Upset and confused by suggested diagnosis for 1 year old - please help

[DampDudes]

I am posting this on behalf of my friend who is understandably distressed by the possible diagnosis she has received for her daughter. I’ve copied and edited this from her emails (with her permission) to give full details, so please excuse any oddity of style. In summary though:

• 13 month old girl unable to crawl or sit up or use her arms, seems to find it painful to put weight on arms.
  
  
• Paedaetrician not listening to the parents’ assertions that she is otherwise developmentally normal and just dislikes being on her stomach or using her arms and is insisting on a neurological diagnosis, suggesting various chromosomal disorders and the like.
  
  
• Parents feel distressed at this possibility and frustrated at the doctors’ failure to listen to them properly. Would like a second opinion but not sure how to go about it or what the next step should be other than getting the X-Rays done.
  
  If anyone feels they have something useful to offer or a knowledge of the system then she would really appreciate the support.
  
  *
  My DD is 13 months now but she still doesn't sit without support or crawl. She had a health review in July just before we left for my home country. The healthvisitor wanted me to see gp to check her. So, I thought I'll take her to private paediatrician in my home country because we were going to be away for 3 weeks.
  
  Her hips are fine but her left arm is in a wrong position elbow down, so the doc sent us to see a physiotherapist. She gave me exercises to straighten DD's arm and built her muscle strength . After coming home and having done the physio with DD for few weeks, I noticed that she avoids putting any weight on her right arm and that her elbow and shoulder blade click quite a lot. I booked a visit to gp as soon as we got home and told him all about it. He sent a referral to hospital.
  
  So after 3 weeks of waiting they sent a letter to tell me that they've referred DD to community paediatric team for further developmental review. I rang the hospital to tell them that I know that her delay in motor skills are because of her arms. But they said I need to see gp to get another referral to orthopaedic ward... so more waiting and more delays.
  
  I'm very angry that none of the doctors she saw when she was in the hospital as a newborn noticed her left arm, and I'm fed up with being sent back and forth without anyone wanting to do anything. The hospital had several opportunities to spot the problem with her arms but they missed them. I just keep thinking that what if I hadn't taken her to see the paediatrician in my home country...
  
  I would say DD is pretty much where DS was at this age. She says mama, dada, papa and loads of other syllables too that don't make any sense she is clearly trying to form words. It's just her arms that are delaying anything to do with her motor skills. She has tried crawling several times but it hasn't worked out so she rolls around the place.
  
  There's clearly something wrong. Plus she has never liked being on her stomach- not even as a newborn. It must be uncomfortable for her. So, now I have to book a time to see the gp again, to get the referral to the orthopaedic team. It’s going to take weeks again. Luckily DH's private health insurance kicks in in October so we can go private if NHS fails us.
  
  Saw the gp today... She said it was utter rubbish and that DD should have been seen already. She said there's something more fundamental going on with her arms... I'm just in shock and so upset. It just sounds like she might need surgery or something. But at least my gp is sorting it out now.
  
  We had the paediatric appointment today... She's about 6-7 months behind now (which doesn't surprise me as it’s taken 2 months to see a doctor!). First things she said was that DD doesn't really look like either of us, she's got dysmorphic features (bulgy fore head, sunken eyes- I don't see any of these, I think she looks quite normal but I am her mum).
  
  Doctor didn't want to do xray yet but ordered MRI under anaesthesia, blood tests, physio and speach therapy. She was talking as if DD has mental disability... I still think that it's all because of her arms. That's why she can't do stuff. But hey I'm not a doctor...
  
  I Googled the Doctor and all her research is into neurological complaints and dysmorphic features. Shows where her background and interests are... Probably needs case studies. And that's why she referred her to mri straight away.
  
  We’ve since had a letter from her to say we can get the X-rays done before the MRI but that it’s very unlikely surgery will be considered, so she's already made up her mind that it's a neurological problem... And she's probably branded us as difficult parents! She ended her letter by saying her colleagues will do a follow up on DD in January, so it seems she doesn't want to deal with us anymore either.
  
  Do you think i should say something like I hope my daughter is not denied any treatment she may require or just leave it?
  
  The private insurance wont cover this because I went to the gp before the cover kicked in. Even worse, to our minds is that the doctor is very high up in the paediatric team so it’s highly unlikely anyone will disagree with her. We just don’t know what to think or do.

[saintlyjimjams]

I think a 13 month old who cannot sit up does need to be properly assessed. :( I'm not sure what is meant by unable to use her arms.

I wouldn't get hung up on the dysmorphic features business but a proper assessment is definitely a good idea.

I would advise your friend to view it as a 'ruling out' exercise so they are ruling out possibilities - tbh the earlier this happens the better really as it means if help is needed appropriate help can be given. When my son wasn't talking they had to rule out deafness for example (even though I knew he wasn't deaf, it had to be officially ruled out).

