In reading the article about delayed diagnosis I’m prompted to tell my story. I had a bulbar onset that was so minimal that when I had my annual physical in April 2018 I forgot to mention it to my PCP. In October 2018 when I had continuing problems with speech, and fasciculations in my thighs, I contacted the ALS Center and saw a neurologist […] View
I see from the discussion that the stage of speech impairment is critical to this decision. In August 2019 I was still able tor read phrases more or less naturally and I’m glad I did. it’s nice to have my own voice on my SGD. Although I’m still able to talk with varying degrees of intelligibility.
I too face two competing trials. One in Gainesville will test Metformin which is has been shown to slow progression in mice with the C9orf72 mutation. The other is the Healy platform trial which will take place in the New Orleans area. The Healy trial hasn’t started screening while the Gainesville trial has. I consulted with my neurologist and she recommended the Healy trial. As long as the trial starts screening in time I’ll follow her suggestion. If you have a neurologist you trust I would follow their recommendation.
I was diagnosed in June 2019 and attended my first ALS clinic in July 2019. I then went to the same clinic in October and January and switched clinics in March 2020. I was surprised when the new clinic offered me Nuedexta because it had not been offered to me before. I’m still able to talk and swallow solids and liquids which I attribute to the Nuedexta. Every time I go to the clinic I get angry because in place of effective treatments I’m greeted by future forecasts and underestimation of my current abilities. I’ve told all the providers that all I have to treat myself is a positive attitude and most of the providers do their best to reduce my positive spirit. But since I learned about Nuedexta, and get to bounce ideas off of the providers, and since the clinic I currently go to will be a participant in the Mass Gen clinical trial, I plan to keep going to the clinic. It takes me a day or two to recover.
My cousin died of ALS in 2013. I first had symptoms in early 2018 and was diagnosed with ALS on June 6, 2019. Through genetic testing I found out I have the C9orf72 mutation. When I spoke to the genetic counselor she thought i was unlikely to fall into the category of familial ALS. After the test results she consider me as fitting into the category of familial ALS. I’ve read that in rare instances the gene mutates spontaneously and is not inherited. My cousin is through the paternal line. My dad lived to 91 and never showed any signs of ALS. My cousin’s mom — my dad’s sister –died from Alzheimers.
I’m left wondering whether I’ve inherited the mutation or I’m the rare instance of spontaneous mutation. AS a result I’m in favor of all PALS having genetic testing done. My cousin’s case was considered sporadic but since we don’t have genetic test results from him we can’t say for sure. As we can’t predict which of us will be diagnosed with ALS in the future that’s why I think it’s important for PALS to undergo genetic testing.
I have three adult children and if any of them test positive for the C9orf72 mutation that will more or less confirm that I have familial ALS but whether they will be tested is for each of them their own choice.
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This site is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.