Dystoina

[zebradebra]

Hi there.

DD 22 months, has just recieved a diagnosis of dystoina. I know very little about this, and didnt really ask many questions at the appointment as i was just so relieved we now have a diagnosis ( it been a LONG year!). All i can work out from the internet is that its genralized, as in it affects lots of areas. she is been referred to the Evelina in London and we have been told we can expect the appointment VERY soon.

I now have a MILLION questions floating around my head !

Does anyone else have experiance of their dc having such an early onset of genralised dystoina?

Also, and despite been told not to by the neurologist, i did the dreaded Google search and have concerns that my dd may have the iron accumilation NIBA dystoina. Bloody google!

thanks in advance

Hi I dont have a child with dystonia but my sibling is a sufferer. It is generalised dystonia and effects his jaw/neck/back and legs. He also has acid reflux issues but not sure if that is part and parcel of the problem or an aditional one.

Basically his muscles go into spasm and this causes pain. It causes his head to shake on bad days similar to someone with parkinsons and hands too. More so if he has to concentrate hard on a task like picking up a pin or mending something small, or is stressed. Stress exacerbates the situation for him.

All the tests he has had over the years have never been invasive, mostly scans, mri, xrays. He is on meds for muscle spasm and pain and leads a normal life.

There is no cure and he was told eventually he maybe wheelchair bound but I will say that he was told this in his teens. He is in his 40s now, married, has children has had a succession of good jobs in his life, climbed cliffs, sailed boats raced fast cars There are a lot of things he cant do now ie he cant do a lot of driving now if he is having a bad day etc but he now works for himself and is a proffessional photographer and it doesnt look like he will be wheelchair bound any time soon and unless you know him you wouldnt know he had dystonia at all x

Many thanks coff33pot. Your brother sounds like an inspiration. I am hoping dd doesnt need a wheelchair, but her walikng is affected and she cant walk far, sometimes her leg gets stuck and or twists. I carry her most places at the moment as she finds the pram uncomfortable. I wont be able to do it much longer as she is getting heavy!

I suppose we are entering a whole new chapter now we finally have the diagnosis. She has had MRI, lumber puncture, eeg etc. So hoping not much more in the way of testing. They want to do a genetic test, but hope that's it.

Many thanks again

My brother was just over 3 months prem and weighed not even half bag sugar and even through that he is 6ft 3 ins LOL and dishy with it! Nothing was advanced prem/medical wise as it is now.

It is a whole new chapter for you and I dont doubt its a hard scary one but everything on the internet is always worse case senario and even doctors give you bleak outlooks rather than positive (its in their disposition ). Dont read to much into your lovely DDs future. Take each day as it comes and fill it with all the life experiences every child should have and I am sure she will surprise you big time :) xx

Thankyou cooff33pot xxx