To try again or not?? Advice needed please....

[proudestmummyever]

Hi guys, well I have a 7 yr old dd, healthy from prev relationship and a ds, 2 yrs who has a genetic disorder, no name for it, but involves severe epilepsy, hypotonia, which is low muscle tone , so it may be ages until my ds walks....has moderate brain damage and global dev delay too, also I have hd 3 mc's to my partner of 6+ years(ds's daddy) saw geneticist who thinks Jack's condition has been a one off and totally unrelated to my 3 miscarriages and just bn unlucky with mc's too and tht if we tried again thn less than 1% chance the same thing happening again(jack's condition)

Still cant help but be terrified tho...wat du all think?

was he able to give you any more information about what the condition might be? does one know how it is inherited? is it always as bad as it has been for your ds or is there a chance, if it is inherited, that another child might get off more lightly? have you ever had any explanation for your miscarriages?

Why does the geneticist think the Jack's condition is not related to 3 miscarriages? How can he be so sure of the 1% chance?

Are you asking people here to help you decide if you should get pregnant again? I think that is so personal, and to be honest most people will never tell you what they would do in your place because everyone's circumstances are so different.

Personally, (sorry I tend to be brutally honest about things), I would not try a third pregnancy because I couldn't cope with another child with SN, and I want to give all my children 100% of myself and my energy as well as look after myself and my DH.

I would let my decision be dependent on how much information I could get out of them beforehand. And I would really try to push for information.

Hi, course I am not askin other ppl whether I should get pregnant or no, it is of course a personal choice....just wondered if any1 else had gone on to have more kids after SN?

And Jack has a disorder tht has affected his chromosomes....he has a duplication of chromosome 6 and some of chromosome 12's material has attached itslf there 2...and the geneticist sed it is a very unlucky one in a million chance it has happened and he was very thorough...happened during cocnception, and he told us it is ttly unrelated to my miscarriages....and tht I have prob no chance it ever happeneing again but he said to us he could have sed tht bfore I had Jack and it happened..so he ha to say less thn 1%...

Cory it wasnt inherited at all, ths they know for sure, we have bn tested, our chromosomes came bk ok

Ok guys bear with me...I am gonna type u the letter we received after taking Jack to see the geneticist

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"Thankyou for bringing Jack to see me at the genetic clinic. The reason that I met you was to explain Jack's complex chromosome rearrangement

We know that in Jack's blood, his chromosome 6 and chromosome 12 have swapped material and then rearranged themselves, so that there has been some deletion and duplication of the genetic material in the process, especially duplication of chromsome 6 material. This imbalance of Jack's chromosome material is the likely cause of his epilepsy.

This chromosome rearrangement occured for the first time in your family in Jack since we checked your own blood samples and in these samples the chromosome 6 and chromosome 12 were entirely normal.

There was nothing you could have done to predict or prevent Jack's complex chromosome rearrangement happening. It was due to a random event that could have happened to the child of any couple.

Finally, I think I told you about the organisation known as "unique" which supports parents who have a child with a rare type of chromosome imbalance that you may not be able to identify in books or on the internet. If you do decide to join Unique there will be a registration form to complete that seeks a technical description of Jack's chromosomes. I would be most happy to supply this information. I would certainly like to see Jack again for I anticipate that we will have better tests in the not so distant future that will give a more accurate description of the chromosome changes that he carries.

At the end of our conversation, I repeated the consultant's advice that if you were to have another pregnancy in the future it would be unlikely that there would be anither chromosome change in the baby, this is because you both have normal chromosomes. However, I mentioned that some couples in your position are nevertheless anxious and choose to have a prenatal test during pregnancy called chronic villus sampling or amniocentesis. The test result hopefully results in complete reassurance yr baby has a normal set of chromosomes. Note tht the ususal type of ultrasound and maternal blood screening test for Down Syndrome would not provide ths type of complete reassurance

I shall make an arrangement to see you both next year so we can reassess Jack's chromosom rearrangement using newer tests and I shall try to answer any further questions that u may have"

Sorry sooooooooooo long, just wanted to show u all the big picture

OMG bloss I am blown away by tht

I had DD when DS2 ( with severe SN) was 8.

After talking for ages we ultimately realised that the liklihood is irrelevent ( unless 100% of course).
The ONLY issue is whether your family could cope with another child with issues.
If you can then the 'risk' is fine. If your family feels in any way fragile and the thought of another child with SN is bad/scary/worrisome then don't do it.
Because even if the chance is 1 in 1000 the risk becomes too much.

We realised that we would be fine with whatever happened and that was that.
Had we felt that the chance of another child with SN was a risk then we wouldn't have tried.

I hope that makes sense.
the issue is not the chance of a child with SN. The issue is how as a family you think you could deal with it.

