To be upset with paediatrician? WWYD?

[SinkGirl]

My son (almost 23 months) was diagnosed at birth with a rare endocrine illness and spent 2 months in nicu. He was assigned an endocrinologist, who we’ve seen every 6 months, and a paediatrician who we’ve seen every 3-6 months. When we see the endocrinologist it’s in a joint clinic with the paediatrician.

Back in February they did some tests and told us that the original illness had resolved and changed his diagnosis to one that still causes low blood sugars but which is less serious. His paediatrician has been very dismissive about the new diagnosis - told me he didn’t need to be monitored any more unless he was sick. I’ve asked a few other questions and the responses have been guesses / looked up on google (fine, not her area of specialism but if you don’t know maybe ask the endocrinologist). From the research I’ve done I knew he needed more monitoring so I’ve done it anyway (which is good as I’ve picked up and treated several hypos). Went into the appointment yesterday expecting a lecture for testing him.

He had a developmental regression in March (seeing someone about that in a few weeks) and he had a squint so we saw an ophthalmologist who diagnosed a disorder of the visual pathway and he suspected a related neurological problem so sent us for an MRI.

Yesterday we saw the paed and the endocrinologist. First of all, the endocrinologist confirmed we should be testing his sugars every morning, she looked pretty sheepish as she had given completely contradictory advice to me on multiple occasions. He also gave a different care plan than what I’ve been told by the paediatrician.

Then she looked at the MRI report and said the only thing that showed up was the vision disorder, everything else was normal. So we left feeling really relieved.

Been to see the ophthalmologist this morning who told me that actually the mri showed some brain damage, what he described as “a few small patches in his brain”. When I questioned further he told me it is a type of scarring in the white matter of his brain and gave me the name for it. He said that because the patches are small, it “probably isn’t an issue” but given the difficulties he’s having it seems like a massive coincidence if it’s not related. When I looked it up, it said that symptoms first present between 1 and 2, and that amongst other things it causes learning disabilities and vision problems. Given that this is exactly what’s happened to DS, it seems strange to dismiss the possibility it’s connected.

I’m really upset that they found that my son has brain damage of some kind and she didn’t tell us. If it hadn’t been for the ophthalmologist appointment today we would have had no idea. I appreciate it may be mild and I appreciate there’s no treatment but surely you should be fully informed of findings on scans and other tests?

It’s just gotten to the point where I don’t trust them at all. There have been other cock ups along the line which are all fairly minor in isolation, but in combination have affected my ability to trust they’re doing everything correctly.

Am I being unreasonable? I hate to make a fuss, I really don’t want to complain or cause a stink, but I’m so upset by the whole thing. The worst part is that he had several ultrasounds of his head as baby and this should have shown up then, and in fact I vaguely remember the person performing the scan saying something about ventricles but after the report came back I was told it was normal.

I just want to get my son whatever help he needs and I’m not sure what to think at this point. Would you try and get a referral to someone else?

[Slartybartfast]

i think a referral to someone else might be a good idea. You have lost faith. No harm is asking.

[3girlmama]

YANBU.
Put it in writing on a timeline of events what he has had tested, by whom, what the outcomes were and who told you what. Send it to PALS the complaints people for the NHS and request a more united and holistic approach to your DSs care. Xx

[Just2MoreSeasons]

Sorry you're having a tough time. A friend of mine has a ds with a genetic condition and had a lot if problems with where he was been monitored. She has now asked that everything be changed to a new hospital and she's finding information and appointments so much easier. Can you try changing his care to a different hospital?

[3girlmama]

You need to have trust in the people looking out for/after your child and you'll be doubting every step of the way now xx

[whattimeislove]

I would be pretty cross about that. As a pp says, I would put together the chronological list of what you've been told and contact the combined clinic & tell them you're unhappy and would like a meeting with both doctors. If they drag their heels? Go to PALS.

I think some doctors think patients/parents don't need to know everything, but many of us want the full picture and in fact need it when we're dealing with so many specialists.

Good luck

[DarthLipgloss]

I would (if you can travel) find out which consultant at what hospital specialises in DS condition and get to be seen by them.
This is what my friend did for her son (orthopaedic paeds specialist in Sheffield ) and it helped no end with confidence after dithering local hospital drs left her with none. She went via GP., parents on forums for your DS condition willl likley know who is best to help him. Have colleague whis DD is seen in London (we are in North) Good luck x

[Crunchymum]

My baby has a rare genetic condition and we are under an Endocrinologist (who happens to specialise in my baby's rare condition) as well as a community paeditrician.

Whilst we're just starting the "journey" into this complicated world, we have been lucky with the care thus far. Doesn't mean I'll be complacent though. I am spokesperson for my child (I am not suggesting you are complacent OP. I just mean I'll call even the experts out if I have any cause to do so and I know they will never have my childs best interest at heart as much as I do!)

Definitely raise this with PALS

[Sweetandkind]

Do you go to a main regional hospital or a local 'town' hospital? You can ask for a referral to a major city/regional hospital ot GOSH. Standards are higher in major hospitals specially for rarer conditions.

