quickie about MRI's

[imawigglyworm]

Ds is due a MRI on Wed- one of the final things we can do to try and get a dx. And I was wondering, will anyone tell me/talk me through anything then? or will I have to wait for them to pass it on to my consultant?

No, they will report it (the radiologists have to look at each image, which is a 'slice' of the brain, often in 10mm slices from top to bottom), then the report will go to your Paed. Sometimes, they will send the MRI images to another hospital for further opinion.

DD1's images were sent from our local hospital to the bigger hospital with a dedicated neuro department, and they decided that she had a brain malformation (it is quite subtle and hard to spot unless you know what you are looking for, but definitely there and causes her great problems ).

We had a consultation within a few hours following an MRI in which everything was explained. However it was a private scan not an NHS one. They then sent everything to our consultant and copies of the report and the scan to us.

We then had another chat with our NHS consultant and worked on a treatment plan from there.

Good luck op - hope all goes ok - it's quite a daunting prospect waiting for diagnosis.

thanks, I guess it was just wishful thinking that i'd get answers there and then lol.
I know it wont change anything but im so desperate for a dx but consultant has hit a dead end and says the only way we could get answers are MRI and geneticist (sp) but they have a massively long waiting list. Im not very good at waiting.
Lougle whats the difference between brain damage and malformation? is it just a malformation is a natural occurance? (not sure how else to word it)

The waiting lists always seem interminably long wiggly no matter what it is you're waiting for.

We didn't necessarily get definitive answers but we did get a way to move forward and the MRI scan helped with the therapy and treatment route we needed to go down.

I've always understood malformation to be when the brain doesn't develop properly for one reason or another usually genetic. I'm sure if I'm wrong someone else will correct me.

Brain damage can occur for a number of reasons, due to an accident at birth ie oxygen starvation or a bleed at some point or an illness or virus. My child caught a strep virus when he was a couple of days old and that led to his condition.

We still don't know 11 years on how things will progress in the future but certainly the MRI scan helped to get him the best therapy tailored to his condition as early as possible and that's been a good thing.

Wishing you all the best hope the MRI clarifies things for your little DS
xx

imawigglyworm, yed, brain malformation is where something has gone wrong in the process of brain material production, in my DD1's case, the folding process of the brain surface has gone wrong, and everything is slightly off and assymetric.

Brain damage is where an otherwise normally developing brain is damaged either by physical injury or by oxygen deprivation or blood vessels leaking, etc.

Thanks very helpful to know

don't get hopes up though,dd has major problems but her MRI was normal!?

i do hope you get answers though, it's hard not knowing.

thanks fanjo, I get my hopes up everytime I see consultant (unfortunately). we are now down to MRI or geneticist for answers.

we are down to genetics,b ut just got appt for a neuro team in glasgow,it's wearing i know!

fanjo wer eof to genetics on Monday have been doing family tree ready for them

we see genetics on 7th October.

Strangely just saw the physio who last week said DD had very severe low tone and high tone in her ankles, today she said she is much improved, the mystery deepens!

will feed back after Monday am taking a very good friend with me to ask some rather searching questions on the chromsome side

hope you get some answers..am a bit fed up to be back into the DX process again tbh, had a nice break from it.

my son still waiting diagnosis,he had mri and genetic blood test which mri was normal,guess bloods normal as not heard anything but consultant did say he expected all to be normal,just wanted rule out few things as he thinks he has asd x x

ah dsha dthe normal bloods etc looking for fragile X and they wa snormal and later on paed agreed with me that ds shows no signs of asd

But neuro does think when come sdown to chromosomes that ds is probably going to have some changes

But will know more from Monday

HOw long have you had to wait for your genetics tests? I know it varies in each area.

Sorry I mean geneticists appointments

Ds is 5 and we finally got referal recentley only because we moved last paed refused to refer us anywhere .think we waited couple of months from referal so from that point quite quick but paed/neuro are quite convinced that's where answers will lie for ds3

Hi, DD has just been diagnosed after having various different tests including 3 MRIs--I think the answer to 'how long' depends on what your geneticist is looking for and that in turn will depend on how unusual your child's presentng issues.
For example, DD has hypotonia, hyperflexibility, glue ear, learning disability--but so do many other children thought to have genetic issues but no obvious diagnosis.
The testing is still quite crude in that you can't just feed a child's DNA into a computer and discover what looks unusual--unlss it's something quite big, ie, too many chromosones, too few, or bits of the top, bottom, or middle missing, you then have to test for individual problems, which is like fitting a stencil over the gene pattern to see what matches.
In DD's case her symptoms, plus the shape of her mouth and her long fingers suggested to the genetics team at GOSH that a research group in Holland working on a particulr gene on the 9th chromosone might be right--and that's how we got the diagnosis of Kleefstra syndrome. It was initially thought that she did not have it, but they have found a previously unchartered bit of the gene is missing in her case.
DD had her MRIs at Hammersmith Hospital and we were given immediate feedback but we were very lucky as the consultant is based at the hospital and was on hand to examine the pictures.
So v good luck in your search for a diagnosis and HTH.

Oh, I should add that the MRIs showed delayed development and some fluid filled cysts of uncertain clinical significanceie, they did not know what the meaning of the cysts might bebut the relief for us was that no areas of obvious damage were found.
If your LO hasn't had an MRI or an anaesthetic before, it might be helpful to know that they can take ages to wake up afterwards and be allowed home--we were at hospital for 3hrs longer than we thought!

Arabica ds has dx of cp but there convinced does not explain it all lots of his symptoms point towards a chromosome abnormality know going to take away and lot of ds point towards a problem on the 15th chromsome