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 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 firstname.lastname@example.org or visit our donation page.
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 and lay persons. Early detection allows for early interventions and therapies which help to secure the best outcomes for our children.
The foundation supports care of individuals with 22q and their families. We provide support with vital resources and connections to experts regarding medical, psychosocial and educational needs. We support through legislative advocacy, awareness, educational conferences, and research. In addition, we are highly dedicated to improving the long-term quality of life for those affected by the syndrome.
At diagnosis, we are encouraged by available treatments and families usually invest their hope in the potential for better outcomes and cures for certain symptoms. Over the past decade the 22q11.2 Foundation has dedicated its time and resources to advocating and guiding families with up to date resources and connections. We the foundation, comprised of parents and professionals, have used the word CURE as a way to maintain hope that one day a cure could exist. Currently there are in fact cures for congenital heart disease, palatal differences, hypocalcemia, growth hormone deficiency and other endocrine disorders, as well as feeding problems to name a few. The foundation supports research and clinical collaboration among experts. We are constantly striving for a cure related to certain symptoms. To that end, we offer the example of CRISPR therapy which is exciting work involving the replacement of non-working genes with working genes. While this technology has not been specifically applied to 22q to date, the potential is great related to single genes. Ultimately our biggest challenge is to help find a cure for the behavioral and cognitive differences associated with 22q. There is hope and we are all working together towards one goal: better lives for those we love with 22q.
Improving the quality of life for individuals affected by the 22q11.2 syndromes through family and professional partnerships.