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@Karen - Glad to hear are being well supported, having a good team of professionals that work with you makes such a difference. I'll check the FB group now and add you - there are other parents who also have children who have features of ASD but not a full diagnosis so hopefully you can have a chat with them. @natashalig : I know other families have had similar experiences that once they get their genetic diagnosis it doesn't always make that much practical difference to families - this is especially true for families where their child may be the only one, or one of a few, with that condition and it is known only by it's technical name. Many in this situation have told us how they were hoping for a diagnosis so they would have some sense of the future for their child but didn't get this. As you say though, it's still good to know what is the root cause and we find that even if having the genetic diagnosis doesn't make a huge practical difference, most families would still rather have it than not.

Lauren, natashailg, thanks so much for the advice and help. As you know I'm now on the SWAN facebook group and it is so wonderful and helpful and supportive. We've moved ahead with trying to get a diagnosis (have taken blood for microarray test but then find that it won't be done for years as they aren't funded in Wales, but now are going to give samples for the DDD study which I hope might provide answers in addition to whatever the mircroarray test would have done. It is a long road, and I'm still trying to pursue an autism assessment as well because as you say it can probably tell me more in practical terms than the genetic tests will! again thanks so much and if anyone is reading this please do consider joining the SWAN family--it is wonderful!