Private testing to get diagnosis

[ThatJadeGuide]

Hi there,

Any parents out there that have been concerned about child’s development and gone down the private route? I am not getting anywhere fast with the NHS and having the time to google and overthink is legit slowly killing me. I am exhausted and broken.

My almost 14 month old is developmentally delayed in all areas, for example still not sitting unassisted and most worryingly not using her hands and arms functionally at all, won’t grab/reach, put weight on her arms etc, all she does is hand wring, put them in her mouth and grab her feet. Not interested in toys at all. We are with OT/physio/community paed. Already had cranial ultrasound, bloods taken twice (no results yet, on month number 3) EEG and ECG. Waiting on MRI date. Nothing confirmed yet but looks like we are heading in the ASD direction. Although I don’t feel that is a reason for the lack of arm/hand use.

my question is, has anyone been in similar situation and can you recommend any legit private places that will do genetic testing, maybe MRI and generally be able to help us with what the hell is going on? We are based in the south east.

my gut told me something was a miss when she was 4-6 months.. here I am at 14 months still desperately trying to get help. Of course I have already googled but only found 1 company that would do it and then I overthink and worry we are going to get scammed.

Thank you in advance,
1 very exhausted Mum x

If you are under OT, physio and paed, had ultrasound, ECG, EEG and bloods, and awaiting MRI, it doesn’t sound like you aren’t getting anywhere with the NHS?

I don’t know if anyone does in-depth (i.e. whole genome sequencing) genetic testing privately. You could ask if the private side of GOSH offers.

It isn’t a diagnosis, but you could look at the free sessions Ingfield Manor School in West Sussex offer for young children.

If you haven’t already been referred, look at a referral to Portage too.

Thank you. I will look into those.

what I meant by not getting anywhere is that everyone we see say there’s something but don’t know what it is and genetics could still be several months away and there is no urgency in anything. I get it, the NHS are under resourced etc but this is my babies future and I have been asking for answers for almost a year. I am not being ungrateful, I am desperate for answers and my mental health is suffering as a result.

Even if you go private, genetic testing isn’t a quick process. Some wait years for answers from genetic testing. And some never receive an answer. Array CGH testing is quicker, although can still take time, but whole genome sequencing can take a very, very long time and some never receive answers.

For many, genetic answers doesn’t change the support etc. patients receive either, so I would try to avoid pinning all your hopes on that.

Some parents find counselling helps.

You could also look at the Rainbow Centre in Fareham.

DD is young, but you can still look at therapies. Have you considered requesting an EHCNA. Don’t be put off by people telling you DD is too young. Under 2s can be given EHCPs.