SulleyAnneC
Member
- Joined
- May 19, 2021
- Messages
- 14
- Reason
- Lost a loved one
- Diagnosis
- 00/0000
- Country
- IT
- State
- IT
- City
- Milan
Hi all,
Thank you for taking the time to read my post, I hope this is the right section for it.
Please excuse my naïveté and sorry if I sound alarmed, I know I speak from a place of fear and I’m still learning about all this.
My question is should I be testing? My dad was diagnosed (spinal ALS) in 2017 at 59.
His symptoms were fairly atypical, it took them 2 years to diagnose correctly; he passed in 2019.
Before a trial he got into (2018) he got genetic testing, and this is the panel of genes they studied:
(
As you can see, he was not tested for the C9 mutation! I understand they run a standard panel on him, but c9orf72 is the most frequent mutation in ALS, so why not test that too?
The results were “no genetic relevance was found”. After that there’s a note in the report saying the L1CAM gene was found, classified as VUS (variant of uncertain significance), not being known his relevance for ALS.
A kind person I spoke to on a als Reddit suggested that they probably run the c9 test before the standard panel (because that’s the usual protocol) and didn’t give us the papers because it turned out to be not relevant/we didn’t ask for the papers/they got lost.
I reached out twice to the clinic but they have no record of that. They also told me the SOD gene test was necessary for trial.
I assume there’s a different protocol here. (I’m in Milan, Italy if that helps).
I have been scared about ALS myself for a while now. I know genetic testing speaks to lifetime risk and it’s not a diagnosis of a current situation. But again I think I want to know but I’m not sure.
For context: my grandma (dad’s mother) had dementia and Alzheimer’s. We don’t know of other ALS cases in the family but: my father’s dad died young (way before the age my dad got ALS) and his older brother also died very young in his 30s (both involved in accidents, not disease related). So, for both of them we don’t know whether they would be developing the disease later on.
This is something my dad’s doctor wrote as a note on his medical record. Also, his first cousins live on the other side of the world and we have lost contact with them, meaning that if any of them happened to develop the disease in the past few years, I wouldn’t know.
I never thought of testing myself and believed the “sporadic” theory for my dad’s disease, until a few months ago I started displaying scary symptoms (daily cramps, fatigue, dysphonia, mild hypereflexia) and a EMG displayed “signs of neurogenic rearrangement” (I wrote a post in the “Could this be ALS?” section of the forum, the symptoms got a little worse since then but I don’t want to update it until I have doctors’ news).
After an MRI and a second neuro visit back in December, my neurologist will not run other tests, says my symptoms all link to my spinal problem (one herniated disc in C5-C6) and “anxiety”, and I’m currently still debating whether to go to another doctor or just wait and see. He knows about my family history but he was not clear on what should I do. Do you think advisable for me to get tested? I understand that genetic testing is not be taken lightly but I am very scared.
Sorry for such a long post -
Please understand that it is not my intention being disrespectful to pALS or caregivers in any way, I’m just trying to understand things.
thanks
Thank you for taking the time to read my post, I hope this is the right section for it.
Please excuse my naïveté and sorry if I sound alarmed, I know I speak from a place of fear and I’m still learning about all this.
My question is should I be testing? My dad was diagnosed (spinal ALS) in 2017 at 59.
His symptoms were fairly atypical, it took them 2 years to diagnose correctly; he passed in 2019.
Before a trial he got into (2018) he got genetic testing, and this is the panel of genes they studied:
(
As you can see, he was not tested for the C9 mutation! I understand they run a standard panel on him, but c9orf72 is the most frequent mutation in ALS, so why not test that too?
The results were “no genetic relevance was found”. After that there’s a note in the report saying the L1CAM gene was found, classified as VUS (variant of uncertain significance), not being known his relevance for ALS.
A kind person I spoke to on a als Reddit suggested that they probably run the c9 test before the standard panel (because that’s the usual protocol) and didn’t give us the papers because it turned out to be not relevant/we didn’t ask for the papers/they got lost.
I reached out twice to the clinic but they have no record of that. They also told me the SOD gene test was necessary for trial.
I assume there’s a different protocol here. (I’m in Milan, Italy if that helps).
I have been scared about ALS myself for a while now. I know genetic testing speaks to lifetime risk and it’s not a diagnosis of a current situation. But again I think I want to know but I’m not sure.
For context: my grandma (dad’s mother) had dementia and Alzheimer’s. We don’t know of other ALS cases in the family but: my father’s dad died young (way before the age my dad got ALS) and his older brother also died very young in his 30s (both involved in accidents, not disease related). So, for both of them we don’t know whether they would be developing the disease later on.
This is something my dad’s doctor wrote as a note on his medical record. Also, his first cousins live on the other side of the world and we have lost contact with them, meaning that if any of them happened to develop the disease in the past few years, I wouldn’t know.
I never thought of testing myself and believed the “sporadic” theory for my dad’s disease, until a few months ago I started displaying scary symptoms (daily cramps, fatigue, dysphonia, mild hypereflexia) and a EMG displayed “signs of neurogenic rearrangement” (I wrote a post in the “Could this be ALS?” section of the forum, the symptoms got a little worse since then but I don’t want to update it until I have doctors’ news).
After an MRI and a second neuro visit back in December, my neurologist will not run other tests, says my symptoms all link to my spinal problem (one herniated disc in C5-C6) and “anxiety”, and I’m currently still debating whether to go to another doctor or just wait and see. He knows about my family history but he was not clear on what should I do. Do you think advisable for me to get tested? I understand that genetic testing is not be taken lightly but I am very scared.
Sorry for such a long post -
Please understand that it is not my intention being disrespectful to pALS or caregivers in any way, I’m just trying to understand things.
thanks
Last edited by a moderator:
