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Original poster

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

41 replies

WorzselMummage · 19/09/2011 12:16

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.

:( :( :(

OP posts:
coff33pot · 19/09/2011 12:34

:( I am so sorry you have had news like this so unexpectedly.

Try not to worry the Dr said COULD have. A wonky gait could be a whole lot of different things not just MD. I hate it when Drs come out with a maybe or a could have as until tested its all supposition and no wonder you are worried.

I hope you sorted out the limp and that he hasnt done any damage to himself by falling x

rabbitstew · 19/09/2011 12:35

There are many, many things that could be causing your ds's problems, including other types of muscular dystrophy, the vast majority of which are FAR less serious than duchennes, so please do NOT assume your ds must therefore have duchennes and look into the details - there are thousands of other things it could be. Duchennes will only have been mentioned because it is the most serious thing that could be the issue and it can very easily be tested for, so it is the first thing you would want to rule out. It is a very long way from being the most likely thing to be causing your ds's difficulties.

Wishing you all the best.

Chundle · 19/09/2011 12:39

Hi same as rabbit stew really there are other types of MD not just duchennes. My friends boy has duchennes he is 3 and cannot walk at all so it is the more severe form. Please don't worry yourself sick I know it's hard :(

bigbluebus · 19/09/2011 12:58

Oh Worzsel - Did the Dr that said this come to this conclusion after just seeing your DS in A&E for a brief visit or are there things in the notes that have been said by other Drs?. There are many other factors in your DC's history to lead to the possibility of something entirely different.
MD is an inherited disease - are there any other family members who have similar symptoms - eg wonky gait, fell over a lot as a child.
If MD is suspected then your DS will need a muscle biopsy to confirm but as others have said there are many different types of MD and other neuro muscular disorders. There sre only a few specialists in the country who are qualified to diagnose this condition accurately. My child doesn't have this condition but DH works with adults who do.
Hope you can get tests done asap to hopefully put your mind at rest. See if you can get the paed appointment moved to an earlier date. Ring secretary and say you will take a cancellation (if possible).
Thinking of you and sending hugs.

Original poster
WorzselMummage · 19/09/2011 13:09

He didn't have his notes to hand and couldn't have got them quickly if he wanted to, there's loads of them, literally tons and tons!

I don'd know why he would have said it whether he thought it or not, a dr would never say, it could be cancer or it could be AIDS if they didn't have actual proof, would they?

Thankfully we are not far from Birmingham Children's and presumably there will be a specialist there. I will phone paed and might try and get a cancellation with my GP later for a chat. I suffered horrible with anxiety when George was tiny and have only just come off the meds. How long will a specialist appointment take do you think? I dont think my mental health will stand up to much waiting.

Afaik therebhas never been any MD in either family.

Thanks for the support, I am so Shock

OP posts:
mariamagdalena · 19/09/2011 15:24

I did a big long post and lost it. Load of Bs about Duchenne's. Of course you are right and if it's anything, it's probably CP.

Get your GP to raise a massive stink about the hospital letting their junior doctors scare parents silly in A&E without calling the boss.

Then turn this to your ds's advantage by getting the consultant to hurry up and confirm or deny your very sensible diagnostic hunch. We'll see you back on the boards then to find out how your ds's physio is going and chat about all things mobility related.

Original poster
WorzselMummage · 19/09/2011 15:53

Thanks Maria, theres absolutely something going on, he's not right at all. The 'fall' was only falling off a tiny raised display thingy in a sofa shop, bout 2 inches! He's always fallen a lot but it seems to have really knocked him about and he's stumbling around :( we went to a party at a play barn on Saturday and he was climbing and swinging with the best of them, he was fine one minute and hobbling the next. I thought he had dislocated a hip.

I spoke to my mum and she's furious with the dr, as am I now!

Tried Georges consultant, he's been on holiday for 4 months and I'd back in 2 weeks. Secretary said she'll .see what she can do' I can't wait 2 weeks :(

OP posts:
anonandlikeit · 19/09/2011 16:21

Hi Worzelsmummy,
My ds2 was born at 28 wks & has very mild CP, we also have DMD in our family.
Before DS2 was Dxd with mild CP he was described as having "delays" eventually i asked our paed outright if it could be DMD (I was scared he'd think i was neurotic).
He said that many ex prem babies have variable muscle tone & areas of low tone which can look like MD, many of these babies go on to have dx of mild CP.
He advised us to rule out (or in, in our case) CP before we considered muscle biopsies & genetic counselling etc.
My cousin with DMD, walked a little later than average but then around the age of 3 or 4 started to show a weakness in his legs, initially dragging one leg a little, he went on to be tested (for various things) and was eventaully dx'd with DMD.

Its very unprofessional for a DR to make sucha statement either verbally or written as all children present differently if they have CP, MD, motor delays or some other condition.

Original poster
WorzselMummage · 19/09/2011 18:22

That's Anon that is so reassuring. I could kiss you :)

George has always been wonky. He's never walked 'normally', he doesn't like to conform to societys norms Grin it had never occurred to me that it might be something degenerative though so hearing that the dr thought it could be was like getting an unexpected punch to the ear :(

I've had a nap (as I've been up since 6am yesterday) so I don't feel quite as neurotic anymore. Dh is out for curry and I have wine. Then sleep!

