Bloom syndrome is a rare genetic disorder that affects fewer than 300 people worldwide. Of those people, about one-third are of Ashkenazi Jewish heritage.
The severity of the condition varies from person to person, but common side-effects include learning disabilities, recurrent infections of the upper respiratory tract, and diabetes.
Although there's no cure for Bloom syndrome, it's possible to manage symptoms and improve a patient's quality of life.
How Can I Know if I Carry a Gene For Bloom Syndrome?
The easiest way to determine if you carry a gene for Bloom syndrome is to participate in a genetic carrier screening test. These simple, non-invasive tests can pinpoint irregularities in the BLM gene.
In order to conduct a genetic carrier screening test, your general practitioner or OB/GYN draws a sample of your blood and sends it to a laboratory for further testing. Once your provider receives the results of your test, they can refer you to a genetic counselor who can better explain them.
Who is at Risk of Bloom Syndrome?
Bloom syndrome occurs as a result of mutations in the BLM gene.
The BLM gene is responsible for making a specific protein called RecQ helicases. Helicases bind to DNA and unwind the two spiral strands (double helix) that make up a molecule. This unwinding process plays an important role in cell division and repairing damaged DNA.
Anyone can develop Bloom syndrome, but it's especially common in people of Ashkenazi Jewish descent. You are also more likely to have a child with Bloom syndrome if you have a family member with the condition.
What are the Symptoms of Bloom Syndrome?
Like other genetic disorders, Bloom syndrome presents a wide range of noticeable symptoms. Telltale signs of Bloom syndrome include:
Short stature
A long, narrow face
A small lower jaw
A large nose
Prominent ears
High-pitched voice
People with Bloom syndrome are also at a higher risk of certain health problems, including:
Sun-sensitive skin infections
Ear infections
Lung infections
Respiratory problems, including chronic obstructive pulmonary disorder (COPD)
Many people with Bloom syndrome also develop cancer. People with Bloom syndrome can be diagnosed with any type of cancer, but they're usually diagnosed at an earlier age than members of the general population.
What Can I Do if I Find Out My Child May Have Bloom Syndrome?
Since the disorder is so rare, scientists are still learning new things about it all the time. If you have questions, concerns, or you don't know what to do next, make sure to speak up and talk with your OB/GYN, general practitioner, or genetic counselor.
You may also want to consider joining a support group or organization like The National Organization for Rare Disorders (NORD), Little People of America, or Blooms Connect, an international entity that provides compassionate support for families, parents, and people with Bloom syndrome. These resources can help you build a support network and make decisions about what's best for you and your family.
