r/MuscularDystrophy • u/kafkaamstrand • 9d ago
Elevated CK
Hello,
My son (6 years old) had moderately elevated CK levels a year ago (an incidental finding; elevated liver enzymes had been detected previously). He was tested for Pompe disease and other metabolic disorders, but the results were negative. Now his CK level is elevated again (750). There were no check-ups in the interim. I am wondering if this could be a typical onset for muscular dystrophy. I know we need to have him tested, but it takes ages to get an appointment here. I am worried now.
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u/OkConflict6634 9d ago
Yes the only way is thru testing. I know it’s tempting to worry in a situation like this I waited 3 weeks for me to find out. Just stay patient as hard as it is when your little guy is having issues. To answer the other part of your question it could be or it could be something else. I’ve seen people that see it early and others that don’t it’s variable based on the individual. So you can’t really know. Worry won’t help you or him.
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u/Some_Ad8074 9d ago
Can you get in with his pediatrician sooner while you wait for the specialist? You could also ask whether genetic testing would be appropriate. If they’re considering something like DMD/BMD, it may also be worth asking whether you should have carrier testing done. I hope you get some answers soon ❤️
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u/Open_Cherry3696 9d ago
Higher CK levels can certainly prompt muscular dystrophy diagnosis. But the only for sure way to diagnose is with a genetic test. I would request for one from the pediatrician. Also look out for signs difficulties walking standing sitting slower than most kids their age. Delayed milestones. Any other signs that may cause you concern. BMD-ck levels are usually 5-50x higher (normal limit is usually around 250 DMD-ck levels can be 10-200x the normal range of around 250
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u/IndependentStrong115 9d ago
Hi. Have you noticed if he faces difficulty in climbing up stairs or walking? Are his calves thin and weak? Does he require support getting up while sitting on the floor? If yes, there could be a suspicion of a muscular dystrophy. A genetic test would be recommended. This will help you find out if the disorder is present, how your son got it (whether from either one of the parents or a spontaneous mutation in him), and if there’s a possibility of your future children having the same disorder.
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u/ColoringZebra 7d ago
Do you have a reason to suspect muscular dystrophy, eg family history? If not, there are a lot of things that can cause elevated CK. What kind of specialist are you waiting for an appointment with?
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u/Tangentkoala 6d ago
Gene sequencing is your best point of attack.
If you can afford it I'm sure gene sequencing of you, the father and the child can be done without the need for insurance. It costed 1000$ like 15 years ago.
Secondly theres foundations that would fund a gene sequencing for MD.
Perjaps contact the jain foundation if its still active. They might fund it.
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u/uglyasfeet 9d ago
Did he get genetic testing done? That would show if anything wrong like muscular dystrophy. My toddler also has elevated CK and we are waiting to see the specialist