To think the paediatrician could have told us better?

[TheLastChance1]

Hi all,

My two year old son (turned two in January) can't walk, speak and we thought he was on the autism spectrum so we had an appointment with the paediatrician in November and was referred to physio and bloods were taken. He told us at the time he had hypermobility and low muscle tone, GDD and was severely delayed and to come back in 6 months and he'd look into a ASD assessment.

We had physio in December and it was a video call and the physiotherapist was like oh yeah he'll walk, his tone is normal we're discharging him.

By February there was no improvement so we called the paediatrician to re refer him to physio again and they booked an appointment to assess him and see if he needed physio again.

I wrote a long list of his mobility problems, speech issues and possibly ASD issues so we sit down in the office he asked how he's been so we explained and I said oh I did write a list and emailed it this morning and he said oh I didn't need to read it [name redacted] has 16p11.2 microdelection. it's a rare chromosome disorder that can cause mind-serve learning delays, disabilities etc and it just completely threw me. My sons bloods were done months ago and I naively assumed they were okay, no news is good news (the saying goes) so I asked why we weren't told sooner and he said because it was bad news he wanted to tell us in person hence booking this appointment and I was like well actually we called for this appointment so if we hadn't when would we have been told. Obviously we had a lot of questions but he couldn't answer them and told us we'd have to wait to see the genetics team.

I don't know I'm probably being a bit sensitive but with that kind of news I think maybe when we sat down he could have explained everything properly like we have some bad news or we got the results back and etc not just oh yeah your son have a life altering long life condition good luck with that. I know I probably am being unreasonable but it really threw me sideways.

I know this may be a long shot as it's a rare chromosome disorder (hence why I'm posting in aibu for traffic)

Long shot but I know Mumsnet reach far and wide and I was wondering if anyone else's child has this and wouldn't mind sharing what it's been like and what help and support has been received as there's little information online.

Here

Wow that does sound really poor.

However, it doesn't change the diagnosis or next steps so, in the nicest possible way, I think it is worth directing your energy there as it sounds like you're going to need to.

Sorry to hear that OP, it sounds like it was handled terribly. I'd advise emailing PALs because it's absolutely feedback they should take on board. Not minimising your feelings or excusing how you were treated by the secretaries sort the appointments and so they might have thought it was booked by them; but still no excuse.

The genetics team should have links to resources and groups which might help.

I'm in the northwest to there is a specific northwest unique Facebook group,although im not sure how active it is,I'm also fairly sure that there are a number of families in the northwest whose children have the same deletion ,Unique may be able to put you in contact with them if you so wish.

I know where you're coming from. I appreciate that you might not receive what I have to say in the positive way it's intended, but here I go anyway... Years ago I took my mum to hospital for a routine appointment and sat there while the specialist told her her condition was terminal and she might have six months to live at best. Neither my mum nor I had had any inkling after tests and apparently minor surgery that anything was seriously wrong — and I channelled my distress and anger at the doctors for not communicating better and earlier what she was suffering from. I spent weeks raging at them for not communicating and handling it better and it was only in retrospect that I realised it was easier for me to take out my grief out on the medics rather than grieving with my mum. Sometimes it's easier to be angry than devastated.

So I'd ask you to put your anger with the way this has been handled into a letter, send it to those concerned and then try and focus on getting your DS the help he needs. The NHS is over-stretched and staff are up against all kinds of problems, including communication women. I don't think it sounds as if your son's prospects have been affected by the lack of attention. So look forward. Now you know the worst and now you can learn and plan. I wish you all the best.

Not read the thread but just wanted to say contact charity has an online database where you can connect with people all over the world with same rare disorders. May be useful.

Not unreadable to be shocked by pediatric care and the way it was handles. Hopefully you will find other sources of support