Annmarie Little was 15 months old when her parents realized she had a problem. They were tickling her belly when her mom, then a nurse's aide, noticed that her spleen was enlarged. They took her to Children's Hospital Boston, and today, more than 30 years later, she's still a patient here.
Annmarie was diagnosed with beta thalassemia major, a serious genetic disease that affects the production of hemoglobin, a protein that carries oxygen throughout the body. The illness can create a wide range of medical complications. As one of only five centers in the country designated for clinical excellence in thalassemia, Children's offers a full array of multidisciplinary medical experts in the disease.
Transfusions and Chelation
Since her diagnosis, Annmarie has required blood transfusions every four weeks. The transfusions are essential, but they cause iron to build up in her body. Chelation, a treatment to remove the extra iron, is necessary to prevent the significant complications that can result from iron overload. Chelation therapy is administered through a pump attached to a needle placed under the skin. The process is performed for ten hours five nights a week.
Today Annmarie is in good health and has suffered few of the complications typically seen in thalassemia patients. She attributes this to regular chelation. "Compliance was not an issue for me, my parents understood the consequences so they were very strict," she says. Still, she developed diabetes at age 12, a side effect of thalassemia. She is followed by a number of physicians at Children's to monitor for signs of other complications. A life-long resident of Stoughton, Mass., Annmarie has a sister who is a year younger who also has thalassemia, another sister who inherited thalassemia trait, a very mild and common form of the illness, and a fourth sister who has no thalassemia genes.
Marriage and Family
In 1995, Annmarie married her husband, Dave. "He knew of my circumstances, and that I might not be able to have children. It wasn't an issue for him," she says. But it was an issue for her. "I've always known that I wanted kids and I've always loved babies," she says. Soon she was working with her physicians to make sure she was healthy enough to become pregnant. "I understood that it was a rarity for a woman with thalassemia major to have a child," she says. "I'm very cautious. I had all the testing - a liver biopsy, tests of cardiac function, and others. When the results came back normal, I was reassured that it was the right time to pursue my dream," she adds.
In fact, it has been extremely rare for women with her form of thalassemia to have children, but today it is becoming a reality for more and more. This is partly due to improvements in understanding of the disease made in the last decade or two that have resulted in better management of the illness. Still, Annmarie's health is a testament to the benefit of careful control of thalassemia and its related conditions.
Several months after beginning treatment at the infertility program at Brigham and Women's Hospital, Annmarie became pregnant. Normally very careful about her health, during her pregnancy she was even more scrupulous. "I faithfully checked my blood sugar six times a day, and my obstetrician/gyncecologist specialized in caring for women with diabetes," she says. Because she could not chelate while pregnant, her iron levels were also closely monitored, and the frequency of blood transfusions was increased as the pregnancy progressed. A day care center teacher, Annmarie continued to work until the month before her daughter, Olivia, was born. Now 4 ½ years old, "She's sweet, wonderful, happy, energetic, and funny," mom says.
|
