Hello members!
I know I will be welcomed. Thank you for that! I have been reading the site for a little while and see how supportive this family is. I am sorry that you are all traveling on such a difficult road.
I am a 49 year old female, wife and mother of 3 grown daughters.
My symptoms for this particular problem began about 6 years back, with terrible loss of balance....but I had issues with perpetual vertigo, (from age 19) which I can explain later, so I chalked the balance issues to that, and kind of shrugged it off. Then my legs began to feel as if the bones were hurting. Deep pain, as if no massage in the world was going to take the pain away. At the same time I got a buzzing in one foot. My right one.
I went to my doctor. I had my legs scanned. Everything was OK. I went to my Neuro....I already had one due to the vertigo issues. I tested positive on the Rhombergs exam. No need to worry. See me in a few.
I had a terrible fatigue set in, but then another problem hit. I had a series of small strokes. Put me in the hospital for a month, rehabilitation then back to the hospital because another TIA hit me.
They found the cause. I had elevated Pro Thrombin Time which made sticky blood, causing blood clots. They also found me to have "lupus".
So now I have these 2 problems in the hospital, but I cannot stand. Understandably I am thinking OK, a stroke will do this.
One of the PCP's decides he wants to do a muscle biopsy while I am hospitalized...but I was on coumadin so now they had to change to heparin to do the procedure.
The muscle tissue is sent to New York City for evaluation and it comes back showing "myopathic" changes. A mitochondrial order should be considered.
I was sent to Thomas Jefferson University Hospital to consider ALS and saw Dr. Enrica Arnaudo. She did only 3 sticks to my body with the EMG because of the coumadin. Which were normal (3 years back) the NCS was normal. Her opinion was that I may have a condition called MELAS because I suffered violent migraine type headaches. (I was checked) they did not find the variant in my gene.
One of the last things that was said to me and my husband was this. The thing about muscle diseases is that they need to find out whether the muscle is killing the nerve or vice versa.
In the past 3 years I have developed atrophy of both lower calf muscles and some small wasting of the hands and wrists. I have fasiculations behind my shoulder in my hands and next to my spine. Other times they pop up here and there.
I did have a second biopsy that showed denervation, recent and partially recovered.
Then an EMG of the opposing leg showed a few positive sharp waves with mild and acute and chronic denervation.
I saw a doctor in NYC who said it was (radiculopathy) this was "before" I had any muscle wasting of a different area.
Right now I have stopped the process of looking. It's enough to drive you insane. One more note. My father's dad died of this dreaded disease. I think I saw another person who's grandfather had passed away from it.
Bottom line. I have a muscle disease. I have lupus. Are they connected? The rheumatologist says, no. I have bad genes in the family. I do not have the ALS gene....but am still worried. Am I nutty?
Thanks for reading this....you're all great!
I know I will be welcomed. Thank you for that! I have been reading the site for a little while and see how supportive this family is. I am sorry that you are all traveling on such a difficult road.
I am a 49 year old female, wife and mother of 3 grown daughters.
My symptoms for this particular problem began about 6 years back, with terrible loss of balance....but I had issues with perpetual vertigo, (from age 19) which I can explain later, so I chalked the balance issues to that, and kind of shrugged it off. Then my legs began to feel as if the bones were hurting. Deep pain, as if no massage in the world was going to take the pain away. At the same time I got a buzzing in one foot. My right one.
I went to my doctor. I had my legs scanned. Everything was OK. I went to my Neuro....I already had one due to the vertigo issues. I tested positive on the Rhombergs exam. No need to worry. See me in a few.
I had a terrible fatigue set in, but then another problem hit. I had a series of small strokes. Put me in the hospital for a month, rehabilitation then back to the hospital because another TIA hit me.
They found the cause. I had elevated Pro Thrombin Time which made sticky blood, causing blood clots. They also found me to have "lupus".
So now I have these 2 problems in the hospital, but I cannot stand. Understandably I am thinking OK, a stroke will do this.
One of the PCP's decides he wants to do a muscle biopsy while I am hospitalized...but I was on coumadin so now they had to change to heparin to do the procedure.
The muscle tissue is sent to New York City for evaluation and it comes back showing "myopathic" changes. A mitochondrial order should be considered.
I was sent to Thomas Jefferson University Hospital to consider ALS and saw Dr. Enrica Arnaudo. She did only 3 sticks to my body with the EMG because of the coumadin. Which were normal (3 years back) the NCS was normal. Her opinion was that I may have a condition called MELAS because I suffered violent migraine type headaches. (I was checked) they did not find the variant in my gene.
One of the last things that was said to me and my husband was this. The thing about muscle diseases is that they need to find out whether the muscle is killing the nerve or vice versa.
In the past 3 years I have developed atrophy of both lower calf muscles and some small wasting of the hands and wrists. I have fasiculations behind my shoulder in my hands and next to my spine. Other times they pop up here and there.
I did have a second biopsy that showed denervation, recent and partially recovered.
Then an EMG of the opposing leg showed a few positive sharp waves with mild and acute and chronic denervation.
I saw a doctor in NYC who said it was (radiculopathy) this was "before" I had any muscle wasting of a different area.
Right now I have stopped the process of looking. It's enough to drive you insane. One more note. My father's dad died of this dreaded disease. I think I saw another person who's grandfather had passed away from it.
Bottom line. I have a muscle disease. I have lupus. Are they connected? The rheumatologist says, no. I have bad genes in the family. I do not have the ALS gene....but am still worried. Am I nutty?
Thanks for reading this....you're all great!