For Everyone
The way 22q11.2 deletion affects an individual is unique to them, no two people have exactly the same issues.
We know that this is a source of much frustration for those with a new diagnosis, perhaps of their child or during preganacy. Unfortunatley it really is a crystal ball job!
It seems that there is no correlation between the number of genes that are missing (and that can vary considerably) and the degree of severity of problems. It is also not a given that more severe congenital problems, say very complex heart defects, automatically means that there will also be a correspondingly hig severity in other problems, such as learning and behaviour.
Possibly the thing to do is to look closely at the issues yoou know are there and keep a weather eye out for those that might appear.
If you have specific queries, and for people with a new diagnosis of a child, baby or during preganancy... PLEASE get on the phone!
Max Appeal is here to support you, we have all 'got the t-shirt'. Anything you tell us is treated with the strictest of confidence. We don't have prejudged ideas and will try our best to give you the information and support you need whatever your situation.
We know that this is a source of much frustration for those with a new diagnosis, perhaps of their child or during preganacy. Unfortunatley it really is a crystal ball job!
It seems that there is no correlation between the number of genes that are missing (and that can vary considerably) and the degree of severity of problems. It is also not a given that more severe congenital problems, say very complex heart defects, automatically means that there will also be a correspondingly hig severity in other problems, such as learning and behaviour.
Possibly the thing to do is to look closely at the issues yoou know are there and keep a weather eye out for those that might appear.
If you have specific queries, and for people with a new diagnosis of a child, baby or during preganancy... PLEASE get on the phone!
Max Appeal is here to support you, we have all 'got the t-shirt'. Anything you tell us is treated with the strictest of confidence. We don't have prejudged ideas and will try our best to give you the information and support you need whatever your situation.