Neurologist appt / possible MD of some type / worried sick

[BobbyV]

Hi All, apologies in advance for the long post!

Am currently worried sick :( I have a 5 1/2 year old son who is just the absolute light of my life. He's always been late in meeting his milestones (sitting up/crawling/walking). He eventually walked at 20mths after taking him for a pair of boots and the shoe lady noticing that he rolled in on his ankles - I then took him to a physio who said he had soft double jointed ankles. This 'soft' ankle issue has always been the excuse for him being slower than his pears.

His behavior is great and he's well liked with lots of friends. He does have some slight development delays at school and has had speech therapy too. All in all though he's 'holding his own' and enjoying school.

Recently my husband noticed that he was walking with his belly stuck out giving him a exaggerated curve (lordosis) I took him to my GP who agreed but said don't worry. I couldn't take this for an answer so he agreed to do some xrays. The xray results came back showing a mild scoliosis (less than 5 degrees) which was a complete shock. Again the GP was dismissive but I insisted on seeking the opinion of an expert so was referred to an orthopedic surgeon. At that appointment the surgeon said that our son had an exaggerated knee reflect and that together with the lordosis/scoliosis and learning/development delays needed investigation by a Pediatric neurologist. So now we're awaiting our appointment at Oswestry. We've gone from noticing his belly sticking out to waiting for an appt at Oswestry in under a month!

We're both scared to death that this could be DMD. Although google is great it's also given us information overload and we're almost diagnosing this ourselves! Do these symptoms point to DMD or could it be something else? What else could it be? I keep looking for other tell take signs like enlarged calves (nope) gowers sign (kind of) and problem with stairs (slow and cautious but manages). Day to day he seems to be improving and to look at him you just wouldn't believe his could have something so severe as DMD but i'm petrified that this progress will plateau and decline

What can we expect at the appointment? I'm conscious of having complex/upsetting conversation with the consultant in front of our little boy who has no idea what's going on or why we/drs keep looking at his body.

I hoping that we'll get there and it'll all be nothing to worry about but at the moment i'm swinging between hope / hopelessness

Probs a bit of a long shot but is there anyone out there who's experienced/experiencing this? Or can off some advise?

Thanks x

Any advice ladies?

Hello, sorry you haven't had many replies.

Our ds had tests for muscular dystrophy, along with many other muscle disorders. He also has been delayed in all areas, but now this points to a genetic condition (he has other health issues, no speech and limited mobility and postural weakness)

We have found that if there is any concern, they test for the scariest things first, in order to rule them out, and then refine the tests to look at other things.

I'm really sorry that I can't be any more help. You may find some more answers on the sn children boards.

Good luck and let us know how your ds gets on.

To balance your fear a little, though obviously not able to take the worry away or make things right for you let me just tell you of my eldest DS.

He is 13. He has Scoliosis (mild) and is hypermobile (as am I and as is youngest DD). He is currently being tested for Autism, as he has some behavioural and learning/communication problems.

I hope that this might swing perspective back a little bit. Best wishes.

Hi, very similarly to Hazey my DS was tested for all sorts of dreadful illnesses including DMD with similar symptoms to your DS. Eventually it was discovered he has a genetic disorder (22q deletion) & whilst upsetting it was a relief compared to what we had steeled ourselves for.

Hi girls, thanks so much for your replies

Am feeling much more level headed now and have stayed off google

Will let you know how the appointment goes on friday

Hi All
We saw the neurologist yesterday who did a thorough exam and took extensive medical/family history.
She agreed that there is delay in motor skills and some (poss mild) learning/speech delays.
The plan is to rule out the 'biggies' first so she took some blood (little one non to happy with that) to test for creatine levels. She did say that she didn't think he has signs of DMD but possibly BMD
We've also been referred to Alderhey for an MRI (not sure i like the sound of that)to check for CP signs and to OT for physio. Also referred to spinal expert for scoliosis assessment. We should get the blood results on monday so that's the next milestone really.
Will keep you posted

DS who is now 4 had lots of neuro, blood and genetic testing when he was very young. He had poor muscle tone and a few other worrying signs. He was tested for the dystophies and some of the more common inherited diseases like SMA.

In the end it was decided he had benign hyoptonia and hypermobility. He too was late in meeting milestones and has mild speech delay.

As you have already identified an alternative diagnosis could be mild CP. We were told that CP is not usually progressive.

Also my really good GP told us that specialist paeds are used to seeing the rarer and unusual conditions - that's their stock in trade. Once you're in the system they tend to run a whole barrage of tests to rule stuff out. There's every chance that it is something more benign than MD.

Hi there. Glad you have had some responses now.

is there anything in particular that worries you about the MRI? Ds2 had one as a newborn so I'd be happy to allay any fears if I can.

