[Bill]

Andy’s site is a great resource. Really comprehensive. One site that is a daily go to for me is PatientsLikeMe. There are lots of pALS on there daily. People ask questions and get answers from fellow pALS. They express fears, daily struggles and successes. Lots of pALS evaluations of drugs and supplements. I’ve met so many people there who share their daily lives. I find it helpful to interface with other pALS.

[Bill]

I do not take Riluzole. I’ve read so many so so reviews. My Neurologist (head of a university ALS clinic) advised me that it would likely not do much for me. He has not been impressed with results. I am admittedly a slow progression without the drug.
I think it sad that we as pALS need to rely on anecdotal opinions on important decisions like this. Thousands of pALS have taken or not taken Riluzole and we have no scientific collection of data to know if it is helping. I’d sure love to see a thousand ALSFRS tracks for Riluzole users vs non users. As new treatments hopefully come on line, I would sure would like to know where to spend limited resources.

[Bill]

I was not asked about environmental factors when diagnosed in 2017/18.  Related to a later study I was in with UofMiami, I completed a detailed lifetime survey about hobbies, everywhere I lived, occupations and such which very much dealt with environmental factors. I was in preFals and CReATe ALS there so it was related to one or both of those.
I have been exposed to no glaring risk factors, just probable hereditary cause.

[Bill]

First time I saw this and at first blush I don’t think it is an improvement. Problem I saw is interpretation of “with difficulty “ same subjectivity as ALSFRS. A little difficulty? Major difficulty? Big difference between those answers. There is also age that affects some things with or with ALS. With my age (70) , I find it harder to get up from floor as example. Is it my age, general fitness, arthritis or ALS. Subjective.
My biggest concern is the not the scale but lack of central collection and analysis of progression. I think that lack of collection is a mindset that since there is no cure what is to be gained. I sure would like to  see relative progression of pALS with and without Radicava or Riluzole for example to help with serious decisions.

[Bill]

I did stop “working out” when I was diagnosed. Frankly the warnings from the PTs seemed to discourage. I got rid of my heavy  weights and switched to much lighter band work routines focusing on big movements and flexibility. A little more strength focus on nonALS muscles. I’ve gotten little advice but what I do I think works for me.

[Bill]

Let’s not forget that in other than familial ALS science has not  clearly identified a cause. That’s where stats do come into play. Obviously from some data, there is exposure to brain trauma which increases the risk of developing ALS. Whether it’s the cause or makes people more susceptible to the cause I don’t know.
I have never had head trauma but do have a yet to be discovered inherited mutation with 2 family deaths. We have a long way to go.

[Bill]

Jean

look up pre-fALS study at clinicaltrials.gov. I’m in that study as well as family. Try contacting one of the sites. Not sure if you’d qualify since you don’t have ALS but you could contact them anyway. They are doing familial ALS research.

 

Bill

[Bill]

If not 2020 I believe still not too far off. I too have read of the 45. I’m not so impressed with trying to discover what they did. Statistically many of the thousands who have died also did what these few did.  I am interested in their genetic study to see what is different about them. Who knows it may lead to understand how some bodies “beat” ALS. I’m in a genetic study and I am very slow.  Some pALS hear the 2-5 years diagnosis. I was told 2 years ago at diagnosis by my university ALS neurologist that I could be “decades”. I hope that turns out to be true. With my age, I’m pretty sure I wouldn’t live that long anyway.  I am hopeful treatments will slow me even further eventually. Maybe preserve my quality of life. I participate in trials and studies and do what I can to help the research.

[Bill]

This particular forum thread is about “Was your initial diagnosis correct?” . What we theorize the cause of our ALS is an entirely different subject. Mine is likely genetic but funny that’s not a thing I was asked by the first Doctor who looked for diagnosis. It’s my fault maybe as I didn’t realize my dead’s death with FTD was also with mnd. Also my brother who has since died was wrongly thinking Parkinson’s when it ended up MSA another deadly mnd. That background might have helped with my initial diagnosis, not that it would have mattered.
Part of the preFals that I am in will maybe (if they finally find my  mutation) help my kids. In the future, early and correct diagnosis might be key to fighting this.

[Bill]

Amanda   In my case my cervical spine stenosis could have indeed have caused my initial issue. To the credit of the neurosurgeon they recognized that it was not the cause. I think with my very slow progression that the neurologist and neurosurgeon just did not expect ALS. With the fact that we have no cure I can understand reluctance for a diagnosis vs waiting to see how symptoms play out. It’s just very tough on us to have unknown future. We do need better early biomarkers which are more unique to ALS. I was involved with one study to that end.

