Laying in wait

[BlueandGold]

I've read many posts of PALS looking back after their diagnosis and realizing there were subtle changes to their bodies months if not years before they were given the diagnosis of ALS. I'm no exception. I noticed as far back as 2006 something was going on. I was a golfer and I noticed when trying to putt that my thumb and forefinger had a tremor if I gripped my putter too lightly. I noticed that I was having spasms in my trapezius muscles that would last for days and happen at least every 4 to six weeks.

It just makes me wonder if ALS is actually a very gradual disease that only get's aggressive in the final months. Just me wondering, but I think it's time for a revised diagnosis criteria. I think because this is considered "rare" and especially because it is fatal that the neurologists wait until your body is completely consumed by this hellish disease before diagnosing. Who knows what affect very early treatments that have no affect in the later stages may have had if tried very early on.

Maybe the mean survival with this disease is actually 10 to 15 years or more. I'm not sure what my quality of life would have been had I gotten a diagnosis years ago, but I do know I could have planned better and made memories that weren't laced with "ALS".

I'm just frustrated today.

Vince

 

[Nikki J]

They are working on this Vince. They are studying people from FALS families who have the gene but no symptoms. I have been part of these studies and they have data including blood and spinal fluid from before I had symptoms and then more since my first symptoms. They look at everything you can think of and collect tons of information. One of the things that is looking somewhat promising as a biomarker is spinal fluid. They also think there may be early clues in MRIs. All the doctors and researchers think earlier diagnosis will help. If you get an opportunity to do a biomarker study please consider it.

 

[BlueandGold]

Thanks Nikki. I have my first clinic visit on May 28th and I will bring that up.

 

[BlueandGold]

Nikki I also worry about 2 of my siblings. I have an older brother and sister who are having and have had for a long time muscle cramping and spasms. My sister is a dental assistant and attributes her spasms to the awkward position she is in all day working on patients but she goes to a massage therapist every two weeks. My brother, who works for an electric company is experiencing the cramps in his hands with his fingers locking like mine. He has also had to have his esophagus stretched due to food getting stuck. I'm sure I've just got a heightened awareness but it concerns me for the very reasons I stated in the beginning of this post. FALS has to start somewhere and with me being older, who knows if some of my relatives may have had this and were diagnosed with a stroke or other disorder because of the unfamiliarity of ALS 50 or 60 years ago. I also live in appalachia and I guarantee my relatives would never have had access to an "accredited" facility back then.

 

[Nikki J]

FALS is rare. But you could probably ask for gene testing. You could check with your insirance to see if it is covered with a diagnosis. It might be if your insurance does not have a blanket policy on gene testing. They can test for about 75 percent of genes. And my gene C9 orf72 is found in a certain percent of SALS and some neuros are testing their patients for it. You can argue that it is starting to matter as they are working on gene specific therapies. Also if you are of European descent and do have unrecognized FALS ( unlikely) c9 is the most common cause.
Another option that you could explore if you can travel to Boston is the alstdi precision medicine program. Look at their website for details. Part of what they do is gene sequencing and they also take a skin sample to use IPS technology to turn it into motor neurons and they said they would test various therapies against it and continue to do this as new things come up. It is very cool and exciting. I have an appointment coming up for this soon

 

[BlueandGold]

Thank you I'll look into that. Please keep me posted on your involvement with this study.

 

[anderkling]

Vince, the onset of the disease seems to be individual. I for one experienced a sudden onset of symptoms (weakness and fasciculations in my leg). Before that, no symptoms of anything amiss, and I'm in tune with my body. But it seems most have a gradual onset.
- Charlene

 

[Jeanau]

Now as I look back, I can remember signs of something amiss as long as three years ago. I'm glad I didn't know what was coming, as it would have hung a black cloud over my every day life. But, I will admit that I'm blessed that I was able to retire early and enjoy many winters in Florida. Many of you were not as fortunate.

Charlene, I know that you for one was working until very recently. I am also fortunate that my two sons are grown men. It is all so sad...but so much sadder for some than others. God bless us all!

 

[ElleT]

Vince, I completely agree. I think this disease is likely going on for years before we have significant symptoms and can be diagnosed. Until there is a biomarker found I don't think much can change in the diagnostic procedure.

I am living in that grey area right now, too early to be diagnosed but knowing that likely the disease process has started. I am from a familial ALS family and carry the c9orf72 gene. I have had what I believe are early symptoms for almost 2 years but without a biomarker it is impossible to know for sure. My Neuro also suspects that things could be starting and offered me Riluzole almost a year ago. I am so grateful to have the opportunity to start it early as I think (hope) that is when it might really make a difference.

 

[BlueandGold]

So sorry ElleT. If it is, I hope the riluzole stops it in it's tracks! I believe Nikki has seen a halt in her progression since taking it and she is FALS.

Vince

 

[Nikki J]

Vince I just found out that the alstdi test does not include c9 but that does not mean it is not worth doing

 

[gooseberry]

Vincemy pals also had difficulty gripping a golf club. It start 6-7 yrs before he was diagnosed. He had several odd metabolic things happen. I agree that this disease goes on for much longer than we know.

 

[Nikki J]

I am going to put you all in charge of dealing with the DIHALS who are going to be quoting you! :twisted:
For me it was 7 weeks from first symptom to an abnormal EMG and believe me I would have noticed symptoms before being gene- positive FALS!

 

[BlueandGold]

Sorry Nikki. Don't mean to make your job harder than it already is But I'm always happy to talk to the DIHALSers. Maybe I'm the exception to the rule but Cleveland didn't diagnose me and sent me on my way with a diagnosis of a bad neck and anxiety. Didn't even suggest a follow-up. Those with true health anxiety issues are going to think they have ALS no matter what anyone on this board tells them. However, there are those who start out on DIHALS and end up joining. Those are the one's that truly need help.

 

[Nikki J]

I agree that there are people with valid concerns on DIHALS although they are somewhat rare fortunately ( or unfortunately depending on how you look at it) too many anxiety driven for sure. It is also true about the anxiety people being here anyway but they do quote any outliers' stories here and elsewhere. Do you know you are currently under discussion on at least one anxiety forum?
My remark was somewhat tongue in cheek though.