Muscular Dystrophy

[Carriel]

Does anyone know anything about this condition, particularly anything new and encouraging? An old family friend (I grew up with him) has just found out his little boy has MD. I feel so sad for him - we saw each other recently (pre diagnosis) and our sons are about the same age and he was moaning that his son was so placid, not walking at 18 months etc...And now this. The only advice they seem to have been given (according to my dad, it's all a bit second hand as I don't live nearby) is to enjoy him while they have him, but not to expect too much in terms of life expectancy and what he can achieve physically. I want to get in touch and say that I've heard about the diagnosis and offer - what? sympathy? I can't do much to help in practical terms..so if anyone has heard of anything new revolutionary or just helpful, I'd be grateful. Also any advice on what to say when I call, witout sounding too crass would be good

No info on MD sorry but a little advice on how not to respond, family members after hearing DD had Cerebral Palsy went to pot, ignored us for a while as they didn't know what to say/do??
for christmas presents even bought babyish toys(although DD was 2.4months)
Some family members had a real big shock at a recent family reunion when DD was seen for the first time in 6 months
Can't wait til a family wedding in August to see the faces of those that still haven't contacted ud directly....
DD is a normal bright 2.10 month old but has walking problems....so what!!!!
Practical advice I'm sure some Mumsnetter will come up with but try and make sure they are getting all benefits/therapy that they are entitled too-no one tells you unless you ask....

Carrie, this might be worth looking at.

As for what to say, well I would probably just ask how they were feeling and coping with the news, and offer to be there if they need to talk. I am sure they will be pleased that you have even called them, so many don't bother for whatever reason. Just keep in regular contact too. We have found that many times we have been offered help and support by people , but when the time came to take them up on it, they were all "unavailable".

What an awful thing for them to be told.

I think the best thing you can do is be there and stay in touch. It's amazing how a child becomes invisible to so many people once they have a diagnosis. I really appreciate the friends who remained in touch and continued to ask after ds1.

And yes they need independent benefit advice.

Hello Carriel. I know a bit amount about muscular dystrophy, scientifically. There are actually some very hopeful studies that have been published recently. One team has managed to cure a strain of mice that get MD using gene transfer (injected directly into muscle), and there is a protein called utrophin that seems to look promising. The real problem is offering false hope- if he has severed Duchenne MD (and it sounds like it from what the parents have been told) then there are very hard timescales to deal with. The gene therapy that works in mice will have to go through several rounds of clinical trials before it can possibly be considered safe and effective in humans (and myabe it won't be), and your friend's son simply may not be here for long enough. I'm really sorry even typing that, it sounds so harsh, but there can be huge problems with raising people's expectations. It is genuinely possible that interventions will come along, though. Terribly hard to know what to say. The only other thing would be to check that it really is Duchenne MD- boys with Becker's MD can live long and healthy lives with only mild muscle weakness.
I can give you references for some recent advances if that would help and you decide you want to encourage them, just let me know.

A bit amount? Sorry, I obviously know a lot less about grammar!

It is very hard to know what to say, if you want to make contact then you should certainly let the know you know and just offer a sympathetic ear if needed, if you aren't in a position to offer practical help.

To get more information you would probably need to know what kind of MD the little boy has. I found this to be quite a through introdution to the diffent types of MD.

My cousin died when she was 6 of a very rare (she was only the second person know with her particular type)kind of SMA type 1. It is probably the hardest thing in the world to watch your child deteriorate, and if you dad is right about the parents being told to enjoy what time they have then, then this may be what they are facing.

just offer your support Carriel, you obviously care about them as you are posting on here and Im sure it will help them to know people care and are thinking of them. Unfortunatley I have found out that sometimes when something bad happens to you, you find out who your friends are. People who you thought were your friends sometimes disapear, cant cope with it, and this is all you need when you are at a low point. Dont know much about MD, sorry.

Thanks so much everyone for getting back to me. You have spurred me on to phone - you're right folks do disappear when things go wrong. Also if I can find out exacly what's wrong I'll be more use when canvassing people lie you for advice. Thanks again. I'll let you know how I get on.