April 7, 2016 at 8:19 pm #126785Son 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 louiseLoutaylorParticipantPosts: 0Joined: 07/04/2016April 7, 2016 at 9:19 pm #126786Reply To: Son diagnosed with CMD
Hi Louise, I’m glad you’ve found the forum.
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 Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015April 7, 2016 at 9:29 pm #126787Reply 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 Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015October 8, 2018 at 2:22 pm #162815Reply 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?
You can always find me on FacebookLydiaackermanParticipantPosts: 0Joined: 30/07/2018February 21, 2020 at 4:42 pm #185741Reply To: Son diagnosed with CMD
I appreciate this thread is quite old now. However my daughter was diagnosed with Merosin Deficient Congenital Muscular Dystrophy the week before Christmas and I’d love to get into contact with other families in the same position. Like you said it’s rare and hard to find anyone who has any experience.
Hope you see this message, and that your family are doing well!
– SarahSEast3642ParticipantPosts: 0Joined: 21/02/2020
You must be logged in to reply to this topic.