old dog
Distinguished member
- Joined
- Aug 27, 2011
- Messages
- 315
- Reason
- DX UMND/PLS
- Diagnosis
- 08/2011
- Country
- US
- State
- OR
- City
- Scio
I've asked this question before but want to see if anyone has new information. When I was going through the diagnostic process, the neuro I was seeing suggested genetic testing through the Athena Lab in the Boston area. (Think this lab has a new name now) The cost was about $35,000, so it was out of the question for me. I understand genetic testing is much cheaper now.
Previously, someone replied, "What would I test for?" The answer is, "I don't know." Here is my story. My father and grandfather both lost the use of their legs. My grandfather died when I was six; based on what I can remember, I think he may have had ALS. His diagnosis was a series of small strokes, but he never saw anyone except our small-town country doctor. He lost the use of his legs, then his voice, and then was bedridden until the end. My father, at the age of 66, collided with a train on his way to work. He suffered a serious head injury. He gradually recovered, but the lasting effects were similar to a stroke. He eventually lost the use of his legs, and his other symptoms were eerily like mine, although he did not lose his voice. He was 87 when he passed of other causes.
Several years ago, I participated in a study where I donated a skin sample. I don't recall the full name of the study. I was told by a program assistant that there was something in my blood that was interesting, and the PI wanted a sample of my son's blood. My son was in another state at the time and didn't ever provide the sample. The program assistant also told me my PLS came from the mitochondrial DNA which meant it came from my mother. That would be the opposite of my family history. My mother died of leukemia when I was three. As far as I know, no one in her family had ALS. Dementia is prevalent in her family, and there is some epilepsy.
I apologize for the length of this post; I wanted to make it clear why I'm interested in genetic testing if the cost is no longer prohibitive, and also why I don't know which specific gene mutation to be tested for.
Previously, someone replied, "What would I test for?" The answer is, "I don't know." Here is my story. My father and grandfather both lost the use of their legs. My grandfather died when I was six; based on what I can remember, I think he may have had ALS. His diagnosis was a series of small strokes, but he never saw anyone except our small-town country doctor. He lost the use of his legs, then his voice, and then was bedridden until the end. My father, at the age of 66, collided with a train on his way to work. He suffered a serious head injury. He gradually recovered, but the lasting effects were similar to a stroke. He eventually lost the use of his legs, and his other symptoms were eerily like mine, although he did not lose his voice. He was 87 when he passed of other causes.
Several years ago, I participated in a study where I donated a skin sample. I don't recall the full name of the study. I was told by a program assistant that there was something in my blood that was interesting, and the PI wanted a sample of my son's blood. My son was in another state at the time and didn't ever provide the sample. The program assistant also told me my PLS came from the mitochondrial DNA which meant it came from my mother. That would be the opposite of my family history. My mother died of leukemia when I was three. As far as I know, no one in her family had ALS. Dementia is prevalent in her family, and there is some epilepsy.
I apologize for the length of this post; I wanted to make it clear why I'm interested in genetic testing if the cost is no longer prohibitive, and also why I don't know which specific gene mutation to be tested for.
