To the Editor:
DiGeorge syndrome (DGS). Velo-cardio-facial syndrome (VCFS). Shprintzen syndrome. These are outdated names used to describe the same genetic disorder: 22q11.2 Deletion syndrome, or 22q.
One in every 2,000 to 4,000 children born and 1 in 68 children born with congenital heart disease has 22q. The number of symptoms (nearly 200) and their level of severity can vary greatly from one child to another and are not always evident at birth. It is the second most common genetic disorder (second only to Down syndrome), yet it is practically unheard of in Kentucky.
Why is this important?
Playing a medical name game is detrimental to Kentucky families. Because 22q can affect every system in the body, it is imperative that doctors in all disciplines abandon use of old terminology when evaluating patients and forming a diagnosis. Confusion caused by many names may contribute to delayed and missed diagnoses.
An accurate and timely diagnosis is critical and can lead to earlier interventions and better outcomes for affected individuals and their families. To that end, the 22q Family Foundation, a non-profit organization dedicated to raising awareness for 22q, provides much-needed support and many valuable services and resources free of charge to families affected by the disorder.
Among them are:
Education Station—private consulting services help foster a collaborative working relationship between families and schools.
Job and Career Accelerator—help for young adults in their search for a college or continuing-education program, or help for both young adults and parents seeking employment.
Riley Dempster Scholarship Program—for young adults looking to further their education through two- or four-year public and private universities, trade and vocational schools, apprenticeships, and transitional/life skills programs.
The 22Q University Library—an extensive online resource for information, videos and webinars to keep the 22q community as informed as possible on current and late-breaking scientific research.
Kentucky families who’ve received a diagnosis other than 22q may not be aware that these services are available to them.
To learn more, go to www.22qFamilyFoundation.org, call (831) 200-4227, email us at info@22qFamilyFoundation.org, and connect with us on Facebook, Twitter and Instagram @22qFamily.
We are families supporting each other. With your help we can spread the word, clear up the confusion and help those individuals with 22q become as successful as they can be through their early years and as they transition into adulthood and beyond.
Edward L. Burns