To want to know the condition DN is diagnosed with? Is there a way to find out?

[LovingPurpleBiscuits]

Going through IVF at the moment, DP already has 2 DC from a previous relationship so it’s being funded privately and isn’t cheap.

My sister has a little girl from her marriage, now aged 10, but she is no longer with the father.

DN very obviously has some sort of condition, she struggles with talking and walking and all kinds of things I’d expect a 10 year old to do my DN can’t. But Sister has never shared her diagnosis with us, saying that it’s DNs information to give out and she only tells people who need to know. DN is lovely, polite, happy, well loved by my sister and is happy and settled at a fantastic school.

Now usually I’d respect this and not push it out of respect for my sister who will have her reasons for not telling us, but if it’s a genetic condition that I may carry the gene for my consultant would like to know so it can be tested for as early as possible, I also will not cope with a disabled DC so I want to mitigate the risk of that as much as I can – DP has said he would not cope with a disabled DC on top of his 2 already, so I’d be left to bring up a disabled child alone, I just cannot do it so would choose to end a pregnancy if it was discovered during pregnancy.

Have told Sister this and that I need to know for IVF and she just shrugged and said it wasn’t her place to tell me. I asked her Ex-Husband but he also said it’s not his place to tell me and it’s up to DN (the Ex-husband is involved with his DD, but not often so I’m not 100% certain he even knows as they split up when DN was tiny (under 2) so if DN was diagnosed it could have been after they split).

I’ve asked DN but she doesn’t seem to know what I’m talking about – so either Sister and Ex-BIL haven’t told her or for some reason DN doesn’t want me to know – I know there is definitely a condition of some sort (whether genetic or otherwise) as my sister would tell me if there wasn’t a condition to stop me asking, so there obviously is something.

My parents also don’t know and get the same answer from Sister when asked for the condition name.

I’ve asked sister for DNs doctors name but she just said she saw a general paediatrician and she can’t remember the person’s name. Is there any other way I can find out? Obviously, I know I can’t access DNs medical file, but I just want to know if theres a risk my own DC could be affected in the same way – I love DN and it would not change how I feel about her, but I also couldn’t cope with a disabled DC in the same way my sister does, she makes it look easy (which I’m sure it’s not). Sister also does it mostly alone as she won’t ask for help with DN saying DN is her responsibility – as in my parents babysit about twice a year for parents evening only, although Sister will ask her Ex-ILs more than my parents so maybe it’s just sister doesn’t want to ask my parents?

I just want to know so I can make a decision about moving forward with IVF

Jesus wept !! There’s a possibility there may be a genetic defect that OP can pass on and you just want her to ignore it and crack on with IVF ? The consultant will want the information to make sure it’s among the things they do routinely test for, so that if not they may be able to arrange additional screening. She hasn’t gone about things the right way and her sister has to take some of the responsibility for that, but OP is trying to ensure the best for herself and her baby. Can’t believe some of the vitriol and shit advice here.

I’m disabled myself. Genetic and hugely impacting every area of my life. My comment was anything but suggestive of eugenics, how dare you. You have only to look at the nature of this thread to realise that when l said ‘perfect baby’ l meant without disability. No mother would wish any kind of disability on their child and we all hope for the best and that’s all I meant - doesn’t mean we love our children any less whatever happens. I haven’t assumed anything, you’ve just decided to misinterpret and take it personally. It’s time this thread was pulled.

Maybe it is nothing genetic maybe it's from her fathers side. It is also absolutely NONE od your business and you don't NEED to know. Even if its not genetic you could get pregnant and have a child with an acquired disability in utero or at birth. Then what? Abandon your child because they are disabled? Easier not to have children as it genuinely is a complete lottery unless you pay for enhanced testing.

I know plenty of families with children who have disabilities who have full and meaningful lives.

This is not a reason not to want screening if you suspect you may pass on a life changing condition. Of course it’s her business and her sister could mitigate her obvious distress if she wanted to.

And your point would be…………?

Asking a 10 year child what her disability is seems very odd the more I think about it and putting it in a public post is even odder. If the OP does go on to have a child, how would she feel about the child being asked a similar question in the future - not necessarily about a disability but a personal and intrusive question - like 'what kind of IVF did mummy and daddy use ? or how much did you cost ?'

Ever stop to think that it was asked out of desperation because her own sister won’t disclose the condition even though it may affect OP ?

Genetic testing for all the known conditions can be done without the sister's information though . I think the OP is thinking that special extra tests can be done if the sister tells her the condition but this is not the case. I've had full genetic testing done for different reasons and a gene defect was found - but it was found by testing against all known gene errors not by asking family members. It's best to test your own genes rather than rely on family information.

It's possible any difficulties niece has are birth injuries or none inherited genetic disorders that arose in niece as she developed or chromosome or partial chromosome disorder - or something from fathers genes - which would have no impact on any children OP has or they don't know fully what the problem is.

