When I was 20 weeks pregnant, my doctor recommended an amniocentesis so we could find out what was causing concerns during my pregnancy. They took amniotic fluid for testing, and that's when my husband and I learned our daughter had a rare genetic disorder called Fanconi anemia (FA). We found out that we were both carriers, something we had never known.
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Blanche P. Alter
Senior Clinician | MD, MPH | Bethesda, MD
Dr. Alter developed an interdisciplinary clinical research program, conducting systematic investigations of cancer in the inherited bone marrow failure syndromes (http://marrowfailure.cancer.gov/). The prototype disorder for this program is Fanconi anemia, in which there is a large excess of unusual cancers that occur at atypically early ages, including myelodysplastic syndrome, acute myeloid leukemia, and cancers of the oral cavity and oropharynx, esophagus, cervix and vulva, and liver.
This project involves active, protocol-driven clinical research. Investigations include surveys to determine the incidence and characteristics of cancer in each of the syndromes; case-control studies to identify additional risk factors and perhaps new cancer pathways; genotype/phenotype correlations with reference to cancer susceptibility; heterozygote surveys with regard to the possible relation between the carrier state and cancer; and biologic studies of the tumors to determine their resemblance to their counterparts in the general population. The patients who have these syndromes comprise a group at high risk of cancer which may be suitable for studies of cancer screening and prevention modalities.
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The Family Retreat offers families a break from appointments, treatment decisions and everyday responsibilities. Children can try new activities and grow in confidence while caregivers learn, share practical support and connect with one another. The relationships formed at camp often continue long after everyone goes home.
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