In 2003, a small group of parents and a local professional concerned about individuals affected by the chromosome 22q11.2 syndrome decided they wanted to make a difference. While sitting around a kitchen table in suburban Philadelphia, the group brainstormed about how they might help those afflicted with 22q. This group, shortly thereafter, created the International 22q11.2 Foundation, Inc. with these goals: (1) to improve detection; (2) to care for families; (3) help drive awareness among clinicians, teachers and the general public; and (4) support research that would improve outcomes for affected children and their families.
Many of the founding families shared a common bond – isolation and uncertainty. In 2003, very few professionals, let alone lay persons, had ever heard of their child’s diagnosis commonly called 22q or what the long term outcomes would be for their child. There was and still is considerable confusion surrounding the numerous clinical names used to describe the same condition. Since the creation of the Foundation, the name and awareness of “22q11.2 deletion syndrome” has gained momentum.
For example, we now know that the 22q11.2 deletion syndrome:
- Is the most common microdeletion syndrome; affecting as many as one out of every 1000 pregnancies.
- Is found in 1 in 68 children born with heart defects
- Is the most common cause of syndromic cleft palate
- Can cause many other problems such as immunodeficiency leading to difficulty fighting infection and autoimmune disease; issues with feeding and growth; hearing loss; breathing difficulties; kidney and spine differences; autism, learning and behavioral differences
- Has wide variability amongst individuals with the deletion or the duplication. Some individuals have almost all of the above issues and others have almost none. This confounding fact alone, which is quite unique as chromosomal syndromes go, continues to present challenges
We continue to work hard to help support early diagnosis, appropriate clinical care, and research. In addition, we help develop and support treatment plans to improve the long-term quality of life for those affected by the syndrome. Based on these ambitious goals, the Foundation has evolved into a tax-exempt nonprofit organization dedicated to “improving the quality of life for individuals affected by the 22q11.2 syndrome through family and professional partnerships.”
Over the last fifteen years, the International 22q11.2 Foundation has been successful in helping thousands of families through resources, valuable connections with top experts, creating awareness days, supporting research, and engaging with other support groups for advocacy and to deliver the most cutting edge information related to 22q. As we approach the next ten years, we want to expand our footprint and make 22q a household name. If you would like to support our cause, please email us at email@example.com or visit our donation page.
Detect. Know. Grow
22q Is the most common microdeletion syndrome; yet it is widely under diagnosed. This is in large part due to the wide variability amongst individuals with the deletion or the duplication. Some individuals have many symptoms and others have almost none. This confounding fact alone, which is quite unique as chromosomal syndromes go, continues to present challenges. We continue to work hard to help support early diagnosis such as newborn screening and education amongst front line clinicians, therapist and laypersons. Early detection allows for early interventions and therapies, which help to secure the best outcomes for our children.
One of the foundations overriding goals is to empower families to provide the best care for individuals with 22q. We provide support with vital resources and connections to experts regarding medical, psychosocial and educational needs. We organize awareness events, educational conferences, and support legislative advocacy and scientific research.
We are highly dedicated to improving the long-term quality of life for those affected by 22q. At diagnosis, we are encouraged by the treatment options available to families. Families invest their hope in the potential for better outcomes and interventions for certain childhood diagnoses. Over the past several years the Foundation has begun to shift its focus towards transition to adulthood. This is a time when our families need support the most. Many potential challenges exist for parents as they help guide their adolescent or young adult with 22q. The goal is to have him or her become competent and independent in making good life choices. In effect, helping them to GROW into their best self.
To improve the quality of life for individuals affected by chromosome 22q11.2 differences through family and professional partnerships.