Bloom Syndrome FAQ

1). How does Bloom Syndrome affect someone's daily life?

Bloom Syndrome can affect an individual in a number of ways, both in terms of appearance and with problems regarding child birth and other problems that include an increased risk of cancer. Often individuals with the disease will not grow above five feet and will have problems with their skin and the blood vessels, which become dilated.

2). When does someone usually get tested for this disease?

The disease can be spotted very early on and can occur with symptoms of post-natal and pre-natal growth deficiency in the individual. This can continue, leaving the individual to be very short through out life. Women will be able to give birth but will experience an early menopause, whilst men who are infected are infertile and will not be able to have children. The disease also affects the skin, leaving the individual with noticeable effects both on the face and on the body.

3). Are there any side effects to the treatments?

There is little in the way of treatment for Bloom disease, however there are things which can be done to stop the disease from getting worse. Keeping the individual away from the sun, through the use of sunscreens is highly advised, as well as blocking other elements in the environment that could make the condition worse.

4). How serious is this disease?

The disease is extremely serious and can have a profound effect on the individuals life. Because the individual will be smaller than most, they may also suffer the risk of being treated like a young person or a child and not their actual age. Problems with sunlight and sensitive skin can also lead the individual to develop skin problems. There is also an increased risk of Cancer.

5). Is there any research going on now?

Research is being carried out into the origins of the disease and scientists have found several facts which uncover the characteristics of the disease. It currently affects around 1 in 50,000 individuals and seems to have descended from those with an Ashkenazi Jewish descent, with which it is also most popular. The disease is the cause of a mutation in a gene that helps with the repair of DNA and the balance and strength in the genome. The disease can be inherited but is relatively rare in this day and age.

6). Are there any drugs to help with it?

There are currently no drugs that can help with the direct effects of Bloom syndrome, however, scientists are working hard to find ways in which to battle the disease, by researching it in a deeper way than they have done before.