Not Sure What to do Next

[madlet]

Hi there, I haven;t posted before but I am now at the end of my tether. My DD2 is 2 years 4 months and is not walking or crawling yet. She is seeing various people, mototr nuerologists, paediatricians, physio etc but we still don't have a diagnosis. I am beginning to feel like we are stuck in a maze and I don't know whch way to turn.

She has low muscle tone, multiple birth marks and some vitiligo on her back. However there are no other problems. Mentally she's great.

Has anyone else had similar problems with their child?

Sorry if this is a bit muddled I'm just not sure what to do next

Thanks

S

Have you seen a geneticist yet? Dd3 was diagnosed on the spot when we saw the geneticist, it was all in the skin markings that noone else had bothered about! May be no use to you what so ever, just a thought.

I would ask to see a geneticist too. We saw one and he was fantastic. Could tell just by looking at DS2 that he didn't have a genetic problem. I would imagine that is the way to go. Good luck.

Hi Thanks for this. We are seeing a geneticist but not until May. We have private medical through my work buT i couldn't find one who deals with children privately.

May seems such a long time to wait. 'Bigcar did your daiughter have any other symptons?

Thanks

Are you sure private is the best way to go? Many childrens specialists only work with the NHS, so you may be missing out on a referral?

Just a thought.

Good luck with the diagnosis, though, whatever happens. Keep us posted.

No I would rather go through the NHS but they can't give me an appointment until the end of May. That seems so far away.

Thanks anyway, all help appreciated

Sx

madlet, dd3 has many other things going on apart from the skin markings. Sometimes it's worth ringing the genetic clinic and asking if they'll offer you any last minute cancellations.

Madlet,
where abouts are you? We did consult a pvt genetist who is part of genetics team for the county but could offer us a 6-8months wait for a NHS appt but saw us in a week on pvt basis! Its always useful to check with your local team if any of the consultants do private consultations or not.