DH doesn't want to pursue a diagnosis for DD, WWYD?

[FluffyPolarBear]

DD is 2years 5 months, has a global developmental delay, speech delay caused by glue ear, squinted eye, chest problems and a hip dysplasia (yes I've spoken about her before).

She's a very likable child manages fine in a Private Day Nursery, but attends a lot of appointments.

Finally saw DDs paediatrician at the Child Development Centre for the first time yesterday (23rd) and after a long talk about her, her life, her referrals and her medical history, they weighed her, measured her height and observed her for awhile.

Paediatrician has suggested we start genetics testing to rule out and underlying cause, he says he can't be 100% sure but usually when he sees a child he can usually put a diagnosis on them before the tests are conducted. I didn't ask the suspected diagnosis as I will only drive myself mad googling until the follow up appointment in the new year, but I liked him, I trust that he knows what he's talking about, and I've felt for a while (since she was maybe 6 months old) that she has an underlying condition causing all her other conditions.

I posted on chat a few days ago about DH not liking any of DDs photos from Nursery and during a chat DH said he doesn't want to go ahead with the testing. He says it's not fair to put such a small child through so much testing (initially just a blood test, a urine sample and a stool sample hardly like it's an MRI under General) as she's already had several tests conducted by different departments, it means missing Nursery time which we're paying for and I will possibly need a day off work to take her to the clinic for the tests.

When I dug deeper he said that a diagnosis isn't going to change anything, she'll still be our DD and we'll love her anyway, it won't change the way he or I treat her because we've always treated her this way. He asked me why we needed to know at all?

When I pointed out that this time next year we'll be applying for a school place for her, and we need to know so we can have the right support in place when she starts Reception in September 2019 he said that I'm underestimating her, and she may have caught up by then.

He's refusing to sign the consent forms for the testing, he doesn't really need to as it only requires one parental signature but I feel bad going behind his back about it.

I think, despite what he says, he's struggling to accept DD and that the future for her may look very different to the one we talked about/dreamed about during my pregnancy.

I need to know though, I want to put the support in place for her, get EHCPs if she needs it, get her on any medication she might need.

We need to get the ball rolling and sign the forms by Monday or the test results won't be back in time for our appointment in January, and delaying until Januarys appointment just means I'm worrying and we still don't have answers.

WWYD?

Go ahead OP and let your DH wallow. It sounds more as if it is for his benefit that he doesn't want the test done. My ds has a syndrome and I remember chatting with the genetic nurse who in conversation said that many men often find it hard to come forward for testing as they are worried that they have passed on the gene

Of course it won't change your dd but having a name to a condition may dramatically increase her chances of getting funding which means extra support. My ds was born with talipes and two other minor things which are not a big deal. Genetics were keen to do testing early on and we were shocked that it came back as something rare, but isn't common or life threatening/limiting. He did go on to have some developmental delays and ASD but the fact that he has a named, recognized syndrome means that he often gets 'fast tracked' into services. The waiting list for our child developmental clinic is 18 months, but we were seen within 3 for example. The same for the ed psych. In this climate of extreme funding cuts this has been very beneficial to my ds in getting him the help he needs fairly quickly.

I don't think it is about her not accepting her, I think it's about different approaches to how we deal with her.

I want to know, so I can be prepared for what her life might look like, so I can find the right school for her, so I can be aware and look out for any new symptoms or changes or worsenings.

But DH is the opposite, he's much more of a here and now kind of person. He sees people as they are, and treats them accordingly. That's not to say he's disablist he's not, he regularly offers his time unpaid to help a particular member of staff at his workplace who's illiterate due to profound extra needs but I think he'd rather ignore the obvious and deal with it if/when he has to.

Bearing that in mind I'm going to say to him that I need to know what's going on, and I will go ahead with the tests even if he doesn't agree - he doesn't have to do anything, I'll sort out Nursery and my work and the appointments and if he changes his mind at any time he's more than welcome at appointments. I would never ever stop him pursuing a diagnosis for her even if I didn't agree. I don't want this to ruin and otherwise fantastic relationship, I love him and understand his point of view too.

