ShellGoldsmith
Member
- Joined
- Apr 28, 2021
- Messages
- 14
- Reason
- CALS
- Diagnosis
- 00/0000
- Country
- US
- State
- WA
- City
- Sedro Woolley
Hello everyone, I made my first post on Apr 28, 2021. At that time my husband we already knew had a positive mutation on the SOD1 bc.341T>C (p.11e114Thr results received 10/09/2018 and had been showing some choking issues beginning of 2021 he started having weight loss. We've managed to slow the weight loss with adding certain things to his diet. So now for the update he has redone his:
XR SWALLOWING EVAL WITH SPEECH
COMPLETE PFT WITH DLCO
MR LUMBAR SPINE WITHOUT CONTRAST
VITAMIN B12
METHYLMALONIC ACID, SERUM OR PLASMA
PROTEIN ELECTROPHORESIS SERUM
KAPPA/LAMBDA, FREE, SERUM1
IMMUNOFIXATION AND PROTEIN ELECTROPHORESIS, SERUM
PROTEIN ELECTROPHORESIS, RANDOM URINE
all of which are showing negative changes so now we are waiting to see his neuro Dr. Weiss at the UW in Seattle
since the 1st of January he has fallen 4 times with sever bruising and pain. His legs are so stiff and painful he can barely walk mostly stays in bed because of this and we have to small of a house for a manual or power chair. His body is refusing to let him sleep. we are hoping that the Dr will finally give an official diagnosis so we can get him some help We are both on disability, so this is extremely difficult on our family. For those of you who read this far thank you.
XR SWALLOWING EVAL WITH SPEECH
COMPLETE PFT WITH DLCO
MR LUMBAR SPINE WITHOUT CONTRAST
VITAMIN B12
METHYLMALONIC ACID, SERUM OR PLASMA
PROTEIN ELECTROPHORESIS SERUM
KAPPA/LAMBDA, FREE, SERUM1
IMMUNOFIXATION AND PROTEIN ELECTROPHORESIS, SERUM
PROTEIN ELECTROPHORESIS, RANDOM URINE
all of which are showing negative changes so now we are waiting to see his neuro Dr. Weiss at the UW in Seattle
since the 1st of January he has fallen 4 times with sever bruising and pain. His legs are so stiff and painful he can barely walk mostly stays in bed because of this and we have to small of a house for a manual or power chair. His body is refusing to let him sleep. we are hoping that the Dr will finally give an official diagnosis so we can get him some help We are both on disability, so this is extremely difficult on our family. For those of you who read this far thank you.