[Bill]

I’m in my second drug trial. I am also in a genetic marker study preFals. I was in a long term study for biomarkers which ended. I am currently still in the long term survey study with ALSTDI. I would volunteer for more drug studies but some of the newer ones require pALS with less than 18 months of symptoms. Others conflict with my current drug study.
In short, I volunteer for all I can, not for direct benefit to me but to help the research. If we don’t volunteer there would be no trials.  I did volunteer for the familial genetic study to try to find what mutation is in my family. It’s not the common one as it has created 3 different potentially fatal MND’s in my family. My kids would want to know their risk.  It’s a challenge to the researchers so far but still looking.

[Bill]

I also am in preFals at Uof Miami. I have family history of three different FTD related MND’s.  MSA, FTD with MND and my ALS. So far they have not discovered the genetic mutation involved with our family. The common mutations are not there in my dna. My full DNA results are due back at any time. I am anxious to find the results.

 

 

[Bill]

As others have said our progression can be extremely different. Absolutely enjoy life as much as you can while you can. Find a good specific ALS clinic to go to regularly. Find your local ALS association. I’m lucky there are good ones locally. For myself, I did try local support group but found it very small and infrequent (monthly).  Personally I’ve found that being active on the paitentslikeme site was and is helpful. I can interact and hear the daily experiences of many pALS. I can see what they try and what what they feel works good and bad.  I see all range of progressions. It can be scary but having your eyes open is helpful.

[Bill]

I visited an orthopedist for arthritis in my thumbs. After X-rays, he confirmed the arthritis but told me the wasting of hand muscle at my thumb was not due to arthritis. He ordered am MRI and told my issue was likely the cervical stenosis in my spine and referred me to a neurosurgeon. After two sets of nerve studies and another MRI, I was told by the neurosurgeon that the spinal stenosis was not the cause, nor was cancer and not likely ALS. His recommendation was to wait and see. He even said not to bother seeing a neurologist as they couldn’t tell me anything different. Not accepting that, he said to try University of Florida. Since the wait was a year, I declined that. I saw a local neurologist on my own who saw me, ran no new studies and said he didn’t know and to come back in 3 months. After a second visit and same no real ideas, I insisted on a referral. After another 7 month wait, I finally got into USF neurologist who referred me to the head of the USF Morsani ALS clinic. There new nerve studies led to ALS diagnosis two years ago. It took about 15 months to get the diagnosis. I am limb onset slow progression. I’ve likely had disease for 5 years or more.

[Bill]

They all excite me! We just need to push forward aggressively to rapidly test and approve the stuff that helps. I am frankly frightened that some will prove to be prohibitively expensive.

[Bill]

I do not expect any politician will make any mention of helping rare diseases in their platform. Frankly not enough voters. On the other hand, I stronger than ever will support candidates who support expanding health care to all citizens. I’ve talked to Canadian pALS who do not need to worry about the cost of treatments in deciding whether to take expensive treatment like Radicava. Other new drugs will surely be just as expensive or more so. Our current US president and senate are very much against universal health care for US citizens. We need to vote for people who care more about compassion that serving ones personal interest.

[Bill]

Pretty obvious to all of us with ALS. Groundbreaking? I’m all for our voices to be heard though. I’m surprised that there wasn’t a high concern noted at the extremely slow pace of trials and disjointed treatment development process.

[Bill]

For me diagnosis was about 14 months. Local neurologist and neurosurgeon said they didn’t know. The neurologist wanted a wait see await approach coming back every 3 months. He said it did not look like ALS. My insistence on getting to a university MND specialist eventually led to diagnosis but the wait for appointment at medical school was 7 months. My feeling was local neurologist frankly didn’t care to test and research. My nerve conduction studies and MRIs were done through a neurosurgeon before I went to local neurologist as first thought was a cervical spine problem.

For anyone looking for diagnosis, get to a MND center of expertise as soon as possible. Local Drs just don’t see enough MND.

[Bill]

Myself I’ve had no traumatic brain injuries and am diagnosed with ALS. My father had a knock out cold head impact not too long before he started symptoms of FTD which progressed until he died. My brother died of MSA and did have an accident with bad concussion when he was younger. Sure could be coincidence.