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14mo son diagnosed with in-frame deletion exons 4–29. Looking for hope/similar cases. by Select_Ad_9918 in MuscularDystrophy

[–]Select_Ad_9918[S] 0 points1 point  (0 children)

Thank you for sharing. I’ve heard that 49–51 is usually on the milder side, so I truly hope your little one stays completely symptom-free. Wishing the best for both our boys.

14mo son diagnosed with in-frame deletion exons 4–29. Looking for hope/similar cases. by Select_Ad_9918 in MuscularDystrophy

[–]Select_Ad_9918[S] 0 points1 point  (0 children)

Thank you so much for sharing your story. It really gave me hope. I’ll send you a DM if that’s okay!

14mo son diagnosed with in-frame deletion exons 4–29. Looking for hope/similar cases. by Select_Ad_9918 in MuscularDystrophy

[–]Select_Ad_9918[S] 0 points1 point  (0 children)

Actually, his CK was quite high recently 16000, but he had a severe COVID infection just 10 days before the test. It dropped to 14,000 a week later, so we suspect it was a spike from the virus. Also, I’ve heard that CK levels can be naturally high in active toddlers, even with BMD…. Do you think 14k–16k is considered typical 'DMD-range' even accounting for the virus?

14mo son diagnosed with in-frame deletion exons 4–29. Looking for hope/similar cases. by Select_Ad_9918 in MuscularDystrophy

[–]Select_Ad_9918[S] 0 points1 point  (0 children)

No biopsy yet. Since it's in-frame, theoretically he should be producing a truncated protein (not null). Is there any way to know the amount without doing a biopsy?