Parkinson's and FALS?

[AnxiousWaiting]

Hello, I wanted to know about the value of getting genetic testing for my mother, who is 79 and in the final stages of ALS, and for me, a 40 year old father of 2. My maternal grandmother was diagnosed with Parkinson's in Asia at the age of 58. This was in the 1970's. she developed dementia and died within three years.

My concern is that my grandmother's Parkinson's/ might be genetically similar to my mother's ALS. Does that make sense? Alternatively, perhaps she had ALS and it was misdiagnosed in a country without sophisticated medicine? 3 years is a fast death for Parkinson's.

In the meantime, I have over the last 6 months developed symptoms similar to what I've learned through my mother are common ALS symptoms: body wide fasciculations; weakness in my left arm; and brisk reflexes (all 4 extremities). None of the neurologists are mentioning ALS and I've had 3 clean EMGs, two done by the director of an ALS clinic. They see the problems as most likely linked to my neck. However, I'd like to stay on top of this.

What are the benefits of getting my mother and me tested for the SOD1 and c9 genes? I would prefer that a positive finding for the gene not hang over my head. However, I would like my kids to get access to new treatments if they ever have to deal with the disease.

I've posted in "do I have Als" and the "CALs" forum on various matters. I would love to hear from FALS folks on whether they think I should keep knocking on doors until I get a definitive diagnosis. But I realize that this is not the place to query whether I have Als.

 

[Nikki J]

Have you discussed the genetic testing with your mother's neurologist and yours?
Are you willing to pay for it? Many insurances do not cover it.

Parkinson's is relatively common are there other neurodegenerative diseases in that side of the family?

C9 is primarily found in those of white European descent ( there is a clump in one part of Japan which makes me wonder if an early European explorer played a part- the original founder is theorized to have been a Viking). Your comment on Asia made me wonder how likely c9 would be even if you were clearly FALS ( which at this point you are not)

Nothing will change immediately even if a FALS gene is identified ( unlikely). Even if you were a known gene carrier it wouldn't give you a diagnosis

If you let this go and were later diagnosed testing could happen then with you for your children

Genetic testing is a difficult issue right now as protections for pre- existing conditions are in jeopardy

 

[gooseberry]

I am not a fals but I have a suggestion. Since the privacy and preexisting conditions are a concern, you might want to ask if you could have the testing as a john doe. Sometimes it is a possibility. You get a script for testing with either john doe or a unique identifier number for a name. Your demographics are yours. You can leave off the ssn if you aee willing to pay out of pocket.

 

[lgelb]

Even supposing a John Doe test, you would want any positive results to be in your ongoing medical record, to which the MIB and insurers have access.

Also, it doesn't appear that genetic testing would have much yield in your case.

 

[AnxiousWaiting]

Thanks for the responses.

Nikki -- My maternal grandmother had two brothers who also died of Parkinson's. But they were both boxers and developed the disease in their 80's. My mother has a first cousin who has muscular dystrophy. He was diagnosed at 40 and is still alive in his 70's. We are from South Asia. I doubt that this is the c9 gene. And if the Parkinson's gene(s) is different from all of the known ALS genes, then I guess that the risk of FALS is not increased? My mother's case would still be considered sporadic barring a genetic test?

I have spoken to my mother's neurologist with the clinic (who is also my main neurologist now). She says it's up to me and my mother as to whether to get tested for the SOD1 gene. her main question is what I would do with the information if she has the mutation. Will I worry the rest of my life about being diagnosed? Will my mother spend her last months worried that her son and grandchildren are at risk?

I'd love any thoughts.

Laurie and Gooseberry -- the John Doe idea is a good one, but if it's not in my medical records, then not sure my kids would benefit from the test results.

Thanks.

 

[Nikki J]

IF there is enough suspicion to test for sod1 which I am not convinced there is in your case there could be benefit in the future as it is likely when gene blocking therapy is perfected they will look at giving it to gene positive people before symptoms. My doctor has spoken of this

Regarding testing and medical records for your children having your mother tested and communicating the results at an appropriate time would be all that was necessary ( a copy of her results might be helpful to keep too). I still think you are barking up the wrong tree but if the neuro thinks testing is reasonable for your mom that would be the way to go. ( though it is your mom's choice ultimately).

 

[AnxiousWaiting]

Nikki,

Thanks for the quick response. Well, my mother's neuromuscular specialist does not suspect FALS. She has dismissed my grandmother's Parkinsons. However, she understands why I'd be concerned and recognizes that I may get some degree of relief if the mutation is absent. Thus she said "sure, we can get the test done if you want to do it" but then provided several caveats.

I must admit that part of this is my need for reassurance. I'm visiting the issue of the SOD1 gene after the neurosurgeon found brisk reflexes and weakness (despite two clean EMGs from the neuromuscular specialist in the weak arm). He thinks it's neck, but too many question marks in my mind. HOWEVER, need for reassurance aside, it would be nice to have much of a genetic picture of my family's neuro issues as possible. Three cases of Parkinsons in one generation; ALS and muscular dystrophy in the next. It would be nice to have a scientific understanding, even if limited to one gene mutation for ALS at this point. And on top of that, my kids and I could benefit. It sounds like we could get the data about my mother and keep it quiet from the kids (which is what I would do).

 

[AnxiousWaiting]

Sorry! Trying to delete a duplicate entry.

 

[KimT]

If I were your mother, I'd want to be tested. Anything that could take the worry off a child would be worth it for me.

 

[amitch1981]

Hello, I completely understand your desire/inquiry about genetic testing. I'm new to the Forum and made a post earlier this week regarding my older brother who transitioned in 2006 due to ALS at the age of 39. We have no other family history of ALS, but I did confirm that my paternal grandfather had dimensia and died of a stroke. I, too, am having body-wide fasciculations and am in the process of having a brain and spinal MRI and an EMG. My first visit with the neurologist did not reveal any clinical weakness, but I just feel very shaky and uncertain at this time.

I will certainly keep you in my thoughts and prayers. I will also add that anxiety doesn't help... All it does it make matters worse. So, I've done my best to just relax (as much as possible). Since my brother is no longer with us, genetic testing would be that much more difficult. My brother was diagnosed at John Hopkins, but I doubt they did any genetic testing on him. I suppose I could request his medical records...

 

[Nikki J]

I am closing this as it is turning into a DIHALS thread. both of you had / have a relative affected but your anxieties are dihals and neither of you have any real reason to suspect FALS