Emily Berry Hoak lives one active life. A former professional tour guide for Colonial Williamsburg, with nearly 30 years of service to her credit, she is used to being on her feet for hours at a time. Daily 1- to 2-mile walks and frequent trips to the pool for 40-minute swims are just part of her regular routine, as are lively and cherished outings with family and friends.
One day in 2012, however, something tried to put the brakes on Emily’s busy lifestyle: aplastic anemia, a form of bone marrow failure. This rare disorder prevents the bone marrow — the spongy tissue inside the bones — from making enough red blood cells, which carry oxygen to the different parts of the body; white blood cells, which play a critical role in the immune system; and platelets, which promote healthy blood clotting.
Aplastic anemia can be fatal if not treated properly. Patients with the disease often feel weak and fatigued and have a greater susceptibility to infection and bleeding.
As in Emily’s case, doctors often cannot pinpoint a cause. Sometimes aplastic anemia is triggered by the drugs a patient is taking for a different disease. It could also be hereditary, or simply have no apparent origin. Emily first found out her blood cell counts were abnormally low when she was being treated for rheumatoid arthritis.
“My doctor told me I needed to see a hematologist right away,” recalled Emily. Having grown up near Johns Hopkins University in Baltimore, she immediately sought help at this medical research facility.
She and her husband Dale made several trips to Johns Hopkins, only to be told by the physicians that because of her age and other factors, she was not eligible for a bone marrow transplant. They recommended she instead undergo standard immunosuppression therapy. The hope: that the treatment would allow the stem cells in her bone marrow to grow and produce normal blood cell levels.
“It was a weeklong, painful procedure, and unfortunately, it didn’t work,” Emily said. “My blood cell counts continued to drop.” Making things worse: she was instructed to avoid people as much as possible — doctors did not want her in contact with others due to her weakened immune system. She typically enjoyed time with her grandchildren and, as a former tour guide, was used to a lot of interaction with people.
To prevent her cell counts from becoming dangerously low and to improve her energy levels, Emily endured blood transfusions every three to four weeks, with each session lasting about six hours. The transfusions in turn caused her iron levels to become overloaded, necessitating yet another treatment to prevent damage to her organs.
All through her ordeal, Emily had been reading everything she could about aplastic anemia. Her doctors at Johns Hopkins pointed her to various research studies. One in particular piqued her interest — a National Heart, Lung, and Blood Institute (NHLBI) study on a drug called eltrombopag, which investigators hypothesized could stimulate stem cells in the bone marrow to make red cells, white cells, and platelets again.
Emily wrote to the NHLBI, a part of the National Institutes of Health (NIH), asking if she could be a part of the trial. She learned that to be eligible, she first needed to be a “nonresponder” to the immunosuppression therapy. She qualified.
The eltrombopag study required her to take a pill once a day. Unfortunately, at the end of the three-month study period, she did not have a clinically meaningful response to the drug. She was, once again, a “nonresponder” and was required by study rules to withdraw. Meanwhile, the transfusions continued. The support of family and friends, efforts to maintain her daily walks, and music helped to keep up her spirits.
Emily pursued research about aplastic anemia and learned of another NHLBI eltrombopag study lasting twice as long as the previous one. Once again, she asked to participate and ultimately was accepted.
Within six to eight weeks of being in the new trial, Emily got the promising news she had been waiting years to hear: her doctors found that her blood cell counts were not falling as fast as they used to. She would go on to experience substantially improved bone marrow function and cell counts while on eltrombopag.
In April 2015, three years after she was first diagnosed, Emily underwent her 40th and last transfusion. By August, she was strong and healthy enough to take her granddaughter to England and climb the 150 steps of Arundel Castle with no problems.
“Dale and I are thrilled that we can once again travel without worry,” Emily said. “I encourage all patients to be their best advocates, to ask questions, and to learn as much about their disease as possible — as well as about clinical trials being conducted at the National Institutes of Health.”
Clinical trials are a key research tool for advancing medical knowledge and patient care. The NIH is committed to ensuring that women are well represented in clinical trials. Find out more about clinical trials: www.nhlbi.nih.gov/studies/clinicaltrials.