Hiya

Thanks for your replies ... it's really nice to know someone out there is listening :)

Ermmm ... about the MRI ..... as I understand it (we haven't visited alderhey about it yet) it'll take about 45mins and little one (5.5 yrs) will have to lie still ---there's no chance of this without at least a sedative so that's what worries me really. The risks with sedative (and poss GA)
It's a test that I want him to have done but it's just the 'knocking him out' bit that freaks me a little. DH is dead against him having a GA

I don't suppose that anyone likes the idea of a GA but he would only need a light one. They do need to be very still for an MRI and it also depends on how happy your ds would be in a very noisy enclosed space. If he can keep still then he could have headphones to let you talk to him for reassurance, or to listen to music, or a story. Most parents go for a GA for this age group though, esp for whole body scans (for my ds2 it was just the head).
Good things about MRIs are the level of detail and the lack of radiation (ds2 also needed xray and a ct scan -which brought worries of their own).

DS had an MRI at 3 months and the pictures were almost unreadable as he screamed and screamed. Poor lamb. GA or heavy sedation is the least bad option probably. At least it will be over and done with and it won't have to be redone. [Flowers]

You know your child but lots of kids that age lie still.

They usually have a DVD system so the kids can watch something of their choice. Parents can often sit in to jolly the lying still along.

Having said that a Ga isn't that bad. Lots of info about kids and GA on the RCoA website. There is a patient/parent info section and stuff for kids.

Actually yes, that's true, your DS is much older and he may just lay still if he's told to by the radiologist . Often they will do things for other people even if they won't do it for you.

ds at 2 years old managed to be still for 20 minutes for a kidney scan with me sitting nenext to him and us watching Thomas tank engine, i was amazed how well he did!

Hope all goes well

Hmm he might. I've had a couple of MRIs in my time and don't understand how you can "sit next to" ?? Are childrens scanners different? I was completely enclosed in a tube so felt very claustraphobic

I'm a nurse. In my opinion MRI scanners can be quite scary for children as they make a banging type noise. Try not to let the thought of a GA bother you too much ( though it will I know). He will be awake very soon after and the benefit of this is not only will he be still but he won't remember the experience and so will not be scared if he ever needs another scan. Hope it all goes ok

Unless you seeing a real decline in motor skills it us unlikely to be a muscle wasting disease. But you can test for those anyway which you are doing.

Ga is best if they offer that for MRI most kids easily recover.

He May just have hyper mobility and that is it.

No there's been no decline in skills ...just late in reaching / learning them

Would hyper mobility explain brisk reflexes / scoliosis / learning difficulties?

Why would you say GA over sedation ?

Thanks

The scoliosis is v mild, many many people have it to one degree or another without knowing. Not sure about the other things but it may be just a random cluster of symptoms which don't add up to anything malign.

two of mine had sedation for procedures and both didn't wake up properly for 24 hours after ! both separately had to be admitted o'night for fluids. was supposed to be three hours - they both have hypermobility.

both however have recovered very well and rapidly form general anaesthetic. for minor procedures . and were able to go home within hours afterwards.

weirdly.

my son has at times had some brisk reflexes but has low tone hypermobility and LDs..eventually was diagnosed with a chromosome micro deletion syndrome. a geneticist might see if your child has features particular to certain syndromes and can order a full microarray of chromosomes which looks in fine detail.

my dd has only had low tone hypermobility - no cognitive issues . micro array fine. (but has some anomalies on MRI which clearly have not affected her cognition and learning)

Thanks for the info - i'll be sure to discuss the pros/cons of both GA and sedation with alder hey once we get out appt

Can I ask what chromosome micro deletion syndrome your DS has? feel free to tell me no .. i understand it's private :)

The neuro did mention micro array but assume down the line if nothing is found on the MRI. What tests did your DS have before they did the micro array?

I used to work for a paediatric neurologist and they did many MRIs under GA each year without incident. I understand it's scary, I would worry as the parent too, but it really is fairly routine :) You'll need to sign a consent form for GA anyway, if you decide to go down that route, so do use the opportunity to talk through all your concerns with staff.

ah but some things on mri are consistent with certain micro deletions...so one doesn't rule out doing the other...a combination of dev delays would make a micro array quite a common request these days - my son's wasn't done til 2010 as it wasn't available when he was younger. so he had many tests mri, diff blood tests etc. mri shows some minor anomalies eg thin corpus callosum, and a kind of pvl. he has a microdeletion on chrom 17.

MRI - if it shows a very specific structural anomaly might mean something (or not)

if it shows evidence of eg a bleed or damage consistent with a traumatic birth then that could be CP. was there a specific traumatic birth loss of oxygen ?

but you may get something not quite right but the significance isn't clear "nonspecific fnding"

or completely normal. which doesn't rule out an underlying genetic based disorder.