I think its why genetic testing often/usually comes with genetic counseling as it's private medical information which also impact wider than the patient.

Op has no recourse to get this private medical information other than to ask nicely - and both parents seem to be on same page that's it private. I do wonder if there is more going on because it's not normal to question an 11 year old on what genetic condition is making them different to other kids.

DP has said he would not cope with a disabled DC on top of his 2 already, so I’d be left to bring up a disabled child alone

You could have a disabled child for lots of other reasons - are you sure you want a child with this man?

Did you have this prenatally? Our genetic test results took 6 months, I gave friends who waited well over a year. Microarray testing can take a a looooong time. it's completely different to other blood tests. It's not only expensive but also had huge limitations in prenatal testing for that reason as in many cases as results often take longer than the duration of a pregnancy. and then you have all the microdeletions etc of unknown significance.

I think we’re all assuming that was why, yes.

But she can pay for genetic testing if she’s worried.

Ever think Dsis might not really know anyway?

No - it was not done pre natally it was for a medical condition in ds1 that sometimes has a genetic link and sometimes does not ( Epilepsy) and yes it took a long time to get results back (12 months) which were nothing known to be associated with Epilepsy and a recessive gene for a kidney condition ( which they were not looking for but it came up) . I have friends who have had micro deletions identified that might or might be the cause of their child's disability and the studies to determine this are still ongoing after 5 years since finding the microdeletion. I will tell ds2 about the recessive kidney gene when he is older . If the sister knows for definite that her dd has a testable genetic condition that is linked to her side of the family and that can be inherited then yes it would for the best to say what it is but maybe none of the above is the case and she is just upset about her dd being questioned.

That’s exactly how I interpreted it.

Perfect = without disability.

That’s absolutely not ok.

You know what I meant and to insinuate otherwise is absolutely not ok either.

Yes, maybe she doesn’t know, if a clear diagnosis isn’t possible.

I have literally no idea what you could have meant other than what you just said. And my objection is that you assume all mothers feel as you do, which I don’t.

I don’t assume that all others feel as l do. That’s your interpretation. I’m coming at this from the pov of being substantially disabled myself and wondering how any prospective mother could take the chance that their child could be similarly affected if there was the slightest chance it would happen and there was any way to prevent it. Screening is our best option.

My own mother admitted that if testing had been available at the time she was pregnant with me, and the birth defect had been discovered, she may not have continued with the pregnancy, but that things being as they were at the time you have to concentrate on what’s in front of you and do the best you can. I admire her courage in answering my questioning about it honestly. I apologise if you misinterpreted my use of the word ‘perfect’ - maybe I could have expressed it better, but your inference that I’m in any way in favour of eugenics is utterly offensive. So many people on this thread seem to be discouraging the use of testing to screen out disability without a thought for the consequences of severe disability, for both the parents and the child. Not everyone is equipped to handle it and I’ve seen first hand the consequences of that. If nothing else the OP is honest with herself.

My son is perfect to me, but his life would be better if he wasn’t disabled. He wouldn’t be sick and in pain all the time for a start-

pointing out that being disabled is actually horrible a lot of the time, and saying you would avoid it for your child if you could, it’s advocating for eugenics.

pointing out that being disabled is actually horrible a lot of the time, and saying you would avoid it for your child if you could, it’s advocating for eugenics.

Sorry, but this doesn’t seem to make sense - did you mean to say is or isn’t advocating for eugenics ?

ISN’T eugenics- sorry!

Thanks. I’ve similar experience to@Rosscameasdoody and was going to post along the same lines as yourself. Thank you for clarifying.

Physically perfect, as in without birth defect which will cause a lifetime of pain and difficulty. Is that clear enough for you ? No mother I know of would wish that on a child if there was a way to avoid it. That’s not eugenics - wanting to screen out unnecessary pain and suffering is not the same thing as wanting to create a master race. I think you know that.

I guess the fact is when you’re thinking about genetics/future disabilities when family planning you’re thinking about a hypothetical baby who does not exist yet whereas when they’re a fully formed human being who you love endlessly and would give your life for them it’s a whole different story and so in the former I can understand wanting to know about possible conditions that could be passed on without seeing it as a criticism of my own disabled child. However, pushing for someone’s personal medical information when they’ve clearly said that they won’t share it and then to go ahead and ask the child is abhorrent. Surely it could’ve been asked far more tactfully. When I had fertility investigations I knew medical history would be taken so just asked my family if my patents/siblings knew of anything in the family history I should share such as hereditary/genetic conditions. I wouldn’t have dreamed of asking my brother what’s wrong with my niece directly (she’s ND but a diagnosis has never been shared with us) I was confident that he would have told me anything he felt I should know.