and nausea resulted in her doctors recommending a liver transplant.
Initially, transplant teams wouldn’t take her case because of how rare porphyria is – they didn’t feel comfortable conducting the operation. After that, she was transferred to a larger hospital only to find that her insurance company would deny any request for a transplant – porphyria wasn’t recognized as a disease where a liver transplant was recommended.
On October 31, 2015, after only 30 days on the transplant registry, McKinstry got a break when a child with the same blood type also in need of a liver transplant did not require the entire liver. McKinstry was given the remains.
“So, if the child did not get the liver transplant, I would not have gotten the transplant,” she said. “Because the child got it and was the same blood type and was healthy enough, and everything went fine, I got it, too. I was extremely lucky in that way.”
Slow, but Successful Recovery
As for the surgery itself, it was no easy road for McKinstry. She had complications, both during surgery and in the 6 months that followed. Directly after the surgery, her lungs refused to function properly, and she had to be put on a breathing mask. She ended up bleeding internally, too. During the surgery, the liver had been cut and it wasn’t caught by doctors. She needed two pints of blood and to have an additional drain put in.
All the while, because she was used to managing her pain with morphine prescriptions, her levels of pain were nearly impossible to manage.
It took a full calendar year for McKinstry to be free of most porphyria symptoms; the 2 most notable being her now-normal-colored urine and her ability to think clearly. She still has slight sensitivity to lights, smells and sounds, and she sometimes feels a slight burning sensation on her skin, but other than that, her issues have ceased.
Still, though, it’s hard for her to recommend a liver transplant for porphyria patients.
“My life was a challenge, and my quality of life was really, really poor,” McKinstry said. “It was something I really struggled with. A liver transplant, to me, is a very extreme option. Going through everything that I went through, and then also going through the transplant – Like, it’s very difficult to live through porphyria, but it’s even more difficult to get a transplant and to live through that, as well.”
A Fight for Better Porphyria Treatment Options
“I just want to focus on better treatment. It’s very difficult for me to recommend a liver transplant to people. At the same time, I know how hopeless one person can feel dealing with porphyria every day.”
McKinstry spends her time now finding new ways to involve herself in patient advocacy. She speaks at conferences and makes sure that when people ask her about her scars that she shares her story with them.
For more information about porphyria, including educational materials, clinical trials, and other information about current programs, visit www.porphyriafoundation.com
and Alnylam Pharmaceutical’s Patient Connect
Porphyria refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are vital for the role of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissue. High levels of porphyrins can cause significant problems.
Treatment of the disease depends on the type of porphyria had. Although porphyria usually can't be cured, certain lifestyle changes may assist in managing it.