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Genetics Appointment

27 replies

Bumblelion · 22/09/2004 14:24

Have got my first genetics appointment tomorrow and was wondering whether anyone else had been referred to genetics.

Basic background - youngest DD (nearly 3), youngest of 3 children, has global developmental delay but so far no cause has been found for this delay.

Has had portage in the past - but that now seems to have taken a back-step as she is now having Integrated Pathways, sees physiotherapist, been referred to Occupational Therapist - still waiting appointment, not sure what this involves, had MRI scan, CAT scan, spine e-rays, been through Great Ormond Street - EVERYTHING COMES BACK NORMAL SO FAR.

Next step is Genetics. Both me and ex-husband (father of all children) have got to go tomorrow. The reason they are referring my DD is because (1) she is very big for her age (wears age 4 clothes, size 10 shoe), but me and ex-H are not on the large size - him 5 ft. 7 and me 5 ft. 4 (2) she has two teeth fused in the front (3) she is loose-limbed (double jointed), (4) walks on the outside of her feet (5) has large thumbs(?) and (5) has global developmental delay.

If anyone has had a genetics appointment, what do they look for. Do they start off with blood tests.

Sasha has had chromosone tests which all came back positive.

OP posts:
Caroline5 · 23/09/2004 15:52

Result, Bumblelion! Glad you were able to get some information so quickly.

lou33 · 23/09/2004 18:20

Its a syndrome as a result of taking anti convulsants when I was pg (sodium valproate)

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