Come talk to me about genetic disorders pls?

[caitlinnjacksmummy]

My Ds1, 17 mnths has genetic disorder,no name,but chromosome 6 attached itself to chromosome 12 during conception and in this process chromosome 6 lost some of it's equalities, resulting in DS1's probs....severe, hard to control epilepsy, global development delay, brain damage to left and right temporal lobes, hypotonia, cant sit unaided etc, but nearly there now. We(as in myself and my partner) got blood taken to further investigate...my partner's only got taken last week as he was at work when mine was taken at appointment, so gotta wait 3 weeks for his results...mine came bk fine.....thank god!! But obv gotta wait on partner's results, altough paed thinks they will be ok too , even tho I have had 3 early miscariages at same stage Jack's probs(genetic disorder) would've occured in the womb...(miscarriages to DS1's dad too), I also hav a DD,7 from prev relationship. Totally healthy btw....can smeone shed some light on genetic disorders etc, and we are wanting to try again sometime in future for another baby, but obv VERY VERY apprehensive at mc and genetic disorder, gonna wait for DP's results and til Ds1 is a bit older so we have clearer picture?

[slightlycrumpled]

caitlinjacksmummy, my ds2 has a genetic disorder, he is missing part of his chromosome 22. Myself and my husband were both tested and were both okay.

I believe it is something that just 'happens' at the moment of conception, right there and then the dna is decided upon.

It is mind boggling to think that all of his difficulties and poor health was arranged before he was much more than an egg!

When we got our results the geneticist informed us that the risks of the same happening again if we had another child, were the same as any other couple who had never had a child with the condition.

Sometimes I look at him and think how he adds new meaning to the 'something missing' term, and wonder if he knows this.

I hope your ds continues to improve and you get the results soon. Waiting is a horrible thing.

[caitlinnjacksmummy]

Hey guys, thanks, so, if u don't mind me asking, wha types of probs do yr dc have? And slightlycrumpled understand what your saying but if dp's results o come bk ok then why have I miscarried 3 x also? , so confusing and not fair

[slightlycrumpled]

DS2 has a moderate hearing loss, a type of cleft palate therfore very severe speech delay. He didn't walk untill he was two and has hypotonia. He had a hernia (now repaired) and a comprimised immune system which led to countless severe infections that led to him spending most of the first eighteen months of his life in hospital. He also has lots of other minor problems.

He will also probably have some kind of learning disorder, we are unsure at this stage to what degree.

We are however, so so lucky. Over ninety percent of babies born with this condition have a serious heart defect and some of those don't live past their first birthday.

Personally I don't believe the genenticists have all the answers yet cjm. It is a relatively new science and maybe links exist that they have yet to discover. My sister in law lost a baby twenty weeks due to a serious heart defect and that the baby was missing other internal organs. I have often wondered if there was a connection currently undiscovered. This happenned nearly eighteen years ago now, and the testing wasn't around then for the condition DS2 has.

I am so genuinely sad for you, it is hard to reconcile yourself with the unfairness of it all, particularly with the recurrent miscarriages. Have you had the full genetic testing done or just for the problems your little boy has?

[caitlinnjacksmummy]

Soooo hard , Jack can't sit unaided still, just turned 17 mnths, nearly tho, just about, and he rolls, can slow commando crawl etc, now trying to say "mum" "mummy" etc, and babbles....am just frightened about "the not knowing" cos he is so wee yet....and I googled genetic disorders and apparently a high percentage of women who miscarry early is due to a genetic disorder of some kind , interesting, if dp's results come bk ok nthing else to be done as far as we believe

but if comes bk with something, then we will b spoken to in detail by paed and geneticists and given a percentage of the chance of it happening again.....but in early pregnancy, tests can apparently b done the paed sed (am taking this to be an amniocentisis)???? But I don't see th poin tbh, because if it's gonna happen again it will. With or without tsts, u know? It just means we know if another baby has same or not really....actually, my aunty, she i nearly 60 now, she had a perfectly healthy boy(my big cousin) then had a wee boy with severe heart probs, who sadly died at age 2 n a half, so you just never know? So would any of u consider having more kids? Or are u too frightened like me, of what will be? Is there nthing they can do to stop this happening during early preg? Clutching at straws I know, .

But medicine in years to come who knows? But prob be too late for us having more kids sadly, although I am not saying that I am defo wanting another kid but would have to see how Jack is going to be ?? That would not be fair

[Mitchell81]

I hope you are able to make the decision on whether or not to have another baby, it is a hard choice.

My DD who is 7 was born with an unknown genetic syndrome, nothing has been found in any tests. She was born after antenatal scans said a perfectly healthy 'normal' baby. She had dislocated knees, hips and elbows, cleft palate, fused joints in her fingers. She now also has scoliosis, epilepsy and severely developmentally delayed. Unable to move her legs and limited movement in her arms. Unable to sit up unaided and uses a wheelchair.
We now also have two DS, Ds1 is 2 and DS2 is 13 weeks. We were told a 1 in 4 chance of it happening again, so pregancies were a worry but had lots of scans at the end so they could see the limbs.we had a good idea that everything was ok.

I would like another child but have started to think that we couldn't manage if it happened again. Not with 4 children and also maybe its the female gene that is affected. But will probably never find out.

Hope DP results come back soon

[Mitchell81]

Fio: yes but we wouldn't want to find out it is the female gene would we??? It may be that any child you now have will be fine but taking another risk, as much as I love and adore DD, how would you manage two physically disabled children?
Will you have more children?

[Glitterknickaz]

DD has a mutation of the EYA1 chromosome. It's the same syndrome I have and I had a 50/50 chance of passing it on with every pregnancy. The mutation leads to hearing impairment, branchial fistulae, pre auricular pits and kidney abnomalities.

Sadly I didn't realise there is actually a 1 in 12 chance that this syndrome could cause a complete absence of kidneys until I lost a baby at 22 weeks last year who had this syndrome. She had no kidneys whatsoever.

I find it quite hard to deal with that if our children end up with this syndrome its definitely come from me - and the fact it led to one of our children dying is hard too.

The 50/50 has borne out. The boys, our first two children are unaffected but the two girls I have had (one of which died) both had it.

[Mitchell81]

Glitterknickaz: sorry to hear about your little girl

Fio: I would love more children, but will need a big gap now as both boys would have to be able to do things for themselves. So I don't know as life will be so much easier when the boys don't need buggies etc and starting from the beginning again with a new baby. ???

[disneystar]

i have just had a baby 5 weeks ago he has crouzons syndrome a serious heart defect totally deaf in one ear and impaired hearing the other side he cant move his neck or head to the left kidney probs and 2 hernias,we have many years of surgery ahead of us
he has to have craniofacial surgery as he will be disfigured as he grows also he has to have bones re set in his skull to allow for his brain to grow and no pressure there

it is is genetic we were told it was a 50/50 and i have 4 boys and 3 of them have it
first one was a suprise as only 1 in 300,000 have this second baby they realised and checked genetics but still wernt told the fact just unlucky
we lost our little girl with this
3 rd baby was fine and still is

i know how you guys feel some days i feel its so unfair not for me for sam
its going to be a hard long road for us all as a family but i love him to bits hes my star and we will manage whatever crops up

[Mitchell81]

Disneystar: Do all 3 of your children have the condition as badly? Sorry that your DS will need to have surgery, but as you probably already know they recover so quickly and after afew days as if nothing happened. How are you finding life with 4 kids? Congratulations on your precious little boy.