Pagwatch was everything ok with dd?

BUMPING for me

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My eldest has Aspergers which is now thought to be genetic and more common in boys but we have gone on to have DS2, DS3 (both NT) and soon DS4 With each one I have watched very carefully their development, language and interaction etc looking for autistic signs but it would never have stopped me having the other boys. If it turns out that DS4 has autism at least we will have more of a head start that we did with DS1! We decided that we still wanted more children and if they were born with SN then so be it. I can remember worrying how I would cope with 2DSs when I was PG with DS2 but did, then again with DS3&4 its only natural.

TBH, I don't know if I could cope; DS2 has an asd, DS1 & DD3 nt. I always wanted 4 children but I am also now 40+ I was so heartbroken with DS2's dx initally - to perhaps go through that again. DP would probably be happy to have another child. Sorry no help, coz also a bit of a dilemma for me as well.

Dd1 has Aspergers, we didn't know she had AS until after dd2 was born, aparently there is a 30% chance of the next child being on the spectrum. Dd2 is now waiting for a dx, she is non-verbal and we have been told to expect a dx of asd/hfa.

I always wanted a large family and would love a son but the chance of having another child on the spectrum is a lot higher after having 2 dd's on the spectrum. I love my dd's to bits but i am not sure how i would cope with 3 on the spectrum and would it be fair on the dd's as they need a lot of my attention at the moment.

The thought of not having another child upsets me. I am unsure if we will have anymore but i like to think it is possible.

God I just dunnno what to do...did everyone read the letter that I typed out that we received from geneticist?

What du make of it?

I am DESPERATE for another....but soo scared, god ths is soo bloody hard

My sn dc was the third. However, having 2 siblings means that when we as parents get too old (or dead) for the care decisions, the other two dc's can share the burden of decisions.
I feel for those of you who have to choose whether or not to risk another...

Pme the geneticist's letter appears to state that you have the same risk of the same deletion occurring again as any other couple ie low. Did I understand that correctly?

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COuld you maybe wait a couple of years before deciding? Your ds is still so little and now is the perfect time to stimulate him as much as possible.
My ds is now 4, he doesn't have a genetic disorder and no epilepsy, but had hypotonia(much better now) and has global developmental delay due to brain injury.

It was incredible hard work specially at your little one's age. We had so many exercises to work on (massages three times a day for the low muscle tone, repeating physio exercises, OT exercises) I honestly don't think I could have done it with another little baby (NT or SN). The stimulation really has paid off and it is much easier now (except for sleep and hyperactivity).

Maybe in a couple of years you'll be in a better position to decide.

My first ds has a genetic disorder picked up after birth although we had many tests whilst pregnant. My 2nd ds is NT and my 3rd ds has DS (!) which again was not picked up during pregnancy. Our geneticist claims this is a coincidence! I agree with the comment that its about how you feel you could cope as a family either way. I have also thought about what would happen if I got pregnant again (not that I am planning it!) and know that despite what the geneticists have said, I would be having a CVS at the 1st opportunity.

I think it all comes down to how your family feels it would manage with a child with similar needs to your son. I do read the geneticist's letter as this would be unlikely
but all pregnancies have potential risks.

My first daughter who is now 11 has GDD. We did want more and her sister was born when she was 5. I didn't have any screening when pregnant and just hoped for the best. I also hoped I would cope if she also had special needs. She doesn't have any additional needs but in some ways this came as a real shock and surprise to me so on some level I was very prepared IYKWIM.

We will not have a third child for lots of the usual reasons (although I do like the idea of one secretly!)

Hi PME. DD1 has a genetic disorder caused by a deletion. Genetecist confirmed it was a once off event and we were also given the 1% figure. I think this is a standard figure used when they believe that you are at no more risk than enyone else (rather than disorder caused by something you may be carrying). We had DD2 last year and just tried not to worry. So far at 6 months she is doing great and meeting all her milestones. But we also knew if she did have SN however unlikely that we would handle it. No one can be guaranteed an NT child - there are so many tings that can go wrong. I think you should be reassured by the letter you received and it is unlikey another child will be affected. I think DD2 will be great for DD1. I think the benefits she will bring with her interactions with DD2 will outweigh any negatives (less 1:1 time with DD1). We are now thinking about DC3. Again we will be prepared for any outcome but will try to think positive knowing we will be no more likely to have another SN child than anyone else. Sorry for rambling on. |Good luck with your decision whatever you decide.

proudestmummy

DD is six now and has no SN or any issues whatsoever. She is very telented in the field of winding up DS2 though

( as a note I have to say that we felt DS2's ASD was enviromenatally triggered so we were also able to avoid those triggers with DD - as much to protect her health as anything else.)