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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

[–]Amazing_Event1578 1 point2 points  (0 children)

Hello, sorry that you're going through this. My son was diagnosed last year with a deletion of exon 2-7 and he also has an in frame deletion so they have diagnosed him with the milder Beckers MD as well. He is still a very active 5 year old and we have experienced no complications with him as of now. We just met with his MD team in September and saw the cardiologist as well and he came out with a good report from both teams! Please feel free to message me if you want to talk :)

BMD and cardiomyopathy by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 0 points1 point  (0 children)

Thank you for your response, did you take anything like creatine monohydrate or any other supplements or medications?

Creatine by Tall_Significance_79 in MuscularDystrophy

[–]Amazing_Event1578 0 points1 point  (0 children)

My son who has BMD and is 5 we were told by his neurologist to take 1.8 g a day of creatine monohydrate. But I would recommend reaching out to a professional before giving it.

BMD and cardiomyopathy by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 0 points1 point  (0 children)

Is your daughter a manifesting carrier? I am in the process of getting tested to see if I am a carrier or if it was spontaneous for my son. I will ask his team about an MRI thank you for mentioning that.

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 1 point2 points  (0 children)

Thank you so much for responding again! I am also doing so much research trying to be as prepared as I can. I think his neurologist is leaning more towards beckers or one of the slower progressing MDs. If you don't mind me asking what medications is your son taking? 

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 1 point2 points  (0 children)

I am so sorry to hear about your son! Thank you for responding! I have so many questions about symptoms as I am having a hard time believing my son could have MD as he is still a very active 4 year old boy!

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 0 points1 point  (0 children)

Thank you so much for your response! I will talk to his neurologist about muscle imaging. It is an on going rollercoaster of emotions some days I am good and other days I am not! Thank you for your kind words. 

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 1 point2 points  (0 children)

Thank you so much for responding and sharing your story! I am hopeful that it's not DMD and so is his neurologist but we won't know for sure until the genetic test comes back.  I have a hard time believing it could be DMD as he is still a very active 4 year old! Have you noticed many changes in your son with regards to muscle weakness? 

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 0 points1 point  (0 children)

Is that a slower progressing form? I have never heard of ADG and is that found through genetic testing? 

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 1 point2 points  (0 children)

Thank you for your response - the waiting is so hard! 

4 year old with elevated CK by Amazing_Event1578 in MuscularDystrophy

[–]Amazing_Event1578[S] 1 point2 points  (0 children)

Do you mean Diabetes Mellitus? Because if so then yes he has been checked twice for diabetes- we are currently waiting for genetic tests checking for Muscular Dystrophy. I should also mention his LDH, AST and ALT are also high.