4 ms·

Both of my Grandmothers died of this terrible disease (My mom's mom and my Dad's mom, obviously no relation). One died well before I was born and the other when

Both of my Grandmothers died of this terrible disease (My mom's mom and my Dad's mom, obviously no relation). One died well before I was born and the other when I was only 8. It takes away your ability to communicate pretty early on, as you slowly lose access to your muscles, all while your brain remains active. The inability for one to help themselves really makes this just horrible. I often worry about the genetic implications of this. If the disease has any genetic predisposition, then I would certainly be out of luck. My mother and father are both well, approaching 60, but they would only have half of the genetic concern I do. We just don't know. The disease remains a serious mystery to us. I hope that in my lifetime, we are able to understand more about the disease, what causes it, and hopefully find a cure.

tasty_freeze 5y ago
> they would only have half of the genetic concern I do. It is complicated. If it is due to a flaw in one of the X or Y chromosomes, that greatly changes the calculation. Dominant/recessive categories changes the math. But ignoring all that, it seems like you have the same risk as your parents: for them, there is a 50% chance they got it from one known carrier; for you, there is a 25% change of having gotten it from each of two known carriers.
- callesgg 5y ago
  That is assuming a very simple genetic model that is only fully valid in cases where a symptom is caused by a single gene malfunctioning by it self. Also ignoring gene to gene interactions that can have adative or worse effects.
  - tasty_freeze 5y ago
    Exactly -- like I said, it is complicated. What I said was the simplest case possible: not X/Y related, disease caused by a single gene.
karrot-kake 5y ago
The disease may not be genetic. Only a small percentage is. My dad has ALS and in his case is not genetic (lucky me). The disease starts and progresses in different paces for different people - my dad has it for almost 7 years and still talks and eats like before. For him, the first thing to go was his arms; now his legs are almost paralyzed as well. In his case, it probably is associated with the fact that he worked with agrochemicals his whole life, in a time when regulations and PPE where much loosier. He tells stories of taking baths of substances while his dad worked in orchards.
- ravedave5 5y ago
  My mother in law got it from agro chemicals as well.
- bobf 5y ago
  I don't know what the interest or accessibility of edaravone (Radicava) treatment might be for your dad, but I'd be happy to share my experience with you by email if that is useful - my address is on my HN user page.
- georgeburdell 5y ago
  Not to be offensive, but is ALS his confirmed diagnosis? I have two family members who were diagnosed with different rare muscle-wasting diseases and have lost most of their arm and leg function over the past decade. Eating/breathing unaffected. They both lived on farms so we’ve always suspected there was a link.
- alfon 5y ago
  Was reading this article and this comment came to my mind. https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4832962/ https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4832962/ "Organophosphate poisoning is highly lethal as organophosphates, which are commonly found in insecticides and nerve agents, cause irreversible phosphorylation and inactivation of acetylcholinesterase (AChE), leading to neuromuscular disorders via accumulation of acetylcholine in the body."
throwawayboise 5y ago
My mother had it. There is no family history that we know of. At the time we were told it may be genetic, but it also may appear spontaneously. It affects people differently. For some it strikes the feet and legs first, for some the arms and neck. Some people like Stephen Hawking live with it for years, some only survive a year or two after diagnosis. It's rare, so diagnosis is often preceeded by wrong guesses at more common explanations for the symptoms. There is no test for it; it's basically diagnosed by ruling out everything else.

tasty_freeze 5y ago

> they would only have half of the genetic concern I do. It is complicated. If it is due to a flaw in one of the X or Y chromosomes, that greatly changes the calculation. Dominant/recessive categories changes the math. But ignoring all that, it seems like you have the same risk as your parents: for them, there is a 50% chance they got it from one known carrier; for you, there is a 25% change of having gotten it from each of two known carriers.

callesgg 5y ago
That is assuming a very simple genetic model that is only fully valid in cases where a symptom is caused by a single gene malfunctioning by it self. Also ignoring gene to gene interactions that can have adative or worse effects.
- tasty_freeze 5y ago
  Exactly -- like I said, it is complicated. What I said was the simplest case possible: not X/Y related, disease caused by a single gene.

karrot-kake 5y ago

The disease may not be genetic. Only a small percentage is. My dad has ALS and in his case is not genetic (lucky me). The disease starts and progresses in different paces for different people - my dad has it for almost 7 years and still talks and eats like before. For him, the first thing to go was his arms; now his legs are almost paralyzed as well. In his case, it probably is associated with the fact that he worked with agrochemicals his whole life, in a time when regulations and PPE where much loosier. He tells stories of taking baths of substances while his dad worked in orchards.

ravedave5 5y ago
My mother in law got it from agro chemicals as well.
bobf 5y ago
I don't know what the interest or accessibility of edaravone (Radicava) treatment might be for your dad, but I'd be happy to share my experience with you by email if that is useful - my address is on my HN user page.
georgeburdell 5y ago
Not to be offensive, but is ALS his confirmed diagnosis? I have two family members who were diagnosed with different rare muscle-wasting diseases and have lost most of their arm and leg function over the past decade. Eating/breathing unaffected. They both lived on farms so we’ve always suspected there was a link.
alfon 5y ago
Was reading this article and this comment came to my mind. https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4832962/ https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4832962/ "Organophosphate poisoning is highly lethal as organophosphates, which are commonly found in insecticides and nerve agents, cause irreversible phosphorylation and inactivation of acetylcholinesterase (AChE), leading to neuromuscular disorders via accumulation of acetylcholine in the body."

throwawayboise 5y ago

My mother had it. There is no family history that we know of. At the time we were told it may be genetic, but it also may appear spontaneously. It affects people differently. For some it strikes the feet and legs first, for some the arms and neck. Some people like Stephen Hawking live with it for years, some only survive a year or two after diagnosis. It's rare, so diagnosis is often preceeded by wrong guesses at more common explanations for the symptoms. There is no test for it; it's basically diagnosed by ruling out everything else.