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

That's interesting thanks ... do you have any opinion towards GA v sedation? As I understand it (which isn't much at the mo) the sedation is oral so that to me sounds great. GA would be IV via hand yes? DS wouldn't be non to keen on that.

Thanks cestlavielife ...
there was no traumaic birth as such although it was a ventouse delivery (does that qualify?) No loss of oxygen or anything really. No incident/accident/trauma anywhere. Pregnancy was smooth and delivery at full term. Healthy birth weight and good apgar score.

Bit of a minefield isn't it (and i'm only just starting out) they may find something which means something but they may not find anything but it still means something lol. Crikey it's a wonder we keep up

I suspect they won't find anything of any significance but time will tell. The micro array would be interesting to find out so i'll mention that at the follow up (january).

How is your son these days?

At 5,5 was, very delayed... Still is at nearly 18 but many with his micro deletion have much milder issues. The fact your son is only mildly delayed at this age may just mean he continues mildly behind.,, maybe in long term it won't be a big deal. Focus on his abilities and his interests .

Hi, my DD has had a few brain MRIs. We tried the first (aged 6) without sedative or GA because the neurosurgeon thought that she was about the age to manage it. She was terrified though and it was a disaster. I practically climbed in the machine beside her but there was no way that she would have stayed still enough with her head in holder thing that the machine has, and the banging noises just scared her. I felt that it just wasted precious MRI instrument and staff time. Next round we were told that sedative was unlikely to work on her age group. I'm not entirely sure why, but we just went with GA. The amount of anaesthetic that they use is very small and it really is fine. Yes, a cannula is involved, but childrens hospital staff are used to doing this in the best way possible for children eg using magic (numbing) cream. We can go home a few hours after the scans. Wishing you all the best with all of this....

Ds1 has has two mris, the first aged 2 with sedation but it didn't work, he fought us and was very strong it took two adults to hold him down as he wanted to run away but was wobbly, he then started to sing and shout and was doing a drunk piratey voice.at the time I was upset but looking back it was hilarious. They nearly had to cancel the MRI but he fell asleep in the buggy and we cautiously moved him to the scanner.
Second was with GAwas so much better for everybody and was ds was fine after.

Good luck