michigani
10-17-2005, 04:23 PM
Hi Shellette,
Did you get any news on your biopsy? I've been wondering.
I'm off to Bethesda, MD next week to participate in the Inherited Neurological Disorders Study at the National Institute of Health. I'm hoping I can get a definitive diagnoses as to exactly WHAT kind of LGMD I actually have. They're going to run a bunch of tests on me on Monday 10/24 and put me in their database. I applied to them for help and was accepted into the program.
I'll keep you posted on what happens.
Mark
Did you get any news on your biopsy? I've been wondering.
I'm off to Bethesda, MD next week to participate in the Inherited Neurological Disorders Study at the National Institute of Health. I'm hoping I can get a definitive diagnoses as to exactly WHAT kind of LGMD I actually have. They're going to run a bunch of tests on me on Monday 10/24 and put me in their database. I applied to them for help and was accepted into the program.
I'll keep you posted on what happens.
Mark
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dkbladez
10-21-2005, 08:47 PM
Hello Mark,
Thanks for asking. Well I'm starting to feel the frustration as others on the board. I went to my dr. appt and my biopsy came out normal. My doctor still feels that I have some type of congenital myopathy since there is a family history. I didn't think that it could be congential since I didn't have it since birth but i guess congenital and inherited are all the same. I've been having difficulty sleeping at night, so she thinks I'm having bouts of sleep apnea, so she is sending me to get another battery of tests. She wants me to get the sleep study, an echocardiogram and a throat ultrasound because she is concerned about the way my voice sounds. She says I sound very nasally and that is a characteristic of some forms of md. She also gave me the paperwork for the md clinic and I sent them off fast, maybe they can give me better answers. I go to a medical college in virginia, so whenever I'm there she always brings in other doctors and students to see. They really make me feel like a star :) So as of now all tests normal except for high level of enzyme, i guess I should ask her which one it is. She also mentioned that I may need to have another biopsy from another location on my body and I wasn't trying to hear that :nono: Be blessed! Keep me posted about your study.
Shellette
Thanks for asking. Well I'm starting to feel the frustration as others on the board. I went to my dr. appt and my biopsy came out normal. My doctor still feels that I have some type of congenital myopathy since there is a family history. I didn't think that it could be congential since I didn't have it since birth but i guess congenital and inherited are all the same. I've been having difficulty sleeping at night, so she thinks I'm having bouts of sleep apnea, so she is sending me to get another battery of tests. She wants me to get the sleep study, an echocardiogram and a throat ultrasound because she is concerned about the way my voice sounds. She says I sound very nasally and that is a characteristic of some forms of md. She also gave me the paperwork for the md clinic and I sent them off fast, maybe they can give me better answers. I go to a medical college in virginia, so whenever I'm there she always brings in other doctors and students to see. They really make me feel like a star :) So as of now all tests normal except for high level of enzyme, i guess I should ask her which one it is. She also mentioned that I may need to have another biopsy from another location on my body and I wasn't trying to hear that :nono: Be blessed! Keep me posted about your study.
Shellette
michigani
10-26-2005, 04:08 PM
Well Shellette, I was hoping you'd get results that gave you some answers. As always, I know how you feel. The enzyme your doctor mentioned must be CK. It leaks into your blood if you have muscle damage. A healthy person's reading is like 20-120 or something like that. Mine is always around 500. Severe cases of MD like the little boys get can be 20,000 because the cell damage is so severe.
My visit to the National Institute of Health in Bethesda went good. It was a great bunch of people. Their goal is to figure out WHAT kind of MD I have and how I inherited it (dominant or recessive). They took blood and are running DNA tests. They also hope there is still muscle tissue left from my biopsy. Make sure the hospital KEEPS your tissue if possible. They can do dozens of tests even several years later.
They told me it could be 6 weeks before I hear. I'll let you know. Good Luck ! ! !
Mark
My visit to the National Institute of Health in Bethesda went good. It was a great bunch of people. Their goal is to figure out WHAT kind of MD I have and how I inherited it (dominant or recessive). They took blood and are running DNA tests. They also hope there is still muscle tissue left from my biopsy. Make sure the hospital KEEPS your tissue if possible. They can do dozens of tests even several years later.
They told me it could be 6 weeks before I hear. I'll let you know. Good Luck ! ! !
Mark
dkbladez
11-19-2005, 05:17 PM
Hi Mark,
Have you heard anything back from your study? I have to take a sleep study next month because I am having trouble staying asleep at night. the doc thinks it might be sleep apnea. I've been feeling pretty good lately just slow in the cold air. I hope that all is going well with you.
Take care,
Shellette :)
Have you heard anything back from your study? I have to take a sleep study next month because I am having trouble staying asleep at night. the doc thinks it might be sleep apnea. I've been feeling pretty good lately just slow in the cold air. I hope that all is going well with you.
Take care,
Shellette :)
michigani
11-20-2005, 07:24 PM
Hey Shellette,
Nothing yet but I don't expect to hear until around December 5th. . . that will be six weeks since the DNA Blood Tests. And IF there is still biopsy tissue left, that will be 10 weeks or early January. Thank you very much for asking. I will keep you informed and please do the same. :)
Mark
Nothing yet but I don't expect to hear until around December 5th. . . that will be six weeks since the DNA Blood Tests. And IF there is still biopsy tissue left, that will be 10 weeks or early January. Thank you very much for asking. I will keep you informed and please do the same. :)
Mark