Because of the way our understanding of the 22q11.2 deletion evolved, several different names continue to be used for what we now know to be the same condition. These older terms include DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, Cayler cardiofacial syndrome, Shprintzen syndrome and more. Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS, CTAF, or the other related syndromes. Individuals with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome.
Unfortunately, having a syndrome that is called by several different names can lead to negative consequences, not to mention the general confusion it creates among parents and professionals. For example, parents of a baby diagnosed with diGeorge syndrome may be frustrated by the lack of information about DGS, not realizing that VCFS and 22q resources (including this Foundation!) also pertain to their child. Health care providers may not access all current and available information if they are searching for literature under an older name. Perhaps most importantly, having several names splinters precious resources, hampering a united approach to research and support.
The Foundation’s position is clear: Rather than further dividing our small 22q community, we aim to unite and empower those affected by promoting use of the name currently recognized by the standard chromosome naming system: 22q11.2 deletion syndrome.
To address this important issue, the Foundation is pleased to launch the Same Name Campaign, an educational effort aimed at professionals and families, with the goal of establishing consistent terminology for the 22q11.2 deletion syndrome. As a parent-driven organization, the Foundation acknowledges that families who have lived for years with a diagnosis of VCFS, DGS, CTAF or a related condition may find it difficult to switch to a different name. We encourage you to support the aims of the Same Name Campaign by mentioning the 22q11.2 deletion, along with or without its older diagnosis name, when describing yourself or your child. Over time, as professionals more consistently use the 22q11.2 designation, fewer and fewer people will be newly diagnosed with VCFS, DGS, CTAF or other outdated names; our goal is that eventually, all will be on the same page, moving in the same direction, supporting our worldwide 22q community.
The Foundation will of course continue to link our website to all related groups indefinitely, regardless of what name they choose to use for this condition, to make sure that anyone searching for information has the best chance of locating it.
The Foundation’s efforts include:
- Presentations at regional, national, and international meetings for genetics and other professionals involved in diagnosing the deletion.
- Distribution of a descriptive postcard encouraging consistent use of the 22q11.2 diagnosis instead of older names. Postcards will be sent to genetic counselors and geneticists throughout the US, included with materials sent to new families contacting the Foundation, and distributed at professional conferences through our traveling exhibit.
- Working toward consensus among professional and support organizations throughout the world. We are pleased to already have the enthusiastic endorsement of the Dempster Family Foundation, Max Appeal, and The Colorado c22c Group; each of these groups supports the use of the 22q11.2 deletion designation and will inform their members about the campaign.
- Encouraging publishers of professional journals to adopt consistent standards for naming the syndrome in all published articles.
How You Can Help
- Think 22q! – Make the switch to 22q, even if you have used an older name for years. It may seem tough at first, but over time, “22q11.2 deletion” will seem like second nature.
- Educate healthcare providers, including genetics specialists, about the effort to adopt a single name. – Since most families meet with a genetic counselor or geneticist at some point in their journey, these specialists represent a crucial gateway to diagnosis. Getting the word out to these key professionals will ensure that newly identified children and adults go home with the right diagnosis name!
- Support the Foundation’s work – Your tax-deductible donation to the Int’l 22q11.2 Foundation allows us to fund this and other initiatives that benefit people with the deletion and their families. You can donate online to help the foundation.
Pass it on! – Tell others in your 22q network about the Same Name Campaign. We can all make a difference! Download the Foundation’s slide presentation or infographic on the Same Name Campaign and present it to all who will listen.