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?

DD1 had issues from an early age. We gradually identified more and more as she was growing up and after she had started school, but we had to fight to get people to take things seriously for much of the time. All would be blamed on something else such as the glue ear she co-incidentally had when she was younger but actually was not linked to her developmental issues. Fast forward to when she was about 7yrs old and with a bit of a struggle with medical professionals to have genetic testing for her we finally got the answers and found a genetic problem, much to the surprise of the doctor who agreed to the testing more or less to keep me quiet! Having these answers on a laboratory test has been able to access far more support and get people to listen and take us seriously than any of the other diagnoses she has. This result isn't an opinion (unlike things like her ASD diagnosis), it's factual proof of her underlying problem which leads to all of these other things. We have as a result managed to get her appropriate school provision and support and we feel she genuinely will do as well as she is able to in her education. I can not see any negatives to her having this test result and it also means for her future she knows she has a 50/50 risk of passing this on to any children she may have - appropriate support can be given to decisions in the future if needs be. We also now know DH and I are not affected by this and this means her sisters do not need testing.

I'm sure your DH means well, it's clear he cares a lot for her. Maybe he needs some time to see the positives in doing this and understand that not doing so has potential negatives. Of course it is also possible that the testing may not reveal answers, but at least you then know you have done what you can to try and understand the underlying reasons. Please show him this thread, I think it is a lot to think about for anyone but there is a lot of advice here and ways of looking at this that he may not have considered. Two people can have a different opinion and both be right because of the perspective that each sees from the start. It's only when the other perspective is clear that perhaps one answer becomes the more acceptable of the two to everyone.

I need to know and the Nursery want to know as at the moment they're scrabbling in the dark a bit

Good luck. It is tough having such major differences with a spouse, but the nursery being able to work most effectively with her and your own peace of mind are very important.

I'm a former special education teacher (in the states) and for all those saying that need is enough to qualify, I can't stress enough that having ALL the information possible about a child allows those that work with the child to work with them most effectively. Otherwise, the system is throwing money and time at problems but shooting blind. Part of what having more information means is knowing the child's STRENGTHS. Being able to advocate for a child effectively isn't just about making sure that they get services, it is also about ensuring that professionals play to the child's strengths and not underestimate what the child is capable of. More information is better, it's power.

Have you tried talking to in-laws . They might have famliy history that could help

Twitching Haven't told them yet and it may or may not go down well, they're not the most supportive people in the world.

Is your husband that much of a narcissist to make it all about him AGAIN?

He needs to realise as a parent you need to put the child's interests first. His attitude doesn't.

I completely get needing to know, I do think a diagnosis makes some things easier, and I also understand (from your dhs point of view) that sometimes it takes a long time to get fully on board with the idea of your child needing more support and the possible difficulties their life will hold.

There is a fair chance that testing won't initially lead to a diagnosis, but possibly more tests, studies and years of not knowing (there are a lot of people with developmental disabilities who are thought to have genetic conditions, but still have no diagnosis, even into adulthood)

Nursery want to know as at the moment they're scrabbling in the dark a bit Nursery shouldn't need a diagnosis to support your child's needs, they should be looking at the child, and basing their support on those needs.

You owe it to your child to get a diagnosis. We have had years of tests for our child, and having a diagnosis, means far more than you can imagine. As many on here have also said.

I'm a community paediatrician and now, when I see children with developmental difficulties, I offer genetic testing (SNP array) as the standard first line investigation. A recent study published in Archives of Disease in Childhood (sexy title, eh?) confirmed that this is the most useful testing in giving us an understanding of why a child may have developmental difficulties but that does not mean it will always give an explanation.

I offer it to parents with the following advice:

1. We may get an abnormal result that explains your child's problems. This might not mean that we change their care or support at all but occasionally it means that we get information that identifies possible health problems that we otherwise wouldn't have considered e.g. We need to do a scan because kidney problems are associated with the genetic problem and we wouldn't have known to check this out otherwise. An positive result can also help us to look at the outcomes of others with this result and use that information to inform what we think the future may look like for your child, with the caveat that all children are different.

2. We may get a normal result and I have seen this in children with very profound developmental problems as well as those with milder difficulties.

We may get a result where we do not understand the significance for your child.

3. If you don't want genetic testing right now, then that's fine. We can revisit it again at any point that you choose.

I wouldn't negatively judge a family who declined genetics but who were actively engaging in supporting their child in other ways. For some families finding an "answer" for their child's problems is really important, for others much less so. I think often the situation is as you find, mums are keener than dads, but not always.

I do think however that it's unfair for your paed to leave you wondering what condition he is thinking of if he really does have something specific in mind. I'd suggest asking again about this at your next clinic apt. Also remember that genetic testing is ever advancing, I've re investigated some older children who previously had normal chromosome testing but the newer SNP array has identified the problem. I'm sure that as time goes on the children in group 2 above may get an answer from more advanced testing. So whilst it might feel very rushed now, to make a decision in time for results for Jan apt, actually there is no real deadline.

Hope this helps and I do wish you the very best for your family.

Nursery shouldn't need a diagnosis to support your child's needs, they should be looking at the child

well yes, and I suspect they are. However, looking at the child and doing their best to met the child's needs as they are presented can leave professionals questioning what is really going on and if they are doing the best things for what is actually going on. It's a bit like someone doing their very best but with one hand tied behind their back.

I hope that your DH is able to reconcile himself with your decision op.

I think there are often useful aspects to an "underlying " rather than symptoms based diagnosis because it means you can consider additional options and details based on what is likely for that dx.

