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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

Original poster

To think the paediatrician could have told us better?

31 replies

TheLastChance1 · 08/03/2023 08:11

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.

OP posts:
greenacrylicpaint · 08/03/2023 08:17

yanbu
this is shit communication

I had too many abnormal/concerning results for me or my dc which were not comminicated to me that I don't believe the 'no news is good news' anymore and always follow up test results.
always ask for copies as well so that you can ask for a second opinion or research yourself.

are there any (online) support groups for this condition? I found those incredibly helpful when dc was diagnosed with a rare condition.

all the best!

Sirzy · 08/03/2023 08:24

Sorry you have had tough news.

sometimes it takes a while for those kind of blood tests to come back so it could well have been conicidence that the two collided.

personally I have always preferred the straight to the point approach when it comes to things like that with DS but I know not everyone feels the same

junebirthdaygirl · 08/03/2023 08:31

That's just awful. I'm sorry you had to hear it like that. But sometimes we focus on one aspect of an event because to focus on the main aspect is just too painful. It will take time to get your head around that diagnosis so go very easy on yourself and get as much support as possible.
Unfortunately the doctor's manner is severely lacking.

BuffaloCauliflower · 08/03/2023 08:31

I’m so sorry, you’re not being sensitive this was incredibly badly handled, and as you say you had to push for another appointment they didn’t try and get in touch with you at all. I’d seriously consider making a complaint.

This must be a huge thing to process and I hope you find other parents experiencing the same thing.

AvoNw · 08/03/2023 08:36

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.
That was handled so badly. Especially him trying to bullshit that he’d arranged the appointment. I’d complain via PALs.

I imagine the genetics team will be much better. Hope you hear from them soon.

Lockedinforwinter · 08/03/2023 08:39

YANBU, that is awful. You don't just drop life changing information on someone like it is an afterthought. I hope that at least now your DS will get the help he needs though.

amberedover · 08/03/2023 08:44

Oh sweetheart of course you're not being over sensitive .And thinking about it - any parent with a child with multiple problems is absolutely entitled to be oversensitive when faced with this kind of care .
I'm so cross on your behalf .
FlowersBrewCake

carriedout · 08/03/2023 08:47

That was very shit communication.

But focus on your son and the news, rather than that interaction. You have no idea why the consultant was that way - they may be a poor communicator (or an arse!) all the time or could be hanging on due to the pressures of work given the state of the NHS.

Focus on you now and getting whatever help you need Flowers

MischiefTheChicken · 08/03/2023 08:49

I’m so sorry for you - that definitely sounds like an insensitive and unprofessional delivery of the information. In the middle of that I think you may have revealed the name of your DS so you might want to contact MNHQ to edit unless you intentionally used a pseudonym. I hope others have some more specific advice for you

OllytheCollie · 08/03/2023 09:00

If you have not already look at the Contact a Family website and try their helpline. There are lots of support groups for families supporting children with chromosome disorders and Contact is the best charity for putting you in touch with the right people.

Also speak to your HV. Some areas still have v good special needs HV services and you may get much better support from them than paediatrics.

I agree this sounds really badly handled. You deserved better. But there is often better support out there.

Geneticsbunny · 08/03/2023 09:03

That was terrible. This sort of thing is very similar in some ways to a child bereavement and it was handled really badly. There might be some councilling you can access via the genetics team around his diagnosis if you feel you need it.

My son was diagnosed at 3 months old with a genetic lifelong disability. Not the same one as yours but similar outlook.

Please apply for dla. It gives you access to lots more support as it is used as "proof" of disability by lots of places. You can put the money in a savings account if you don't desperately need it and save it for when he is older. You get free carer tickets for things like zoos and it will help make it easier to get respite support from the council when he is older.

I found pre school years really hard. It does get easier and you will find joy in watching him achieve things and develop his lovely little personality.

There might be a parent support group near you for other families with young kids with disabilities like a playgroup? The place he was diagnosed might be able to tell you where or you could try looking at your councils local offer web page. The more people you know who are going through the same, the more knowledge you will have and knowledge is power.

UniPsychle · 08/03/2023 09:32

Hello @TheLastChance1 you're not being sensitive this has been handled very badly. I'm sorry that you've had such a shock; it must be a lot to take on board.

I don't have a child with your son's diagnosis but I work in the area of special educational needs and have met several children and adults over the years with his specific genetic difference. Although it is still quite rare, it is one of the more common 'microdeletions'. Around 1 in 100 people with autism share your son's diagnosis.

Aside from them all having this diagnosis (and all being rather lovely) they have all been completely different to one another. Those I have worked with have all had some degree of difficulty; some have attended special schools, some attended mainstream schools. On a few occasions there have been parents or siblings who shared the same genetic difference but had no apparent difficulties and didn't know until they had another family member who was tested.