[Cuddlykitten123]

Are they consultant level specialists? If not insist on t. then a refferal to a hospital that is a center of excellence for his condition, I.e. Kings for stroke, GOSH for peads etc.

[Cuddlykitten123]

Also order a full copy of his medical notes so you can see what those scans actually said if you need to persue a complaint

[MrsMaisel]

SinkGirl - this is all pretty distressing - I'm sorry you're going through it. Are you in the UK? My son has endocrine issues stemming from a brain tumour (has multiple hormone deficiencies). I can recommend a neurologist in London / endocrine team in London if you want to PM me.

[SusieOwl4]

I agree with all of the above . You don’t have to kick up a fuss but you do need to be fully informed .

Unfortunately mistakes are made sometimes. My husband was sent home on the same day after a mini stroke. The next day we went to the hospital where they did a scan and turned out he had had a full stroke with major damage . The consultant could not understand how he was sitting their looking so normal . They did sort of apologise and I did not take it further but my gut feeling on that day was they should have kept him in and I wish I had pushed for it . Follow your gut feeling get informed and ask to be referred elsewhere . It’s your entitlement.

[JuJu2017]

YANBU at all OP. You are a mother, and you have put your faith in medical professionals who should be doing everything they can to provide thorough and consistent care to you and your son. The fact that you know your paed googled some of your sons' problems is bad enough, but now finding out that she skimmed over some pretty serious MRI results is even more shocking. Can you request a new paed? If you are being treated by the NHS, maybe a complaint to PALS would be a good idea - not only for you and your family, but to hopefully teach the doctor a lesson and ensure no other parent/child has to put up with her blase attitude in the future. Sending hugs to you, and I hope you find a better healthcare team that will do all they can to be thorough, honest and offer good care for your child.

[littledinaco]

Put a timeline together and contact PALS. Try and write it in a factual way without emotion. Your OP is written well but I would leave out things that aren’t strictly factual so things like ‘the paediatrician has been dismissive about the diagnosis’. Instead put exactly what they said, what questions you asked and what answers were given.

For any further appointments follow up with an email outlining what was discussed, what advice was given, when you will next been seen, etc. So among the lines of ‘Thank you for seeing DS today. As you advised we will continue to test his bloods each morning and if ...... we will do ........
I discussed with you I am concerned about ........... but you advised this is normal and should not be treated as a concern at this stage. You advised you would refer DS to ...... and I await this appointment. I look forward to our follow up appointment in 6 Months as discussed. Please can you confirm in writing/by email that my understanding of our appointment as outlined above is correct’

It then means they cannot backtrack or say they told you something when they didn’t etc and it makes it harder for them to dismiss any concerns you raise if they actually have to acknowledge it in writing.

In terms of seeing someone else, if it’s a rare illness there may not be anyone else to see easily. You could probably do some googling/see if any Facebook groups with your DS condition and ask who the specialists are.
Don’t just ask to see ‘someone else’ though as they may just arrange the next best specialist or someone with limited experience of the condition.
Do your research and if there are particular specialists you want to see then ask for them as part of your complaint.

Unfortunately you will probably end up the main expect in your sons conditions. The NHS seems to struggle to pull all the specialists together and get ‘the big picture’ so often you have to research, research, research the best approach/treatments/tests/what referrals you want and then put your case forward for this at appointments.

Also, if you’re seeing different people, it can be useful to have an A4 sheet with an outline of DS history. This saves valuable appointment time going through the same questions and means you get the most from the appointment. It’s far quicker for the consultant to read through a sheet than ask you questions and write them all down.

So, along the lines of
No issues in pregnancy
Born full term, vaginal delivery
Diagnosed with ..... at age ..... medicated with .......
Diagnosed with ...... at age....
Ultrasound age ...... results normal
Gross motor skills delayed
Speech delayed
Seen by ..... in department ...... every 6months
Etc etc

[Booboostwo]

My experience of rare conditions is that you have to try to get seen by a specialist because no one else knows what they are talking about. It took us four years and endless tests (scintigraphie, fully body X-rays, bone scan, CT scan)to even get an diagnosis for DD’s rare bone disease, the specialist said he would have known what it was from the first X-ray (funnily enough an orthopedic specialist in Sheffield, small world DarthLipGloss). It’s huge relief to finally deal with someone who knows what they are talking about. We found the specialist through a patient support group on FB. The patients dealing with these conditions often have excellent information on helpful specialists.

[SinkGirl]

Thank you so much for all your responses - I could cry, as I felt maybe I was being unfair or unreasonable so it’s good to know I’m not.

Just to clarify a few things: he was born at my local hospital and in nicu there. The neonatal team were excellent and realised there was a problem right away. They liaised with what is now his endocrinologist who is based at the nearest university hospital in the next city. He advised them on testing and he was diagnosed with something called hyperinsulinism (basically the opposite of diabetes) which is pretty rare. He was assigned the paediatrician who’s senior within the local hospital but from what I can gather she had limited experience with that condition so we had joint clinics regularly with the endocrinologist who travels over for clinics.