Tomorrow I start the onslaught on the medical profession to get some answers.

Thank you all :)

OP posts:
anonandlikeit · 19/09/2011 18:26

You're welcome, Wine & sleep always helps! I know it varies form area to area but here any nbaby born less than 30 wks is automatically followed up by physio.
Does your ds see a physio, if so I'm sure they would of picked up any signs of MD.

Original poster
WorzselMummage · 19/09/2011 19:05

He had quite a lot of physio and OT until he was about 20 months ( he's 3 in December) which was just when he started walking and was then discharged. He had an in depth assessment with a child development specialist at the beginning if the year and we see our HV every couple of months or so. It's always been noted that his gait was weird but it's always been Just George iykwim and we've been happy to leave it. Our consultant has been shit, for want of a better word :(

OP posts:
sneezecakesmum · 19/09/2011 19:50

DMD is not a common disorder and I think its a bit far fetched to speculate when the most obvious cause is prematurity and mild CP. When you hear hoofbeats, don't look for zebras!!

Original poster
WorzselMummage · 19/09/2011 19:53

Oh i so hope you're right sneeze :)

OP posts:
mariamagdalena · 19/09/2011 20:22

Worzsel, if you're near Birmingham children's; you could always go A&E in the morning and politely INSIST on seeing the consultant paediatrician responsible for the unit. After all, you have a poorly child, and haven't been given enough information for you as a poor deluded parent to know that suspected Duchenne's isn't an accident or an emergency Grin.

CP in

ouryve · 19/09/2011 21:34

Seems a rather unpleasant way to scare, you without any sort of accompanying counselling, WM. To be honest, the injury you described could easily have happened if your DS has hypermobile joints - both DS2 and I have had quite awful injuries arising from goodness knows what because of our hypermobility. If your DS has low or unbalanced muscle tone due to cerebral palsy and has lax ligaments, too, that could very easily explain such an injury from such a small fall.

lifesamerrygoround · 19/09/2011 21:38

Hi,
DS was referred for concerns for this too. Luckily we got the all clear
He was very stiff, could not run, jump, hop, climb. Walk very ackward at the age of 3. DS turned out to have DCD (Dyspraxia)
no limp and was full term.

Original poster
WorzselMummage · 20/09/2011 09:52

maria don't tempt me :D

ouryve hypermobility is something that i had thought about before. George is very loose and flexible and when he walks he kind of propels himself along with his arms.. I know nothing about hypermobility though Blush does it actually mean hyper mobile? [useless]

Life how long did the testing process take? I'm glad your son got the all clear :)

I have a friend coming round this morning and an appointment with a GP this afternoon so hopefully she can clarify things for me a bit.

OP posts:
bigbluebus · 20/09/2011 12:46

Worzsel Hope you get some sensible answers out of your GP this afternoon. Do let us know how you got on. Fingers crossed for you.

ouryve · 20/09/2011 14:29

Worzel - it means the ligaments which support joints are stretchier than normal, so it's easy to bend the joint too far and strain or even injure it.

ouryve · 20/09/2011 14:33

So yes, it does mean exactly what it says - joints can move more than normal, so hyper mobile. It can be a symptom of something, or can exist on its own - I have benign joint hypermobility syndrome, for example. I was only diagnosed the other week after seeing a rheumatologist for chronic joint pain and arthritis. DS2 was diagnosed by a physio a couple of years ago when his OT became concerned about his unsteady gait (he was a very late walker, too)

Original poster
WorzselMummage · 20/09/2011 15:13

Worzsel Mummages Husband here, Adam

The more i think about it the more furious i get that the A & E Doctor has even mentioned it to us, i just dont think it's fair or right!

OP posts:
bigbluebus · 20/09/2011 15:37

Unfortunately Doctors are only human and some of them are guilty of thinking out loud - I have been victim of this many times over the last 16 years in my dealings with Drs involved in DD's care - although never about anything as stressful as your experience. Equally there are Drs who don't tell you what they are thinking and you have to drag it out of them.
Hopefully you will get some answers and reassurance soon from GP and/or paediatrician and put this down to experience.

TheHumanCatapult · 20/09/2011 15:49

hi hope your ok , ds is similar not waked to 3 very odd gait even now and falls but he had EDS ( abet a rarer one )

oh and pop over to teh hypermoblity thread and ask away if you like theres a few of us with dc that have hypermoblity/eds

Original poster
WorzselMummage · 20/09/2011 16:58

Gp was lovely and is on the case. He said he'd write and say that he wanted us to be seen immediately so hopefully it wont be too long.

He was aghast that the Dr at the hospital had said it, he said it's not something that you can ever diagnose just like that. Weirdly I have a friend with a baby going through the diagnoses process for something genetic and it's taking them ages to get them all karotyped (?) and they have had to give a massive family history and the their boy has had loads of tests and there is obviously something going on with him and they are still not jumping to conclusions. I am so angry at myself for not pulling the Dr up on it straight away, normally i would but I was at the hospital after a 12 hr nightshift so only just functioning. I am so pissed off he's left me feeing like this :(

Georges limp seems less obvious today though, which is good :)

OP posts: