Beth Pugliese has wished for death more than once.
In five-plus years of intense pain and multiple hospitalizations, the Walla Walla woman has sometimes found more comfort in the prospect of death rather than life.
That’s not easy to hear coming from a 47-year-old who easily flashes a warm smile.
Here’s what you need to know first: The potentially most powerful weapon to battle that deep despair just got yanked away. The one intervention that can restore quality of life was dangled like a carrot Beth can’t reach.
Beth’s killer is called porphyria (poor-FEAR-e-uh, because otherwise you’re going to trip on your tongue), and it’s evil manifested.
The very rare genetic disorder is many things, including a buildup of natural chemicals that produce porphyrins, which are needed for hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron and carries oxygen to your organs and tissue, according to Mayo Clinic, which adds “high levels of porphyrins can cause significant problems.”
Just ask Beth.
She and her siblings knew they were at risk. Their mother had some symptoms in her 30s, and testing revealed three of her four children had the genetic markers. That said, those who carry the genes rarely get onset of the disease. Within that subset, it is rarer still to have more than a single attack.
Beth bulletproofed as best she could. Ammunition against Big P includes a high-carb diet and avoiding alcohol, so that’s how she rolled. She enjoyed a healthy physicality, a loving husband, a job she likes and does well.
In 2011 Beth’s life shifted some. Her youngest child left for college, and then the empty nest’s sewer backed up, wreaking havoc for 10 weeks.
The topper may have been Beth’s decision to try a hospital cleanse diet — super low-carb — for a week. To improve her health, in the cruelest ironic twist ever.
It all made for abnormal stress, and stress is like heroin to Big P.
That first porphyria attack introduced Beth to the worst pain she’d ever known. It began more flu-like, with nausea and fatigue. Sleep was elusive, thanks to the dull throb in her tummy. Beth’s abdomen hurt so bad she couldn’t bear the weight of a seat belt on it.
After writhing in pain throughout the night, Beth was hospitalized; morphine was the only thing to quiet the agony.
Doctors at first didn’t consider porphyria. Even as Beth explained her family history, physicians struggled to believe what their healthy-looking patient was saying.
But it was indeed porphyria, a total jerk of a disorder. Beth has the “acute intermittent” version, the very last type anyone would pick if they had any say in it.
Since then it’s been round after round of pain, fevers, fried nerves — literally — tests, hospital stays, hallucinations, failed treatments and useless medications. Beth often can’t eat, and her vital stats regularly dive low.
In 2014, chest pain became Beth’s shadow and her legs thought about going numb, potentially signaling the paralysis that killed her aunt when it moved into the heart.
Porphyria likes to mix things up.
Big P also caused fluid buildup around Beth’s lungs and heart, making her feel as if she was being stabbed in the chest. She was airlifted to Spokane; doctors drew two cups of dark brown fluid off her chest. Follow-up steroids gave Beth gastroesophageal reflux disease, pancreatitis and an infection.
See what I mean? Big P is crazy nasty.
At times Beth’s condition stabilizes. She’s able to live life a little, including going to the insurance job she’s never relinquished. Regular work means having health insurance, of course.
But mostly Beth is a slave to the insanity. Over and over, she’s the one to educate providers in what is killing her.
Her best weapon is having nurses for sisters — and those sisters got really fed up with this war Beth’s in. Research showed them a liver transplant could be the answer — livers with Big P get bombarded by the illness and its treatments and try to quit.
Liver transplants have been successful in England and on the East Coast to improve lives wrecked by this disorder. Her sister began sending Beth’s medical records to specialists and begging for help.
Because not fixing it means Beth’s organs are going to finish shutting down, like they’ve been threatening to do.
After her health insurance provider denied Beth an opportunity to see a specialist on the East Coast, she got a response from a Seattle hospital. There, staff assured her, she’d be an excellent candidate for that transplant. The board of surgeons initially approved.
Good, right? Especially when death starts to look like Option A.
Then ... then those same surgeons said nope, no surgery for Beth.
“They said they don’t feel comfortable doing surgery on a candidate with porphyria, that they don’t know enough about it,” she said.
I could hear in her voice the enormous weight of defeat, as my own heart sank in sympathetic response.
Hang on, though. There is one Big P specialist in Seattle — in the whole state it seems — and she’s agreed to see Beth in April.
“She may be able to sway the board of surgeons,” Beth said. “Or she may take over my case.”
Which is a far better Option A. Ask for God’s hand and wish on a four-leafed clover. Whatever it takes.