I was right to be pushy - we finally have an appointment at the Genetic Clinic

[mehgalegs]

Cons paed has been telling me she'll refer DS4 for over 2 years now.

I finally got round to making a few calls, slightly pushy, and low and behold we have an appointment next month.

Prof Patton from St Georges, any one know him?

What's next? I understand they ask about family history and DS4 will require a blood test. Prof wants to confirm it's not Angelman's Syndrome ( I think it is - place your bets)

Thanks SJ, from the inital tests he had last year they told us he does not have the deletion but that they would investigate further for the mutation and the UPD.

best of luck for yr appt mehgalegs. If it spits out some weird n wonderful chromosome irregularity give me a shout!

mummywhereareyou - think they only test parents once they find something / strongly suspect in the child. Once dd's wonky chromosomes were discovered they then looked to me and dh (also family history was big clue) main purpose for this is to offer gc for future pregnancies. Dunno whether they would go to lengths of going to yr ds's birth parents.

Thank you for all your kind answers,you have helped put my mind at rest with regards to genetic testing.

Am now going to get DLA forms done as really need the money for private SALT at £60 a hour every little bit would help.

Thanks again

I received DLA for my DD (originally GDD, later diagnosed with Sotos) when she was about 18 months old.

Our portage worker told me I should apply for this - I felt I was defrauding the system because, to me, my DD was not 'disabled', she was just a bit 'behind'.

Our portage worker helped fill in the form and said that if we didn't receive DLA in the first instance, we should not give up and carry on applying.

We did not have to go through the referral system as she was offered it without no further input (I think the DLA may have contacted our GP and lots of other specialists (eye clinic, hearing clinic, physiotherapist, occupational therapist, etc. etc.) and, if she was 'normal' (as I still like to think of her) we would not be seeing all these 'specialists.

We received DLA before we received the diagnosis of sotos, 18 months later, when she was 3 years old.

so glad to read this Mega