Here are some suggested organisations that offer expert advice on SN.
Just got Brain MRI results today for ds2(32 Posts)
Thanks for asking Milge
Results were a bit inconclusive really. Apparently ds has a little more fluid in the ventricles than you would normally expect - so this needs to be monitored just in case he needs a shunt.
Also, the white matter round the ventricle (shows up as a ring) was a little thinner than you would expect. What does this mean? I dont think they are really sure. Apparently it could account for ds's global delay, but might not. Now its on to the genetisist to see whether they can `spot' anything
bl**dy ! (sorry just got to get that out of my system!! - whole dx stuff really sucks and feel like my little man is some sort of specimen!)
Felt really low and cheesed off when we came out, probably due to the fact that we had just spent an hour and a half talking all about the things ds was NOT doing! Also, the fact that they can see some sort of physical "abnormalities" on the MRI just sort of hammers it home iykwim
HOWEVER, the paed did feel that ds had `come on' a lot since she saw him last and he is now cruising along the furniture, smiling as he goes and he is generally making his presence felt a little bit more which is lovely
I've just got to keep looking at my little man to remind myself he's still the same little person, regardless of what they are saying about him.
just wanted to acknowledge your post. And to agree with you that yes, whatever they say, he's always your little man. Diagnosis of anything (I have experience of diagnosis as an adult which is very different so I hope I'm not speaking out of turn) is incredibly stressful and difficult to come to terms with, but there are some things - the really important things - that diagnosis doesn't change.
- glad all is ok. Merlot, i think our dd's must have been twins. My dd's report was virtually identical - Basically it means they don't know, but that theere is nothing obviously physically wrong with her. We have our genetics appt on 16/2, but i am very reluctant. As this weeks events with dd have proved, your will get there eventually, just like mine did. The truth is nobody really knows the cause for non specific gdd, and i really wish i had just accepted this when she was 6 months old and not gone through all the palavar.
Thanks hatsoff - of course you are not speaking out of turn, it was lovely of you to post
Milge - good luck with the genetics appt, I'll be thinking of you. Our appt is on 8/3 - and like you, not looking forward to it (have visions of them leering at him like `Count Olaf from Series of Unfortunate Events' with Oversized Magnifying Glass!)
its frustrating getting inconclusive results isn't it?
if i can be any help, email me. Dd1 had fluid in her ventricles, and ds2 has damage around them!
Thanks Lou Im ok this morning - its the usual post review thing
You've got more than enough on your plate atm, and I really did mean it about my offer of help -practical or o/wise
It is really mixed isn't it? In one way you're relieved nothing more serious has shown up, in another way it's bloody frustrating as you want a definitive answer for the delay.
It sounds as though your ds is doing really well - well done mini-Merlot!!
With respect to dd I just try to think that what she does is the best yardstick for her rather than having a diagnosis, as I'm pretty convinced at this stage that we're not going to ever get a label, just a collection of symptoms. We're seeing Count Olaf next month for a genetics review, and she's being scanned again in March, but I'll be surprised if they can tell us anymore.
Merlot, it's such a mystery, isn't it? My dd's MRI was clear but her EEG shows abnormalities, 'within limits for autistic spectrum disorder'. Eh?!!!
I'm really pleased the paed feels ds has come on- that's fantastic news, and much more important. Those appointments talking about what your child CAN'T do are so depressing.
I think, unfortunately, that at lot of the 'diagnosis' stuff is as much for the benefit of the medical profession and their research as the family (sorry tamum!).
I was very resistant to dd having a second MRI initially as I just felt that it wasn't going to help her in any way - it would just tick a few boxes for the diagnostic criteria. And the reality is, that although we know exactly what the abnormalities in her brain are, and we have a label for them, still nobody can tell me how it is going to affect her development. Because the girls who have this condition range from those who are severely disabled with massive health problems, to fully-functioning maybe very slightly delayed adults. I actually declined our last appointment with the geneticist. Just couldn't be bothered to go through something that wasn't at the end of the day going to make any difference whatsoever to dd.
It is hard though and I know I am lucky to have a clear diagnosis. It is difficult to know what I would want to do if we didn't. Really feel for all of you going through this.
You are right Merlot - your ds sounds like he is doing really well and that is the only important thing.
Hugs to you Merlot.
Can't offer much in the way of words of wisdom- I feel completely drained ATM.
Focus on your ds, and the progress he has made, unfortunately the "professionals" don't always have the tact and understanding that we hope they might! He is your son, and you will love him, for being him, whatever and whenever they decide.
Thanks guys - all sound words of wisdom. This board has been a life line for hammering home the fact that we are not the only ones going through this
HITC - beginning to know what you mean about wanting to decline investigations. We were up at the hospital again today to get ds's eyesight checked (no one really thinks that there are any probs, its just another thing to exclude because every know and again he sort of `drifts off' - I think these turns are slight absences). Well poor might had to have these drops in his eyes that hugely dilate the pupils and he is looking most fed up with himself now - and for what? They couldn't see anything wrong(I definitely dont think there is anything wrong with his eyes, imo his more likely to be having `absences' than having problem tracking), but, to quote,`just to be on the safe side we have to go again in 6 months'. Feel like I dont want to put him and me through that again, so will review whether we need to go nearer the time.
