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Cris R

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Hi all and Happy Thanksgiving!

I have a question for some of the forum members here and was wondering what your opinions are on this matter.

My father was just diagnosed with what neurologists consider to be "sporadic" ALS. My father has a long line of medical history on his side of the family and there is no sign of ALS on either his mother or fathers side (my grandparents).

My father is 58 and the neurologists that diagnosed him are from the University Of Maryland and Johns Hopkins. My parents asked them a few times if my brothers and I need to be concerned about inheriting this disease from my father.

Both teams of neurologists have told them that we do not need to worry and that they all agree that my fathers case is sporadic. They do not suggest at all with going forward with genetic testing.

However, I've made the mistake of digging deep into the internet for answers to questions and further information. BAD IDEA! I should have just been content with the neurologists diagnosis but it wasn't good enough in my mind.

My question for you is, should I force my father into a genetic test to see if there is a chance he passed along any of the known genes associated with ALS to myself or my brothers? I know that if he did, it wouldn't matter anyway. There is no cure and I should just live my life and enjoy the time with my father.

HOWEVER, I have two small children. Obviously with no family history of this disease. we've never even thought of being genetically tested for abnormalities of such a rare disease to begin with. So I never had any second thoughts of passing something along to my children.

My concern is for my kids. If my father had incidentally passed along a bad dominant gene to me and my brothers, then there is a good chance I passed it along to my children. If this is the case, I would want them to know that if there is a chance they have this dominant gene which they could inadvertently pass onto their children. At least they would have a choice and know ahead of time.

Or should I just take the advice of the neurologists from some of the best hospitals in the world let along the United States? You know, because my brain is telling me that I know better than they do.

BTW, I hate the internet sometimes.
 
I am sorry for your father's diagnosis. The odds are very much against this being genetic. FALS is rare. 5 to 10 percent of ALS is FALS. That being said if insurance will pay for the tests they are just bloodwork. Very expensive for a whole panel though, thousands of dollars ( not sure how many). There is one gene defect c9 orf72 that does occur in a percentage of SALS. If your dad had that and it is not familial the significance to you would be uncertain but a very few neuros are starting to test their SALS patients. The optimum thing in the future would be genome sequencing for all ALS patients on diagnosis.

If your dad is willing find out if insurance covers and then he could ask his doctor for the ALS gene panel.
 
I am sorry for your father's diagnosis. The odds are very much against this being genetic. FALS is rare. 5 to 10 percent of ALS is FALS. That being said if insurance will pay for the tests they are just bloodwork. Very expensive for a whole panel though, thousands of dollars ( not sure how many). There is one gene defect c9 orf72 that does occur in a percentage of SALS. If your dad had that and it is not familial the significance to you would be uncertain but a very few neuros are starting to test their SALS patients. The optimum thing in the future would be genome sequencing for all ALS patients on diagnosis.

If your dad is willing find out if insurance covers and then he could ask his doctor for the ALS gene panel.

So just to understand this a bit better. The Neuros feel that in my fathers case that some environmental or viral issue is what probably caused a mutation? Which in turn ended up giving him ALS? Essentially they don't know, correct? But they are dismissing genetic/familiar ALS because we have zero family historyof ALS. And in familial cases, there has been some sort of ALS in the family tree. Our medical records go back to my great grandparents, uncles, aunts, and cousins on my fathers side with no history.
 
Probably your dad has no identifiable mutation at all. He is SALS and no one really knows how this happens. There is a small chance of a spontaneous mutation. The chance of FALS with no family history is very small indeed. My family is FALS. 4 out of 5 of last generation died from our genetic defect. My sister has ALS now. This is common in FALS families
 
Cris, your feelings are normal. If you are worried and don't have money problems, get the testing to set your mind at ease. I would highly doubt that you have to worry about inheriting ALS though.

Here is an idea; his diagnosis is new and the testing is not going to change anything. why don't you wait a couple months and let the high emotions settle down before you talk to him about it. Honestly, you have a lot more pressing concerns with his diagnosis to worry about than your kids chance of someday getting ALS. I hope you will spend time here on the forum. we can support you and help you with a lot of questions. encourage your dad and your mom to get on too. she will especially need support. you, your brother, your mom and dad have a hard and tough road ahead of you.

Good luck and I hope everything works out.
 
I'm sorry that you and your family will be taking this journey. I agree with all that has been said so far, and want to encourage you to remember that as time goes by science and medicine grows exponentially. Obviously not fast enough for most of the people that have been diagnosed with ALS up to this point. On Oct. 31/13 the gene was discovered in Winnipeg Manitoba that is responsible for Sporadic ALS, and they will be working on splicing that gene in efforts to correct the mutation. Again, I doubt that my husband will benefit by this discovery, but I believe that our children and grandchildren will. So, keep the faith that one day we will defeat this disease, and deal with the immediate needs right now, that will take most of your energy at this point.
 
Cris, your feelings are normal. If you are worried and don't have money problems, get the testing to set your mind at ease. I would highly doubt that you have to worry about inheriting ALS though.

Here is an idea; his diagnosis is new and the testing is not going to change anything. why don't you wait a couple months and let the high emotions settle down before you talk to him about it. Honestly, you have a lot more pressing concerns with his diagnosis to worry about than your kids chance of someday getting ALS. I hope you will spend time here on the forum. we can support you and help you with a lot of questions. encourage your dad and your mom to get on too. she will especially need support. you, your brother, your mom and dad have a hard and tough road ahead of you.

Good luck and I hope everything works out.

Thank you for your support. I definitely understand the circumstance that my father faces as well as the circumstances myself and the rest of my family face going forward. My father and I actually talked tonight and he assured me that his neurosurgeon dismissed his case as familial ALS. However, he meets with his another neurosurgeon on Monday for his 3 month checkup at which point he will readdress the issue.

