Genetic testing necessary?

[Tholsclaw]

Hello everyone. First post.

My father and his sister both died from ALS nearly 30 years ago. Neither had genetic testing. I am a 52 year old female beginning to present with symptoms that I think could be onset. I have an appt with a neuro in January.
Would genetic testing be of any benefit to me at this point? We would have no comparison to my dad's genes at this point. What would the benefit be?

Thanks for reading.

 

[Nikki J]

Currently the results of genetic testing are specifically not part of the diagnostic criteria. It even says don’t consider genetic status. It has been proposed by a group led by Dr Benatar that the criteria be changed for documented carriers but it hasn’t happened so far. So genetic testing won’t get you diagnosed.

However there is no need for comparison with other family. There are panels of ALS mutations that can be ordered. There was a program for free confidential testing in the US but it just closed I believe their grant finished

Should you get diagnosed or even at the point where the suspicion is high and just need to wait for tests then yes you should test. Sod1 has a treatment that helps ( not a cure) and also a couple of promising trials. There is also a promising trial for fus. The most common mutation in the US is c9orf72 though and there is no current special treatment though still worth knowing I think

If you get cleared as I hope you do you could look into participating in the prevent study an arm of a big observational study of ALS that is specific to carriers and potential carriers. There will be 35 sites in the US

 

[Tholsclaw]

Thank you for your response. Your info is helpful. I'm so sorry to read about your ALS history. I was a former CALS x 2 as well. So, I feel like I have an insight/experience that many who get diagnosed do not. Not that it is a good thing! I haven't been living my life the last 30 years waiting for symptoms, that's for sure. But, I do have an acute sense of noticing my symptoms. I hope I get cleared as well. But if not, I'm prepared to embrace the journey.

Thanks again for your insight.

 

[Nikki J]

Let us know what happens. I agree that it isn’t a good thing to know the path so completely when diagnosed. A study coordinator once said to me it must be easier for FALS as we know. They didn’t mean to be hurtful but it was a ridiculous statement. It is also true that the course may be different for family members. I am very different than my sister we both are/were different than our mother. I am so far like one of my aunts though

 

[Megatron]

With all due respect, you need to get in to see your neurologist as fast as you can. Just this week Medicare has announced it will cover the medication known as tofersen/qalsody. This medication is unquestionably, for the first time ever, improving the quality of life for those with familial cases (mine is sporadic). Surely you will need to undergo genetic testing to confirm that your case is in fact familial, though the testing is not diagnostic in nature.

 

[Nikki J]

The new CMS rule was directed at Medicare Advantage programs. Original medicare already covered qalsody. Unfortunately CMS rules do not apply to commercial insurance Qalsody is only for the 12-20% of fals that is sod1 not all FALS. However with an unknown for now mutation in ops family they certainly need to test if the neurologist has any degree of suspicion.

 

[Tholsclaw]

I have my first appointment Jan 3rd with the neurologist. I have private insurance. The neurologist is affiliated with an ALS clinic in my state, but my appointment is at a satellite office.

Thanks for all of your help.

 

[Nikki J]

I am glad you are being seen soon. Look at the stickies in could those be also and in the resources section of general on getting a diagnosis and second opinion ( even though it is your first) to help you prepare. The more organized you are the better it will go.

Be sure to write down everything you want to say as it is easy to forget something when you are there. You might want to check your insurance coverage for genetic testing in the meantime. You are going to want it done of course if the neurologist has any worries but I don’t think there is currently a free option. My commercial insurance would only pay if I had symptoms. I know in the past som e people’s didn’t cover at all. It might be if that is the case you wouldn’t want the full panel but may be sod1 and perhaps c9 to start. Genetic testing isn’t as expensive as it used to be though

Do let us know

 

[Tholsclaw]

Saw my neurologist and he is referring me to the ALS clinic in Charlotte. He did not give me a diagnosis, but said with my family history and clinical exam results, he thinks that's the next best step. My blood work is trickling back in and I don't understand the significance; aldolase and ionized calcium serum tests. What is the significance of these?

Thanks!

 

[lgelb]

These help rule out other causes of your issues. They are not ALS-specific. Were they abnormal?

 

[Tholsclaw]

Yes, so far those have been normal. Thank you for your input.