Hope your friend gets some answers/reassurance soon.

[DampDudes]

Oh yes, and she's referred this little girl to speech Therapy too? A13 month old baby who's babbling?!? And being brought up bi-lingual. But apparently she's behind in speech...

[insanityscratching]

I would say that just now is a very frightening time for your friend and it's easy to look to far into what others might be looking for. I would be reassured that the paed has ordered an MRI as that will give the clearest picture of her dd's difficulties not only neurological but also physical/structural?. It's also positive that her dd has been referred to SALT and physio because whatever the cause these professionals will work on the symptoms her dd is presenting. If it's any consolation my very intelligent dd aged ten does physio 3 times per week and saw a SALT until she was five.
It sounds like the dd is having a multi disciplniary assessment where she will be seen by many professionals who will each submit their findings. A diagnosis or not will be a joint effort and not solely down to the paed please be reassured by that.
For me the time leading up to diagnosis was probably the hardest tbh once you know what you are up against it seems easier. Tell your friend to hang in there and be kind to herself.

[Sirzy]

I am not sure what your friends problem is other than perhaps they are in denial a bit? Damage to an arm won't be why she isn't sitting unaided which at that is is concerning.

It sounds like they have a consultant who is being very good at trying to get to the bottom of the problem

[insanityscratching]

SALTS also deal with feeding issues and so I would assume if the child can't use her arms she isn't feeding herself as you would expect at thirteen months either.

[neolara]

I have a friend who's dd had mobility issues as a baby. She was back and forth to GPs, physios and paediatricians for literally a couple of years. The child turned out to have an incredibly rare disorder (was literally one in a million) that was causing very significant difficulties. Fortunately, once the medics knew what it was, they were able to offer treatment that meant the child was able to lead a normal life. If they hadn't done very thorough investigations, the child almost certainly would have ended up unable to walk. I understand your friend is frustrated, but I would strongly suggest that she works with the doctors. Ruling stuff out can give clues to what is going on.

[TheCrumpetQueen]

If it is just her arm that is the problem, why can't she sit up on her bum unaided?
Seems like there's something else up and it's good she's being fully assessed.
Also seeing a SALT cannot hurt.

Good luck to your friends

[lunar1]

I really don't think that there is much else the drs can do right now. When is the MRI?

[girliefriend]

It sounds like more than just an arm issue to me, can she weight bear on her legs?

The speech therapy ref might not have anything to do with her speech - which I know sounds nuts - but quite often they are involved in diagnosing other conditions when there are concerns re development delay.

[hazeyjane]

The first thing most paeds will look at is genetics and neurological causes, they will also order blood tests.

The mri covers the neurology side and if they are saying there are dysmorphic features - which can be very mild but picked up by someone with experience in genetics, then they will also order chromosomal tests. These are important as some motor delays can be down to degenerative diseases, so they will want to rule these out.

It is obviously a very scary and worrying time, but the drs looking at your friend's dd are just trying to get a team in place to support her as she grows and develops, and this will include physio, ot, speech etc

Unfortunately there are often no quick answers, it is like a jigsaw puzzle. 13 months is very late to be unable to sit, have they mentioned any muscle weakness or hypotonia (low tone) this is often a reason for late sitting,

[DampDudes]

My friend says:

"Babies use arms as support when they learn to sit but she can't. She is nearly sitting but it has taken this long because learning to sit without being able to use arms as support or balance is very difficult. And I don't dispute her findings but it's everything that is related to being able to use arms.

I just think doing MRI under general anaesthesia is a bit extreme. They should start with finding out what is wrong with her arms/shoulders, and then move on to other things. I'm not having her put under anaesthesia more than she has to, so if she needs surgery they can do the MRI at the same time.


And anyway, there is nothing to support her diagnosis that DD has neurological damage. DD has tried to crawl and push herself up but has given up because her arms don't work. If she had neurological damage she wouldn't be doing these things because it would be impossible if her brain had damage in that area."

I think she's just frustrated because the doctor didn;t listen to any of this at the appointment. Had the Dr listened and then said yes I understand what you're saying but here's what I think we should do and why then perhaps my friend, let's call her Sophia, wouldn't feel so defensive at the moment.

Thanks for the input about the SALT team - I've learnt something from that and I hope Sophia will find it useful when I relay it.

[hazeyjane]

The thing is the physio would have identified if the issue with her arms was one requiring X-rays and if they have referred onto paeds then it will be because there is something at the root of the weakness in her arms and that there may be weakness elseswhere eg truncal weakness (also vital in being able to sit).

I honestly don't think they suggest MRI's without believing there to be good reason, they are expensive for a start!

