genetics appointment

[Guest guest]

We had a genetics appt to discuss Charlie been included in the DDD study

(deciphering development disorder). Thank you for posting the info on here -

Charlie will be now be included in the study and we may get some genetic info

back if any abnormalities are found.

Stupidly I talked about the YASKO results - I did this as from what I have read

and understand from the study if nothing is found from the ist chromosone screen

then they will go on to do sequencing (which is what Yaskp genetic panel is)to

look at differences and conbinations which are increased/different to that of

general population (which again is what Yasko does).

The consultant said he wasn't totally dismissing the tests but warned caution (I

expected that bit). he did say that these SNP's were not what cause disease but

are changes seen throughout the general population (didn't get my chance to put

my 2 penneth it at this stage. However when he wrote to us he copied in all

's and charlies dr's in warning got be very cautious of interpretation of

these results and sent me a european policy relating to Direct to consumer

testing.

I am absolutley furious. All htese Dr's want to do is cover their own back,

regardless to detrement or in our case massive improvement to the child.

I now have to spen time I don't have responding and copying in all Dr's as I

can't have this on their file without an appropriate response.

Alison R