Just back from A&E, Dr said he thinks my 2 year old could have Duchenne Muscular Dytrophy.

[WorzselMummage]

He said it in passing as we were about to leave. He'd written my Gp a letter about referring us to a specialist with
possibly duchennes writer in big letter, incase we missed it :(

George is 2, i've posted before about his wonky gait and inability to run and jump. He was premature, 27 weeks, and has always been physically less able than his peer. We thought he had mild cerebral palsy, we've been fobbed off trying to get a paed appt but have one in november, finally.

We only took him as he is limping after a fall yesterday. I wish we hadn't.

:( :( :(

Thank goodness for your GP. mariams statistics were spot on, I'm sure it will be fine in the end. As if we don't have enough shit scared out of us all as it is!

George is still limping quite badly. I have him some pain relief as we've both got horrible colds and it doesn't appear to have made any difference so maybe it isn't pain, maybe it is muscular, maybe it is duchennes :( I am so fucking anxious, it's all I can think about :(

Our lovely Dr has arranged for us to have a double appointent with him on monday morning and hes going to get the duchennes guy from BCH on the phone to run though some tests. G seems to have full range of mobility and is using both legs the same but limping on the left.

Everyone we speak to is pissed of at A&E guy but it's done now, he's planted the seen in my mind.

have they definitively ruled out a toddler fracture? These can be missed on x-ray - particularly for very little children. My DS had this (he was 5). I have heard that in some cases, the fracture is not confirmed until it is healing and bone scar tissue shows up

From wikipedia:

Typical symptoms include pain, refusing to walk or bear weight and limping -bruising and deformity are absent. On clinical examination, there can be warmth and swelling over the fracture area, as well as pain on bending the foot upwards (dorsiflexion). The initial radiographical images may be inconspicuous (a faint oblique line) and often even completely normal.[2] After 1-2 weeks however, callus formation develops. The condition can be mistaken for osteomyelitis, transient synovitis or even child abuse.

My DS had little swelling and no warmth. When he was eventually x-rayed, they did see a fracture - but it wasn't very obvious and he is quite a bit older than your DS

Sorry the doctor worried you so much. I agree with the other posters that it seems unjustified and, in this case, unlikely.

Worzsel Mummage this happened to us about 18 months ago. DS1 who was also early 'failed' almost all of his 2 year check - started walking very late, couldn't jump, couldn't really run, couldn't use trike, couldn't climb stairs, walked funny, fell over all the time. He even got up in a funny way using his hands - I think its called Gower's sign - that is classic for muscular dystrophy. He couldn't get up from a crouching position to standing. They referred us straight to the community paediatrician. When we got to the child development centre I remember the paediatrician's face just falling when she saw how DS1 got up.

Anyway many thousands of years later we got the test results back - I think it was for creatinine or something - and he was all clear. Physio said he was hypermobile in lots of his joints and had low muscle tone. He's still clumsy as all hell now but he can jump, vaguely pedal, still can't really use a scooter but he can run quite fast and doesn't fall over half as much.

I hope this is some comfort to you but I remember feeling so so scared. And people say 'oh its very rare' but when rare thinks have happened to you, like you having a baby at 27 weeks, it's not such a comfort is it.

ace The dr Only xrayed his hips and pelvis and said they were normal, I know fractures can be hard to see on toddles xrays though. I genuinely expected that he'd dislocated a hip.

Combine, I love that our names match :) Re Gowers sign, I read about that and G doesn't climb up his legs, he does get on to feet and hands though and stand up from there. He can squat and climb the same as before, he just cant walk. I just went to Tesco and he couldn't manage the whole way and I burst in to tears watching him wobbling about :(

Did the tests really take ages? Im so glad your son got the all clear, it must be amazing hearing that it isn't something so awful.

And you're completely right 'it's very rare' means nothing when you've been struck by lightening before.

I didn't think of the name matching! Good news about the Gower's sign that was the big thing that made our doctors concerned.

No idea at all why the tests results took ages, I suspect they may have forgotten about us a bit, but I believe genetic tests do take a while.

Very familiar with crying watching them, I had a particularly bad day once watching mine in the park getting up funny after a fall walking with his friends, they all ran off, he starting wobbling along and fell over again straight away.

