November 14, 2019 at 10:28 pm #1829575 year old diagnosis
We should be finding out if my son has a type of MD next Friday, he has large calves and his ck levels were 3000. He has growth hormone injections as he is growth hormone deficient and it was only through check ups that the doctor suspected MD because of his calves.
Feeling anxious and scared for the results, no family history as far as we know
Don’t really have a question just a worried mum, Thanks for readingNovember 17, 2019 at 12:40 pm #183027Reply To: 5 year old diagnosis
Thank you for posting. I’m glad you’ve found a place you share how you’re feeling. I’m not a parent but I have heard my parents talk about how they felt pre-diagnosis. I do remember going to London and being in a room with Doctors and physios but I didn’t have the worry and fear that my Mum and Dad were going through. My Mum often recalls how that day when we found out my diagnosis was the first time she was given hope. They finally knew what was going on and what help and support was available. This was 36 years ago and there is so much more knowledge and technology to help live with MD in these times. I live independently with a team of PAs. I use a ventilator and have various bits of equipment to help me get around. I have worked and still do voluntarily. I’ve been able to travel and do things to challenge myself. It is often a case of carving my own path to get to where I want to be but I usually get there.
There was no family history of MD in our family and we have since found out it is most likely “de novo” meaning not inherited but just a one off mutation. I only got a specific diagnosis few years ago and although it changed nothing in practical, physical terms it helped me mentally to reach that point. Knowledge helps me get a handle on things.
I hope you get good support on Friday. It may be a lot to process and it might help to have questions ready as if you’re anything like me, things fly out your head as soon as you enter the room.
All the best. Please come back and ask questions if you need to or just get things off your chest if that will help.
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: 05/03/2015November 26, 2019 at 5:36 pm #183346Reply To: 5 year old diagnosis
Give yourselves time to process everything. Come back to us if you need anything or even just want to write down how things are. There’s no right or wrong way to deal with what you’ve been told.
If or when you are ready to chat to others then there are a number of groups we can signpost you to, that can for some, provide great support.
Take good care.
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: 05/03/2015February 6, 2020 at 12:52 am #185196Reply To: 5 year old diagnosis
Sorry to hear that your son has been diagnosed with Duchenne. My son is 11 and was diagnosed at 6 months old.
Are you on Facebook? I admin a Facebook support group specifically for parents of those with DMD in the UK & Ireland. If you’d like to join just search Duchenne Parents Zone xKatRParticipantPosts: 0Joined: 04/07/2019February 6, 2020 at 9:52 pm #185223Reply To: 5 year old diagnosis
I have BMD, and the pseudohypertrophy of the calves was a tell-tale sign that we didn’t know about when I was a lad. In fact my mum always used to say that my wee brother and I had lovely, strong legs, look good in shorts etc. I am glad that things have progressed and that you are finding out early on.ranaldParticipantPosts: 747Joined: 05/09/2010
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