I have a collection of symptoms and then also a recessive condition which is sometimes symptomless and sometimes shows pretty much every symptom I have. Knowing about that condition makes be better at treating my fatigue etc as real rather than characterising myself as just not trying hard enough or lazy etc. Obviously I'm not suggesting people will characterise your daughter like that, just explaining how for me, understanding the genetics makes it easier for me to understand why I experience the symptoms I do.

I would also add to Ikea's list, that if testing comes back normal, a referral to a geneticist may lead to involvement in a study such as the 100,000 genome study or similar, and a possible diagnosis through this.

Wrt nursery, I can't think of a way that a diagnosis would make a difference to the support they give - if a child has problems with speech, mobility, feeding, social communication etc these could be part of an umbrella diagnosis (IYSWIM), but those individual issues would still be identified, advice from outside professionals sought and that advice worked on. A lack of diagnosis should never be an excuse for not fully supporting a child.

My ex H was like this and in the end was actually quite attacking and aggressive towards me for pursuing the diagnosis. He made me promise I would give ds a year and therefore a chance to develop normally. I agreed but the more I read the more I New that early intervention was key and within two months I went against his wishes, took ds to the GP and told the school to move forward with it - they’d been wanting to. It was all horrible to be honest and he made it MUCH worse and I still feel angry now almost a decade later. Ds was diagnosed very quickly with autism, dyspraxia, hyper mobility and sensory processing disorder.

knew not new

Nursery are very supportive and do their best to help her but there are some things they cannot get access to funding wise without a diagnosis, the wheelchair/pushchair was a bad example, but a better one might be that there is charities they can apply to for extra funding or to have specialist people come to the Nursery to work with the staff or with DD but they can't get those without a specific diagnosis.

I do worry you are placing a lot on this genetic test when if it does show anything it is highly unlikely to be something which has a significant impact on things.

Given it is pretty rare for nursery age children to be at a point of having specific diagnosis I am intrigued as to what kind of funding they are making you think they can access.

You should be able to get everything based on need.
But a few blood tests now won't do too much harm and might give some answers. The Microarray picks up a lot of deletions or duplications.
If nothing identified and also when it is ... it is still about presenting the individual child s needs. E.g. my d's has diff needs to chikd with same syndrome due to car. But know ing the syndrome is v helpful.

To be honest funding for specialist equipment with or without a diagnosis is pretty tight nowadays! However, getting access to equipment and therapies (nhs services) as cut to the bone as they are, are not reliant on a diagnosis. Professional input, yes, but not a diagnosis.

That isn't to say I don't think you should pursue testing, just that it wouldn't necessarily come up with answers and may not open doors to additional funding.

You mentioned earlier she has already had a lot of blood tests? are these regular ish things? Because if so I would probably hold off with the blood tests and ask for them to all be done when the next lot are done.

Ds has to have 3 monthly blood tests anyway so if anything else comes up inbetween (non urgent of course) I ask the consultants to work together to make sure everything is done at once.

Due to variation

It can also be possible, once blood tests are taken for a micro array, for the blood sample to be 'held' for future testing (eg inclusion in a study)

My son has severe autism and learning disabilities he had the microarray and they found a microdeletion on chromosome 16 the geneticists think its the underlying cause of his disabillities its quite complex in my son's case he hasent inherited his deletion from either me or his dad but people can have the same deletion and have few or no symptoms or even more profound symptoms .

but there are some things they cannot get access to funding wise without a diagnosis

this is a lie. My DD has a statement (old version of the EHCP) and 1:1 at nursery without dx. We had to change nursery to get support though. Some nurseries are just more inclusive whilst others try to push children with SN out.

apart from that, your DD has already a dx - global development delay.

I think the expectations you have that come with a result from microarray testing are absolutely not reasonable. Chances are they will find nothing (geneticist told us that in 70-80% of cases in children they test with developmental disorders, the genetic testing comes back normal). Often ,if the find something, then it is so rare that the syndrome doesn't have a name but is it named by its location (which gene, which position). We have a dx like that. very little known about it and nobody ever asks or cares about it. DD gets help out based on her ASD, developmental delay, speech delay.

by any means to ahead with genetics but even if it brings up a result, it won't change much if anything.

My DS got into a mainstream school with a specialist ASD resource unit because he had a Statement. End of. Places were very limited.

I'll be honest, I haven't read all the replies, so I may be repeating something someone else has already said! My DS has autism: it became apparent around 18months that something wasn't quite right. My DH and I discussed it and he didn't want to start the process of assessing/diagnosing what was wrong as he thought it may negatively impact on DS's prospects re. getting into good schools, etc. However, by 2yrs it became apparent that his ASD was severe. We were very lucky in that his diagnosis was quick: he was assessed and given a diagnosis of ASD just after his 3rd birthday. Best thing we ever did: it got him into an amazing nursery, and then into a fantastic ASD specialist class within a SEN school. He's 9, still non verbal, but absolutely loves school and is thriving. The facilities he has access to are beyond fantastic: his brother is rather jealous!! I have met parents of children who are less severely affected by austism who do not want their child 'labelled', but ultimately I think that not pushing for a diagnosis is more about what the parents want. I heard a really sad story a couple of years ago: at a party I was talking to a teacher who told me about a boy in her class: probably had ASD but his parents wouldn't let him be formally diagnosed ... the teacher said he was very disruptive, became very agitated and upset every day, and as a result the other children resented him, and she said at times she felt like she hated him (she had had a few drinks when she told me this). I was half upset for the child, and half angry with the parents! I can't see any reason why any parent would put their child through that! We have done what is best for our son, and I don't regret it for a second. Any help your child needs, and any support you need, will be more accessible after diagnosis. I think your DH needs to do what's best for his child. And PS - my DS is happy, funny, clever - and party that is due to the wonderful SEN school he attends.