I wonder if they ought to look at hypermobility, DS1's elbow used to pop in and out almost of its own accord (vom). It does run in families, are you or DH double jointed at all?

TheHumanCatapault upthread mentioned hypermobility and I had a look at the thread mentioned, there were some similarities so i'll mention it to the GP on Monday.

Before you have children no-one ever warns you about how bloody terrifying if can be, do they. You're prepared for the love and the mess and the stress but no-one ever tells you how scared you will be every time they are ill.

Worzel - how is George now? Do take him back for a full set of x-rays if he isn't fully weight bearing yet as soft tissue injuries resolve quite fast in toddlers, which means he should be almost back to normal if there is no fracture. With ds1 we waited 3days to go to a &e after being told by the local minor injuries place that he had a sprained ankle

Hi Worzel,
I'm not a mum but I thought I'd jump in and say hello :) I'm 20 and have congenital muscular dystrophy. Like others have said, it's very unlikely to be Duchenne; I'm so angry that the doctor even mentioned it! I don't want to overload you with information, but if you have any questions specifically please feel free to message me or post here! :)

George is almost walking normally, well, normally for him anyway! He was very stiff first thing this morning and he is still limping but it is much better that it was, it's got a bit better every day (with the exeption of thursday when he fell off the sofa asleep) He's been charging around with my dad all day and has only fallen over his normal amount so that is an improvement. He's been in a lovely mood all day, he's got a really terrific personality

We have a double GP appointment first thing tomorrow and will hopefully get some answers. I am starting to feel a bit more positive that it was either a toddler fracture or a pulled muscle or something but I still feel terrified it will be duchennes and the a&e drs hunch was right. I would like to inflict some of this bloody fear on him, so he can see how it feels :(

Ace, if it was a fracture would they just leave it to heal on it's own?

Kiattia, thank you so much for the post, I really appreciate it! you can be my MD contact.

So glad George is getting better. He sounds like a terrific little boy!

If it was a fracture, they would put him in a full leg cast (up to the hip) for 4-6 weeks. What made me think it was possibly a fracture, was the persistent limping after a small fall, which is apparently very typical. However, if he is improving already then it is unlikely to be a fracture . DS1 did not improve until his leg was in plaster.

Good to hear you have a GP appointment. I don't know anything about muscular dystrophy, but I hope you can take heart from some of the posts here. I hope your GP is able to set your mind at rest

Just back from GP. He said he thinks it very unlikely to be duchennes and if we had seen him in a&e it wouldn't have even crossed his mind. He said he's seen hundreds and hundreds of toddlers with similar issues and has never come across duchennes. There is one 28 year old with it at the practice and he had positive family history.

I feel 3/4 relieved, my anxiety won't let me relax fully.. It'll probably be at the back of my mind till he's 4. Or 24.

GP asked cons for appt this week so fingers crossed :)

This is all great news.

Understand about the anxiety not going away, if you're anything like me then because of everything you've been through before you can never get 'the bubble' back - you can never get back to feeling like everything will be ok because you know, however unlikely, that something can come and turn it all upside down again.

I have managed to get over the duchennes anxiety because the test for it is so definitive iyswim but then I will almost always 'choose' something else to focus in. If one of my children is fine I will worry about the other one. Once the anxiety over one child's symptom or illness is over, I find something else to worry about. I often write it down so I can see on paper how unlikely it is, I also witter on to my Mum at length who just listens and then I will argue myself away from the diagnosis! Awful when people add to the anxiety though like your a&e doc did.

Just back from a long appointment with head consultant pead and Physio and They have convinced me that George doesn't have DMD. We have been referred to the gait clinic but they don't see anything wrong with him.

Physio said he's probably just pulled a muscle.

Bloody junior Dr is going to feel the full force of my fear in the letter i'm writing his boss.

Thanks for listening :)

Combine, I hope your anxiety isn't too bad. Love your letter writing idea, it sounds really useful!

Fab news, hope the twattish junior doctor learns a sharp lesson now.

Anxiety very much under control now thank you, will always have tendency to look for the zebra not the horse when it comes to the children, just have to be aware of the tendency!

Good to hear Worzsel, just reading your thread, that would be extremely worrying, glad to hear he's been cleared.