Possible ALS Waiting Game

[jpedrn]

Greetings, and thanks in advance for any insight or words of wisdom. To preface my comments I am a registered nurse who has specialized in critical care, and nephrology. My true calling is disaster response, and you could find me in remote areas of the world when major disaster strikes. I am 51, female, and have always been a tall, big boned strong woman capable of carrying heavy packs, lifting gear, basically able to not need help to get in and out of trouble zones. I go into disasters with a team of former military, and there is no room for weakness.

My last disaster was the Nepal earthquake. My team was dispatched to a remote area near where the US helicopter crashed. It was this trip where I noticed I was having a hard time carrying my packs, hiking, etc. I chalked it up to my age, and the altitude. When I came home in May of last year things didn't get any better. I play (or used to play) pickleball, which is a low impact court game that is a a combo of tennis, and ping pong. Even though it is played with a whiffle ball, I used to be able to have a mean fast and hard serve. Then I started having a hard time getting the ball over the net, forget about the power.

In August I stopped playing as my right arm and shoulder was weak. I thought maybe I had just over used it and gave it some time. A month later I my left arm started having the same symptoms. Then the fasciculations began. Mainly upper arm and shoulder then it moved into my neck and back. I decided it was time to get this all checked out.

I live in a rural area of California and our specialists are few and far between. I started with a series of X-rays. All negative. I had two NCS and one EMG which were both very abnormal, showing damage to both motor and sensory nerves. Severe carpal tunnel, ulnar neuropathy and no response to triceps and biceps. I went to a local Neurologist who wanted a brain MRI. My insurance had initially denied it, and after a month it was approved. My primary MD had also ordered a cervical spine MRI. The results were normal for the Brain, and abnormal for the cervical spine showing some mild disk bulges and nerve root compression.

By the time these results came, I was already having more pronounced weakness and fatiguability. My fasciculations kept increasing and I could look at my hand and see the muscle fibers tremor individually. I was given valium and bacofen for spasm, and neurontin, while the medications helped with the spasticity, the side effects of the combo made it nearly impossible for me to competently work. So I took a medical leave from work.

Over the next 12 weeks nothing happened other than the clock ticking and weakness progressing. I can walk, but with a stagger at times. The ground feels uneven under my feet, and I have slight foot drop. I traveled 4 hours to Sansum clinic and the Neurologist there started a battery of blood tests all of which have come back negative. I had to go back to work after the new year or lose my medical insurance. My local Neurologist has raised the possibility that this is ALS given the EMG,'s but they both wanted me to have carpal tunnel surgery and possible spine surgery and then see what was left. While this seems like a decent strategy, it will be fruitless if this is ALS.

10 days ago I had bilateral Carpal tunnel surgery. I was back to work two days later. I do quite a bit of patient education, which means talking quite a bit. I get short of breath, and tire so easily. The fasciculations in my shoulders and arms continue to be pronounced and I honestly feel I am just biding time prior to diagnosis. Next step is spinal surgery, but the neurosurgeon wants another MRI due to the poor quality of the one I had done locally. Another insurance denial, so more waiting for them to work it out. As much as I want to believe the surgery will cure my symptoms, my gut tells me otherwise.

I understand the "Rule out" process, it is just frustrating that months after symptom onset there is still no plan, no treatment, no answers other than chalking up items onto a list of what we know it isn't. I have had more blood tests including lyme, tropical diseases, myasthenia graves, and DNA testing for Marie Charcot Tooth disease. I know time will tell, but time is a luxury. If this the worst case scenario, I would leave work and take time enjoying each day as much as I could, and stop running myself ragged only to feel the symptoms worsen. At night I am awakened by the tremors and then if I stretch, the spasms. Everything feels like it weighs a ton. My 2.5 lb laptop feels like 10 pounds and it takes two hands to lift.

