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PITTSBURGH (KDKA) — Amyloidosis is a rare condition that used to almost always be fatal, but doctors are finally making progress in treating it.
“I had so many symptoms, and I really didn’t think they all connected,” Pam Rafferty said.
Rafferty had a thick tongue, leg swelling, frothy urine, carpal tunnel syndrome, and then…
“I started having heart palpitations,” Rafferty said.
She had atrial fibrillation, an abnormal heart rhythm. But her cardiologist noticed something else was abnormal — the rapidly increasing muscle thickness in her heart, a sign of a condition called amyloidosis. It’s rare — only 10 cases for every 1 million people.
“Their hearts become thickened over time, which leads to stiffening of the heart and heart failure,” Allegheny Health Network cardiologist Dr. Travis Wilson said.
A heart biopsy confirmed the diagnosis.
“I didn’t realize how serious it was, though. I knew Mayor Caligiuri had passed from it,” Rafferty said. “It really frightened me. I honestly thought that I only had a few months to live.”
Certain blood cells called plasma cells make the abnormal protein that gets deposited in tissues and organs. The symptoms are so variable because it depends on which tissues and organs are affected.
Pam was referred to a cancer and blood doctor for her subtype of the disease, called light chain amyloidosis.
“A couple of years ago, it was, amyloidosis was a pretty dismal prognosis with poor survival,” Allegheny Health Network hematologist-oncologist Dr. Santhosh Sadashiv said.
Newer drugs have a response rate of 60 to 70 percent.
“Previously we had to wait for at least six to seven months to say even they’re responding, but now we can tell them within a month or two,” Sadashiv said.
Pam was started on chemotherapy to target the plasma cells and stop the amyloid production.
She also qualified for a clinical trial. She was the only one from Pittsburgh and took part for 26 months. She thought she was improving slightly, but the study was stopped because it was showing no benefit overall.
So she continued just with weekly chemotherapy for two years and is happy with the results.
“I went into remission,” Rafferty said.
But damage has already been done.
“The organs that are already affected, we cannot turn back,” Sadashiv said.
She gets weekly bloodwork, and if her protein levels start to go up again, she has another option. She banked her stem cells and will get a bone marrow transplant if she relapses — the most definitive treatment for the disease.
“For the most part, I’m really getting back to normal it feels,” Rafferty said.
Pam has high hopes for the future.
“Just to be around to see grandchildren someday,” Rafferty said. “They’re making advancements with things and, you know, hopefully there’ll be new treatments, and a cure.”