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Next steps?
Hi all,
My son is almost 3. He has been under investigation for some king of MD since 2019 after a blood test found his CK was high. We have had negative results for duchenne, Becker and a letter this week saying the limb girdle test was negative. I am struggling to get hold of our consultant at the moment so I know we are now waiting to get a cardiac screen and muscle biopsy done but does anyone have an idea what we’d be looking at diagnosis wise now?
Thank you 😊
Georgi
Reply To: Next steps?Hi as a parent myself I hope all works out well.
Blood test can rule out duchenne and becker but with Lgmd there are so many sub types and each is different in what causes it so did the letter state which sub type is negative for lgmd or if they tested for all sub types.
I had a biopsy last year and I am still awaiting a response and I follow up often.
Reply To: Next steps?Hello and welcome to the forum Georgi. The consultant looking after your son is certainly doing all the right things to find a correct diagnosis. I stress correct because as Joe says, there are so many different types, and su types along with other that may not yet be known, that it would be foolish to guess where the problem lies.
A quick trip through the forum would show that getting a diagnosis is often a long and difficult, but necessary, process. The process is made more difficult in view of the covid threat as I am sure you will appreciate. Like Joe I am awaiting an urgent referral for a muscle biopsy, which was made fifteen months ago, along with EMG, again , still waiting.
It is important for you now to keep a close eye on your son, and be watchful for any changes that may happen. Those will be so valuable for your consultant in the weeks to come.
MikeSo many love songs, so little love.
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