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 the intention to help drive awareness, detection, and find a cure.
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 chromosome 22q11.2 syndrome has gained momentum. For example, we now know that the 22q11.2 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 ten years, the International 22q11.2 Foundation has been successful helping thousands families through creating awareness days, building a website, supporting research, and engaging with other support groups 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 firstname.lastname@example.org or visit our donation page.
Improving the quality of life for individuals affected by the 22q11.2 syndromes through family and professional partnerships.