My son is now 2 yrs 9 months old. We began this journey last christmas when we found his CK level was 13000. He most recent CK level was 6500 in Septemeber 2020. We have had the results for Duchenne and Becker come back negative. He is now being tested for LGMD. I was wondering if anyone else is going through this and if it normally takes such a long time to get a diagnosis. I want to find out what is going on and start planning our future, decide whether or not to have more children, decide what kind of house to buy etc. I’m getting so frustrated! What will they look for next if it’s not LGMD? Obviously I am grateful that he is currently happy and well but just want to get to the bottom of it all!
Hello and welcome. Clearly you have a good neurologist who is keen to get to the bottom of the problem. The question of diagnosis comes up quite regularly on the forum, and you will often find very different rates of testing and diagnosis from area to area. You have already said how much is waiting on that decision for your son, imagine how it would feel if the diagnosis was wrong? Clinicians always take great care, and if necessary, some time, to get it right. Diagnoses, are by their very nature, often hard to pin down, because there may be so many complicating factors. Most everyone on here has experienced frustrating waits for an answer, and sadly you may well have to as well. You will of course appreciate, that the virus is clogging up almost every piece of NHS that it can, so it is possible that some, or all , of the delay may be attributed to that.
I am sure others may well pop up and tell you their experiences. You will get there.
sometimes the delay in the testing can be that they need to test in a way that takes time. Muscle biopsy can take longer than a blood test as they need to grow the tissue. Dye it. then map it in a translatable format.
With your own inheritance and possibility of having more children’s you may want to ask your Neurologist to refer to a genetic councilor and if your carrier status can be confirmed. If you, your partner or both are carriers of the gene then it could give you a clearer picture on how to plan family.
Initially it was thought that my MD was only peculiar to me. A anomaly in my DNA and not inherited.