Just diagnosed with Becker Muscular Dystrophy

To Andyb,

Andy,

Tried sending a private message as it seemed a good way of replying directly, however it just seemed to remain motionless in my outbox – so I’ve posted a general reply (which is probably better anyway).

Thanks for your post and I appreciate your advice about dealing with the issues with BMD. Like you I always led an active life and have enjoyed hiking in the Lakes etc. It must have been hard for you coming to terms with the advance of the condition since you were diagnosed, you sound like you’ve got a great outlook.

Like you, I’m from a science (engineering actually) background and I’m also interested in finding out about how research is progressing. I’m still in the early stages of contact with the medical fraternity, so I’ll reserve judgement on how good it is in Leeds (which is where I live).

Do you feel that awareness has improved much since you were first diagnosed? The internet must have helped enormously.

I believe that my deletions are also 45 – 55. What I find interesting is how variable the impact of the condition is on different people. I’ve obviously been very lucky to be relatively free of major symptoms and yet my brother, who has the same genetic deletions has been much more badly affected.

I need to find out more, I’m interested in the actual mechanism of what is happening, why the condition is progressive etc. I’m trying to stay fit and lose weight, although this has been blighted somewhat by recently having keyhole surgery on my knee!

When is your baby due? Congratulations! It’s fantastic having a baby, my daughters were water births – which is amazing – they don’t really cry much and also you seem to get much better facilities – so bear it in mind!

Anyway thanks again,

StevieG

@theroyster wrote:

Hi, I was diagnosed with Becker at the age of 49, but you may be interested to know that after a second biopsy which was taken for my daughters benefit (possibly starting a family) I was then diagnosed with Limb Girdle 2i (LGMD 2i).
It may be worth having a word with your consultant as there other problems to be thought about.

Thanks for your advice TheRoyster! This forum is brilliant, it really is a great way to meet up with people with similar issues. Do you mind me asking how old you are now and how you are doing? I don’t really know much about Limb Girdle Muscular Dystrophy yet, how does the condition manifest itself that’s different to Becker? When is a biopsy needed? Sorry if I’m bombarding you with questions I’ll look some of this up as well.

Regards,
Steve

@irishgirl112299 wrote:

Hello:

I am very sorry to hear about you BMD diagnosis. One thing you can be very thankful is that you do not have Duchenne and that you are still doing very well. You mentioned that your brother, age 53, has Duchenne MD? Has he undergone genetic testing for that diagnosis, because I have never heard of an individual at age with DMD. Is he even in a wheelchair? That is pretty impossible and if he’s not not genetic testing – he really needs to.

For your diagnosis of BMD, be thankful for what you do have. We never know how we will exit this world and if, at your age, you are just getting diagnosed now, you are doing extremely well and can live a long and wonderful life.

It seems very hard to believe your brother has DMD. Most folks with this diagnosis find out in very early childhood – between the ages of 3 and 6. They do lot live to see age 40 – if that. My son was diagnosed with DMD at age 8 – and he is A-typical. Your brother would have to be a miracle.

Good luck and remember, this is not the end of the world – just take care of yourself with regualr check ups and you will be grand.

Thanks irishgirl,

I think you’re right about it being unlikely that my brother has Duchenne, however when I spoke to him he was quite clear that this is what he had been told, and he did have genetic testing. I need to speak to him more about the subject he has possibly been given wrong advice, apparently his consultant said that because of the size of the genetic deletion he is suffering from DMD however, this explanation doesn’t really agree with what I understand – I will post what I find out as I find it. I’m sure your knowledge of DMD exceeds mine however.

I’m really sorry to hear that your son suffers from DMD, how old is he now? What is he into? Thanks so much for your advice, as I talk to more people on this forum I realise how lucky I am and how important it is to make the most of each day!

Steve