Is MLD actually a diagnosis or should i push for more?

[MumofOscar]

Last time i posted here you were all so lovely - anyone wanna help me again?

After last visit to paed i told her that i want a diagnosis for DS and were there any further avenues to explore. She said that on his statement it says moderate learning difficulties and that she thinks everything that can be done has been done. We're being transferred to a new paed now anyway, so is it worth pushing further? DS is 5, has no speech at all - just grunts, his gross motor skills are quite delayed (didn't start to walk til 3) plus a fedw other issues. He attends a SN school.

Any advice would be really appreciated. Off to meet school bus now. BBL.

Well without knowing whats been done and assuming the normal things (eg genetics) ahve been ruled out, I would say that a significant proportion of children do get a similar dx to your son. IIRC our Paed said somewhree around the 50% ,mark of allkids they see never get a defined name.

Which can be hard becuase we alllike to have names, reasons and auses, as well as the things that can go with a dx such as support groups.

I don't think it has any specific meaning unless in relation to IQ test but even then it's a murky area - but I don't agree with the paed when she says everything has been done ! {shock] What communication method does he mainly use ? PECS or Signing? Or that a work in progress ?

or does she mean everything in relation to testing - that makes more sense !

peachy Yes, he's seen a genetisist (sp?) who has done all he can re testing. The community paed referred him to consultant paed who then referred him to genetisist. Genetisist said "yes i can find a dx" so consultant paed discharged him. Then genetisist didn't find dx so back to community paed who says thats all they can do. Hope that makes sense and thanks for info. I do think i'm probably clutching at straws a bit.
cyber Yes she did mean everything in relation to testing. We used total communication for a long time (PECS, Signalong) but now mainly sign as that is what seems to work.

Thanks for replies btw. I did write that at the start of my post but it disappeared!!

Has he had any other diagnostic tests, e.g. MRI scans, EGG's..?

New chromosome and genetic tests are being developed all the time, so you may want to check how and when your DS will be recalled for further testing.

My DS has never received a diagnosis and it's very frustrating and isolating. Groups like Unique are still good for kids like ours and they have a good newsletter and conferences etc. I have been told by my son's geneticist that it is possible that a test will be developed in about five years that will test all the genes, possibly just using one drop of blood. Exciting (but scary)

Thanks, donkey
When I asked paed about MRI/ brain scan, she said there was no indication that it was needed. This is why i'm confused as i would have thought such a significant delay was indication enough.

The last we heard from the geneticist he was going to discuss with his colleagues to see if there was anything further that could be done. That was some months ago so maybe i will chase him and see what he says. I think he does still believe its genetic but has done all he can IYSWIM. I'm just impatient, I guess. And yes, frustrated and isolated. I will look into Unique again. I had a look when we first thougth it was genetic but then didn't bother after results came back.

You know about BIBIC right?

Just looking into BIBIC actually. It has been mentioned on here to em before. Definately looks worht a look. ta.