Specialists ? Is that what they are ? - Muscular Dystrophy Message Board

Joker Wallace · 08-06-2005, 09:09 PM

My little brother was diagnosed at the age of 17 with Facio...something or other...some kind of muscular dystrophy that I can neither spell nor pronounce.I have been in pain most of my life and now I can hardly walk. I have seen so many specialists (?) and none can figure out my problem. If I were French Canadian then they could peg it...so one of them says. If my reflexes weren't so super duper good, then it could be another. When they test my reflexes my leg almost wraps around my head. When they scratch the bottom of my right foot my toes touch my knees. ( well...not quite ) so they thought that I had had a stroke, but the CT scan proved that false. The Genetisist says that I have a broken X chromosome ( whatever that means ) and that line 16 is weird. ( whatever that is ) they have also said a hundred times that they want to do a biopsy on my leg muscles, but they have never ever called me in or sent anything to my doctor to get me in for the test. The one quack says not to bother because it leaves a scar. I said who cares as long as they find out what it is.
All I know is that :
Fact 1 : my knees/ankles don't appear to lock, therefore I fall down stairs, I tip over like I'm drunk, etc.
Fact 2: I can no longer lift my arms above my head without having lots of pain.Or hug the kids ,or......my husband. Making love is out.Hurts too much.
Fact 3: In high school ( many moons ago ) I was exempted from P.E because my left knee was in constant pain and would swell up beyond recognition. I was on crutches most of the time. One specialist..ugh...said it was elephant man's disease. Another literally told ME..me who was 110 pounds at that time, that I was ( get this ) TOO Heavy for my knee to support me.
One Dr. did an xray at 3:00 in the A.M once because I was screaming my lungs out, and she said that I needed to have my knee cap removed.
Fact:4 sometimes my legs just start moving by themselves. My hubby calls me thumper because at night my legs will bounce up and down so hard that I wake both of us up. Or sometimes I will be sitting and they will go all over the place. One Dr. said it was restless leg syndrome, but when I looked that up it said that you get bad pains in your sleep and need to rub them or apply ice. I don't get that.
Fact 5: nothing showed up on the CT scan ( except that aside from my mother's beliefs, I really do have a brain.)
I am waiting to get in for an MRI. But the waiting lists here are like 6 months to a year.
Fact 6: My Dr. says he thinks it is M.S.
Fact 7 : weird weather brings more knee pain, but that could be my arthritis.
Fact 8 : The specialists ( there's that word again ) say that all of my kids have very decreased muscle use.
Fact 9: If I sit down or lay down for even half an hour it is very painful to stand up, stretch out,walk, whatever.
Fact 10: This turkey wants me to go in for knee braces and a walker, and then go to a fancy hospital in the city for rehabilitation, and he doesn't even know what is wrong with me.
Fact 11: If they don't figure it out soon I'm gonna explode. I told the Dr. to tell me it's all in my head, at least that way I'll believe that it has been diagnosed and then it won't seem so bad. Not knowing is the worst.
If anyone out there could help...it would be a blessing. Any ideas of what kinds of things I should mention or ask when I go back in ?

michigani · 08-07-2005, 04:42 PM

"Joker"

My Muscular Dystrophy diagnosis took a year. I also was told by a neurologist that I had Facioscapulohumeral (FSH) Muscular Dystrophy. I disagreed. I can't stress enough how glad I was to check the Muscular Dystrophy Association's website and even more than that, that I contacted my local MDA clinic. There, I saw a doctor who is an expert at muscular dystrophy. He turned me over to his collegue who is an expert at RARE muscular dystrophies. I was soon diagnosed with Dysferlinopthy. I am missing a protein called Dysferlin that repairs muscle cells. (I am a 44 year old male).

I share many of your problems, that is leg weakness, etc, but not really any bad knee pain. My knees do ache a little because there is not much muscle tissue cushioning or supporting them and they hyper-extend (backwards).

A muscle biopsy is the most important test you can probably have. They will look at the sample with a microscope to look for cell damage. Then perform muscle stain tests on the tissue. The stain reactions immediately tell them if you suffer from many of the known MDs. Also a simple blood "CK" test. CK is an emzyne that leaks from damaged muscle cells. It's generally high in MD patients. Last an EMG test can give a good indication about your muscle health. Sorry I can't provide links or addresses. It's not allowed on this board, but best of luck to you. Keep us posted. I understand your frustration.

Mark

dkbladez · 08-09-2005, 12:11 PM

Hi Joker,
I just want to offer some encouragement to you. I too have been going through the process of trying to find out what's worng with me. I will have my biopsy next month, so I look forward to getting a definite diagnosis afterwards. I am presently going to a neurologist that works at the MD clinic in Virginia. She has been most helpful to me and she went right to work the first time she examined me and I wasn't even suppose to be her patient. I guess there are not many doctors in this field and the ones that are , are hard to get to. I wish you much luck and find a doctor who will put you through all the tests. I have also had 2 emg and countless bloodwork. The emg's were abnormal but my bloodwork always comes back ok. My father had inclusion body dystrophy so I guess I have that or LGMD.

Good Luck and this site is great,
Shellette