bulbar ALS

[Tom J]

I was diagnosed 12/13/2019 with bulbar onset ALS. I had experienced an extreme weight loss from 162 to 118.6 pounds in 8 months. Looking back at symptoms now, it seems like 03/2018 I had a voice change and started minor drooling. The day after diagnosis I had a feeding tube installed. I have gotten all nourishment, fluid and meds through tube since. I am “NPO” medical speak for nothing by mouth. My diagnosis was almost same day as seen by neurologist. All tests, I.e: MRI, EMG, Swallow study, 2nd and third neurologist opinions.

I started having minor neck muscle weakness in August 2018 and now have right arm weakness. I have fallen 4 times in past 90 days without major injury. I have a PWC supplied by VA. I am a veteran and the VA has taken great to me. That is a separate discussion in the veteran message board.

My speech is not understandable and that is very frustrating. I have an iPad for communicating. I am fighting this monster called ALS with all that I am. Good luck to all of you.

Tom

 

[Denisemarie123]

Thank you, everyone! I am finding reading about everyone's experiences is giving me knowledge and strength. My husband tested positive for the C9 gene. We have 2 daughters so I feel devastated on so many different levels. I haven't had the courage to tell them their Dad's diagnosis and hope to have these holidays where they can just be carefree and happy before changing their lives forever.

 

[Nikki J]

While this is difficult to deal with given family history you knew there was FALS. It is much much better to have an identified mutation than to be among the 30 or so percent with no identified mutation. There is considerable hope for the near future for prevention treatment for carriers. C9 is common and because of this has been a major research focus ever since it was identified 9 years ago

i do not know how old everyone is. If your daughters are adults they can help by participating in genetic studies. There are several where you do not need to know if you carry the family mutation as long as you are a first degree relative of a genetic carrier. If they are planning families they could choose ivf where the embryos are screened before implantation.

I am told there will be several c9 specific studies in the New Year and we are hoping for a new phase of the biogen study.

my neurologist has told me not to worry about the children in our family ( late teens) and is optimistic for my as yet asymptomatic cousins.

 

[Sandy14]

WOW! I just joined this forum and I have to say, reading all these positive comments about how long it takes some people to see a progression beyond bulbar has really inspired me with even more confidence. Thank you everyone for contributing here!