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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Akiko Shimamura
Bone Marrow Failure and Myelodysplastic Syndrome Program | MD, PhD | Boston, USA
Dr. Shimamura directs the Bone Marrow Failure and Myelodysplastic Syndrome Program of the Dana Farber/Boston Children’s Cancer and Blood Disorders Center. Her research focuses on translational studies spanning clinical through basic science investigations to understand the genetic and molecular basis of bone marrow failure, MDS, and leukemia predisposition with the goal of developing more effective and less toxic treatments. Dr. Shimamura had previously directed the Bone Marrow Failure Clinic at Boston Children’s Hospital and then at Seattle Children’s Hospital before returning to Boston Children’s Hospital in the fall of 2015.
Dr. Shimamura has mentored numerous students and post-doctoral fellows who have moved on to careers in academics, medicine, or the biotechnology industry.
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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.
By Cecilia Córdoba, mother of Agustina Milagros Kaucic When my daughter Agustina was 2 and a half years old, our lives changed forever. It was very difficult to reach a diagnosis. And when we finally received it, it was devastating....