Margarita Soto: A life with PNH
Margarita Soto had her first blood transfusion to treat her anemia at the age of 16, when she was pregnant with her second child in Puerto Rico. She began to notice her urine was dark soon after, and by the age of 18, in the worst of her hemolytic episodes, pain and exhaustion from her anemia kept her from walking up stairs, let alone playing volleyball or basketball with other kids her age.
COURTESY OF DR. BOB SIEGEL
She moved to Springfield, Massachusetts, then Hartford, Connecticut, to stay with relatives there and seek better medical care. But the steroid treatments she was given did little for her. In 1999, she found hematologist Bob Siegel when her usual hematologist made her wait two days for an appointment and she "decided to cross the street and pick someone new." Siegel remembered the words of a mentor who had challenged him to find a case of paroxysmal nocturnal hematuria (PNH). "But having found it, I felt terribly inadequate in my ability to do anything at the time," he says.
Soto tried to hold jobs at several auto parts stores, but the longest she lasted was eight months. After struggling to care for herself and her now three children, she was able to get disability payments. Soto would often get tired and dizzy, and would suffer from migraine headaches that would land her in the hospital. She had to have blood transfusions up to three times a month.
In February of last year, Siegel came across a study [P. Hillmen et al., "Effect of Eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria," N Engl J Med, 350:552-9, 2004] that reported preliminary data on eculizumab's Phase Ib trial. Impressed, he called Alexion and became an investigator in their next, double-blinded trial (TRIUMPH) so that he could enroll his single PNH patient.
When Siegel told her about the trial, "I started crying," Soto remembers. And for six months, she stayed on what she quickly realized was the placebo treatment because she still needed transfusions. "I know you're giving me that water stuff," she remembers telling her nurses. But, she used to say, "I've been waiting almost 16 years, do you think I'll mind waiting another year? ...Sooner or later I was going to get the real stuff." And that she did, in September of 2005.
The day after her first eculizumab treatment, Soto had "awful migraine headaches" and a low grade fever. She was rushed into the hospital to rule out meningitis, the most serious known side effect of the drug. She had been vaccinated prior to the trial, however, and the scare was unfounded. Within the week, her migraines disappeared, she regained stamina, her urine was back to normal, and she no longer needed transfusions. "I was so happy when I [could] finish my laundry," she says.
Every other Tuesday at 10 am, Soto goes in to Hartford Hospital for her 30-minute eculizumab treatment and stays a few hours to sleep off the medication so that she can drive home to her kids, who used to miss her for up to days following transfusions. With her renewed energy, she hopes to start working again this September. In the meantime, she looks forward to cheering for her youngest son, 11-year-old Richard, at his baseball games, and spending time with her first granddaughter, Cheila.
"As an oncologist and hematologist, I've seen many many drugs," says Siegel. But "I've never seen one that has so clearly and unequivocally improved someone's quality of life and changed the course of her disease."