Chonky - Good Luck with your appointments- if your dd doesn't like the look of Count Olaf, she could always `do a Sunny' and bite him ;). I feel like doing that to them sometimes myself
Merlot, i declined a detailed orthoptics appt for my dd as she had one at 20 months which found that as far as they can tell, her sight is ok. They sent an appt. through , and i phoned them up and said i wouldn't be going as she can see perfectly. They said it was my responsiblity if something turned out to be wrong with her optical nerve causing her delay. All they were going to do was dilate her pupils like in advanced eye tests, gawd knows how they were going to get to the optical nerve. I am very much minded to decline any more poking and proddings.It is simply for the medics benefit, so they can shift the problem around all possible depts. I would love someone medical to say to me " we have absolutely no bloody idea why she is so odd, but keep coming to see us every 3 months so you can get some help if her symptoms become difficult". Oh, and if i had been told initially at around 9m, that if a baby is sitting up unaided by age 2, they should generally walk, i would have been saved months and months of heartache. Everyone i mentioned this to, said "oh, weren't you told this"
Thanks Merlot, sounds really nasty, but I am just putting the statementing battle on hold for now. My mum is still in hospital and I really don't think I am fit enough for the fight!
I am prioritising ATM and while I am doing that I am looking at DD in a whole new light! The SALT, physio, portage exercises have almost been thrown out the window and we are just having a great time together- she is such fun to be with and that is so easy to forget when you have all these targets being thrown at you. We have gone back to basics for a while and it has really taken the pressure off me.
It won't be long before I start to worry again thinking that I'm not doing "my best" and feel guilty about it, but for now I really feel it's what I have to do.
love and hugs to you and yours.xx
HITC I can completely see why a lot of you don't want to go through the ringer like this (and as a disclaimer this isn't the kind of thing I do). To be fair, I don't think many geneticists are going to just see fab research opportunities when they look at your children; loads of people do actively want genetic counselling because of wanting to know risk factors for further children they might have. You have every right to refuse, of course, and I can completely see why you might want to.
I'd be happy to help anyone who might want to talk anything through, but would understand if you don't
Hmmm...interesting Milge. Will definitely think twice about the next Eye appt.
Ikwym about the need for someone to say it like it is..... But I have to be honest, it would depend on my mood as to whether I would appreciate them being so frank
Interesting about the sitting by 2 years/walking connection. I didn't know that either.
Sorry TA Mum - crossed posts.
Also, didn't mean to tar all geneticists with the same `Count Olaf' brush Just the whole horribleness of the situation really .
Of course, you are absolutely right. I need to persue the Genetic route for the sake of our ds1 and to find out the risk for him (if indeed he does eventually want a family of his own).
Also, I feel that if there is a genetic cause/syndrome - it may well help with the treatment/help your child gets.
I have some particular difficulties with the genetics and my CVS test in our case, could I CAT you Tamum, as it is all rather lengthy?
Yes, of course Merlot, feel free (only if you tell me who Count Olaf is though ).
Milge, that's really positive to read the bit about babies sitting unaided at 2 are likely to go on to walk. I sometimes find it hard to imagine that dd will get there as she's still so floppy at 9mo so really good to hear that, as well as to hear how well your dd is doing.
Sorry tamum - hope I didn't offend you .
Of course I totally understand that lots of people do want genetic counselling incase of hereditary problems and to maybe help with a diagnosis.
I suppose I was really just speaking from my own experience where dd was given a provisional (though pretty definite) diagnosis, we saw a geneticist who confirmed that her condition was not known to be hereditary. We then get a confirmed diagnosis about 6 months later and then the geneticist asked to see us again. I declined the appmt but when I mentioned it so someone at the CDC they said "oh they were probably interested in seeing you again for research reasons". Sorry if that is not the case and my post was misleading .
MIlge - really interesting about the 2 years sitting thing - no-one had ever told me that either. I have always felt that dd probably would walk one day but I have sometimes wondered if that is wishful thinking more than anything else. Now I feel reassured that I am probably right .
No, of course you didn't offend me It does sound a bit unlikely to me that a geneticist would want to see a child with a condition that had been shown not to be genetic for their research but it takes all sorts I guess!
Ah I didn't explain properly - her condition is genetic (very rare) but is thought to be a random occurence rather than hereditary - (does that make sense?) They don't know why it occurs or what gene causes it.
Yes, makes perfect sense. It means she has a new mutation, so the person you spoke to may be right, I guess. Pretty awful though to try and see someone if it won't be of any benefit to them- I can see why you'd be fed up
we had exactly same eye appt for ds last week - nothing obviously worng but they 'have to check in case there is any sort of damage/injury from brain ops he had when tiny'. all looked ok though but they'll 'see him again in 6 mths for him to get used to them, then again in a year after that, so that as he gets older he can tell them what/how he sees things', which wont be for long time at this rate of development.
i'm pg again with 2nd, due in 7 wks and we asked for to be scanned and checked carefully in next nearest city hospital cos of ds' problems appeared after birth. nothing showed up on scan in pgcy. they ve been great in that hospital though and its where ds specialists are anyway so they know whats going on. they wish to mri scan baby after birth and apparently if under 3 mths they can usually get away with a jolly big feed and a jolly big sleep then whisk them into scanner! saves worry and hassle of sedation and anaesthetic thankfully. especially after seeing what ds went through.
we see ds neurologist in few wks for annual check up and intend to ask them if they know what we can expect from ds developmentally. they've never been able to say - noone has but after dev. assessment last week at 48/9 mths old his overall dev age is 28mths. we've had 4 yrs of not knowing what/how he'll develop. shame. still hes getting appropriate therapies to help and will most probably go to special school in sept.
sorry for essay!!
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