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

Okay, so your loving DP has said that in the event one of his kids is disabled he would be out of there and you would be left to cope alone?

And you could not cope and would rather abort than have a disabled kid?

What happens if the child is genetically healthy but is injured in childbirth and ends up dependent on you for life, or later contracts meningitis, or is hit in the head by a cricket ball when they are 10 years old?

These are horrible realities of parenthood that we all pray will not happen but accept that if they do we will be there. You do for your kids.

Sounds like you two won't.

I think you both should consider getting a labrador.

It is shocking that you asked the child.

OP I have been through IVF myself so I know how obsessed you can get and how reason and rationality can fly out of the window, but you were totally out of order to ask a 10 year old what is wrong with her. You really need to stop harassing her and her family over this. It’s none of your business.

And frankly your husband’s attitude to disability is disgusting, I would be rethinking my decision to have a child with him.

If you often take statements literally and frequently don't understand what people actually mean, you could be neuro divergent. In which case, you yourself are possibly carrying a "genetic disability" you may pass on to your child.

-Sincerely,
The late diagnosed ADHD daughter of an ADHD mother and ADHD grandmother.

PS. Don't have a baby with a man who will leave you if the baby isn't perfect.

Pps. Don't have a baby if you can cope with extra caring responsibilities. They're not accessories.

So she struggles with talking but you've sat her down without her parents to discuss her diagnosis presumably without their consent? And you told you sister you needed to know so you could abort a child like her daughter?

Wow.

You need to ask yourself if you have all the screening and your child is disabled anyway. Mine way. Tons of scans cos he was big. Labour at 35 weeks. EMCS. Born blue. Bowels in lung cavity. Op at 13 days. In and out for ops for 18 months. Mosaic trisomy genetic condition. Tube fed. O2 needs. Sometimes you just don't know until they're here.

Even if you knew the condition, and it could be tested for, that does not mean that you wouldn't have a child with a disability. I had IVF, and my DS has an extremely rare genetic syndrome that affects every aspect of his life. This was not suspected until a few months after his birth, and it took many years to get a diagnosis. It is a "de novo" genetic mutation, which means that we did not pass it on to him. There was no way of predicting this disability before his birth.

Please do not consider having a child unless you both accept that you (as with any parents) might have a disabled child. What would happen if you had your "perfect, healthy baby" who then has an illness or accident that leaves them with disabilities?? Would you hand them over to social services because that's not what you wanted? Sorry to be so blunt but I really hope that you and your DP think long and hard about whether you should continue with the IVF.

You don’t need to know, it’s not your business. I feel sorry for your DN.
If you have concerns about inherited disorders get genetic testing for yourself.

If you'd ask my ten year old child after I made clear I wasn't going to tell you,and it's because you think children with that condition should be aborted,I'd definitely write to your consultant...but you might not like the letter .

You are pestering your sister and your 10 year old niece about her condition because you want to abort a child like your niece. I don't think you are suited to becoming a parent, and your partner also shouldn't have more children with his views.

Maybe you should offer to care for your niece some time, since your sister has to do it full time.
That would be a really nice thing to offer.

You asked a 10 year old, who has trouble talking as well as some other difficulties, what’s wrong with her?? Wow. Just wow. If I was your sister I’d run a mile.

I’d be surprised if your sister ever speaks to you again. You’ve basically told her you think her daughter should have been aborted.

This is absolutely none of your business and you may have a disabled children entirely separate to this condition. If you cannot cope with a disabled child, you should not have children. It’s fine for that to be a reason but you shouldn’t go into a pregnancy if you aren’t prepared for different outcomes

And what was the opener about “ so not cheap.” ( re the ivf). We know it’s not. Why was that an opener?

You really sound monumentally selfish and overly detached from the emotional aspects of this whole parenting thing.

My heart is still breaking thinking about how that conversation with DN must have gone.

My DH was once asked by a drunken friend what I was like in bed. His response: “why don’t you ask her yourself if you think that’s an appropriate thing to ask. “ Even in his drunken state the guy didn’t assume DH really meant him to ask me . He meant “ you are way overstepping.” I suspect your sister meant something similar.

I think it's really unusual not to share information like this within a close caring family .
I can see why you want to know- maybe your sister could at least say if its an inherited genetic risk from your side of the family.
However you can't make her tell you and obviously nieces doctor wont disclose any information to you .
Ultimately you will have scans throughout your pregnancy and there is always a small chance of having a child with a disability.

