Bloom's Connect

About Bloom's Syndrome

 

Bloom's Syndrome is an autosomal recessive genetic condition, meaning that both parents must  be carriers in order to pass it along to a child.

Bloom's is a rare condition affecting all systems.  While everyone is an individual and Bloom's effects us all differently, there are some characteristics that allow for us to all be classified as having this Syndrome.  Some of these include a long, narrow face, small and slight stature, and decreased immune system responses.  In addition, some have reported tendencies to having mental retardation, sterility or other fertility issues as well as early menopause.


As children, we are considered people of short stature.  By the time we reach adolescence, some of us gain enough height to come close to the average range, although most adult males still feel the misguided social effects of being shorter in stature.

Many of us have various issues with less efficient immune systems than those around us.  We tend to get more infections as children (ear infections in particular).  Many of us develop lung and heart conditions.  Some have reported issues with arthritis and unrelated joint and muscle weakness and pain.  Some have reported circulation issues as well.  Since many more of us are living into adulthood now, more of us are able to report increased incidence of adult onset diabetes.  This may be related to Bloom's or alternatively related to the treatments we have had over our childhood with regards to Bloom's related medical issues.

The big issue with us and our immune systems is CANCER.  We tend to get the full range of cancers as the general population, but usually earlier and more often.  It is VERY important to recognize that cancer is no longer the killer that it used to be.  For so many the word cancer is synonymous with quick death sentence.  This is not necessarily the case anymore.  Medical advances in this area have allowed many of us to survive into adulthood and live with fairly equitable quality of life as the general population.  That is not to say that we don't get or die from cancers, we do.  I just want to point out that it should not automatically scare us.  Hopefully we are connected with medical professionals who know about Bloom's enough to watch for signs and symptoms and regularly test us for various forms of cancer, even when not usually necessary in the general population.  For example:  cervical, uterine, breast, and colon cancers should be screened for prior to the usually recommended age.

Advances in Reproductive Medicine have also had a major impact on this area and quality of our lives.

While mental retardation has been associated with Bloom's Syndrome, as well as learning disabilities, it is VERY important to keep in mind that laws allowing us to attend and remain in school have only been around since the mid 1970's so the testing done has been quite biased and in my opinion inaccurate.  This is not to say that some of us, like anyone else in the population, may not have these issues.