Looking back

[Jannie_M]

Question for those of you who have been diagnosed with ALS.

Looking back, do you see early symptoms that you may have overlooked, or brushed off as something else?

How many other diseases were they "confident" you had prior to your ALS diagnosis?


I have seen 2 neurologists already. The first one ruled out Myasthenia Gravis and MS, the second neurologist was scheduled as a "2nd opinion" and when he couldn't rule out or confirm Mitochondrial Myopathy; he told me I needed to go someplace else.

I am still in the diagnosis process, at my most recent GP appointment he stated that my husband and I need to start preparing ourselves for a disease that has no treatment.
He specifically said "ALS or some other disease so rare that only Johns Hopkins will find it" I have an appointment with them in September.

My GP is the only Dr I have ever seen who I felt has been genuinely concerned for my health and well being. But, Don't you think one of the 2 neuros would have diagnosed ALS by now?


Thanks for your replies
Janet

 

[kmendsley]

Question for those of you who have been diagnosed with ALS.

Definately. Who would want such a thing to be diagnosed with ALS. It is human nature to ignore the symptoms until you are no longer able to do so.


Way too many. Even though I have been diagnosed by 2 doctors as having ALS. My medical group won't accept it till I get someone from 'Their' group to do so. So I am still being diagnosed by untrained neuros and dr.s as being simply too young and diagnosis left and right of all sorts of things...it has been a roller coaster to say the least.

Common...consider yourself lucky that the dr. sent you on when they knew they couldn't diagnose. It is quite unpleasant when they won't give you a diagnosis, just 'wait and see' and won't send you on because of pride or other ridiculous reason.


Very sorry. John Hopkins is a great place. Hope you find your answer there.


Also common for your GP the only one who truly cared. They are your GP for life and know you through it all. Speciality dr. usually only see patients 1-2 times in their lifetime so they don't focus on 'caring' but more on 'quick diagnosis'. And no, just because someone is a neuro doesn't mean they are specialized in that area that you need. You can only hope that they will send you on when your diagnosis becomes out of their reach.

Good luck to you! I hope your appointments go well.

 

[olly]

hi jannie,welcome to the forum.

i have pls/mnd ,the first symptoms for me was balance and dropping things.
when these symptoms started i just brushed them off as nothing but was told later on that others had noticed and knew something was not right...........even when i developed footdrop and clinical weakness in my left lower leg dragging it i thought it was something or nothing and would recover.........ignorance is bliss.
i was repeatedly tested for ms for a few years then cerebellum/multi system atrophy plus genetic testing till they came up with pls/umn disease.
however i do wonder about mitochondrial disease which can be picked up on sometimes genetic testing or muscle biopsy.........never had a muscle biopsy.
mitochondrial dysfunction is linked to many neurological deseases including mnd's.
hopefully you will get more answers at your next appointment..........and more careing neuro's.
take care,caroline.

 

[trfogey]

Looking back, do you see early symptoms that you may have overlooked, or brushed off as something else?

Everybody who has been diagnosed with ALS tries to do this. Very few succeed with any degree of accuracy. It's like a fisherman's story -- noticed earlier with each retelling and the fish keeps getting bigger.

How many other diseases were they "confident" you had prior to your ALS diagnosis?

One. My GP was absolutely convinced I had carpal tunnel syndrome and sent me for an EMG/NCV study to confirm. The EMG wasn't clean -- LMN problems detected in three regions of the spine. NCV was fine.

My GP is the only Dr I have ever seen who I felt has been genuinely concerned for my health and well being. But, Don't you think one of the 2 neuros would have diagnosed ALS by now?

ALS is a diagnosis of exclusion -- the neuros track down and eliminate all other possible causes of your symptoms before they make the ALS call. Not to mention the fact that they also need to observe progression to fit the final pieces of the puzzle.

If I were you, I'd ask that GP you're so fond of to lay out the specific reasons why he thinks an ALS diagnosis is potentially on the table. The only things that you've told us here about your current state is a single symptom (ptosis, which is not a typical presentation symptom of ALS, as your neuro said) and that you've had a bunch of tests that were "inconclusive" for one disease or another. Without more detail about you, how you are doing, and what those tests actually said (rather than the "conclusions" that the doctors made from those results), there is no way we have enough information to tell you who might be blowing smoke here.

Good luck.

 

[Jannie_M]

I has a muscle biopsy at Hershey, it was considered "inconclusive" because there was signs of pathological changes, but nothing that pointed to anything specific.

 

[Polar]

Dare I say?.. It's all about Pharm making money.. I just don't understand how anyone could be spending $400+ a month for Riluzole that "May add a month to your life" In reality your more likely to suffer liver failure in using this drug.. Back on topic. I'm thinking a muscle biopsy should be the first test done.. Or to check for the mutated gene that is present in all ALS sufferers.. It cost Thousands of dollars to be diagnosed with ALS .. There has to be an easier way.. Looking for the cure to ALS makes too much money for too many people (just like Cancer) to be cured..

 

[Jannie_M]

My symptoms started with muscle weakness, fatigue, exercise intolerance, occasional falls, and carpal tunnel like symptoms. Since seeing the first neurologist they have progressed to swallowing problems, muscle twitching, incontinence, and loss of muscle control in my right foot/leg causing me to need a walker if I go outside. I had to leave my job in October of 2010 and lost my drivers license shortly thereafter.

