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.

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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.

Your poor friend, it's so scary when you think something may be 'forever' wrong with your child.
DS2 has a genetic condition which wasn't diagnosed until he was four. Now, he did/ does have serious speech issues but he also had the low mobility (he is very hypermobile) and frequent illnesses. He was diagnosed late really and it will have a negative slight on his life forever, as we didn't have in place what they are already offering your friend.

If they find nothing serious amiss, then your friend can stop worrying knowing that all is well, otherwise the wheels can start turning to get support, therapies etc in to place.

We saw a SLT when DS was around the same age and this therapist made a passing comment about 'features' & a 'syndrome'. To my eternal shame I was furious - how could she infer my boy wasn't perfect. I wish I had pushed her on that as we may have got the necessary referrals a lot earlier.

It could still be 'just' a structural problem with her arm that could be corrected by surgery and physio.

My problem would be the waiting till January, once that seed of doubt has been planted it feels cruel to add to the angst with waiting.

I expect they have a list they need to tick off, it's not just a case of 'oh her arm doesn't work it must be this'.

They won't do an MRI and surgery at the same time. Firstly they won't be in the same place and I doubt they'll do surgery without an MRI report. It is a case of being patient and getting all the tests done to build up a picture of what's wrong.

SALT look at feeding too, they assess swallowing.

You've had lots of good advice here and I will echo the most important points before discussing my relevant experience.

The doctor is being thorough, if you have doubts about her competence by all means ask for a second opinion. However from what you've said she is just making sure they don't miss anything.

This is all terrifying and its natural to disbelieve the doctors.

My dd has a neurological condition. As part of monitoring this she has an MRI under general once every three months.
At first I was deeply afraid but after much discussion with the anaesthetist I discovered that the does that they need to give them to get them to lie still for 20 mins is almost negligible.
It's nothing like the depth of sleep they would put then into for an operation and the recovery is correspondingly quicker.
There has been major advancements in the dosing over the last few years and they will weigh the child immediately before and give literally enough and no more. They come round in seconds and minutes not hours.

If your friend would like to discuss mri under general anaesthetic with me pm me for my email address.
I well remember how scared I was the first time and would be happy to put her mind at rest on that matter at least.

The other thing I would say as a mother raising a child with a disability is you can and will cope. It is hard sometimes as life often is but you just do your absolute best and teach them to be strong and accepting.

neurological damage is very complex. It can be in just the exact place that feeds the muscles needed to make her arms work. It doesn't mean learning impaired or unable to move anything.

My dd has severe actual brain damage according to her MRI but she has only moderate cerebral palsy. She walks unaided, he learning is not affected more than lower end of average and she speaks well but with a slight slur.

What are this child's leg like, or her trunk? Can she sit on lap unsupported (straight back, no hands holding her up?) It sounds like she has been sent to the right Docs tbh. And while it is scary, the parents need to listen and see what they think - as it sounds like they may already have some idea of what they are looking at

It sounds as if your friend feels there is some sort of conspiracy going on, which means her DD is being referred for needless investigations (I.e "the doctor specialises in neurological problems and dysmorphic features... probably just wants another case study...")

This does sound like she's in denial.

The best thing to do is be cooperative. And if it transpires that there's no syndrome / chromosomal problem at play then, wonderful! But it sounds like the little girl is getting investigated correctly, which is surely a good thing.

I think your friend has been referred to that particular doctor because they have the expertise with children exhibiting that sort of symptom. You need to encourage her to co-operate with the investigations and pro-actively seek thereby to improve her daughter's health.

Do her joints work or are they kind of stuck ? Does she dislocate her joints. Elbows and that s why she doesn't put weight. .

She should see a good physio who can assess all muscles and joints and build trunk strength to sit.

Doing MRI and other tests is being through and actually best to get out of way now while is a baby in order to have all possible information.

Your friend is lucky they being through and ruling everything out. If there is nothing wrong with her brain structure e MRI wil be clear and they can tick that off. Damage to brain can impact movement without impacting learning ability.

Speech therapist will look at understanding as well as making sounds. If she is doing ok then therapist want offer any sessions. It is just to assess. And if she does need help it is good to get it now not wait .

Dd1 hated being on her tummy until she could crawl, so it isn't necessarily uncomfortable.

The thing that sounds most worrying is the not sitting. If they're blaming it on not being able to use her arms, then, unfortunately, that isn't usually the case. My dd2 has 1 arm missing, and we were told she might take longer to sit as she's misbalanced. But they were talking about 9/10 months (ie late side) rather than 13 months. We know children with no arms and they would expect to sit quite a bit earlier than this.

I think others are right and they may be ruling out. Unfortunately there are some conditions that are so rare it can take a very long time to get even close.

Hope you friend has answers at some point. Glad you are there for her.

I think that now she is beingproperlyassessed then the Drs advice should be followed.
They only do the tests when they need to.

she's sitting unassisted now!

she's sitting unassisted now

Well done that little one!

Hi all,

I'm the mum of the little girl discussed here, and I just wanted to update what has happened. I'm glad to report that I have been right about everything all along. Everything started to unravel in December when we finally received the report from the first paed. Appointment. First of all, the paediatrician had put words into our mouth by listing her ideas as the parents' concerns and conveniently not mentioning my dd's arms at all. And secondly, she made a huge mistake by putting my dd's head measurement on the wrong centile. My dd's head measurement should be on the 25th centile but this paed had put it as below
0.4th centile (which would indicate a major problem). Therefore, she made conclusions that she's got some syndrome, dysmorphic features etc and send my dd to MRI scan. Unsurprisingly, MRI and all the other tests came back normal. But my dd has a problem with her arms and she has been diagnosed with mild form of tactile defensiveness (hypersensitivity- she's very ticklish in her arms but most of the other descriptions of TD don't apply to her) which is part of the reason she hasn't used her arms properly. Anyway, she is 18 month now, and thriving although still slightly behind in development but not all kids follow the text book examples (and we must not forget that she was a premie). And the new paediatrician we met in January even wrote to the report that she hasn't noticed any dysmorphic features.

So my advice to anyone in similar situation is that trust your instinct. You know your child better than any doctor who sees you for two minutes.

you might find the out of synch child book useful
www.amazon.co.uk/Out-Of-Sync-Child-Carol-Stock-Kranowitz/dp/0399531653
what is being done to treat this tactile defensiveness? have you got an OT trained in sensory integration or been given any ideas?

this book has a good chapter on sensory ideas for pre school child - www.amazon.co.uk/Small-Steps-Forward-Activities-Pre-school-ebook/dp/B00336ESW4/ref=sr_1_1?s=books&ie=UTF8&qid=1396525114&sr=1-1&keywords=sarah+newman if you accept this one mild issue as a special need - it is worthwhile reading up)

do get her assessed by physiotherapist, OT etc and look out for her speech and communication development = it does no harm to get her assessed early on just to make sure she doesn't need extra intervention now.

Thank you for the book suggestions! I will definitely look them up.

We are already seeing physio, OT and speech therapist, which is good. Although nobody has really told us anything about tactile defensiveness. We only know what we have found on the internet... but we have another OT session next week, so I'll try to get more information about it then.