Max Appeal is the national charity for people with the genetic condition 22q11.2 deletion, and it's associated conditions, DiGeorge syndrome and VCFS.
22q11.2 deletion is a genetic postcode that tells where genes are missing, and these missing genes result in DiGeorge syndrome and VCFS. There are very few genes missing, it is sub-microscopic and not shown on usual genetic tests such as amniocentisis. The genetic test (the FISH test) has only been available for the last decade or so.
22q11.2 deletion is the most common cause of congenital heart disease (babies being born with heart defects) after Downs syndrome. Endocrine problems, immunity, speech and language, and behavioural problems such as seen in autistic spectrum disorders are also very commonly seen. It is thought that 25% of adults will develop schizophrenia or some other serious mental health problem. In fact, there isn't an organ or system in the body not potentially affected.
It is estimated that at least 1 in 4,000 of the population has 22q11.2 deletion, which is thought to be the most common of the rare disorders and, being an emerging condition, the number of diagnoses is increasing every year.
Max Appeal provides information, parent contact, teens support and family events, so that people within the 22q community can get together as often they dont know anyone else with the same condition as themselves. Life can be tough for people with an invisible disability. You probably won't have heard of the condition but you will almost certainly have met someone with 22q11.2 deletion.
Max Appeal is a small charity that has big targets!