November 14, 2016

22q11.2 Deletion Syndrome, or 22Q, is a complex chromosomal abnormality that is relatively unheard of in the general public. 22Q Awareness Month, which is November, aims to change this by shedding light onto the syndrome. To do our part in educating the public, here are answers to 8 common questions about 22Q:

What causes 22Q?

22q11.2 Deletion Syndrome occurs when one small part of chromosome 22 is missing.

What are the symptoms and effects of 22Q?

The small missing piece of chromosome 22 can cause nearly 200 different health and developmental issues. The issues can include breathing problems, developmental delays, gastrointestinal issues, disturbances in the immune system, and more. See a complete list here.

How rare is 22Q?

Michelle Breedlove Sells, a 22Q advocate, call this syndrome, “The most common ‘rare’ syndrome you’ve never heard of.” Some estimates show that 22Q affects 1 in ever 2,000 babies born every year. However, the 22Q Family Foundation believe that number is low and that 22Q is much more widespread.

Are there other names for 22Q?

As if to make things more complicated, 22q11.2 deletion syndrome is also known asDiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler Cardiofacial syndrome.

What kind of care do people with 22Q need?

Because there are so many different symptoms of 22Q, each patient will need a medical team complete with professionals from a wide range of specialities. This team will likely include cardiology, endocrinology, immunology, and developmental professionals. Depending on the patient’s unique symptoms, he or she may also require further care from other specialists as well.

Does 22Q run in families?

Yes and no. A child born to a parent with 22Q has a 50% chance of having the syndrome. However, this is not the only way it occurs. When neither parent has 22Q, a chance occurrence can still take place. It is not something either parent has control over.

Is there a cure?

There is no cure for 22Q. However, with proper medical treatment, specific symptoms can be treated.

What do families do?

Any unexpected diagnosis can understandably worry parents. However, with proper care, many 22Q patients go on to live fulfilling and productive lives. An important part of coming to terms with this diagnosis is connecting with others in your position. Consider joining support and networking groups online and locally.

Do you know someone with 22Q? Share this article to spread awareness about this syndrome. For more insights, make sure to follow Epic Health Services on Facebook!