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pinkkelly · #1 12-13-2011, 06:51 PM

Hi everyone,

I've got a beautiful 3 year old boy, with severe speech and language delay, gdd, webbed toes, hyper flexibility , hypotonia mild dysmorphia and anger issues! Still
Not any closer to a diagnosis, MRI has no problems, fragile x ruled our too. We had
Bloods taken 20 weeks ago, still no results, has anyone had any experience of how long it can take? Very frustrated mummy xx

pinkkelly · #2 12-13-2011, 08:49 PM

(12-13-2011 06:51 PM)pinkkelly Wrote: Hi everyone,

I've got a beautiful 3 year old boy, with severe speech and language delay, gdd, webbed toes, hyper flexibility , hypotonia mild dysmorphia and anger issues! Still
Not any closer to a diagnosis, MRI has no problems, fragile x ruled our too. We had
Bloods taken 20 weeks ago, still no results, has anyone had any experience of how long it can take? Very frustrated mummy xx

Should have said that was for chromsome disorders! Haha

Nat · #3 12-14-2011, 10:21 AM

Hi do you what they were testing for? 20 weeks is way too long to get results, i think you need to ring them up,as these people have a habbit of forgetting about you. Nat.

***Lucy*** · #4 12-14-2011, 11:00 AM

Yes I would suggest phoning them too. They lost our genetic tests but didn't think it was important as they thought it was something else, it did turn out to be a genetic condition. Very frustrating. 20 weeks is a long time! Do you know where they where sent? You could chase them direct then rather than going through secetaries xxx

pinkkelly · #5 12-14-2011, 11:58 AM

Thanks for your replys :-) it was for chromosome disorders, the were sent to Birmingham genetics lab, and apparently they are really behind, I've phoned the pediatricians secretary so I guess it's the waiting game. The Consultant has already sent a letter apologising hmmmm, I think I'm going to have to be a thorn in their side. Can you phone up the lab direct?

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