Bloom syndrome

Following diagnosis, it is recommended that the child be evaluated for gastroesophageal reflux, diabetes through a fasting blood glucose level, levels of antibodies in the plasma, and a medical genetics consultation. If Bloom syndrome is diagnosed in adulthood, a colonoscopy is recommended to look for colon cancer and a test to look for blood in their stool.

Consulting with a genetics professional can help you make sure you are getting screened for all the complications that can be associated with Bloom syndrome. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Management of people with Bloom syndrome includes surveillance for cancer beginning at a very young age. Ear infections and pneumonia respond well to antibiotics and treatment and control of the gastroesophageal reflux can decrease their frequency. Diabetes can be treated normally as can cancer. However, radiation and DNA-damaging chemicals used for cancer treatment may need to be given in decreased amounts or dosages to prevent complications due to the increased sensitivity of cells in people with Bloom syndrome.

Bloom’s Connect (https://www.facebook.com/groups/130771598288/) is an international group on Facebook for people with Bloom syndrome and their support systems.

Dr. James German and Dr. Maureen Sanz run a registry (http://med.cornell.edu/bsr) for people with Bloom syndrome with the intent to conduct research and as a way to organize information from their many years studying the disease and meeting people with the condition.

Because individuals with Bloom syndrome are unable to correctly repair damage done to the skin from sun exposure, sunscreen is very important. Covering the skin as much as possible while outside is very important to prevent skin damage. Also, for areas that are exposed, wearing a broad-spectrum sunscreen with an SPF of at least 30 will help reduce the risk of damage and sun-sensitive rash.