Ericwagner55
New member
- Joined
- May 2, 2024
- Messages
- 1
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
- State
- FL
- City
- Land O Lakes
Hello everyone, my name is Eric and I just turned 23 (yesterday) this is going to be long but I want to know this forums thoughts.
Since January 2021, I randomly was barely able to walk when visiting a friend in New York and it was cold out. It was super scary, but I scheduled a neurology appointment to be safe. I ended up getting bloodwork done from the neurologist to which everything came back clean except for high Bilirubin (which they said shouldn’t be a cause for concern).
I then did a genetic test through invitae in which they found genes of uncertain significance. They found the SQSTM1 gene which is linked to Paget Disease of Bone 3, distal myopathy with rimmed vacuoles ALS/front temporal dementia, and neurodegeneration with ataxia, dystonia, and gaze palsy.
They also found the ALG2 gene linked to congenial myasthenia syndrome, and the ISPD gene linked to muscular dystrophy. (My grandmother has been diagnosed with myasthenia gravis)
I did an EMG after this back in 2021 which there wasn’t any significant findings, and shortly after the EMG my symptoms of leg weakness only occurred if I was doing extrenuous exercise, so I just stayed clear from running and kept on with life.
Things were going well for the most part up until December 2023 where the leg weakness got really bad again, and now ever since then things has been getting really difficult again. The fatigue in my legs has been bad, I’m having rare but occasional muscle spasms in my joint right next to me knee, my arms have been somewhat fatigued and I can’t be 100% sure but I think I have a little bit of atrophy in my forearms.
Mentally I have been a mess, and I’ve felt different behaviorly a little the past couple of months. I will preface and say that I have been super anxious about everything that came up on my genetic panel, and through the symptoms I’ve experienced on and off the last couple of years, but I try to stay positive and move my body the best I can/live life to the fullest.
I’m going to a neurologist in a month so I’m hoping to find out more from her, but I had two neurologists previously tell me they have no idea what’s going on with me which obviously keeps me worried. Please let me know if I’m crazy for my thinking and I appreciate your response.
Since January 2021, I randomly was barely able to walk when visiting a friend in New York and it was cold out. It was super scary, but I scheduled a neurology appointment to be safe. I ended up getting bloodwork done from the neurologist to which everything came back clean except for high Bilirubin (which they said shouldn’t be a cause for concern).
I then did a genetic test through invitae in which they found genes of uncertain significance. They found the SQSTM1 gene which is linked to Paget Disease of Bone 3, distal myopathy with rimmed vacuoles ALS/front temporal dementia, and neurodegeneration with ataxia, dystonia, and gaze palsy.
They also found the ALG2 gene linked to congenial myasthenia syndrome, and the ISPD gene linked to muscular dystrophy. (My grandmother has been diagnosed with myasthenia gravis)
I did an EMG after this back in 2021 which there wasn’t any significant findings, and shortly after the EMG my symptoms of leg weakness only occurred if I was doing extrenuous exercise, so I just stayed clear from running and kept on with life.
Things were going well for the most part up until December 2023 where the leg weakness got really bad again, and now ever since then things has been getting really difficult again. The fatigue in my legs has been bad, I’m having rare but occasional muscle spasms in my joint right next to me knee, my arms have been somewhat fatigued and I can’t be 100% sure but I think I have a little bit of atrophy in my forearms.
Mentally I have been a mess, and I’ve felt different behaviorly a little the past couple of months. I will preface and say that I have been super anxious about everything that came up on my genetic panel, and through the symptoms I’ve experienced on and off the last couple of years, but I try to stay positive and move my body the best I can/live life to the fullest.
I’m going to a neurologist in a month so I’m hoping to find out more from her, but I had two neurologists previously tell me they have no idea what’s going on with me which obviously keeps me worried. Please let me know if I’m crazy for my thinking and I appreciate your response.
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