Also it is not true thatif she had brain damage she wouldn't be able to try and push up and crawl. My friend's dd has brain damage and had no problems doing these things

I am not sure what surgery your friend thinks the drs should be doing?

[TerrorMeSue]

Babies who are born without arms learn to sit. Using your arms is not crucial to the process of learning to sit unaided.

This sounds like a very distressing time for them. However, I agree with others that they sound in denial and the investigations sound sensible.

[Sirzy]

They wouldn't be doing mris unless there was good reason to.

Without wanting to sound patronising but the doctors know what they are looking for, they can see small signs and start to wonder "what it's" about a cause for what they are seeing. If there is something it is much better it is found now and proper support and treatment put in place.

It's all to easy to treat the apparent symptom without looking at the bigger picture.

[Sirzy]

"What if" not "what it's"

[LittleMissWise]

They don't have MRI scanners in theatres so it would be highly unlikely she would be able to have a MRI and surgery at the same time.

I think an MRI scan would be the right way to go. Are they doing her brain and arms/shoulders at the same time? I really don't think the doctor would be sending the little girl for tests just to get some 'case studies'.

I agree with the poster who said that maybe your friend is in denial.

[Knotter]

I agree that it sounds like your friend is finding it hard to accept that there may be more to it than her dd's arms only. My dd2 has severe learning disabilities which were not obvious at birth, so I understand how hard that acceptance can be. Dysmorphic features and gross motor delays are often among the first pointers that something is amiss. I would take all the help being offered as it can surely only help with finding out asap what is happening.

[colleysmill]

Hi op. Obviously your friend has noticed the problems her dd is having with her arms but there's no mention of what's happening to her legs? Sometimes this can also have a bearing on development.

It sounds as if the child is being thoroughly investigated which is what you need at this point - as much to eliminate problems as well as identifying them. It can be a slow process but it does seem as if everything is being done to try and help her.

[MoaningMingeWhingesAgain]

Sounds team also that she is quite shocked by the idea her dc might have a significant problem understandably.
Rather than the Dr looking for case studies it sounds like they chose to refer to a Dr who has the relevant expertise to investigate and diagnose.
I hope she gets some answers soon then she can start to process it all.

[Booboostoo]

Just to add one little point: the fact that the senior consultant has mentioned that the little girl will be seen by other members of the team could be entirely routine and not a reflection on the consultant's view of the family as difficult. Usually senior consultants lead the case diagnostically but leave, what for them are routine, tests to more junior members of the team. Rest assured though that all results and ideas for diagnosis and treatment will go back to the senior consultant.

Best of luck.

[yomellamoHelly]

I would suggest your friend pays for her dd to be assessed by a physio privately. Our ds2 has a form of cp so your friend's story sounds very familiar.
Best advice we had was from the consultant who first suggested ds's first diagnosis was to get help asap if we could afford it as it would make a huge difference to him to get help while he was still young and if we did manage to get anything out of the nhs it would be very limited.
We went to Kiki's Childrn's Centre in Clapham.
Suspect lots of people on the special needs board will have lots of advice / suggestions and be able to offer moral support.

[atomicyoghurt]

I think your friend needs to realise that dysmorphic and neurological might be scary words but they might be causing problems with her babies arms so why wouldn't she want to get it investigated? And MRI under general anaesthetic will be far less bother than multiple x-rays and will give far more information about any malformation in her daughter's arms legs and whatever. My daughter had to have a lot of tests for liver problems when she was a baby including MRI under general and they were by far the easiest ones to cope with
If it was my baby I would be grateful that I had a paed that was taking the problem seriously and getting the tests done. Trust me, she wouldn't order an MRI over an x-rays of she didn't think it was necessary, they cost the NHS thousands. The physio from abroad clearly hasn't resolved the issue. Imagine how she would feel if she rejected these tests because she feels as a mother she knows better than the medics and it turned out there was a serious problem.

It sounds like this paed had a crap beside manner but is doing the right thing. I would make sure I always had someone with me for the appointment with the paed to keep a bit of perspective.

You are always entitled to a second opinion. Just ask.

[hazeyjane]

Yes agree that it is unlikely the dr is trying to pass your friend over because they think she is difficult, ds's paed referred us on to 3 different drs after first meeting ds, because he wanted him to have specialists in each area.

The other thing is that I know how hard it is to wait for these things, but it is a long slow process, referrals and results can take months, and I'm afraid there is no guarantee of a diagnosis at the end of it, the most important thing is to get the support and address her needs as she needs it.

[VinegarDrinker]

sounds like your friend thinks that the term neurological means brain damage. - it doesn't, it refers to the whole nervous system including spinal cord, nerves etc. Arm/s "not working" could be due to either muscles or nerves not working properly.