*him not accepting her

I think you're doing the right thing, OP.

And I hope you put your girl's picture on the wall. She will be thrilled. It's her. Your beloved girl. Your DH's inability to say 'why' he doesn't like them should remain his problem. Don't make them yours or your DD's.

And yes. Put up a massive photo on your wall .
:)

I am probably repeating what has already been said but would just add that we have found it very useful to have a genetic diagnosis for DS.

He is only 8 months, but likely to experience global developmental delay as well as various SN / LDs. As you say, it is nice to be able to explain why your DC is late hitting milestones to family / friends (people are obsessed with babies' development!) and may also help you access additional support if needed.

DS' condition puts him at risk for a wide range of physical, emotional and learning difficulties. While we think he is awesome just as he is, I am also conscious that we need to be on the look out for certain things and make sure the support he needs is put in place as promptly as possible.

These things are very difficult, but as another poster said 'knowledge is power'.

Difficult to justify need sometimes without a dx especially for non physical needs. And not all school are so understanding.

Ime

Zzz I don't actually agree with that, I think it could lead to an overall cause of all her other conditions which can then lead treatment of those, if there is no underlying condition then I can make decisions about treatment knowing that.

Future DC is by the by to me, of course we'd discuss it if and when the time came but atm my focus is DD, we have neither the space nor finances or time really for another DC yet.

If you don’t know what they are testing for how can either of you judge the overall benefits?

I think it could lead to an overall cause of all her other conditions which can then lead treatment of those

I have a child with a chromosome disorder too! getting a genetic diagnosis usually doesn't lead to treatment, at least not different to those without without genetic dx.
If she has GDD, 'treatment' would still be Salt, OT etc. Genetic engineering isn't that far developed that genetic disorders can be fixed - at least I dont know anybody with a fix for a child with developmental difficulties due to a genetic problem.

It shouldn't make a difference, but a piece of paper with a diagnosis will help your dd. It will be very difficult to get extra support for her without it.

Sirzy It's just a general genetics test for now, I have a suspicion over what they're looking for though.

you "can" get support without a diagnosis, but its much harder, and tbh, whats the point, if you CAN get one? It just simplifies everything.

If your child was diabetic, would he be insisting that you just treated every incident of insulin deficiency as different, and refuse to give it a name?

You see I can fully understand why he doesn’t want just a generic test unless you have had it explained to you exactly why they think that would benefit. If they are looking for something specific and you can weigh up the pros and cons then that is very different.

My ex (Dc's dad) has refused support suggested by school recently. It would possibly help DC and would not be invasive. The school have said they cant proceed without both parents consent. I am spitting mad. Even if he didnt agree there would be no adverse impact to DC. My only option would be to go to court and see if I could get a judge to make an order but that would cause me enormous stress and cost without any certainty for months. So if you are being offered non-invasive tests I would go ahead.

I wondered if it might help your dh to talk about things that could be ruled out from testing as well as the possibility of diagnosis? So it's not just about 'labeling' but also might put your mind at ease about some of the potential diagnosis.

I have relatives who have a genetic condition in the family. Two children have been affected, with the diagnosis only made after one child had died from leukemia (known to occur at a much higher frequency with the genetic condition). I don't know whether or not it would have helped to know. On the one hand the clinicians would have been on the look out for the illness so the early symptoms would have been identified almost immediately and perhaps that would have made a difference. On the other hand knowing that your child has a life limiting condition or is vulnerable to life limiting illnesses is incredibly hard. Perhaps a few more years of ignorance could be important. I think I'd be too busy worrying about what ifs to be able to cope with not knowing, but everyone is different.

I do keep thinking "what if it's this?" or "What if it's that?" the not knowing is not helping my mental health at all, but at the same time I can see why a few more months or years of ignorance could help.

Doctor did say he does want to rule out certain conditions as well. He actually he's not got one firm diagnosis in his head but thinks it could be one of several things.