A lot of sisters would share it; but clearly OP’s sister doesn’t feel comfortable with her family knowing. I can’t see she would take that approach if she felt there would be compassion and support.

I suspect you have always pushed boundaries with your sister all your lives and this is her asserting control over her boundaries with you in order to protect her daughter from her overbearing family. She’s your sister so she already knew you were thinking you would’ve aborted a child like her daughter even before you voiced it aloud.

if you can’t see this maybe you have an undiagnosed disability or personality disorder yourself

I've only read a couple of the pages of the pile on, but I don't think you're being unreasonable.

To be honest I'd struggle to stay in contact with a sibling that wouldn't tell me something about their families health that could affect mine or a future unborn child's health. Even via a letter to the consultant where they didn't give permission for me to know.

Given you're having IVF that can be genetically tested, I think your sister is being very unfair here.

Basically, you want to minimise your chances of having a disabled child so you can ‘keep your man’.

Your attitude is bang out of order. Fancy asking a child a question like that, and fancy expecting to trace the consultant to ask them to breach medical confidentiality.

Disability, you say? That’s a broad spectrum in itself! Mobility? Learning difficulties? Blindness? Deafness? CP? Neurodiversity? Down’s Syndrome? Lifelong health condition? Inherited? De novo? Congenital? Acquired? Accident? Illness?

I’ll tell you a couple of things. I acquired a disability in early childhood which is irreversible - I‘ve lived with it half a century. DH was born with a lifelong health condition but we only found out after a catastrophic event after both his parents had died. He’s fine, thankfully, if rather frailer than he was. It does demonstrate, though, that some conditions just don’t appear until later in life.

But in your eyes people like us are nothing, eh? My parents didn’t abandon me but supported me without weeping and wailing and feeling hard done by. I didn’t abandon DH for his condition, I cracked on, and we pulled together as a family.

Remember your attitude when you’re old. Because most of us, if we’re lucky enough to live to old age, will live to have failing eyesight, hearing, mobility or memory in some degree or other. That’s called being human. Disability is a full part of the human condition. We’re not an alien species!

Hi OP,

I'm really sorry, but I have to agree that you are getting this all the wrong way round.

I'm a geneticist and the answer to this is not to ask what your DN's condition is. She probably doesn't know, as there is probably no test for it. She just is the way she is.

The are dozens of different things that could go wrong with your child, and some are genetic and some will just happen. If you plan to have a child, then you need to have the resources to raise a child with problems. If you can't do that, then you shouldn't have a child.

If you feel really anxious about that, then you should talk to a clincial psychologist about your anxiety, or a financial advisor about your financial planning. Talking to your DN is definitely not the answer to this, and definitely not to her doctor either.

The thing that worries me is that you don't have the judgement to spot this. That is a concern if you are trying to have a baby. I think it would really be worth talking to a councellor of some kind.

Good luck.

YADNBU
I think your sister is selfish and unreasonable in this regard.

I can't see any reasonable logic why she wouldn't tell you, particularly as the genetic condition is very obvious.

It's very strange secretative behaviour, even more so because of your circumstances and that you are siblings!

Probably don't want to tell as your to nosey!! You don't need to know anything well maybe if it's genetic so why not just ask that then stop.

We most often don’t know what genetic illnesses are in our families, and there s unlikely to be a way of finding out. I think you are unreasonable for pestering to the extent you are - although I get why you are doing it. It’s DNs business not yours. However if there is a life- limiting or disabling genetic condition in your side of the family that your sister knows about and is not sharing, that would be disgraceful. I might be tempted to tell her that you are sorry you have had to pry and you will stop but you are assuming that were there a serious genetic condition in your side of the family she would tell you, because to keep it quiet would be completely unfathomable and unforgiveable.

Even if your niece does have a (known or suspected) genetic condition it’s entirely possible not to have a specific named diagnosis to share even if she (or her parents) wanted to. The Syndromes Without A Name website has some useful resources: https://geneticalliance.org.uk/support-and-information/swan-uk-syndromes-without-a-name/#:~:text=What%20does%20SWAN%20or%20being,to%20identify%20its%20genetic%20cause.

Other issues with the posts have been covered by PP but @LovingPurpleBiscuits given the concerns mentioned in the OP I assume you and your husband have already had full genetic karyotyping done and have asked the clinic to PGT-A test all embryos?