A few months ago, 23-year-old Erica Schmidt was on the kidney-transplant list. She got off that list in the best possible way.
You’re probably thinking she got a kidney donor. Nope – her own kidney healed.
Erica has a rare genetic disease called atypical hemolytic uremic syndrome. AHUS sends the blood-complement system (which normally helps maintain immunity) into overdrive, producing way too many complement proteins. Cells along the blood vessel walls become damaged and platelets become overactive, causing clots that can lead to severe organ damage.
Patients can suffer heart attacks, strokes, blindness, kidney failure and death.
There are believed to be only 300 aHUS patients in the entire country, and most of them are children or young adults, according to the Foundation for Children with Atypical HUS.
In most respects, Erica was pretty lucky. Her doctors noticed clues in her lab work that led to a diagnosis within about six months. Even luckier, the FDA had just approved a drug to treat aHUS.
She started taking Soliris last February, and almost immediately was able to stop the near-daily plasma exchange treatment. By November, her kidneys had bounced back to about 70 percent of their former strength and she no longer needed dialysis.
Now Erica’s back to work full-time, teaching 3-year-olds at a preschool near her Royersford home. She has a new boyfriend and a new role in a Star Wars costuming society.
But getting back to “normal” wasn’t easy.
Erica was vacationing with her family at the Jersey Shore in July 2011 when she got sick with what they thought was the flu, or mono.
Her physician thought she was just dehydrated, and sent her to the hospital for fluids. Once there, tests showed she had a low red-blood-cell count.
“Your hemoglobin numbers should be 11 or 12, and Erica’s was at 5,” said Denise Schmidt, who has come to sound like a medical professional since her daughter’s illness. “They diagnosed her with TTP, which presents itself similar to what Erica has … and they treat it much the same way.”
Treatment included plasmapheresis (a process in which the blood’s plasma is purified or replaced) 2 hours a day, 4 days a week, and dialysis (which does the kidney’s job, cleaning toxins out of the blood) 4 hours a day, 3 days a week.
The treatments seemed to be working, and after a few weeks Erica felt well enough to return to work and act in the closing weekend of “The King and I” with her community theater group.
“So I was on stage, dancing and singing, and I went to the cast party afterward,” Erica said. Two days later she was sick again. “I ended up having to stay in the hospital for like 24 days.”
Erica’s kidneys were failing, and she was readmitted to Phoenixville Hospital.
“Hematologists, pulmonologists, infectious disease experts … and they all come in the morning, so by 10 o’clock she had seen like eight different specialists,” Denise recalled.
The doctors at Phoenixville tried a bunch of different medications and doses, searching for a mix that would treat her high blood pressure, her anemia and her kidney failure.
“When I was in the hospital, I felt sick but I didn’t feel like it was that bad … I thought, ‘I just need a really good nap and I’ll be fine,’ ” Erica said.
But as the weeks went on, “There was one point where I just really couldn’t get out of bed. I was just so weak.”
She would wake up for dialysis in the morning swollen with excess fluid, stretching her 100-pound frame to as much as 130 pounds. “Her eyelids were swollen, her hands, her feet. She looked like a different person,” Denise said.
Dialysis eased the swelling and cleaned out her system, but caused severe headaches and pain.
“It was horrible. It was like being hooked up to some creepy torture machine,” Erica said, recalling the hours she spent surrounded by elderly patients. Her mom wasn’t allowed in because the room had to remain sterile.
At that point, doctors said Erica was suffering from end-stage renal disease. They were still trying to figure out what was causing it, and pushing forward with plans for a kidney transplant.
“We were all upset,” said Dr. Pallavi Rastogi, the oncologist and hematologist who led Erica’s treatment team. “She was 22 at the time, and HUS in itself is a very traumatic disease. She was working, she had a life. Now all of a sudden her life was revolving around being in the hospital on a daily basis.”
But Erica and her family had reservations about the transplant. They had heard about HUS and its ultra-rare cousin, aHUS.
The doctors said to go ahead with the transplant while they waited for the results of the aHUS bloodwork, which could only be tested at the University of Iowa. “But that was in the back of my mind, like, ‘God forbid we get the transplant and she didn’t need it,’ ” Denise said.
They put up a Facebook page and got dozens friends and distant acquaintances volunteering to donate. A few days later, they got the test results and immediately started Erica on the new drug, Soliris.
Rastogi, who is now at Paoli Hospital, said the timing of the diagnosis was critical, because "kidney transplants often fail in 90% of patients with aHUS who are not on Soliris, because the disease is genetic and strikes the new kidney if the patient’s aHUS is not being treated." Before the treatment was approved, she said, more than half of all aHUS patients required dialysis, had permanent kidney damage or died within 1 year of diagnosis.
Soliris, which keeps the blood-complement system from going into overdrive, was approved in September 2011 through the FDA’s “orphan drug” program. For rare diseases like aHUS, it’s simply impossible to conduct widespread tests on new drugs; so the FDA allows accelerated approval for promising treatments.
“Ever since the Soliris, everything fell into place,” Denise said. “We really thought with the length of time she was on dialysis – the longer your kidneys have failed, the less likely they are to recover.”
But recover they did. In November, Erica stopped dialysis.
Dr. Rastogi was quite happy with the results. "The restoration of kidney function is absolutely remarkable, and very uncommon for patients with any kind of kidney disease," she said.
“I feel like I’m back to normal. Sometimes I don’t even remember that I’m sick,” Erica said. It’s only been like 3 or 4 months since I’ve been off dialysis. But sometimes it feels like 3 or 4 years. I know that I still am sick, and I have to be careful and everything. But I feel normal.”
Because aHUS is a chronic, genetic disease, Erica will need to continue treatment for the rest of her life. A nurse comes to her home every 14 days to administer the drug through an IV. She’ll always be at greater risk of meningitis and will have to be careful with her diet – lots of iron but not too much protein.
She also takes several medications to control her blood pressure, which remains high for a 23-year-old and will probably require attention for the rest of her life.
“Sometimes if it’s close to the time where I need to take my medicine, I feel my face get hot and my cheeks get red. It’s kind of a nice reminder, ‘Oh, it’s time to take my pills!’ “
Her kidneys did sustain some lasting damage, and a clot in her retinal artery caused a partial loss of vision in her left eye.
“There’s like a weird shadow that’s blocking the center of my line of vision. But when I have both of my eyes open, I see normal,” Erica said. “Thankfully I’m still able to see, and I can drive and everything.”
A couple days after she stopped dialysis, Erica went to a comic convention and met Richard Pymer, 24, of King of Prussia. They started dating soon after.
“I went to this comic convention, and I met him there. We’re both in the Star Wars Costuming Club, and he was a storm trooper,” Erica said.
The club, which is not officially linked to the George Lucas film franchise, does volunteer work for the Make-A-Wish Foundation and other charities.
“We’re not just a bunch of weirdos in costumes,” Erica joked. “We’re weirdoes in costumes with a cause!”
“I’m glad I can give back now,” she said. “Especially now, I know how awful it is being sick.”