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To think just because you can't explain something - it doesn't mean everything is 'normal'?!

(6 Posts)
youarenotkiddingme Tue 24-Oct-17 19:20:27

Apologies if this is long. It's medical related.

Ds was born after an EMCS. At 19+6 o was admitted to hospital for 3 days IV antibiotics for positive nitrates in urine.
I didn't dilate despite waters breaking and ds 'went high up' so giving CS.

Growing up he was typical in physical milestones (walked 10 months and crawled afterwards). He sat at 5 months but hated being on tummy as a baby.
Always noticed 'unusual' was he moved and despite being physical was clumsy, unbalanced. Didn't seem as able with left hand and preferred right. Didn't walk one step and then the other until much later than usual and tripped up kerbs frequently.

He had some social issues and communication issues.

He started getting allergies at 5ish. He also had chronic constipation so saw a general consultant specialising in gastro/allergies. I quirks dyspraxia but wasn't ever referred for assessment.

At 8 referred along asd pathway. Obvious at this point that's what it was an diagnosed at 10.

Before this I noticed odd spasm/ movement behaviour during nighttime. It happened because we went to a caravan and in same room. We (friends and I on holiday) began to discuss how ds also had brief absent periods and didn't seem responsive. Ds also complained of visual disturbances (room tilting/purple spots on wall) etc.

He also had what I thought was a febrile convulsion when he had tonsillitis.

Anyway it turned out that 5/10 minutes after falling asleep ds has a lot of muscle spasms that disturb his sleep. Had though seizures but after neuro referral and clear MRI and 24 he eeg it was out down to possibly sensory due to possible asd (as it was at that point)

I left it despite not feeling I had any real answers.

Consultant had also asked what dark patches on his skin were but then dismissed them after initial interest.

As well as this ds was suffering terribly with pain in feet and Achilles. He saw podiatry who said really bad flat feet, prescribed orthotic insoles with corrective degree on them and dx with posterial tobial tendonitis.

Ds would toe walk when his legs hurt but not all the time. This was put down to asd related tie walking once he had diagnosis.

The past few years his legs have become more painful at times and his co ordination seemed more obvious (I'm guessing because at some stage it's expected to have developed and it's not just delayed?). He also continued to only be able to balance on 1 leg and not the other!

2 years ago ds was referred to physio by podiatry because despite daily stretches his legs didn't improve. Feet did with insoles although he still requires a little correction.
Physio we saw was lovely. I passed comment that I thought ds was different left/right side but knew it wasn't obvious. He said it was to him and asked if he'd ever had an MRI. When I said it was clear it was implied he'd not expect that in someone with ds presentation.

He also began to get bigger 'episodes' than previously but I left it as nothing had come out of previous investigations.
Then beginning of this year ds had his worst 'episode' yet and I managed to get it on film. Ds then decided to inform me he'd had lots of the light disturbance episodes for previous few months too.
Showed his school nurse as ds had mentioned he'd had some in school and just gone to toilet and laid down until they passed.

School nurse asked if he'd had MRI/eeg and when I confirmed he had asked if I'd take him back to gp for referral to his neuro.
I did and saw him in summer.

We also saw another physio as I was concerned how much more ds was complaining of pain.

Physio said due to growing but very tight and have new exercises. She said he has sensory difficulties and so it's that but when I mentioned night spasms (because he was given night splint and was asked about his sleep). She was adamant I should mention this to neuro.

Neuro was still unsure of what episodes are but said as he has brief myoclonus during them and what appears to be noctur myoclonus he wanted to give him the once over.

He asked me about his arms - they don't straighten (well they do but ds can't do it!) and tested his reflexes which were mildly hyper reflexive.

Due to this he's referred him to tertiary neurology.

Ds physio rang today to see how he is and I said not best day to ask because we spent 5 hours at local attraction yesterday so legs are painful. Said loves splint and doing exercises etc. Said about referral to neuro.

She was very defensive confused said I MUST tell neuro his muscles are tight because he's grown. That ds is expected to remain in constant pain until he's finished growing because his muscles are so tight. She then said he's having joint podiatry and physio apt in Jan and that podiatry would g have given him orthotic insoles if he was too tight - no one said they would and that he can't have been tight etc. She was really funny with me confused
He recently saw podiatrist who asked if he's ever had an MRI?!

I just said no one actually knows what's going on. Clearly something is because teenagers don't lose consciousness and have myoclonus for no reason and you don't get pain for no reason. I said I think finally it's just everything and everyone is coming together to build a picture of ds and yes, something's have become more obvious and some muscles tighter but that I'm not telling a specialist muscular neurologist anything other than a history and answering his questions.

Sorry for essay! Thanks for sticking with me.

So AIBU to think just because no one can name his difficulties or find a cause on a MRI it doesn't mean it's 'just because he's growing' and I should allow this fresh pair of specialist eyes make his own clinical judgements and draw his own conclusions as up until recently I couldn't even get anyone to listen - let alone take me seriously because everything must be related to asd?

Ps if anyone has any ideas what it is please share!

hazeyjane Tue 24-Oct-17 19:27:21

Hello youare!

Sorry to throw a curve ball question in.....has ds ever had genetic tests?

hazeyjane Tue 24-Oct-17 19:30:03

....and YANBU!

Hazeyboy is the king of, unexplainable, undiagnosable, atypical and everyone's favourite descriptive....complex.

youarenotkiddingme Tue 24-Oct-17 19:44:26

No genetics testing.

I just find after doing stuff and hearing signs and symptoms I get asked "has he had an MRI" indictating to me his symptoms correlate with something they suspect. When I say it was clear it suddenly becomes 'nothing but a growth spurt!'.

I've often wondered about genetic testing and will ask neuro specialist why this was never done (ill check but I'm sure nice guidelines say it should be as part of asd pathway?)

hazeyjane Tue 24-Oct-17 20:03:57

We still get asked about MRI every time we meet a new Dr - ds has had 2, both clear, I was surprised when they asked for the second, especially as it was asked for by the geneticist, but it was because he has a very large head circumference. I still think there is a chance that if someone else looked at his MRI, they might see something there.....

The paeds were convinced that neurology would have an answer with ds at the beginning, and the first genetics test came back clear. Then we met the neurologist and he took one look at ds and said, genetics.

Ds has had lots of testing but no diagnosis, he is in the 100,000 genome study which looks at rare conditions and undiagnosed conditions that are thought to have a genetic connection. I have friends whose children have asd who are part of the study (as asd or autistic tendencies are often features of co morbid conditions). It might be worth finding out about it.

youarenotkiddingme Tue 24-Oct-17 20:16:39

Thankyou.

That's the thing I think. I understand they may not be able to diagnose and/or name what it is. Autism is obvious in him but it's no uncommon (as this said) for it to be part of something else - because it's a behavioural diagnosis (iyswim?). So many of ds delays are within triad of impairments. The many that aren't can't be explained by asd - despite them trying numerous times!

I have stored up my sleeve "oh I didn't realise all teenagers got tight muscles that caused pain when walking during their growth spurts. None of my friends have ever mentioned this with their children"

I think physio isn't looking beyond the fact the increase in tightness ATM is due to growing but tightness itself is not part of growing. It's not a normal reaction and combined with everything else it's nothing new just because it's suddenly been noted!

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