Viewing 9 posts - 1 through 9 (of 9 total)
  • #74587
    Emery Dreifuss – help!

    @donnat3812 wrote:

    Hi

    My names Donna and my 12 year old son was diagnosed with Emery Dreifuss MD in November last year.

    He is starting to struggle with school and was hoping their is someone on here who can help me understand
    what the future holds for him as the muscular clinic he attends can’t seem to tell me much.

    Thanks
    Donna

    Hello Donna

    I have started this new thread so the replies don’t get lost in others that posted on the ‘hello” thread.

    Welcome to TalkMD, so nice to have you with us. There is a mine and breadth of info and experiences about the board. It can be very difficult to know for sure how things will be as each and everyone of us reacts differently, some progress quicker than others, some don’t fit in at all to the ways of the disease, but yu shuld be able to find a basic very generalised idea of EDMD.

    Here is the link to the main site with the factsheets and info about Emery Dreifuss

    Also, are you i contact with your local Regional Care Adviser? Theyare absolutely brilliant and finding info and supporting you and your family, you can find the contact details for the one nearest you HERE

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #86675
    Re: Emery Dreifuss – help!

    hi donna. im stefan, im 41 and i was diagnosed at age 6 with edmd. first of all welcome and dont be afraid to moan away. ok, what are you wanting to know? :D .

    stefan

    littlestef
    Participant
    Posts: 526
    Joined: 04/10/2011
    #86674
    Re: Emery Dreifuss – help!

    Owens had problems since birth and it was just by chance of a doctor speaking to another doctor that they diagnosed him.

    They have already said it had started to affect his heart but nothing that needs treatment yet.

    First of all, will he definitely end up in a wheelchair? The thought breaks my heart!
    He has already had Achilles’ tendon lengthening 3 years ago, before he was diagnosed and is now back on his toes and really tight therefore struggling with school, by thurs he is exhausted. Is this a sign his muscles are deteriorating and how long does he have left to be a normal child?

    Also does everyone suffer from respiratory problems? It has already been identified that he is a difficult intubation whilst having past surgery.

    I know you probably can’t answer my questions as everyone is different but it’s nice to know there is people out there who are dealing with it. Owen is such a lovely lad and I’m so proud of him and wish I could take it away

    Thanks for letting me ramble on, it’s nice just to talk to someone who knows more than me.

    Donna

    Anonymous
    Inactive
    Posts: 0
    Joined: 01/01/1970
    #86678
    Re: Emery Dreifuss – help!

    hi, Donna

    its hard to say what will happen and when (sorry not what you want to hear) but my best advice would be to enjoy life and treat Owen the same as you would have done otherwise. Its probably not a case that his muscles have got weaker but that he is expected to do a lot more at school than he did last year, and with shortening Achilles’ tendons.. have you considered a power scooter, the the type the toyshop has for when hes out playing at home. Owen will still be Owen but less tired and he could get about with his mates.

    I mentor a girl age 12 with an unknown MD. she was scared of upsetting her parents by asking for a powerchair/scooter but was really struggling couldn’t go out to play without her sister(who piggybacks her about) and really didn’t want to have to really on her friends when she goes to high school. It was the same with my own mum when I starting using a scooter at 25. I tried chairs at the time but the look on her face made me feel bad that she felt guilty. :( . Just make sure owen knows that you are ok with him wanting one.

    breathing:- not everyone who has MD has or needs ventilation. but most have trouble breathing. if you think about it this way- weaker MD lung muscles have to work 3 times as hard per breath per step than your average person. so really Owen is getting a workout every time he moves. so power-chair would let him go out at break time without the fear of falling and the confidence that he would make the loo in time. he would have more energy for moving about the class room and learning.

    Donna I wish I could give you a hug. everyone on talk MD has had to really on wheels at different time for different reasons.
    you might be surprised how much extra energy Owen would get by being a part time user.

    remember Owen will still be Owen no matter what will happen just make sure he knows your cool with it.

    take care

    Cat

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #86673
    Re: Emery Dreifuss – help!

    hi donna. first of all , he is normal and always will be :evil: . speaking from personal experience, i didnt have problems with my heart untill i turned 29 and was diagnosed with AF. this has involved me having a pacemaker fitted. you havent stated how old your son is. i had my tendons lengthed at the age of 14 and i was told that i may have had to have this operation again.
    now, if your son is like i was and sometimes cant be bothered walking because he knows ones parents will pander to him (like i did with my grandparents), he will not benifit and his legs will become weaker through in activity. were as my mother used to make me walk to school and back every day. i hated her for it at the time but i think its kept me more mobile and out of a wheelchair. and its only now at 41 my legs are becoming weaker.
    does your son swim? swimming will help him no end. as will sending him out to play with his mates.
    last of all, dont be scared. hes not made of glass and wont break if he falls over. :lol:

    stefan

    littlestef
    Participant
    Posts: 526
    Joined: 04/10/2011
    #86677
    Re: Emery Dreifuss – help!

    Hi stefan

    Owen is 12, 13 next week ( god that makes me feel old,lol).

    He had his Achilles’ tendons lengthened when he was 9 years old.
    You are right, I probably do wrap him in cotton wool a bit too much by taking him to school every day in the car but find if he does too much it’s effects his lower back and can take upto 2 weeks to recover. He does go out with his mates on a night sometimes but I do tend to let his mates come in the house. Will try and make him go out more often.

    He has hydrotherapy once a week which does help him loads but he doesn’t particularly like swimming much.

    Once again thanks for your support.

    Anonymous
    Inactive
    Posts: 0
    Joined: 01/01/1970
    #86676
    Re: Emery Dreifuss – help!

    ouch 13. the aliens are coming to take your loving 12 year old away and replace him with this thing that is scared of baths and only communicates by grunting :lol:
    if theres anything else you or your son are wondering about with the edmd, just leave me a private message and i’ll get back to you. always remember moaning is the only free thing left. :D

    stefan

    littlestef
    Participant
    Posts: 526
    Joined: 04/10/2011
    #86679
    Re: Emery Dreifuss – help!

    hi Donna

    I am 47 and my 2 adopted sons have EDMD,they are 28 and 30 yrs old.

    I can tell you stuff that happened to us/help/advice if you want any?

    It is clear that my sons have different degrees of this condition, both have pacemakers fitted in past 5 years.,but the eldest is more severely affected physically.,always has been.No two people are the same.

    hope i can help :)

    victoria
    Participant
    Posts: 4
    Joined: 02/03/2011
    #86680
    Re: Emery Dreifuss – help!

    Hey guys. I realize this is an old thread. Just thought perhaps i’d bring it back to life :D

    My name is Daniel, i was diagnosed with X-Linked EDMD when i was 6.

    :new:

    HolySpiritHeals
    Participant
    Posts: 2
    Joined: 23/09/2013
Viewing 9 posts - 1 through 9 (of 9 total)

You must be logged in to reply to this topic.

Keep in touch