Delays in Diagnosis -- What's Proper Follow-Up

[rockyfields]

I understand obtaining a definitve diagnosis is often difficult, but I am beginning to question whether the time between appointments with my neurologist are standard and and acceptable practices acceptable for diagnosing this condition.

I fierst started noticing increased difficulty with walking during the Summer 2013 (my age 63). It began accelerating enough near the end of the year that I started my first rounds of testing...vascular ultrasound, cranial and spinal MRIs, nerve tests, muscle biopsies, etc. I appeared in pretty good health as all tests looked good.

I was referred to a local, highly-respecte3d research hospital, and was screened June 2014 and forwarded to the neurology center. My first appointment there was September where the Dr ordered re-runing many of my tests. I saw the Dr next in December, more tests were ordered, as before none revealed any signs. My next appointment is in June...in one year I will have seen this Dr three times.

During this time, the muscles in both legs have continued to tighten whenever I put weight on them. and now they are noticeably weaker. My walking has become increasingly difficult to the point of needing a wheelchair. I discovered I lost a great amount of a sense I did not know I have...propioception. My right leg has slightly shrunk, and my hand and arms seem to be losing strength and dexterity.

I caalled the Dr two months ago to reuest he order any additional tests or procedures he may need so I can get them done and he will have results for the June appointment. No reply.

I am ready to drop this hospital and get referred to another, a "gold star" rated one but that would entail enem more delays. So I have two questions:

Are 3 to 6 month delays between appointments normal? This is not the VA, world-known facility, and...

Are Drs reluctant to give even a "possible" diagnosis of ALS until they find definitive proof...the location of the attack on my nervous system and how it is being attacked?

Thank you.

 

[GregK]

Many people take years to be diagnosed but your appointments do seem a bit drawn out. More folks will weigh in on this.

There is no such thing as "definite proof" of als, it's a diagnosis of exclusion: rule out everything else possible and what's left is als.

An EMG is probably the most useful (and least pleasant) test. If there is suspicion of als, this one is needed.

If you elect to see a different Dr, be SURE to get copies of all the work done so far.

Finally, be sure to read the sticky at the top of this forum.

 

[Nikki J]

I am told 6 months is fairly standard between EMGs for undiagnosed. 3 months is the standard interval for follow up at my clinic sometimes 6 months. However not returning a message is not standard. And seeking another doctor is appropriate if you are ignored or indeed unsatisfied in any way. Or if you need a second opinion

Yes doctors are not going to give a diagnosis of ALS without both clinical exam findings and EMG findings specific to ALS plus ruling out other causes. We have discussed possible ALS before it is actually a specific diagnosis that is essentially early ALS not maybe ALS as you would think. Look up El Escorial criteria for specifics on this
Good luck in your search for answers

 

[Atsugi]

The highest rated specialists have the most crowded calendar. So we found a local neuro who did the whole diagnostic regimen within a month, from start to finish. Maybe you should call around.

When I spoke to medical schedulers, I never said "I need an appointment...." Instead, I engaged the scheduler in conversation. "I hope you can help me. You see, my doctors are investigating a terminal disease. My wife may not have long to live. Do you think you can find an opening ASAP?" Most of the time, we got in pretty quick.

 

[ECpara]

My husband was referred to an ALS specialist in December (2011) and given an appointment for April (2012). He had a bad cold at the time and was having terrible trouble coughing and breathing. He was persistent in getting an earlier appointment, he would call them constantly and tell them he was going to die! He really thought he was! He got an appointment first week in February, and a firm diagnosis :-(

 

[Green Queen]

Hello rockyfields. I'm in Australia, so things are probably totally different here, but I tend to think 'six months' is the only timeframe doctors are aware of.
After nearly 18 months, 6 doctors and countless tests, I think we are nearly at a diagnosis. We've done the disease merry go round, and to be honest, hearing they 'think' it's MS only to be told they were wrong (this happened with 4 different diseases) was extremely traumatic. Not only for me, but my husband, kids and parents.
I am into month two of my current doctors six months, back to Sydney in September. We live in hope of a diagnosis this time.
You are in my prayers that the stress of not knowing doesn't become worse once you do know.
God bless, Janelle x

 

[Dusty7]

Like Mike, my progress with a local neuro was fairly speedy. My first appt was the day before the 4th of July. He did the clinical exam and scheduled an EMG for the next business day. He told me he suspected ALS, but we had a long way to go. Blood tests were done next and on August 2, he told me it was PMA (at the LMN end of the ALS spectrum). I got into Mayo (Jax) before the end of the month for a second opinion and a second EMG, with a third EMG at the beginning of October.

So, I think there is no standard timing. My local neuro was very quick, but so was my getting into Mayo.

And, as we have talked about before, some neuros will put ALS on the table right away, while others won't discuss it until you meet the El Escorial criteria.

If you are not happy with the speed at which your doctors are moving, changing doctors is an option, but there are times when you have to wait for the disease to reveal itself more fully. As people with PLS have to wait years for a true diagnosis. And people with PMA also wait years to see if UMN signs develop. While waiting is difficult, remember there is nothing that can be done once you have your diagnosis (so long as they have ruled out all treatable diseases, like MMN).

 

[veggiepete]

Why the hurry in diagnosis... Als is as much a diagnosis of progression and is as important as the emg... The longer it takes is a plus..

 

[lgelb]

Rocky, are you actually in a wheelchair? Sounds time to pick up the diagnostic pace a bit.

I'd go elsewhere. Whatever you have, it's something to know you have. It's also still possible that it could be treatable or self-limiting. You mentioned propioception, not usually a casualty in and of itself in ALS or other MNDs, but definitely lost in some other neuromuscular disorders.

Mike is right --make a connection with someone, a friend of a friend, a scheduler, a medical assistant, nurse, service chief, director, patient advocate, someone...you deserve a better answer than what you have, and I find it difficult to believe that your tests have all been "normal," if they were the right tests. I think someone at the not-ready-for-primetime-clinic has some wonky algorithms going.

And in answer to your question, though others have read this before, you always, absolutely have the right to know what differentials are under consideration, and the tests/signs/timeline for ruling each of them out. You should understand that before leaving the treatment room.

 

[affected]

When we were 'in limbo' as we called it we thought it was hard. Yet we were living life to the full and just waiting for another new appointment the next month or in a couple more months that we thought would solve things. That would come and doctors were clueless and we went in circles.

Once we had the diagnosis we realised that limbo had been a wonderful place as we worried, but we had lots of hope amidst fears and we lived and planned and loved life.
Once we had the diagnosis everything changed forever.

If your doctors don't think you need immediate attention rejoice and go live. If it's ALS it will reveal itself and you will wish you had back the time before you knew it.

 

[lgelb]

Tillie, I'd be with you if ALS was the only presumed and just not "all criteria met for definitive labeling yet" disease -- in other words, all else eliminated in the differential. But this doesn't sound much like that. All normal tests, including EDX/NCS, and he's in a wheelchair? Only slight atrophy with that extent of weakness? Two years of progression and no other differentials? Maybe it's really ALS and the clinic is weak, maybe it's something else. Either way, I'd head down the road.