 

[trfogey]

Don't mean to sound combative, but a list of vague symptoms occurring all over the body doesn't add much to clarify the picture.

What was the first symptom that you brought to your doctor's attention, how long ago did it start, and how has it changed since it started?

 

[hopingforcure]

I do know that Hershey makes a lot of Dx. he see's several if not Many of the patients past and present on the forum. If he did not Dx you with ALS. Well I would take that as very very encouraging. The doctor you saw at Hershey is a ALS specialist, and is very familar with many als cases. He is the ALS doctor...

 

[KissJ]

My husband has ALS and doesn't come on here. But, I will tell you his first symptom was hand cramping, then drop foot, and then his hand lost strength. We thought the cramping was something like what my 76 year old mother has been putting up with for years and nothing much to worry about, the dropping foot we thought was due to his hip replacement, and the strength in his hand we thought was carpal tunnel that he has issues with in 2006 but resolved after completing a fencing project around our pool.
However, you just never know with ALS, everyone is so different. Sometimes I wonder if my husband has the correct diagnosis. ? It is awful.

 

[Jannie_M]

I don't think you are being combative, just cautious. I have been lurking for a couple of months and notice the large number of people who say "My Dr says it isn't ALS but..." or "I had clean EMGs but..."
In my attempt to NOT be one of them, I guess I am being too vague.
I am very Sorry, and please know I am NOT here to waste ANYONE'S time!

It was muscle weakness and ptosis that got me sent to the neurologist in Dec 2009. The weakness in my arms started with having trouble picking up my dog,(13 lb miniature dauschound), progressed to not being able to open a jar, then two fender benders within a months time in Sept 2010, where I couldn't properly correct the steering wheel and bumped into things, which caused me to lose my drivers license. (I was also having problems with my foot/leg when at a stop light or in a drive thru that I had never mentioned to my GP)
Now I have distinct foot drop and muscle twitches that can be seen and felt through the skin.
I *did* ask my GP why he would think ALS, when that had NEVER been mentioned to me (I was shocked it could even be possible)
his concerns were that the muscle spasms started a few months after I had started at Hershey, the neuro noted it but never did a follow up EMG.. plus, the neuro here had noted some kind of manual reflex test he did on my right side that would indicate "an issue", and the doc in Hershey never made mention of it.

 

[HelenL]

Janet, never feel that you are wasting anyone's time with a question... ask anything, listen to the responses, and learn from them. We all have gone through it, and some of the folks here are very knowledgeable – because they're living it as well, something the neuro isn't. Everyone is different, but we're all here for the same reasons.

I never even considered that I had ALS until the first neuro sent me for a somewhat inconclusive emg, and then told me that I had it. I didn't believe it at all, how could my weak left ankle and painful back be anything more than the bother they'd been for years? So I went to Beth Israel in Boston to the ALS specialist, who ran a whole battery of tests, and still couldn't rule it out... multiple MRIs, a spinal, xray my left foot (I wanted that) and back (per the spine specialist), the Western Blot Lyme test, and of course, the wonderful EMGs. It is what it is, and I choose to say that I'm living with ALS, rather than dying from it... I feel perfectly fine most of the time until I get up out of my chair, and then think "OH CRAP!"

Turns out my tripping on my left foot had turned into foot drop and I didn't realize it at the time, along with my hyper reflexes in my left leg... bad balance galore!

 

[trfogey]

Thanks, Jannie_M. Rather than make a snap judgment on limited information, I'd rather ask questions and get the answers in plain sight so that there's no confusion about things.

As I understand what you've said, your earliest symptoms were weakness in your arms and possibly your ankles/calves, followed by the ptosis. In your legs, it appears clear that the weakness started at the end and works back toward the trunk (reduced stamina causing difficulty holding the brake pedal down). Is that correct? Was it similar in your arms -- hands first, progressing to the arms. -- or the other way round?

As you have realized by now, anyone presenting with ptosis and diffuse muscle weakness is going to be viewed as probably having myasthenia gravis in one of its different forms or a related disorder such as myasthenic syndrome. Obviously, further testing hasn't yet confirmed that conclusion, so your neuros have been forced into "wait and watch" mode. Of course, this is very frustrating for you and makes you wonder if these guys have a clue about what they are doing.

My advice to you is to hang in there and try to give the folks at Hopkins a little elbow room and time to work. They aren't responsible for what your other doctors have done or said or how long you've already been waiting. Obviously, your case isn't clearcut, so it may be a while before you get an answer.

Good luck.

 

[olly]

i understand and know jannie that neuro's dont tell you much when doing a clinical exam,my gp told me they had found clinical weakness in my leg and it was a registrar at the neuro rehab clinic who said they had found hypotonia.
i was very nieve back then and wish i had this forum,learn't alot here and i am better prepared for appointments.

 

[Lobster]

Dare I say?.. It's all about Pharm making money.. I just don't understand how anyone could be spending $400+ a month for Riluzole that "May add a month to your life" In reality your more likely to suffer liver failure in using this drug..

Liver failure? Are you having your enzymes tested regularly? Do people really die from liver failure?