Muscular Dystrophy Fear

[Tcr1987]

Hi

I’m hoping for some reassurance (while I wait for a GP appointment).

My son is 2 this month and I’ve been increasingly worried about his gross motor skills. He’s been walking independently since about 15 months but you wouldn’t know it - he still gets down on his knees to go down single steps or a curb and doesn’t have the strength to walk up the stairs. Even with my hand for support he puts his other hand down and pushes up. I should also say he was very late being able to hold up his head during tummy time (~4-5 months).

Since he’s been born I’ve been highly anxious about his health and am now worried about a life limiting diagnosis. All the milestone lists seem to tell me that he should be able to walk up stairs by 2 but he’s not even close.

I’m looking for some reassurance from parents who are/ have been in the same boat please, that this doesn’t need to mean something as serious as Duchenne.

Thank you 😊

Hi @Tcr1987 i came across your post as currently it is suspected that I have a muscular dystrophy which I also most likely passed onto my baby son.

I know your post is old but I wanted to reach out as no one answered it then and also wanted to ask how are you and your son doing now?

Hi,

Sorry you gave similar concerns. We were referred to a physio after flagging up concerns at his 2 year check. He was diagnosed with severe hypermobility and given a lot of strengthening exercises to work on. They told me he should ‘catch up’ with the other kids by age 3, which has definitely not happened so it is always in the back of my mind, but his ‘weakness’ is not as evident as it was.

I also have hypermobility but not to the same extent as my son. His younger sister is showing no signs of it thankfully.

I hope you get some answers soon. Are you getting genetic testing for yourself?

Thank you for your reply @Tcr1987 , I am glad that it turned out not to be the worst for you.

it is me who is most sympomatic at this stage but my 6 months old is delayed with his gross motor skills. I am having a diagnostic test tomorrow, at this point it’s nerve conduction study not genetics yet. I am praying it will be something else rather than dystrophy as just don’t want my son to be I’ll.

Wishing you all the good luck for the tests. Can I ask which type of dystrophy is suspected?

My son had a CK test and I remember the agony of waiting for the results. They did come back elevated but not to a degree they were concerned about. When I was in the thick of 100% believing he had Duchenne or Becker I just kept telling myself how rare they both are. That helped slightly.

Really hope you find it’s nothing serious for you both and that you’re coping ok in the meantime.