Susan Evans knew something was wrong. She had always been active — volunteering in the community, teaching and providing spiritual direction, hiking, and doing yard work. So why was she struggling with energy? Why could she no longer keep up with household chores? And why would it take so long to recover after playing with her grandkids?

Sue described her symptoms to her Mayo Clinic primary care doctor, Elaine B. York, M.D., who immediately began a series of tests, looking for the cause.

"I had doctors who would take time to listen to me," Sue says. "I know that isn't always the case, especially for women with vague symptoms like being tired all the time. They believed me when I said I knew my body and knew something was wrong."

Sue met with endocrinologists, pulmonologists, cardiologists and more. No one could find the answer. A year or more into her medical odyssey, her symptoms worsened with classic cardiac symptoms — shortness of breath, shoulder pain and jaw pain — but testing revealed nothing. She also kept developing urinary tract infections. Around the time of the fourth infection, she met with endocrinologist John M. Miles, M.D.

Dr. Miles suspected nephritic syndrome and sent her to specialists, who ordered a kidney biopsy. However, Sue had problems with excessive bleeding in the past. So before the biopsy, she had bloodwork to measure her bleeding tendency.

That test showed evidence of the rare blood disease amyloidosis.

The mimicking disease

Amyloid is a blood protein that is normally broken down in the body. However, in patients with amyloidosis, these proteins accumulate to toxic levels. It's difficult to diagnose for two reasons: One, it's incredibly rare — less than 0.0001 percent of Americans are diagnosed each year. Two, it can mimic a host of other diseases. For instance, if amyloid collects in the heart, it mimics heart disease. If it collects in the brain, the patient displays symptoms of brain disorders. For Sue, it collected in her kidney, causing her urinary infections and fatigue.

"It can affect the skin, the bowel, lung, nerve, heart, tongue, eye — anything," says Morie A. Gertz, M.D., chair of the Department of Internal Medicine at Mayo Clinic in Rochester, Minnesota. "At other institutions, many doctors have never seen amyloidosis before, and it's very hard to diagnose something you've never seen in your career. But at Mayo, we're very good at it because of our multispecialty approach. There are cardiologists, hematologists and endocrinologists who are sensitive to amyloidosis and it's on their page."

Luckily, Sue was a patient at Mayo Clinic, where doctors diagnose about 200 cases per year, making it one of the premier amyloidosis diagnostic centers in the world. Sue's amyloidosis was caught early.

Seeds of life

Less than 20 years ago, amyloidosis was uniformly fatal. Doctors knew of nothing to stop bone marrow from producing the protein. Then researchers had an idea — why not replace the bone marrow? They noticed that amyloid production mimicked some blood cancers, which doctors had been treating with bone marrow transplants for a couple of decades.

"Bone marrow is where the blood is produced," explains Dr. Gertz, who is the Roland Seidler, Jr., Professor of the Art of Medicine in Honor of Michael D. Brennan, M.D. "It's basically a garden that produces normal blood. But with amyloidosis, the garden has some weeds in it. In the form of chemotherapy, we apply weedkiller that kills the weeds but also destroys the garden. You can't live without the garden. So we collect seeds — stem cells — and freeze them. So once the weeds are killed, we reseed the garden with the stem cells, which no longer produce the amyloid substance."

Because it's these seeds — the stem cells — that are the active agents, doctors today usually call the treatment a stem cell transplant. In 1996, 10 years before he diagnosed Sue, Dr. Gertz and Mayo Clinic opened a clinical trial to refine the technique to treat amyloidosis and set safety standards.

When Sue received her lifesaving stem cell transplant, more than 40 percent of the recipients in the original clinical trial were still alive.

Growing the new garden

A stem cell transplant is an option of last resort. For many, the treatment's immediate effects feel worse than the disease itself. It can take years to recover.

To ensure patients have the support they need, Mayo Clinic requires that everyone who goes through the process have a caregiver, such as a friend or family member. Sue had Annie Kramer, who had been helping with household chores as Sue's health declined.

In the six weeks between Sue's diagnosis and the transplant, Annie and Sue learned everything they could about the process. They trained with other patients going through the treatment, which comforted Sue because she saw she wasn't the only one. She also saw how much experience the Mayo Clinic care team had with stem cells transplants.

"Everyone was so confident," Sue says. "They told me at one point that nothing should go wrong with the transplant, but if it did, they knew what to do and I'd be in intensive care immediately. That was very reassuring."

The process of harvesting the stem cells, applying chemotherapy to kill the remaining marrow and reintroducing the stem cells all went smoothly. But then four days after the transplant, diarrhea set in, and Sue's potassium levels crashed. She couldn't maintain a normal blood pressure and was running a fever.

Soon she was in the hospital, where she stayed 21 days.

When she got home, her immune system was severely compromised, which is normal for people who've had stem cell transplants. Sterile conditions needed to be maintained at home, and she had few visitors. As she had been trained, Annie supervised her diet, which, for the first 100 days, was mainly canned or frozen food to reduce the risk of infection. Profound exhaustion was a daily reality.

"For two years, I didn't do much that involved mingling with crowds," Sue says. "We were very cautious. It's hard to get out of that mindset that the world is going to hurt you."

It took nearly five years before Sue had normal energy levels.

'An incredible miracle'

Before Sue's treatment, amyloidosis had nearly destroyed her kidney, wearing holes right through it. Physicians said it was likely she'd eventually need dialysis or even a transplant. But then a remarkable thing happened.

During follow-up visits to Dr. Gertz over following five years the transplant, Sue learned that her kidney had completely regenerated. There was no sign of damage.

"I think it's an incredible miracle that the stem cells are put into your body and they know what to do," Sue says. "They are able to go where you need them, to restore whatever is needed, like my bone marrow and my blood."

Dr. Gertz gave her another good piece of news. When Sue asked how the people who received the transplant 15 years earlier were faring, he replied with a smile, "They're alive."

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