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

(6 Posts)
imawigglyworm Fri 18-Jul-14 22:22:48

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.

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imawigglyworm Tue 04-Nov-14 17:27:42

Bumping back, just up incasewink

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Smwillia Wed 13-May-15 20:46:24

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 Sun 14-Jun-15 20:24:48

Sorry Smwillia i've I've just seen this. My son was diagnosed in 2013 too smile.
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.

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Icimoi Mon 15-Jun-15 11:41:23

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 Mon 15-Jun-15 19:05:22

Thank you Icimoi, I will look into it

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