At 16 months they thought he may have outgrown the hyperinsulinism and tests confirmed that, but he was still having hypoglycaemia when fasting so they changed his diagnosis to something more common and less worrying. He came off his meds, OT were happy and discharged him and we were all happy, just a bit cautious about the hypos. His paediatrician said I didn’t have to test him unless he was vomiting, that there was no way his sugars would go low enough to be dangerous... well that was disproven quite quickly when he had a very low result one day within hours of eating. So I’ve basically ignored what she said and continued to test him every morning and any time he doesn’t seem right to me. Turns out that was the right thing to do.

Anyway, at about 18 months he had a big regression and I was concerned it might be related to a squint he had, so I got his ophthalmologist appointment brought forward. He diagnosed under-developed optic nerves and wanted an MRI to see if he had another condition that affects the brain and hormone system as all his symptoms seemed to fit.

As it happens, he doesn’t have that which is good news - but it took me several hours after this appointment today to realise I’ve just been told that he has brain damage and not to worry about it. I mean, sure it might not be severe but of course I want / need to know that, and to understand how it might be affecting him!

So now he doesn’t really have any rare diagnoses - the initial one resolved, the one they were worried about has been ruled out, so it’s just the blood sugar issue which isn’t that unusual and this scarring in the brain (PVL) which they’re telling me isn’t a big deal but they’re not neurologists and I don’t know how accurate this is. I’m not sure any specialist centres like GOSH would see him as I don’t think there’s anything that “serious” going on. I’m just really upset about the way it’s been handled and how dismissed I have felt about everything.

We are seeing the community paediatrician who specialises in development in a couple of weeks and by all accounts she’s fantastic. I’m going to talk to her about the scarring on the brain, whether she thinks it is relevant and if she can refer us to a neurologist, even just to have a discussion about what this means. I don’t think that’s a massive request to be honest.

I think his current general paediatrician is retiring soon, based on a comment the endocrinologist made, so she may not be there when we are due back to see her in January.

I will try to write everything down properly and contact PALS and I’m definitely going to get copies of the report and other notes as I want to see it for myself.

[arghhhhhhhhhhh]

Hi sink

My little girl has hyperinsulinism and was treated in gosh where she had her pancreas removed - she was born in my then local hospital who had no idea what to do with her I did the research and actually rang gosh myself as I felt they were treating her like an experiment!
They got involved very quickly thankfully and communicated with the local hospital till she was airlifted to gosh!

The consultant endocrinologist is Mr Hussain and he is amazing he rang me back within an hour of my first phone call and has since said he has many calls a day and always rings back as better safe than sorry - long story short I would give them a call you have nothing to lose - sending you lots of love and best wishes x

[Booboostwo]

Only you can decide if you are happy with the team looking after your boy or you want a radical change or a rediagnosis somewhere else. The MRI findings should be confirmed by a neurologist and ideally someone who has experience in endo complications if it is likely that there is a connection. My experience is that the big diagnostic, specialist centres throw a lot of people at the initial diagnosis because they are more aware of the further complications. My DD’s first appointment at Sheffield was with 7 people to check for all possibilities because her rare disease has even rarer versions (70% of people with this rare disease have my DD’s version, but the rest have two other and even more complex versions - if ortho specialists didn’t even diagnose the condition in the first place, what chance did they have to know about the other versions?).

On a personal note I found that over four years when we were given a less serious diagnosis I was happier to accept it and get on with life, whereas when we were given a more serious diagnosis there was an urgency to get a second opinion. It’s human that we are more likely t believe good news.

[SinkGirl]

Thanks everyone.

I wish I had contacted GOSH when he was younger, but he was quite stable on medication so I didn’t think there’d be any need. I don’t think they would see him now because his insulin levels were apparently normal after his fast in February, with high ketone levels, so apparently Ketotic hypoglycaemia. Of course now I want to get a copy of those test results myself to see for myself as my trust is a bit shaken.

I’m just really upset by how flippant they’ve been - essentially we were told yesterday that he has brain damage, that surely warrants a proper discussion about what was found, what it means, reassurance that it’s not a big deal etc. Maybe it’s complicated by the fact that the MRI was ordered by the ophthalmologist rather than a neurologist so he was unable to go into much detail.

[TwoGinScentedTears]

Go to your GP. Explain all of this and ask for a referral to another team for a second opinion.

It feels awful questioning professionals but you are allowed a second opinion and your gp is the gateway for these referrals.

Go with your gut, do what you have to do for your son.

[Piffle11]

YANBU. My DS has severe autism, and his original paediatrician couldn't have been less use if she'd tried. The bizarre thing to us was that she was, apparently, an 'autism expert'. DH and I always felt as if she just wanted to tick boxes and get us out of there. When we were applying for DLA for our son her answers very nearly screwed up his application - she didn't give any details as to the difficulties he experiences, just a few words answers to each. We discharged him from her care, and have only just started seeing another paediatrician (after a gap of around 5 years): this one is much better. Do what is best for your child.

[Sweetandkind]

You have every right to request a referral to gosh or other specialist centre. You'll find they thoroughly assess him rather than just accept past opinion. It will be a second opinion which will give you reassurance. I know how hard it is to navigate the NHS...