If you haven't already, I would suggest you visit Unique's website and consider joining them. They generally have a really good balance of well-explained factual information and real-life experiences from families. They can also try and put you in touch with other families who have a child with the same genetic difference.

rarechromo.org/

x2boys · 08/03/2023 09:36

TheLastChance1 · 08/03/2023 08:11

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.

Hi Op.have you joined Unique ?
it's the charity for parents and carers of children with rare chromosome disorders ,my son has 16p13.11 microdeletion,he is severely affected by it he has severe autism and learning disabilities,but there are many children with the same or similar chromosome disorders,who are only mildly affected if at all,it's a very much wait and see I'm afraid ,if you are on Facebook unique have various hidden Facebook groups you can join they Wil add you ,some might be local to you and I'm pretty sure there is a facebook page for your child's specific deletion.

Petrarkanian · 08/03/2023 09:38

That is terrible. You are not being over sensitive, it's hard to process information about your children, you need time and information to get your head around it.

When my daughter was just born the doctor turned to my husband and said " You do know she has a cleft?" He said yes but if I didn't that's not how I'd want to be told.

Original poster
TheLastChance1 · 08/03/2023 09:40

Thank you to everyone whose commented I feel a bit less dramatic now and thought it was handled badly.

I haven't used my sons real name in the op, I should have put "Jake" sorry.

I think that's what's really hard about all of this like I've read it's the most common micro deletion but it affects people so differently it's hard to know what his future is going to be like - at the moment he can't walk at 2 years and 3 months, he's non verbal and struggles with social and other things which is why we thought he might be autistic (which I know he still may be, they won't test until he's five due to the diagnosis) but it's just not knowing, we know it affects him now because of all of this but it's how it will in the future and what happens next but I guess you could say that about anything really.

It was just a shock I think

OP posts:
AliceS1994 · 08/03/2023 10:18

Terrible communication I'm so sorry you had this experience. If you feel able, you could contact PALS to give your feedback on your experience as it is really concerning.

I'm a paeds nurse, I work in this field and know a handful of children with this condition and similar genetic disorders. I would call hospital switchboard and ask for the paeds neurology CNS (clinical nurse specialist), they will have lots of details of resources and support in your local area and will be more than happy to help. If there's not a CNS for paeds neuro ask for any paeds CNS and they will put you through! Generally the nursing team have more information of local resources and will be more helpful in helping you manage your day-to-day and listen to your concerns than the medical team would be. This is what they are there for :)

Best of luck to you and your little boy, be gentle with yourselves while you digest the news and then try and find your support system and make a plan for any interventions you need. Give your boy and cuddle and enjoy him, try not to let the worry of the diagnosis distract from enjoying your little boy.

HereForTheFreeLunch · 08/03/2023 10:22

Yes, that's really poor. We had an quick appointment with the geneticist who explained it to us and gave us links to contact a family, unique and another local group. Call up the genetics department and explain what has happened and ask for an appointment to discuss it properly.

Regarding the physio - we didn't get any either as issues were in line with development. So it was normal for DD. We got occupational therapy instead and that really helped.

Beaglesonlyplease · 08/03/2023 10:43

Hi OP, I’m so sorry that shit communication. My DD has disabilities so I’m familiar with the territory (and has a friend with the same genetic condition as your DS).
You aren’t in the South East of England by any chance?

Original poster
TheLastChance1 · 08/03/2023 11:18

Beaglesonlyplease · 08/03/2023 10:43

Hi OP, I’m so sorry that shit communication. My DD has disabilities so I’m familiar with the territory (and has a friend with the same genetic condition as your DS).
You aren’t in the South East of England by any chance?

No, we're in the NW.

From things I'm reading I think it's something we need to get used to. I was just thrown yesterday.

Hopefully now though we can get DS the help and support he may need.

OP posts:
Cuwins · 08/03/2023 11:19

I second getting in touch with unique if you haven't already.

SouthCountryGirl · 08/03/2023 11:23

You have my sympathy. I found out via letter that I have a rare condition. No one has ever bothered to explain what it is

Moonicorn · 08/03/2023 11:48

YANBU at all. I think they forget sometimes this is other people’s lives and test results for something this significant just sitting around is a bit cruel, or worryingly disorganised. Wishing you and your son all the best, there’s usually Facebook groups which help for things like this.

nedtherobbot · 08/03/2023 11:56

My son has the same deletion, diagnosed just before he turned 1. He is now 7 years old. I second the recomendation of unquie and happy to talk if you would like.

Hankunamatata · 08/03/2023 12:49

www.undiagnosed.org.uk/

Try this site. Honestly the genetics team will be much better. You can ask for genetic counselling.

Patchworksack · 08/03/2023 13:09

I’m sorry, it sounds like that was handled really badly. I spent yesterday sitting in as an observer on an epilepsy training course as part of PPI (public and patient involvement) which is a bit of a buzzword currently, precisely to give feedback on a patient/parent-carer perspective on how doctors come across to the families affected - so it is slowly changing. Facebook is a really good place to look for support groups and a quick search brought up several with thousands of members for that specific genetic difference.