No familial ALS here!

[heredownsouth]

Wow-what a day yesterday was. In previous posts, I mentioned that my father was diagnosed with ALS in August 2009. His brother passed away in Nov; my uncle had other medical problems, including ALS, but died from heart complications, as we were told. My dad had some genetic testing done about 6 weeks ago. Yesterday, I spoke with the nurse who told me that there were "no abnormal gene sequences" found, or in laymans' terms, no familial ALS. I am still waiting for the neurologist to call and discuss this with me further, but my family is so very happy to know that our risk of developing ALS is now much lower, if any at all. So, I am thinking that one of two things must have occured: #1 my uncle was misdiagnosed or #2 my dad and his brother were exposed to something environmentally that triggered this disease. Unfortunately, my uncle lived in another state and we were not able to be there to help or get first-hand information. There is no doubt in our minds that my dad has been diagnosed properly, as his is a textbook case of ALS. So, what do you think about my conclusions? Am I wrong to get to excited before speaking to the neurologist? Any input is appreciated.

 

[thelma313]

This is wonderful news and I'm no expert but I definitely think that you are not wrong to get excited. What a relief this is!
I am sure that your dad is relieved too. If he is anything like my dad, he is very protective of his kids. My dad's very first question after being told of his diagnosis was, "Is there any chance my children could inherit this?"

Please tell your dad he is in my thoughts.
Hugs,
Rosella

 

[K-Town]

Wow. Great news. I can imagine your relief.
I also think your neuro should research a bit deeper. It just takes one theory....
I find your post to be interesting...or.... Is it just strong hope?

 

[halfin]

I recommend that you read this page about familial ALS (FALS):

Genetics and ALS - The ALS Association

Unfortunately, genetic testing cannot rule out FALS. Not all mutations that are passed through a family can be identified genetically. At this time in fact they can only really test for one type of mutation, and it only occurs in about 20% of cases of FALS. So 80% of the time you can have FALS but the genetic test is clean.

My advice is to wait and see what you hear from your neurologist.

 

[Blubear]

Great news, I am so so HAPPY for you! I dont have the balls to find out if my dad has the gene or not....dont wanna know, as I have said. Maybe someday, he will just come to me and tell me the same good news you have gotten?! I think that all of your conclusions are correct. Take a big breath in, and EXHALE!
Hugs,
Kari

 

[Marjorie R. Wilcox]

I think his heart failed because his diaphragm was weakened and put strain on the heart... heart and lungs work together.
What do you think?

 

[hopingforcure]

Marjorie, that is what I would think also. I just lost a friend who had ALS to heart disease, so yep it is very possible. Hal I was thnking the same thing you wrote. This disease is just bad on way to many levels.

 

[asantiago]

I'm sorry to say that Hal is correct. I have studied this quite extensively as it is familial in our family. The genetic testing can only identify the SOD1 gene which occurs in a only a percentage of cases. Just becasue your family does not have that gene, does not mean your fathers ALS is not familial. I know that's not what you want to hear. The testing is not a good indicator if you will get ALS which is why my family declined to do it.

I'm surprised this was not all explained in detail by a genetic counselor.

 

[Blubear]

Asantiago, How is that possible? Are you saying that in the familial cases only a certain percentage of people actually have the SOD1 gene? My dad is looking at paying the 500.00 to get that test done even though I said I dont want to know the results. My doctors wife was on the scientific medical team that actually discovered the gene, and I see him tomorrow, should I talk to her about this? What all do you know?
URG!
Kari

 

[asantiago]

Yes, only a small percentage of familial cases have the SOD1 gene mutation.

Read the link posted by Hal, it explains it in detail. If you have questions about what you read let me know I'll try to answer them.

Here is a small excerpt that may clarify a little of what you are asking..

A negative test means only that the genetic cause of ALS has not been identified. However, this does not rule out familial ALS since there are still other unidentified genes that cause ALS in 80% of FALS families.

 

[Blubear]

Crap! I guess that heredownsouth and I are back on the worry boat together! I am still going to talk to my doc tomorrow about talking to his wife and the gene testing....helps to know one of the actual people who discovered it I guess. sigh.............
Hugs,
Kari

 

[asantiago]

Kari, do you have more than one person in your family history with ALS? If not, I don't see any reason to worry about it.

 

[Blubear]

Yea, my dads cousin died from it too. So, if he tested positive for the SOD1 then it is definately familial right?

 

[asantiago]

Aww, that stinks. Yes that would be correct. Also if he tests positive and you decide to be tested keep in mind that testing positive for the mutation doesn't 100% guarantee you will develop symptoms of ALS but you are a carrier and could pass it to your children. There is so much uncertanty in it all which is why we never opted for any tests.

I've convinced myself I will get it and think about it way more than I should. I hope it's not a self fulfilling prophecy. I'm planning for the worst and hoping for the best.

 

[Blubear]

I just want to live in the world of denial about perhaps getting it. I think of it as the same as my grandmother and grandfather both died of a stroke, my other grandmother of alzheimers and my other grandfather of cancer. I just add ALS to the list of possibilities. It is a beast of a disease that's for sure. I would hate to think that I have passed the gene to my daughter as well. I try to live in the present, because in the case of ALS there is nothing I can do about it if I knew anyway.
Hugs, Kari