Microarray test results & bloody profs!!

[chickensaresafehere]

Have posted on here before about dd2,5,non verbal,learning disability,hypermobile.
We have had the usual tests done including a clear MRI,but she still has no dx.The neuro paed hasn't been particularly helpful,after we got the results of her MRI,he just said she had isolated speech delay,of which he sees 1-2 cases a year&she may talk by the age of 12!!WTF!!And has seemed to sign us off.
At an appointment last year with the cons paed,I stressed how upset I was,without a dx & asked him for help.He said he would contact the neuro paed again for advice.
I received a rather strange letter back,stating that it is quite difficult to access therapies if it is outside your patch?!Then that he wasnot convinced they would offer us anything different?!?
He went on to suggest contacting the Worster Drought Society,then said 'I would make it absolutely clear to you that we have no evidence that dd has WDS but the group may be able to point you towards specialist services for people with profound speech abnormalities'.Again WTF!??
He then set us an appt up with a senior SALT at Alderhey,(who said after examining dd that all her problems point to WDS)which has led to dd having microarray testing.We are off to see the geneticist on Wednesday with the results,of which I am none to hopeful.
Would just like advice about where to go next with this.Second opinions are generally frowned upon,as profs don't like to put another colleague down,am I right about this?Have any of you asked for a second opinion & what happened?
After counseliing earlier this year, I am feeling stronger & ready to kick some ass over this as I feel I am getting walked over by these people,but am not sure what my next step should be.

I asked for a second opinion for surgery dd was having and am so glad I did, also hopsital was fine about it, they said its fine to be as sure as possible. So I would say don't worry about that.

I really sympathise with the no diagnosis and confusing stuff from different profs, I have just been saying the same on another thread (its the bumpy road to diagnosis one-come and join us if it would help?). DD is 5.5 and also described as having profound speech and language difficulties, we have no diagnosis as such although letters say different things-learning difficulties, global developmental delay, specific language impairment-depending on who wrote the letter. We have a really lovey geneticist who has done all sorts of tests it was a really hard time this time last year with all that and MRI scan which also came back normal. Our neurologist thinks DD possibly has epilepsy but it isnt the cause of her learning probs and we have a genetics appointment soon but the geneticist has already phoned to say she has tested for all the obvious stuff.

Anyway I would ask for a second opinion if you are not happy. But I am not sure what the next step other than that is , I will be reading this with interest as had been working up to a thread very like this! So much waiting isn't there, its very difficult, hope you find answers soon.

'used2bthin' has your geneticist suggested the DDD study?

not yet but we are seeing her on the 8th May so I wonder if she will. Someone on the bumpy path to diagnosis mentioned it so I may ask if not. She found dd to have a very small bit of chromosome four missing so asked to put it on a national data base. Then found I also had the same deletion so thinks it may not mean anything.

I looked at WDS and it seems so much like DD I have emailed them to find out whether they can give more info on how it is diagnosed.

Meant to add, we have also had all sorts of differing opinions over whether DD's small head (microcephaly)is a factor. Geneticist said its a genetic marker for disorders and found her to be on 0.4thcentile, as did one neuro paed. Then a different neuro paed measured her as 2nd centile. Geneticist measured againa nd said, nope defo 0.4th centile, then measured me and XP and said we are in normal range. At which point I thought ok, she sees this a lot and accepted it one of her issues. Also her endocrinology dr measured 0.4th(she has a different genetic condition too which is not the cause of her delays despite one developmental paed telling me it probably was). Anyway last week the neurologist said no she's 2nd centile and so am I so to discount it! Argh! So now I have no idea where we are with it all. Sorry to hear you are in a similar position, it all takes so long doesn't it!

I think it's tricky, but often there is no dx.

Ds1 had a microarray last year, but it came back clear. They usually do tbh. You can ask whether you can go back in a few years when they'll have more ways of testing. Both the neurologist and geneticist told us they'll probably be able to give us answers in 15-20 years but it's just too early.

I am in the WDS Facebook group&they have been very helpful&supportive.But getting a dx of WDS is hard as there are not many WDS specialists.We asked the SSALT at AlderHey if she would refer us to one,but she said she wouldn't like to go over our current neuro paeds head?!?And would speak to him about it,but he seems adamant dd does not have it
This is why I was curious about a second opinion,as I think this may well be my next move.I am 99% certain the microarray will come back clear,so where do I go from there?Or do I give up looking for that elusive dx.I really don't know

I think if you have something in mind you should ask for further testing. If you have nothing in mind then it's different, but really for your own peace of mind you should rule out conditions you are expecting. Has the neuro explained why he thinks it isn't WDS?

Its hard isn't it. But I am also interested to know why the paed thinks your DD doesn't have it.

I have just been on GOSH page about it, I have never seen anything so similar to my DD in terms of symptoms, she has all of them. But her microarray was clear I think and her MRI normal so perhaps not if that is how it is diagnosed. Wonder if there is someone at GOSH you could speak to. Hopefully the geneticist can explain more too.

I just found this when searching for Microarray testing

Chickensaresafehere, do you live on Merseyside, we live on the Wirral or Cheshire now, and my daughter is very similar to yours, I have just taken all the terms you have all mentioned to google

She will be having the microarray test and back to the clinic on 6th July

EmRobo,have PM'd you