I'm certain that he'll get the same answer as he did before though. We have absolutely no family history of this disease. He's asking again just for my own peace of mind. I guess any parent no matter what they are facing will still do anything for their own child. I don't want to feel selfish but I'm asking on behalf of my children. So essentially it's a situation where two fathers are trying to guard their children to the best of their ability.

I appreciate the kind words of support and there is a good chance I will definitely be leaning on the members of this board for support. It's hard for me express my feeling with my family as I don't want to feel selfish as my father is the one who is going to be dealing with this disease head on. So at least here, I can keep things anonymous and not have to burden my family.

I understand that dealing with this disease plays a large role not just on the person who is afflicted but the support group around them. I want to be strong for my parents. My mother will be leaning on me for support and I need to be strong for her.

I know there are a lot of members on here that are dealing with this disease head on. I hope that some of you will be able to help me understand what my father will be going through. You will probably be my total support group. I will need to take over for my father going forward. My mother is lost right now and I'm her oldest son so if I ask a naive question, please understand that I mean no disrespect.

I'm sorry for anyone that has to face this disease head on. Especially the ones who are afflicted.

I wish you all the best and I appreciate the support.
 
Cris, It is easy to see by your post what a loving and caring person you are. your parents are lucky to have you.
 
Probably your dad has no identifiable mutation at all. He is SALS and no one really knows how this happens. There is a small chance of a spontaneous mutation. The chance of FALS with no family history is very small indeed. My family is FALS. 4 out of 5 of last generation died from our genetic defect. My sister has ALS now. This is common in FALS families

Hi Nikki, just one more question if you don't mind? I've seen some your other posts and you seem to be really "in tune" with this disease, especially the FALS side of it.

My father has 4 brothers (none of which are affected by ALS), both of my grandparents are still alive and only recently have some of my grandmothers brothers have passed. All without any symptoms of ALS. My grandfather has two sisters that are still alive and healthy. Obviously they are well into their years but still living their lives to the fullest. And none of my great grandparents had any symptoms of ALS either. On either side of my grandmother or grandfather. Essentially my father is the first case of ALS in three generations of medical history with a large family.

Shouldn't ALS have reared it's head at some point in either of those lines if my father were dealing with FALS?

Also, I've read some really interesting stuff on links between Statin drugs and ALS diagnoses. My father has been on statin drugs for quite some time and he was a bit alarmed when his neurologists were adamant that he stopped taking any and all Statin drugs immediately. Really makes you wonder if there is a link? There are a lot of people out there who have come forward as statin users diagnosed with ALS and wholeheartedly believe that their ALS was due to statin drugs they were taking. It's a pretty compelling link when you see such a rare disease pop up with people specifically using this brand of drug.

I also read that the FDA is still doing further testing even though they "somewhat" declared that there was no link between the two. It's like they know there is something going on here but won't fully come out and admit there could be a small percentage of statin users that could be afflicted with ALS. If they linked the two, it would spell absolute disaster for all statin drugs.
 
Sorry bud,
Sucks....but you will find help and support here

Best
Jerry
 
Hi again Cris
Yes the odds of this being FALS are incredibly low.

The statin and cholesterol thing is interesting. It is believed that PALS with higher LDL readings progress slower. Whether there is any other link to statins I don't know. Since the disease process has been going on for a while before diagnosis if the statin does its job and lowers LDL then symptoms might show up sooner. My mom had untreated high cholesterol for years and only started symptoms after taking a statin. Might be pure coincidence but it does make me think she might have been asymptomatic longer without treating the cholesterol. As I am an asymptomatic gene carrier I personally would not treat high cholesterol. ( but I would if I were gene negative) just my opinion.
 
Hi again Cris
Yes the odds of this being FALS are incredibly low.

The statin and cholesterol thing is interesting. It is believed that PALS with higher LDL readings progress slower. Whether there is any other link to statins I don't know. Since the disease process has been going on for a while before diagnosis if the statin does its job and lowers LDL then symptoms might show up sooner. My mom had untreated high cholesterol for years and only started symptoms after taking a statin. Might be pure coincidence but it does make me think she might have been asymptomatic longer without treating the cholesterol. As I am an asymptomatic gene carrier I personally would not treat high cholesterol. ( but I would if I were gene negative) just my opinion.

Thanks for the reply Nikki! I guess the first thing after diagnosis is trying to figure out "why?" My father also suffered a really nasty concussion in a car accident some years ago as well. I know that with all of the ALS cases in the NFL, that doctors have been trying to link major head trauma and ALS. Something is definitely going on when you have such a rare disease affect 27 ex NFL players over the years.

Just going thought he process of everything, you know?
 
Cris, there is no answer to "why?" don't waste your energy on that. spend it on "How"---to fight it, live with it, enjoy the time left, make him comfortable.
 
Cris, there is no answer to "why?" don't waste your energy on that. spend it on "How"---to fight it, live with it, enjoy the time left, make him comfortable.

You are right Barbie. I guess it's just the response that we automatically go through. Deep down I've read enough to understand that.

It's just crazy because you want to be able to blame it on something other than just bad luck and a hiccup in my fathers genetic makeup.

I've read a lot that on how science has really come far in just the last few years on trying to understand this disease. It may be too late for my father but maybe they can figure something out sooner than later. Maybe not a cure but at least something that can halt the progression or something along those lines.

Just like cancer. No cure but there are plenty of effective ways to make it go away for a while if it's caught early enough. My neighbor who is close to me in age just found out his father has stage 4 pancreatic cancer. So we'll be both dealing with a rough road ahead.

You think you are alone sometimes but everyone seems to be going through something.
 
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