Recently we participated in a vendor event with other direct selling companies to support a great cause. Until we arrived and were setting up our table I had no idea about the kids we would meet. I felt humbled to be a part of the event and to learn that the money we paid to rent a table is going to a beauty pageant this September! The girls were so helpful and friendly as we were setting up. Until now I had never heard of 22q as they called it. I decided to do some research after getting a thank you for our participation and found the Dempster Family Foundation.
WHAT IS 22q11.2 DELETION?
The 22q11.2 deletion syndrome is a chromosomal abnormality that can cause a wide range of health and developmental issues, including heart defects, breathing issues, problems with the gastrointestinal tract, immune and endocrine systems, differences in the palate, slow growth, and autism and/or developmental delays or learning disabilities in some individuals.
Children with this condition may have many or only a few of the symptoms, with varying severity. Physicians with expertise in this condition can quickly recognize the diagnosis in some patients and take steps to improve their quality of life, but in other children and adults it is not as straightforward.
The 22q11.2 deletion occurs in 1 of 4,000 live births, although this is likely a gross underestimate of the prevalence of this deletion, making it almost as common as Down syndrome. In addition, it is the most frequent cause of syndromic palatal defects and it is found in 1 of 68 children born with a heart defect. Despite this prevalence, many physicians are still not familiar with the diagnosis or its extreme variability. Because of this, a family may search for years for an explanation for the child’s problems, as well as for meaningful help. Sometimes patients are in their late teens or even adulthood before the diagnosis is made.
We are looking forward to another vendor event this fall to raise money again! For more information about 22q visit www.dempsterfamilyfoundation.org






