Hi everyone,

My 3 year old boy has gdd, severe speech and language delay, mild Dysmorphic features amongst others. We are still waiting for the chromosome results from 6
Months ago due to staff being made redundant. In the meanwhile our consultant has referred us to a genetics councellor with a view to getting micro array testing.
Does anyone have any experience of either of these? It's all new to me, and hopefully one step closer to a diagnosis.

Thanks Kelly

Hi, whats the latest have you got your result yet?

Hi nat,

Thanks for asking, Still no news, been waiting 6 months for bloods results, the lab in birmingham laid some staff off! So we are waiting for that and also on the List to see the genetic counsellor!

Maybe well have some news soon, cross those fingers

Kelly x

Hi, do you know what they are testing? I thave seen a genticist, they will ask you lots of family history ?ions and lots about your child its ment to help them to decied on what testing to do. hope this helps and hope you hear somethink soon.Nat x

hi nat, we saw a genetic councellor 18 months ago who took all our medical history and did a family tree they also took a photo of alfie they then took back the information to a genetic consultant. we saw him last january when alfie had bloods taken for microarray testing. we were told it can take up to six months to get these results. we were told in june of last year they had found an abnormality and wanted to test my blood which came back with the same abnormality. We went back yesterday for the results over 12 months after the first bloods were taken and i know how hard and frustrating it is waiting!! microarray testing has only been availible for a few years and it enables them to detect even the most microscopic chromosome abnormialty which means in our case alfie has been diagnosed with a conditon that is so rare it is only detectable with this technology, i believe only about 300 confirmed cases in the world.
i really hope you get your results soon and it gives you some answers x