Stressing DNA first?

[CastielFan]

Know I'm not the only one on here, but seriously these past few weeks I feel like I have gained 10yrs, kinda looking ancient around the eyes (Seriously I'm 27 and feel like I look twice my age!) Scrolling this forum and seeing that there are people on here who seem to deal with things like a walk in the park!
Waiting on these people who are dealing with Genetics, who have passed on a half (A'ed) message to me through Pediatritian that they found something, that might be something but they don't know because they have never seen it before. Want me and Husband to go in and have a blood test to see if this 'Strange' thing they have never seen before is just a hicup that means nothing, but if we don't have it, it means it's more than likely what is causing DD's well below average working/verbal memory and other problems, as if not having a Dx wasn't annoying as it is, we have become 'first timers'!
If it's never been seen before should I even be stressing as it could just be an oddity that is nothing but if it is something then is that why they have never been able to give me a dx ? I have no idea about DNA and the make up is this normal for them to find something they don't really understand and call us all in for a blood test? Sorry I'm being a stressy moo :( Hate it when I can't just stroll the net and find the answer or at least as a question that makes sense that I know other people have been through. Feel like I get left hanging everytime I speak to one of these 'professionals'! (Also I really hate feeling daft - I hate forgeting the wording the doc used! All of this is making me feel like I've lost it, and feel like I am the daftest mother on this earth! lol Wheres that rock and do I need to pay admittance to hide under it?)

Not sure what kind of response you need. Sorry it's so stressful. There is more of us 'first timers' than you think. We have both: an inherited meaningless hiccup and a meaningful genetic duplication. If it is not inherited then at least you have your dx (even if it's not a name, just a sequence of numbers) and it will be easier to get support. You won't have a prognosis though. I think that's the hardest.

it's tough Castiel, really, you're sitting there expecting a yes/no answer and instead you get a maybe/maybe not which leaves you completely up in the air still. This could be something that you and/or dh have in which case it's unlikely to be causing difficulties and nothing to worry about, this happens probably more than you'd think. Unique is a very good resource for all things genetic and well worth a look.

at glimmer, hope all's well with you

Ive been sort of in the same position, my son is 2 and had a genetics test and we had a letter to say an abnormality had been found but they were not sure of the significance of it. My husband and I had to go in to give blood and turns out my husband also had the same abnormality and because he is not disabled it was just a normal varient and not the reason for our sons difficulties. So it was news but no news, hes still undiagnosed which is the most frustrating feeling in the world! all i want is someone to tell me "your son has...." but as time goes on and more tests are being done the less likelt it is to happen i think. Hes got global development delay in everything and still cannot sit unaided or crawl but they just dont seem to be bothered about the diagnosis. We only get seen once a year now :( If there is no evidence to back anything up theres nothing more they can do i guess. Theres just some things that they dont understand and cant put a name to. ive come across a company called swan uk who did some videos on the local news channels for children with unknown conditions, they have some good videos on youtube and you can join up if your child is undiagnosed.

http://www.youtube.com/user/SWANchildrenUK

Think I done a tired rant again, know it didn't seem to have a purpose but I was just wondering how you all dealt with uncertainty, never had patience, like to get an answer quickly and these appointment after appointment of (What seems like) nothing are niggling away at me. It is that might be, might not be that is annoying the amount of What If Questions that although are not helpful just keep coming up and sit pondering them - sending myself doolaly

Thanks littlemisszozo you seem to be where I was a few years back, they started saying she was delayed at 9months, seen her again a year later again still delayed see her again later and nothing really got in motion till last year of nursery with a speech therapist x Hope it starts going faster for ya x

Thanks for the links will have a nosey :) x Those docs do like to see the confused look on your face though

Hello Misslittlezozo,
My daughter is also facing the same problem of high lactate and slow development.
Please help me as what medications did help him and which treatment should be tried??
Please do reply as my daughter is still undiagnosed and We are still confused??