Bloom Syndrome

I am writing about a rare disease called Bloom syndrome. This mutation is of interest to me because it is a very rare mutation and also before my research, I had no idea that there was a disorder called Bloom syndrome. People that have BS (Bloom syndrome) have low birth weight and length. They remain much shorter and thinner than others in their family, not growing over five feet as an adult. They have a high-pitched voice.

BS is more common in people of Central and Eastern European (Ashkenazi) Jewish background. BS is an inherited disorder characterized by short stature, sun- sensitive skin changes, an increased risk of cancer, and other health problems. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. BS affects chromosome 15. Mutations in the BLM gene, which is a member of the DNA helicase, are associated with BS.

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The BLM protein is important in maintaining the stability of the DNA during the replication process. The mutations in the BLM protein associated with BS inactivate the BLM protein’s DNA helicase activity or nullify protein expression (the protein is not made). Lack of BLM protein or protein activity leads to an increase mutations. People that have BS usually got it when they were an infant or as an early child. Some signs you will have if you do have BS is you will grow slowly, limbs will tend to be longer, bird- like facial features (these include a large nose, small jaw, and large eyes), and “butterfly” pattern of dark red blotches.

Some symptoms you will have for BS is reduced fertility in females, infertility in males, immune system disorders, diabetes, and cancer. Patients with BS are 150%- 300% more likely to develop malignant tumors than the general population, particularly in skin, blood (leukemia), and epithelial cells. BS has a lot of signs and symptoms that are very painful. There is no treatment or cure for BS. Because of no treatment, it is a painful disease. There are no new therapies for BS either.

You are considered handicapped if you have BS because of all of the symptoms. How long you live depends heavily on the individual course of the disease and the access to quality cancer care. BS is an inherited disorder characterized by short stature, sun- sensitive skin changes, an increased risk of cancer, and other health problems. BS affects chromosome 15. The mutation in the BLM protein associates with BS.

BS has no treatment or cure. Learning about this disease just made me think how lucky I am. If you have BS, it is a miserable life. You are at high risk for cancer like leukemia. Not knowing if you are going to die today, tomorrow, or next year is awful.

I couldn’t even imagine what it is like. To anybody who has BS, you are in my thoughts and prayers.