Query over Muscular Dystrophy, beside myself

[AtWitsEnd21]

My DS is 20m. He has been walking since about 11m. He never crawled or cruised, bum shuffles around. He has recently made a lot of progress in his gross motor skills but still cannot pull up to stand. To get up he has always just cried and put his arms up and we lift him. We saw a physio recently and we discussed his progress and she was happy that, although he is delayed, he will get there with pulling to stand. He can kick a ball, stand from sitting, run, walk on inclines and use steps to get to a slide etc. but not able to pull up to stand.

We had previously been referred to a paediatrician who we saw today who is referring us on to a developmental clinic that focuses on motor skills. She mentioned they may want to do a blood test for muscular dystrophy. I am distraught. I did not expect this to be the outcome.

Can anyone whose toddler was diagnosed with muscular dystrophy describe their symptoms at this age? I’m in total shock.

Don’t panic. It is standard for paediatricians to do blood tests on boys with delayed physical development. For the vast majority this won’t lead to a diagnosis of muscular dystrophy. Google is not your friend at the moment so don’t go down the rabbit hole of googling

Thank you for replying. I didn’t realise that was standard. I was just so blind sided.

Bumping

Don't get ahead of yourself and there are lots of different variants of muscular dystrophy so even if it is muscular dystrophy there's quite a spectrum of how they will be impacted. The treatments and prognosis have also changed dramatically over the last 20years.

My cousin has a severe and aggressive form of muscular dystrophy. I'm not close enough to him to know the ins and outs of his life but I do know that when he was a child in the 90s his life expectancy was 16-20. He's had amazing pioneering treatment that has helped improve the prognosis and life expectancy of people with muscular dystrophy and is in his mid 30s with a life expectancy of 40s

It has been an incredibly difficult journey at times but one very different to the one they expected when he was diagnosed in early childhood.

There can be lots of causes of delayed motor skils, not all of them known at the moment. MD is just one cause and it doesn’t sound like he has a severe delay. Did the physio say anything about low muscle tone (hypotonia) or hypermobility? They are common causes of delayed motor skills and can have many causes. My daughter is much more delayed than your son but we don’t have a proper diagnosis yet other than hypotonia which itself is just a symptom.

The physio we saw felt he has a delay probably associated with never crawling or cruising (he was a baby with chronic reflux). Because he skipped these steps he didn’t develop adequate or necessary strength required to pull up. She was happy he is well on way, her exact words were he is on the upward trajectory, a very typical bum shuffler and will get there on his own pathway. She did not seemed overly concerned. So when the paediatrician referred us on and mentioned MD I was completely blindsided. He is improving all the time and can do so much I was so utterly shocked at this suggestion. I called today and clarified it is not an urgent referral and he is not symptomatic but obviously the concern about getting up remains which I do understand.

Apologies I hit post before I finished typing. What age is your daughter? Is she attending a physio or paediatrician? I have repeatedly mentioned I think he is hyper mobile in his hips, I am and I see some of the signs but this has been dismissed as he is not yet two and they are reluctant to diagnose this before that age

I had a boy bum shuffler who didn't attempt to walk until he was 22 months. No medical reasons that we know of and he's now an adult. I wasn't too alarmed as his older sister was similar.

My daughter is 3 in a month. She was also a bum shuffler and hated tummy time. She walked at 2.5 years and is doing great but still can’t run, jump or walk upstairs.

We see physio but so infrequently it’s not very useful. She was referred to a paediatrician who ordered some blood tests and a microarray which all came back normal. We were then referred to genetics who in turn referred us to neurology as they thought she might have a neuromuscular condition. We finally have the appointment tomorrow after a 6 month wait. We were also meant to have a follow up with the paediatrician but haven’t recieved an appointment.

I think the concern is that while he is able to walk and has been walking since around 11/12m he seems to have a weakness across his hips. This type of muscle weakness can be a presentation in muscular dystrophy. I think they would be less worried if he was late getting to the walking milestone but had mastered the pulling up first. But the nurse I spoke to said not to worry, it will be a few months before we are seen and hopefully he will improve during that time.

Gosh the very best of luck tomorrow with your appointment tomorrow, how are you feeling about it?
Very positive that the bloodwork came back with no issues. The physio said to us he would probably never be good at climbing and he really does struggle with the stairs. In my reading, a lot of times they can’t find a reason for the motor issues. Does your daughter have any other coordination issues? Have they ruled out DCD?

Thanks! Feeling nervous about the appointment but also just want to know what they will suggest and whether they will recommend further tests. I worry how DD will get on at school - she is summer born so will be starting young and likely to be still far behind the other kids. No one has mentioned DCD yet although from what I’ve read it’s not usually diagnosed until kids are older. I’m very uncoordinated myself (although I didn’t have a gross motor delay as far as I know) so I do wonder if it’s connected. DD is generally delayed in gross motor across the board so she’s quite clumsy and possibly a bit with fine motor but it’s harder to judge at this stage.

I hope the appointment goes well for you. Hopefully you will get some answers. Could you delay your DD starting school by one year? I know that probably has implications for nursery and childcare but could it be an option? You are right about it being too early for a DCD, maybe you could ask the doctor tomorrow whether that could be something to consider.
Did your DD pull to stand before she walked?

Muscular Dystrophy covers a whole range of conditions with varying severity and prognoses.

Muscular Dystrophy UK are helpful. I think they have a helpline you can ring.

(My condition comes under the muscular Dystrophy umbrella )

I don't think DD regularly pulled to stand before walking She was never interested in standing against furniture and it took her a few months after walking to be able to get off the floor herself (for example she never bothered to bum suffle over to some furniture to pull up).

I will think about whether to delay DD starting school based on how she is doing next year and nursery recommendations as well. I'm torn about this as she seems bright in other ways (loves books for example) and she is also tall and will stand out physically if she is the oldest in class.

Best of luck tomorrow with your appointment, I hope you get some answers 💐

Good luck with the appointment. No advice, just a handhold. I would guess MD is the kind of thing where they test if any kid vaguely has a symptom of it, because it's so serious.

It’s a pretty straightforward blood test, that can give a very conclusive yes / no answer.

So with any unexplained potentially muscle related issues in boys it’s a sensible piece of screening to do.

A bit like the police breathalyser pretty much everyone after a road traffic collision of any kind. They don’t do much ‘is this person probably drunk’. They do it to get a clear cut answer. Or pregnancy test for any child bearing age women for any vaguely tangentially potentially connected to pregnancy issue. Not because they think they are, but because it’s easy to get a definite answer.

Thank you for that, that is a good way of framing it.

The nurse said something similar, they were not suggesting DS has MD but rather they want to rule it out, it’s all about ruling out. Hopefully this will be the case for us.

Yes it seems that way. I checked and we are not on an urgent pathway and will probably be waiting a few months for the test. Our focus will now be on strengthening up DS as much as possible in that time.

I hope everything went well for you 💐

Thanks! The neurologist recommended some more genetic testing for conditions associated with ataxia/poor coordination and also wants to do an MRI to see if a certain part of her brain developed normally. I’m quite nervous about the MRI bit as it is done under GA at this age. He was confident that she didn’t have MD as her CK level was normal (high levels indicate muscle breakdown).