Have spoken to DH and he still thinks we shouldn't do it. There are no genetic conditions in either family so DD will just be a fluke at best or at worst me or him are a carrier for something that's never presented itself in our family.

I've told him i want to go ahead anyway. If something comes up and we both need to be tested I've told him he doesn't have to go ahead with his test, but I need to know and the Nursery want to know as at the moment they're scrabbling in the dark a bit as she has so many conditions which all seem separate (obviously speech delay and glue ear are linked, as is the GDD, but her eyes/chest/hips are current separate conditions) they're supporting her well, but I'm sure if they can help anymore they'd want to, so I'm proceeding with the test with or without his blessing.

Op, am I right in thinking that you have posted about your dd and dp many times before on here? That your dp has shown you very little support at times during your relationship, and that you've posted before when he's basically left you to struggle on alone?

Apologies if I've confused you with someone else, but if you are this poster, then I would think very carefully before giving much credence to the wishes of this selfish and unsupportive man.

OP what a hard decision.

I can only write as someone who recently got a diagnosis of something I'd 'known' that I've had, since I was about 20 but didn't want to get a diagnosis as I was convinced it wouldn't change anything.

I'm now 37 and along with a diagnosis which has actually made me feel so much better about my inability to do certain things, my general brokenness and illness and mental health problems... but my recent tests show I have a lot of spinal problems and degeneration and may have a heart condition.

If I do have a heart problem I have been walking around for years knowing it was a possibility but possibly doing things that would have been seriously contraindicated. Same with my spine. I think about the last 10 years or so and how much damage I've unwittingly caused myself. I may need a spinal fusion in future.

If I'd known for sure at 20 what condition I had, I could have saved myself so much misery, telling myself although I was pretty sure of what I had, maybe it was all in my head, maybe I was just weak, maybe I was just a wuss and needed to stop being so pathetic. Pushing myself too far because 'normal' people could do that stuff. Knowing or not won't make it not so, but it might give you (and her) tools in the future to understand the way her body works and be kinder to yourselves. Or - not to worry about things that aren't actually a problem.

Slightly different but I had an issue with illness. I kept getting things like chest infections and tonsillitis really easily and all the time. Just felt something was wrong but didn't know what
I went back to the doctors when I started having night sweats, this was about 8 years after I started pleading I knew something was wrong
I was diagnosed as severely neutropenic and without treatment I would have kept getting the infections and risking sepsis. My count was so low they said I should have been in hospital and barrier nursed yet I was working full time!
Anyway diagnosis done, now I inject myself once a week and see the consultant every 12 weeks and that's it. I've had nothing but a cold in 2 years and I wish so much someone had investigated earlier

There are no genetic conditions in either family so DD will just be a fluke at best or at worst me or him are a carrier for something that's never presented itself in our family.

This isn't necessarily the case. As I posted above, we found out DS's genetic deletion was inherited from me - I'm not a carrier, I have exactly the same thing but with symptoms mild enough that I have "passed" for "normal" all my life. If you have the same eye condition as your daughter, it's quite possible that you have a milder version of the same thing that is affecting her, as may other members of your family. If anyone had asked me three years ago, I would have said there were no genetic conditions in my family but I would have been incorrect there.

And weirdly I actually felt better once I found out he'd inherited it from me. One reason was that I hadn't died as a teen, which means there's no reason to suppose he will either. But the other reason is that it no longer felt like random horrible bad luck - I really struggled with feeling like it was "unfair" and then discovering it wasn't random actually reconciled me to it. It helps that, aside from a couple of minor physical things, and some emotional issues, I have been able to go to university, get a doctorate, get a good job and a lovely partner and nice home - all th trappings of a "normal" life and all the things you hope for for your child, so I'm less worried that DS's deletion will mean his life is very different.

Geeky That's interesting because DD is also asthmatic like I am and quite badly too, my mums asthmatic but never had a squint, pattern maybe?

And if it is genetic and I've passed it on I'd like to know so I can make a decision about future children.