can anyone suggest a good genetics website please

[anonandlikeit]

I know i'm mad, as I'd be the first to advise against googling but.... ds2 has had bloods taken for genetic testing.
He is 6 & has been "in the system" since birth but his paed has just refered him for genetics testing as apparently he has markers that need investigating.
We had always assumed that all his disabilities were due to his prem birth but his paed recons he has some physical genetic markers.
I just thought i would while away an hour or so putting in his oddities & see what the outcome is.

Bumping for you as we're in the same boat and I too would like to know this!!

thanks, I would like a website were I put in all his details & out pops a dx..
But I suppose that would be a genetisist

not seen any like thsi , think if you ahave some idea what there looking at might be best way

No idea of specific disorders or names but.
He was prem & has mild CP, generalised low muscles tone, developmental delay & autism.
But he also has a number of birth marks, excessive body hair & strangely upturned earlobes.
I always thought this was because of the O2 pipes that he had for the first few months of his life pushing his earlobes up.

His paed just thinks that because of his prematurity we may of overlooked a genetic cause.
She also thinks he has broadly spaced teeth & a wide mouth.

I just think he is incredibly handsome

The only thing I would warnyou about googleing is you might read something and end up worrying more i did with dD and was in state worring about results ,sadly in our case what I read turned out to be DD problems

I know phoenix, you are right, its just now the possibility of it being something other than just brain damage makes sense now.
We have always been told he is not typical of a preemie & he's very complex, doesn't quite fir any particular box etc etc.

I am also hugely impatient & 6-8 weeks seems liek an eternity away for provisional results.
I would just like to have an idea of possibilities.

yeah my ds is the same to,have ruled out dd problems but were currnetly waiting for Great Ormond Street now ,he ticks boxes but in lots of other things to , so can understand wanting to know.but this time I am going sit back and think hes still my ds

I think if we had been looking at dx a few yrs back i would of found it harder but he is 6 now & very much his own little person so I feel the same, whatever the dx he is & will still be my ds.
But for some strange reason i'm still so impatient.

its the not knowing thats is the ahardest thing ,guess since they ruled out Dd problems she has a1d1,iga,igg defciency and brochectisis ,Im like well can deal with anything else ds decides bring to the table

only other thing can suggest is googling the indivualthings see if theres a common link

I've tried typing them all in but can't get anything to come up.
I guess I'm just going to have to keep waiting for Adenbrookes

Hi!
Don't google.
We did this a few months back and it nearly destroyed us with 'ifs, buts & maybes' (there is a lot of 'scary' stuff on the net) .

Wait until you get a result (karyotype).

Then if you get given a rare result (ie inconclusive diagnosis) contact 'Unique' - The Rare Chromosome Disorder Support group.

They are very speedy and search their own database & medical papers for helpful, factual, information.
They can also help to put you in contact with others in a similar situation.

Hope this helps.

Thanks Bsac, i know you're talking sense, I just have o rresist that DR Google

Whatever the result - he will still be your gorgeous little boy.

My ds1 had genetic screening as a baby and young child. He's 20 now and we still have no answers. All the genetic testing has revealed nothing conclusive but they still can't rule out a genetic cause for his disability. We are now having to consider the risk he and his siblings have of passing the condition to any grandchildren we may have.

Thanks Kiddiz, it may be that this test shows up nothing new at all. The potential impact to ds1 is something I haven't given much thought to, I guess we'll cross thnat bridge if & when we come to it.

I was just sympathising really I spent years going to a myriad of hospital appointments with ds1 everytime thinking "this time we're going to get some answers". Yet 20 years on we're no nearer a definate cause for his problems. For the last few years it hasn't really bothered me as a name won't change my son. But as he and his siblings have become adults it does concern me that it is still possible it's genetic and could be passed on.
I hope you get the answers you need. Good luck

yes the in future worries me to for my dd aswe know hers is gentic but then she already breaking rule book just by still being here

mumgoingcrazy im in the same boat asyou as well imwaiting to see a gene doc too

we to are in the same boat waiting for results from genetics. and i know we may never find out

I know its the waiting that cracks me up, but it shouldn't i know becuase he is just ds2 but well you know...

No Googling you hear. Sometimes you cant resist the urge, but you usually find something that may be similar to your child and you instantly think the worst. Definately Unique are a great place to go to. My son has a rare chromosome abnormality on Chromosome 18, he has an extra bit!! They assume all his problems due to this, but it so rare that we got no-one else to compare him to!!! We saw a fantastic genetecist at Great Ormond Street. Good luck.

thnaks for tht fio, will have a look