My World is Getting Smaller

michigani · 12-06-2005, 05:13 PM

I feel like I have no right to complain. There are so many on this forum that are in pain and suffering, but I've been really bummed out lately. Because of my LGMD, I had to sell my motorcycle 3 years ago and give up golfing and cross-country skiing. It was imposible. I really miss it all while my friends still enjoy it. Last year I could no longer ride a bike, walk on the beach or throw a ball. This year my family went on our annual Cedar Point trip while I stayed home. I can't get in and out of the rides. Seems I can do less and less each month. And it feels like freinds and family can't TRULY appreciate it. Now I can't get out of a chair. How do you function if you can walk but can't get up? I feel I can't go to a show or a restaraunt anymore. You'd think a wheelchair was the answer but I can't get out of one . . . and . . I can still walk, that's what's so weird! My quadriceps and shins are non-existent while my butt, hamstrings and calves are almost normal. I'm still waiting on a diagnosis. My type of MD is still unidentified.

I'm not depressed, just frustrated and trapped and needed to vent. And also, if your situation or state of progression is similar to mine, I truly understand what your going through. Other than that I realize I am blessed with a great family and home and feel very lucky.

Moses1 · 12-08-2005, 02:34 AM

I sympathize with you. I am 42 years old and have noticed a significant wasting in my calves and legs despite frequent excercise. After 2 years of blood tests, 3 different neuromuscular doctors, 3 EMG's, 3 NCV, muscle biopsy, neurological exams, I have finally been diagnosed with dysferlinopathy via genetic blood testing. I wouldn't mind getting this is if I was older but this is an age where you are supposed to be in your prime of your life. I am still able to work, exercise etc but it's about 1/2 the length and intensity as I used to do. I can see in photographic evidence that my legs, calves especially, and ankles are wasting away. No matter how hard I try to build them up, stretch and stay active. No one but me seems to really care or understand what I am going through and will continue to go through. I pray every night for my symptoms to be delayed or slowed down. It's all I can do to be positive at this point.

michigani · 12-08-2005, 07:02 PM

Hi Moses,

You must have Miyoshi Myopathy. I have Dysferlinopathy as well but my symptoms present as Limb-Girdle type 2B. You've probavly read or been told that dysferlin deficincy can cause 2 different kinds of dystrophy. But with me there's an additional twist. I have dysferlin deficincy but my "dysferlin gene" is intact. Therefore they don't know why. I just returned from the National Institute of Health in Washington DC where they did lots of DNA and gene testing. They hope to give me answers within a few weeks.

Unfortunately, excercise won't help us much since you'd probably break down muscle tissue that won't be replaced. But try to do enough to prevent atrophy. Stretch often.

Much like you I am 44 and wish to be the man of the family, mow the lawn, fix the cars, etc. so it's hard emotionally and very humbling. But again, I'm thankful it's not more aggressive or painful. There's lots of hope and I feel there will be a cure in our lifetime. Write if you need to talk to someone who understands. This board is great!

Mind if I ask: Did your parents or grandparents have MD?

Mark

Moses1 · 12-08-2005, 09:58 PM

I don't know if any other people in my family had any known or diagnosed neuromuscular diseases. My sister has MS and my aunt MG, but those aren't related to what is going on with us (you or I) and our muscles. I just sent off for some more genetic testing to find out if it's distal or proximal. I can already tell you which one it is. I can see it for myself.
I'm more worried about the transmission rate with my kids. The odds are between 25 and 50 percent they will either have it or be carriers.
What really is disheartening is about 10 years ago when I got out of music, (and all the partying that went with it) and into education, I started working out eating right etc... Really had a pretty good physique up to the past two years. I thought if I started doing the treadmill again, walking, stretching, and getting back into lifting things, though lighter, it might get better over the long run. I know that more muscle tissue is destroyed by heavy excercise, so I started going a little lighter and don't seem to have as many of the symptoms as I seemed to have had before. Of course, the course of the disease and progression rates, as well as age of onset can vary so widely little is known but that you fight to keep what you have every day and try not to envision being wheelchair bound etc.. It's tough to be positive. I do know for a fact that too much rest causes it to progress more rapidly. I had a horrible back problem last summer and was laid up for about three weeks and man, I thought I was going to completely waste away in a matter of weeks.

michigani · 12-22-2005, 01:59 PM

Hey Moses,

How strange . . . . MY sister had MS ! She passed away 2 years ago (at age 48) but she also had diabetes and the combination was too much. How strange that we both have Dysferlinopathy in our early 40's and a sister with MS.

There is a silver lining. Most Dysferlinopathies (98%) are Recessive Inheritance which means if you're married to a "healthy" woman, your kids COULD be carriers but are less likely to be affected. Hopefully by the time they have kids, there will be a treatment.

My MD is proximal, that is my quadriceps and stomach muscles are shot. I can't get up from a chair or raise my knee toward the sky. However, I CAN stand on my toes. My calves are strong. Therefore my Dysferlinopathy is presenting as a Limb-Girdle type dystrophy.

Keep your spirits up and please keep me posted on any developments or progress in your diagnosis.

Mark