A crazy long shot but any children with a PACS1 mutation?

[imawigglyworm]

There are only about 17 children diagnosed with a (recently found) PACS1 mutation so far around the world, my son and (at least) 2 other unknown children from the uk are in that 17.
I was wondering IF by any small chance any other parents of children with the diagnosis are on mumsnet and would like to get in contact?
We have a private group on facebook where we are in contact with about 11 other families around the world so far and we have found it a huge help as there is so little information about at present.
I am/my son is registered with unique and they can pass on my contact details if they have you registered with the same condition.

I would love to hear from other families and our PACS1 family can offer a lot of support.

[imawigglyworm]

Bumping back, just up incase

[Smwillia]

Hi, my son is one of the first 4 children to be diagnosed with pacs1 in the uk. This was through the welcome foundation with his diagnosis back in 2013. We are not registered with unique. Located south london

[imawigglyworm]

Sorry Smwillia i've I've just seen this. My son was diagnosed in 2013 too .
There are now about 20 children worldwide that have been diagnosed with the Pacs1 mutation. It's been a great help talking to other families going through the same.
How old is your son? Feel free to private message if you'd prefer.

[Icimoi]

Just a suggestion generally for parents of children with unusual mutations - it would be worth contacting the Genetic Disorders UK charity - they run Jeans for Genes and are a sort of umbrella organisation. Amongst other things I think they provide grants for small support groups.

[imawigglyworm]

Thank you Icimoi, I will look into it