Viewing 4 posts - 1 through 4 (of 4 total)
  • #126785
    Son diagnosed with CMD

    Hello my son Jacob 2years8month was diagnosed in july 2014 with merosin deficient MD. Turns out me and my partner are both carriers which we had no idea about till Jacob was born. Just trying to reach out to other family’s who may know of someone with the same or similar condition as its that rare I cannot find out much information about it or anybody who has stories to share about living with the condition and the day to day challenges that we may face

    Thanks louise :new:

    Loutaylor
    Participant
    Posts: 0
    Joined: 07/04/2016
    #126786
    Reply To: Son diagnosed with CMD

    Hi Louise, I’m glad you’ve found the forum. :welcome:

    I have a type of CMD called Ullrich CMD. I know of the merosin deficient subtype as I was tested for it in my twenties when the doctors were trying to pinpoint my condition genetically.

    I know of another lady with Merosin Deficient CMD who I will ask to pop by and say hi.

    Amongst the different CMDs there is a certain amount of crossover. What I have learnt in my 38 years so far is that there is no rule book. I have adapted to the changes my condition has brought about as they have occurred and I think many of our members will say the same.

    Please feel free to ask any questions. If one of us doesn’t know the answer we are usually able to signpost you to someone who does.

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #126787
    Reply To: Son diagnosed with CMD

    There is an MDUK factsheet on Merosin Deficient CMD

    You may well have seen this already. I don’t know what it is like from a parent’s perspective but there is support out there with many aspects of living with MD and there is so much more known and understood now about the various conditions.

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #162815
    Reply To: Son diagnosed with CMD

    Hi Louise, My son also called Jacob was diagnosed with CMD May 2016. They have not given us an exact subtype as he is the only one reported worldwide which has this specific Lamin mutation. We are uncertain what will happen and how quickly things will happen for his future. He is now 4 years old and he starts school next year so I feel very anxious about this.

    It would be lovely to talk to you or even meet if you live locally?

    Kind Regards,
    Lydia Ackerman
    You can always find me on Facebook :waving:

    Lydiaackerman
    Participant
    Posts: 0
    Joined: 30/07/2018
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