Follow up

[keane]

I've been away from this site for a while, and I saw that I had some unanswered questions from a previous post. In a nutshell, I attended the Mayo clinic, where I was initially told I had a metabolic myopathy.

Sorry that I have not returned to this site for a while. I came down with a cold during my follow up visit to the Mayo, which seemed to trigger an episode of respiratory insufficiency (spent a few days in the hospital). During the followup at the Mayo, I had a fresh biopsy taken, which was quite large, from an area that the team felt was weakest. After a week, they confirmed the presence of excessive glycogen in the lysozomes and I was told that it is GSD II, or late onset acid maltase deficiency. In addition, a test for GAA (I believe it was alpha glucosidase) was abnormal, along with multple liver enzymes that were abnormal most of my life. Putting it together with the fact that I've always had an enlarged liver helped confirm the diagnosis. Prior to the biopsy results, the doctor was confident that it was a metabolic myopathy based on a lifetime of exercise intolerance, high CpK, and results from a liver biopsy years ago.

At least for now, my doctor has agreed to postpone the use of night time ventilation to see if the dietary changes and medication will help. My wife and I are struggling to learn all we can about the proper diet for these conditions. Thanks for all of your concern.

 

[ktmj]

Thank you for following up here keane. We like for folks to share even if ALS has been ruled out. Does not sound like an easy diagnosis by any means, but certainly wish you the best in controlling it.

God bless.

 

[crystalkk]

Keane,

Metobolic myopathies are diseases that MDA deals with. You might want to enroll with them, they might be able to help you....
Sorry about the hospital stay.

Please keep us updated, there are alot us undiagnoseded and we are always happy to here stories of it not being ALS.
No disease is a walk in the park but it sure beats the later.

 

[lydia]

Hi Keane,

I am glad you posted again, I wondered what happened to you. I am sorry to hear you were hospitalized! I will pray that diet and medication will help you feel better, and especially that you avoid night-time ventilation.

Lydia

 

[Sammantha]

I am so happy for you that you got a diagnosis, now you can begin to learn what to do and what to expect.... Thats what people/doctors dont understand, just because they dont give you a diagnosis it does not mean you go home all of sudden being able to breathe or function normally! Now you have a name for it and can get help, thats great! Best wishes Sam