Could I just ask??

[catalicious]

What exactly is a geneticist (sp?)

And what do they do??



Is it something like they test both parents to see where the disability has come from.... Or do they just test the baby/child???

Just curious is all??

[Tea Lady]

It's someone who is an expert in genetics and how genes work to pass on certain conditions. The person you'd normally see if there's a risk of a genetic condition in your family would be a genetic counsellor - they can test one or both parents and / or the child and discuss the results of the tests with you and explain their implications.

HTH :)

[catalicious]

It does help thanks...

So why would you want to know???

Just so you can tell your bubs when they get older that they have or their sis bro has a genetic condition???

I just think that I wouldnt want either of us to be in a position that we think the other is blaming us for Jacks condition...IYKWIM

[reAllytee]

I understand where you are coming from but the idea is that if there is something quite disabling in your genes you can either then make the choice not to have any more kids but also to make sure doctors keep an eye on the kids you do have.
This could save babies lives in regards to knowing they are genetically disposed to a condition which could disable them or make them ill in the future.
It also then allows you to advise you kids when the time comes that there are genetic problems in the family & its then their choice as to whether they go ahead & start a family.

Does that make sense ?

I know i would want to know just to prepare for what lies ahead.

[catalicious]

Yeah I get what you are saying.... You are full of help today thanks:hugs:

I just guess it would be a stressfull time for everyone having one done...

So hugs to everyone that has had one or has one coming up!!

[Lunar]

Tests can be done on the child or the mother and father or all. Testing ultimately comes down to diagnosis. If one recieves a diagnosis of some sort then one could then access the right services, know more about what to do in medical situations etc etc....

[catalicious]

So what kinds of disabilities or medical conditions do they do these sort of tests for...??

[Lunar]

Anything to do with the chromosomes, ie trisomy 21, 18, 13.... fragile x ther are heaps, these are just the more common ones.

For example, they can test for Down syndrome but not autism. get it?

[catalicious]

Yeah I get it....Me thinks...

So if Jack had a worse case of hydrchephalus could you get tested...

I by no means want him tested for this at all just wondering for other people.....

Cause they said to me that it is normally hereditary unless there was an accident that caused it, normally with older people...

[Lunar]

Unless it is chromosomal they can't test for it (I don't think... it's late, wine bottle empty gimme a break!)

Dr's could ask for testing if they think there is an underlying condition, that may be causing the hydrocephalus, but then again, nothing could come up and there still be another condition there. Not al disabilities have to do with the chromosomes.... am I making sense?... time to go to bed I think.

[catalicious]

mmm yep making sense....

I hope there isnt anything underlying, maybe ill just let the doctors sort that out....

Dont want to make them just label him for the sake of it...

Time for bed for me too i think gotta get up to early to think about...

[gremily]

In our case Maia is the only one being tested. Our geneticist is wonderful and is trying to come up with some answers to her condition. Chromosonal tests, xrays/ultrasounds, etc the works. While it still hasn't come up with anything I know he's trying every possible avenue. The most rewarding thing for me is, while we only see him every few months, he knows her by name, knows her history without looking at notes - she's not just another patient to him:)
The great thing is he doesn't just work alone on the case. There is another Geneticist who he also consults with, aswell as having a genetic councillor on the 'team'.
He explained that he might know about 10,000 genetic disorders but the other geneticist might know another different 10,000 genetic disorders. So they pool their knowledge to try and come up with something. And there are disabilites that they haven't seen before, or newer ones that they don't really have any tests for yet.
We also have our paediatrician who is suggesting things to try, etc.


I'm not holding out for any answers soon (I'd be over the moon if we knew right now, but that's not going to happen). Some ppl here will tell you they waited years before they found out their child's disability.

For us it's about knowing whether there is any treatment she should be having, if it's going to effect her future, etc and not about having some awful diagnosis thrust upon us.

HTH. To begin with it was kind of scary - you expect your baby to be perfect. But you grow accustomed to it all and it just seems normal.

[kiwibird27]

For us genetic testing is the only way we can have another baby and gurarantee it won't have my daughter's condition, without genetic testing we wouldn't even consider having another child!!! It took 4 months to isolate my daughter's defective gene's and they knew which one they were looking for - it is VERY involved.

It was also the final confirmation that the diagnosed condition was in fact correct.

Our disorder is genetic recessive like most of them, so both my husband and I have a faulty gene, shared blame

HOLLYWOOD - I know what your saying, it helped knowing both my husband and I were to blame....... however eventually you realise you can't blame anyone cause it wasnt possible to know!!!