InTheVoid
Member
- Joined
- Jan 24, 2012
- Messages
- 12
- Reason
- Learn about ALS
- Country
- CA
- State
- Saskatchewan
- City
- Regina
Hello everyone! I'm a 25yr old man living in Saskatchewan with a family history of Spinal Muscular Atrophy, which degenerates Lower Motor Neurons only and usually affects children. A little family background, my mother has confirmed SMA linked to chromosome 5q, she was diagnosed in '96 and is 58yrs. She can still walk short distances and worked until she was 35. I have and uncle who is a quadriplegic, but was never tested. Also I had an aunt who died young(in mid 20's i think).
Anyways, about 3 years ago I started working light construction, drywall, painting, laying flooring, tiling, hanging doors and trim, etc. In February 2011 I noticed my legs were having trouble with climbing stairs while I was tiling a shower. I shrugged it off as being out of shape. Then that spring I worked pretty hard, shingled a roof, lots of tile jobs with lots of stairs, long 10h days. I also noticed cramping in my hands and forearms(shoulders too) while using a mixing drill and holding tiles and carrying buckets of mortar. Summer 2011, I was tiling a shower in a condo, and i caught a virus that put me in bed for a week. After returning to work I couldn't work at the same pace, I felt slowed down and I still feel the same way, I'm having more trouble with stairs and walking long distances. Tiling a kitchen backsplash is almost excruciating even though its a 1.5 day job. I used to be able to work long 10-12hour days but now all I can do is 4-6 hours if I pace myself.
My DNA tests showed I am a carrier because my mother is affected and passed one defective gene to me, but the other gene showed no mutation(although the test doesn't detect all possible mutations in the gene ). I have a muscle biopsy scheduled for next week but it seems like it's a year away. Does anyone have or know someone who has Spinal Muscular Atrophy? Specifically with a later onset in adulthood as it normally affects children? Please any comments or questions welcome!
Anyways, about 3 years ago I started working light construction, drywall, painting, laying flooring, tiling, hanging doors and trim, etc. In February 2011 I noticed my legs were having trouble with climbing stairs while I was tiling a shower. I shrugged it off as being out of shape. Then that spring I worked pretty hard, shingled a roof, lots of tile jobs with lots of stairs, long 10h days. I also noticed cramping in my hands and forearms(shoulders too) while using a mixing drill and holding tiles and carrying buckets of mortar. Summer 2011, I was tiling a shower in a condo, and i caught a virus that put me in bed for a week. After returning to work I couldn't work at the same pace, I felt slowed down and I still feel the same way, I'm having more trouble with stairs and walking long distances. Tiling a kitchen backsplash is almost excruciating even though its a 1.5 day job. I used to be able to work long 10-12hour days but now all I can do is 4-6 hours if I pace myself.
My DNA tests showed I am a carrier because my mother is affected and passed one defective gene to me, but the other gene showed no mutation(although the test doesn't detect all possible mutations in the gene ). I have a muscle biopsy scheduled for next week but it seems like it's a year away. Does anyone have or know someone who has Spinal Muscular Atrophy? Specifically with a later onset in adulthood as it normally affects children? Please any comments or questions welcome!