Barbara Davis Goldman chokes on her words when she recalls learning from her doctor in 2003 that she had AL amyloidosis.
“I said I’m not going to freak out about this or whatever, and I didn’t,” she said. “But I did look at it online, and the prognosis was really bad at that point, with 15 months being the median survival and all the challenges with getting diagnosed and then getting treated.”
The Hillsborough resident was one of the lucky ones. She had chemotherapy that decimated her immune system, and battled with her insurance provider to get a stem cell transplant. Recovery was a slow process of hair loss, nausea, diarrhea, dialysis, preventative vaccinations, and heavy medication.
Goldman learned to lean on her husband Jerome, daughter Rebecca Block and her sisters. They took turns taking care of her and posting updates for family and friends online. She remembers thinking she didn’t have time to be that tired, Goldman said, and she knows it had to be scary and hard on her family.
She’s still tested every six months, but Goldman, 70, is in remission and working with children again at the Frank Porter Graham Child Development Center. She’s amazed at the progress being made against amyloidosis, including a new global drug trial involving UNC researchers.
“Things have changed a whole lot since then in terms of the kind of information that’s out there for people if they know where to look, the different kinds of therapies,” she said. “The only thing that hasn’t changed a whole lot is that it’s still really hard for people to get a diagnosis, because it’s such a challenging disease.”
Amyloidosis assumes multiple rare, potentially life-threatening forms, affecting about 50,000 people a year worldwide. The most common form – light-chain (AL) amyloidosis – affects about 13,000 patients.
It starts when immune system cells in bone marrow produce amyloid proteins the body can’t break down. The proteins clog the heart and other vital organs, causing damage or failure. Men ages 50 to 80 are the primary targets, but also women and people as young as their late 20s. Symptoms range from fatigue to bruising, swelling and numbness, mimicking many other diseases.
That’s part of why patients can grow very sick before diagnosis, said Sascha Tuchman, UNC’s director of the Multiple Myeloma and Amyloidosis Program.
Diagnosis is usually followed by chemotherapy to stop the production of proteins, but there is no cure. Some patients, such as Goldman, undergo chemotherapy and a stem cell transplant that can be more effective but cause additional side effects.
“Basically, we have these sick immune cells – sick plasma cells – in the bone marrow that are the source of the trouble,” Tuchman said. “We use different chemotherapy drugs to kill them, and when that happens, we don’t cure the condition, but we kill off a whole bunch of those bad cells ... that bad protein that’s in the blood, and we keep our fingers crossed and pray that those organs that are beaten are going to heal.”
The hope is that a new drug from Prothena called NEOD001 will help patients live longer and feel better, he said. UNC is recruiting patients with heart-related amyloidosis now for VITAL, a Phase 3 trial. The next step could be Federal Drug Administration approval.
PRONTO, a separate study at Duke University and other centers, targets amyloidosis patients who already had chemotherapy.
“This (drug) is like the laser that points on a target, and the bomb (immune system) knows where to go,” Tuchman said.
“With this being extremely rare, a lot of times when people are diagnosed in the community, their doctor’s never seen it before,” he said. “Patients come here because they want to come to a place where we do a lot of this, and then also because we have clinical trials looking at the new drugs like this, which are not commercially available.”
The amyloids are still in her body, but Goldman said she no longer looks sick. She recently traveled to Atlanta for a birthday party with her daughter and grandchildren. They have a third grandchild on the way, she said.
She wants to learn more about NEOD and maybe join the UNC drug trial, she said.
“It’s a whole new world, and I really am outdated, or my experience is, which is a good thing,” Goldman said.