Rare disorder of brain=No consultant/Nurologist, What do u think?

[fnm]

Hi everyone, havnt posted on here for a while but do browse (much too often).

Just wanted your opinions on the following - My DS, just turned 2 has was dx with v.rare brain malformation. Although he is doing extremley well and i am happy with the therapies in place no-one has given us a proper explanation of his condition and more to the point he doesnt have a nurologist or consultant - Just a comm paed.

Anyhow would love to know what you think and what your experiences are, is this the norm?

His dx came through mri which was requested by his comm paed, when she gave us the results, she didnt explain much and gave me a print out from net. I have done loads of research into it and have joined a online suppot group in US. Tbh - i think no-one can explain because its so rare but surely someone must know something to at least give us a explanation instead of me searching every corner of the web!!

I am considering taking it futher to search for more knowledge, but part of me thinks because he presents quite mild considering the mri results then maybe this is the worse it will get so is it woth kicking up a stink.

Sorry for waffling on.

Hello and welcome back. I don't have direct experience, as DS problems are slightly different (ASD type language delay), but would have thought that the community paed should have referred you on to a more experienced consultant, if it is such a rare condition then possibly to a different hospital in your region that has more expertise.

could you ask for a referral to the hospital for neurology and neurosurgery. If it is rare they might be interested to see it. here

Hi TC, thanks for replying, yes thats what i thought myself, have been back to comm paed with questions, she has known of 2 cases similar to ds and they presented with less damage but more severe in presentation. im thinking of putting a letter together to ask her to refer us to someone with hight knowledge - even if that means traveling way out of area.

Thanks for the link ohmeohmy, just had a quick glance, ill have a good look through that.

yes, that's what I did with our paed, I looked up a neuro dr (in our case by research published in connection with the particular problem on pubmed/Brain journal) and then ask our paed to be referred.

Actually, I had in fact written to the cons in question (using the email published in the research paper) to ask if he would see us, when he said that it was worthwhile, then I asked to be referred.
It was worth the wait.

Hi my daughter was born with an aneurism of the great vein of galen (or an av malformation for short). She also has extensive global brain damage.
I would definately contact your paed and ask to be refered to an neurologist.
Even if your child is doing well it might just be nice to have somewhere to take any questions you might have.

My daughter is under GOS but because they were without an expert in her condition i bought her last mri plates and sought an opinion from a neurologist in the private sector. Just for piece of mind really.

Also as my daughters condition is extremely rare i also contacted Contact a Family who had some useful info

Hi, my daughter has widespread cortical dysplasia, but like you we have no neurologist, etc.

Wow, thanks everyone.
So from your replies i guess we have to take it upon ourselves to ask for referals. Why the hell dont they just say sorry we havnt a clue but we will direct you in the right direction !!!!!
My ds has schizencephaly, a open cleft on the left frontal lobe, thinning of the corpus callosum, mild hypoplasia of the cerebellum plus other damage, so far he presents mild right hemiplegia - and so far lady luck is watching over. but i need to know more, i have read everything to do with schizencephaly there is possible to read, all i want is someone to sit down with us and explain what everything means in our ds's case, and maybe, just maybe give us a prognosis or things to watch out for.

Thanks for all replies, i will defo take this futher. I have had a breif look on contact a family, i could find about 5 families, latest was 2006.

Thanks again

Well...

DD1 has hemimegalencephaly. She has mild hemilplegia. She also has GDD/SLD and a whole host of other problems. She has a relatively mild case (on MRI) and is relatively severely affected. I stalk the US support group and none of their children are as low functioning as DD1.

The vague theory seems to be that as these disorders manifest very early in pregnancy, if you get a bad case, the brain rewires on the "good" side and very little function is lost. If you get a mild case, the brain doesn't rewire and so whatever processing would be on the affected side is, well, affected.

Your problem is that if your child is an atypical case of a rare disorder, quite possibly the neuro won't be any help to you anyway. Most conditions are pretty variable and the neuros are mostly there to cope with the fall out of downstream conditions: DD1 has fairly stinky epilepsy, for instance.

I'm not saying don't ask for the referral - I think it's still worthwhile. But I think I'd be asking questions about rehabilitation of the hemi and which treatments will work well given the underlying condition, and how to monitor progress and be sure there is no regression - that sort of thing. They hate giving a prognosis at this age anyway, let alone for an unusual presentation of a rare condition.

Thanks r3dh3d, exactly whats going through my mind and what is preventing me taking it futher.
I feel we deserve a better explaination but then again i doubt they can tell me anymore than what we know already, suppose its looking for the reassurance. Feel there are more important cases out there.
There is a big chance of epilepsey. so far so good although its possible hes having absence seizures, just hope its not the start of others.
Tahnks for the advice re questions, ill take them on board. Ds has been doing a few sessions of constraint therapy, so far it seems to be going well, but for example today he has been falling loads, he can walk, but has poor balance/co-ordination, he a has a bit of a cold but today cant walk in a straight line, falling every minuite, its things like this i wish they would explain to me.

DS1 (13) had an MRI at the local hospital when he was very young. The local report said he had all sorts of weird and wonderful brain malformations.

However, the MRI scan pictures were sent to Guys and the Neurologist there rubbished the previous report and the only malformation he could see was a thin Corpus Callosum (although DS has multiple disabilties including SLD and we still await a diagnosis).

I wonder if hospitals with less specialised staff still make mistakes interpreting MRI's? I would get the opinion of a neuro.

Well, imo not walking in a straight line when ill is in itself grounds for a neuro referral.

DD1 has, as I say, fairly serious Epilepsy, but she's on a cocktail of meds to control it. Being ill lowers your seizure threshold, so when ill she has more seizures than when well; that's common. In DD1's case, because the whole of the right side of the brain is knackered, the seizures (wherever they start) will end up in the knackered side and take out the already compromised motor processing. So she will start to drag her left leg and fall over. Sometimes the seizures are subclinical ie there's no outward sign the seizure happened - except for these motor problems.

Now, it could be something entirely different, just another symptom of his condition - as I say, DD1 is very different to your DS. And of course, not all Neuros recognise subclinical seizures - some of them are quite sniffy about treating a "problem" that doesn't cause a problem iyswim. But still I think it's reason enough to be referred for a basic investigation.