would you want to know?

[Woooozle100]

dd being investigated for metabolic problems that may be part of rare chromo disorder. Geneticist reckons most prob down to the chromo disorder (not that much is known about effects of 14 duplication she has, more known about 5p deletion cos that's cri du chat syndrome)

Previous mri scan shows leukodystrophy and other brain abnormalities. Again, could just be due to chromosomes. However, leukodystrophy is often progressive and in connection with hypos / metabolic stuff could indicate degenerative condition.

Have been offered another mri scan to see whether there has been any change. DD has lost some skills but this could be down to being poorly a lot. Her hearing seems to be worse but she is under frequent review by audiology and ent. In fact, she pretty much has a consultant reviewing most body bits frequently so from a management side of things don't really 'need' the mri. It would just confirm stuff one way or the other.

So yeah - what would you do? Would you necessarilly want to know about existence of degenerative condition? I'm starting to think I'd rather not know...

i have several thoughts whilst reading your post:

a) that if at this point you dont want to know, then leave it a while until you are ready to face this answer,,
b) that you already suspect that it is degenerative, and therefore dont want to be told that,
c)but if you already suspect the worst, then would confirmation actually make the physical situation any worse (apart from how you feel about it, which in essence is more important)
d)however, what if you do go ahead, and face it, then find out its not? you would save yourself an awful lot of worry...

Im sorry i cant be of any help. But i wish you luck in deciding what to do, and even more luck with the results that you get if you do go ahead. XXX

With my DD, it was a slightly different scenario in that she does not have a degenerative condition but I definitely wanted to know as (1) it helped make it easier for her to receive all the help and support that she needed and (2) for me knowledge was powerful. At least I knew a reason for her size and delayed development. It did not change the way I felt about her in any way, she was still my DD but it definitely helped in having a firm diagnosis (took nearly 2 years to get this, after lots of different tests, etc.) and also joining a support group for her condition.

Now 4 years later I go to yearly conventions where specialists come and talk about the latest developments and I meet other children with the same condition and, it may sound strange, but I love hearing their stories, especially newly diagnosed children and talking to their parents - if anyone reads everything about any condition, it is very easy to focus on the negatives. Now I focus on the positives and enjoy saying how far my DD has come, albeit in her own time.

personally i would want to know - once i know whats fact, its easier to deal with, rather than second-guessing all the time. But it really is your choice. XXX

actually can i retract part of the last statement? its not 'easier' to deal with, but instead it "can be dealt with" as opposed to not knowing whats going and not knowing what to do about it. sorry for the ramble.

miscutandstick - yes. I do suspect but kind of think getting it confirmed would quash out any hope. Like at the moment we can 'forget' about it and just bibble about in some state of denial / ignorance. I know someone who's child has terminal illness and when I first found out would often dwell on it as being one of the worst pieces of information you could have. I mean, yes we are all going to die but knowing that is going to come sooner and whilst a child - would that not taint each day with sadness? Or make you appreciate things fully and make every day special and count?

So we are now in similar situation. I have faced up to and to to some degree accepted that my dd may not be have a particularly long life. I reflect on it at times but I don't dwell on it every day. I try and make each day count but just get on with day to day stuff. We generally are very happy as a family. But I guess I do fear confirmation of progreesive disorder and sad ramifications of that.

Are we only happy cos we have that uncertainty? Would having a prognosis with an esitmated life span change that?

Though of course other side of the coin is that it mri could show no change and banish all these uncertainties.

Bumblelion - can see what yr saying and have found that myself with having diagnosis of chromo disorders. I love getting Unique letters and mags and going to the conferences.

See. I think / talk round in circles then don't really know what I genuinely think. That's why am interested in what other people think they would do in comparible situation. Sorry for being too heavy / maudlin / upsetting / whatever. Am at work and really need to do some and stop thinking about this. Will pop back later

popped back and bumping this for myself

to explain a bit more cos its all a bit waffly and confusing up there:

dd has diagnosis of chromo disorder. She has lots of problems - physical, mental, medical.. She may have metabolic issues related to or completely seperate from this. She may not have metabolic issues at all. Indicators for this are mainly reacurrent hypoglycaemic episodes. MRI scan last year showed that she doesn't have much white matter (the bit that protects the brain). We have a choice of repeating the scan to see if this has got worse. If it has got worse, then it is more than likely a serious metabolic condition. Basically, she will keep losing this protective covering until brain cannot function and she dies.

Difficult to tell if she is losing her skills from how she is. She has regressed in some areas but that may down to other reasons - autistic traits / being poorly a lot.

So our choice is to just carry on as we are. Or have mri scan and find out. Only got thinking about this cos of writing about previous mri scan on another thread.

I'm not sure how old she is ej? DD1 has (amongst other things) a metabolic disorder which seems to have led to delayed myelination though a degenerative condition was suspected. She had MRIs aged 1 and 2 but they were quite vague about conclusions because recent thinking is myelination goes on till 2 in NT brains and could go on till 4 or more in DD1. So I don't know how definitive these scans really are. Though the 2y one confirmed another condition she has, it didn't tell us much about what we were actually looking for. What I am trying to say ... you may not get a yes/no answer out of it anyway.

Personally, I'd want to know. My experience is that conclusions I come to myself naturally are less devastating... But that doesn't mean I deal with them better; I am never forced to deal with them at all but internalise instead. I think I'd rather have the bad news, get my grieving out of the way, push through it and then get on with making the most of what we had. But like I say, that's me, based on how I handle things - there's no right answer to this one, I think.

cheers r3dh3d. She'll be 4 in may. She had mri this time last year

I really feel for you ej; this is a really tough dilemma, one which I have not been faced with as my DS2 is on the spectrum. I don't know what I would do; I honestly don't know if I could face the fear.

I wonder how much support you have - have you tried or thought of counselling; things sound like they are stressful and ongoing with this dilemma adding to it all. I also wonder, if you are worried about what other people (maybe family/friends) would think if you decided not to go ahead with the mri?

I agree with r3, there's no right answer. I do know, that with DS' diagnosis I got to the point where I wanted to know one way or the other and when we did get a diagnosis could start some sort of process to come to terms with it.

I think I would want to know. DD's epilepsy diagnosis this week knocked me, but now I don't have to drive myself mad wondering if I am making up her drop attacks.

I suppose the only question is how variable the potential condition is, and would you be left feeling as though you were on a 'ticking timebomb', or would it be fairly predictable, and how would that affect you?

I would want to know. But that's just me. I have more 'what if' thoughts than are good for me because of the general uncertainty of DSs condition and prognosis (and his tender age!).
He has lost white matter too coz of his hypoglycaemia and no-one can tell us why he could not maintain his blood sugar(probably a metabolic problem and was treated as such, but we may never know for certain). We have so many (all!) unknowns. It is very hard to deal with. I agree with HelensMelons that a proper diagnosis, with whatever that entails would mean I could try to come to terms/accept/deal with it. I also understand what you mean though, where there is uncertainty, there is always hope.

Very difficult for you xx