Saving Henry Read Online Free PDF Page A

and not a carrier; and a 50 percent chance that the baby would be healthy, but a carrier like us. In other words, Allen and I were unknowingly playing Russian roulette with our children’s lives.
    There are at least thirteen FA genes or complementation groups. FA-A, FA-C (Henry’s type), and FA-G account for nearly 85 percentof all cases. The disease occurs equally in males and females, and is found in all ethnic groups, although the percentage of Jews who have FA is higher than the percentage of Jews in the general population, making it a disproportionately Jewish disease. The median age for the onset of bone-marrow failure is seven, and the average life expectancy is twenty-two years, but the actual life span of any one individual can be quite different from the average. Kids like Henry with FA-C tend to have the most severe birth defects and earlier onset of bone-marrow failure. They also have the poorest bone-marrow-transplant survival rates—or the highest death rate—following a transplant.
    Henry’s geneticist first suspected FA because of Henry’s relatively low birth weight, extra thumb, and heart defect, which were not a coincidence. However, we learned that doctors usually fail to diagnose FA at birth, since few of them have experience with the disease, and also because there are a multitude of possible birth defects, it presents differently in different kids. Even identical twins born with FA can have differing birth defects. Some babies are missing thumbs or kidneys, have malformed digestive tracts, or have hearing loss. Some have no birth defects at all. The majority of children are diagnosed only after a series of infections or nosebleeds lead to a blood test that reveals aplastic anemia or bone-marrow failure.
    Aplastic anemia, a condition in which the bone marrow does not produce enough red cells, white cells, or platelets, almost always develops in children with FA. It compromises the body’s ability to fight infection, causes spontaneous bleeding and exhaustion, and ultimately leads to death. The most successful treatment for aplastic anemia is a hematopoietic stem-cell transplant with blood stem cells derived from the bone marrow—commonly referred to as a bone-marrow transplant.
    Although successful stem-cell transplants can cure aplastic anemia, Fanconi patients also have a much higher risk of other cancers—such as acute myeloid leukemia, squamous cell carcinoma of the head and neck, and cervical and liver cancer—than the general population. So patients who are lucky enough to survive a stem-cell transplant, while unlikely to develop leukemia, are likely to face a subsequent diagnosis of one cancer or another, and must endure the medical challenges again and again.
    Among the doctor’s referrals was an organization, the Fanconi Anemia Research Fund (FARF), founded by Lynn and Dave Frohnmayer—parents of five children, three of whom were born with FA—who had since devoted their lives to raising money and funding research. FARF also provides much-needed information and support to families who, like ours, unwittingly joined a club of which no one would choose to be a member. From our first conversation, Lynn and Dave provided us with comfort that we were not alone in our fight to save Henry. They also gave us an abundance of information about Fanconi anemia, and their friendship.
    When we got the news about FA in early November 1995, my sister, Abby, had a one-week-old daughter, Rachel, and an eighteen-month-old son, Michael; my brother, Andrew, and his wife were expecting their first baby in five months; and Allen’s sister, Jennifer, had a one-year-old, Hannah. No one knew who was and wasn’t a carrier or who might already or soon have a child with a deadly disease. They visited geneticists and hugged their kids a little tighter as they anxiously awaited the test results. In every case, our family members were eventually told that they were