I fear by the time I have an actual diagnosis I will not be able to do what I want. or make plans. Being a nurse dealing with chronic conditions, I know the value of early diagnosis. My biggest frustration is the Limbo zone that I am now a proud member. So for now I have joined this site and hope to gain wisdom and share and empathize with others who are traveling in the same boat.

 

[lgelb]

Hi, RN, and thank you for your humanitarian service.

It is not usual to require surgery as a ruleout for ALS, though sometimes the dx is made soon after unsuccessful procedures after which more diagnostic tests are run. As a nurse, I am sure you appreciate the difference.

In equivocal cases, there are possible/probable/definite categories of diagnostic certainty that are applied by international guideline. At the "probable" level, a diagnosis code is generally provided to support benefits and such, which of course include Medicare coverage, which it sounds like you could use. What do your EMG notes say?

So I question the advice you have been given, noting that the Sansum clinic is not a specialty neuromuscular center, and urge you to seek a 2nd opinion at an ALSA or MDA-certified center before any spine surg. These are generally located at academic centers that accept a variety of health plans. UCSF Fresno looks closest to you.

Best,
Laurie

 

[jpedrn]

Thank you Laurie for your response. I was referred to UCSF Neurology (not the als clinic) , however they are considered out of network, and my insurance won't cover it. My local Neuro wants me to return in March for repeat EMG and to do lower extremities and to see if the carpal tunnel surgery made any improvement.

As far as the two nerve studies they have the following results:
#1 Sept 2015 NCS only. Motor conduction velocities are moderately delayed distal motor in the right median nerve. Motor conduction velocities are moderately decreased in the left median nerve and right ulnar nerve. Sensory nerve connection revealed no response in most sensory nerves in upper extremities. Clinical interpretation: Bilateral Carpal tunnel syndrome involving both motor and sensory. Entrapment neuropathy across both elbows. Severe defuse neuropathy of both upper extremity nerves showing mixed axenopathy and myllelinopathy pathology.
#2. NCS and needle emg. Motor nerve conduction studies showed decreased conduction velocity for all the nerves tested. Sensory nerve studies showed decreased velocity. F wave latencies are prolonged for all nerves tested. needle emg: Chronic denervation in any c6-c7 innervated muscles.

 

[lgelb]

There are provisions in any plan for out-of-network reimbursement for specialist care not available in network. Don't take no for an answer. Get your PCP and preferably neuro to write a letter of medical necessity; go up another level on the phone; send e-mail and a registered letter to the regional medical director. If none of that works, threaten the SF Chronicle headline: "Suspected ALS Patient Has Unnecessary Surgery; [network X] Says: 'Just Following Guidelines.'" Seriously. Facebook. Tweet. Post pictures. Get your friends & family to do the same.

You need to see a neuromuscular specialist, (and probably have another set of tests). Spine surgery is a big deal and you should always get a 2nd opinion on that as well, even if MND weren't on the table.

The notes you have aren't very robust but they certainly don't support rushing into surgery as part of a diagnostic plan, esp. as you report sx like SOB that are neither ulnar nerve nor C6/C7-related. Indeed, the suggestion of demyelination and axonopathy support that you may have a [treatable!] immune-mediated neuropathy.

UCSF should have insurance counselors that have experience in dealing with your network. The local/regional ALSA or MDA may also have some insight. I know also there are a lot of pt advocacy groups in Cali.

You cannot base decisions this important--potentially life-changing -- have you heard of failed spine surgery?--on a couple of phone clerks reading a rote script. Whether you have ALS, myelopathy or another motor neuropathy, you deserve an objective, authoritative diagnosis and treatment plan based on the best available evidence, and we both know you don't have that as yet.

 

[Nikki J]

Laurie is correct as I am sure you know. Part of the refusal could have been that you were not going to a neuromuscular specialist - a category not available in your network? But another general neurologist. And it is the neuromuscular specialist you need.

My sister had cervical spine surgery prior to diagnosis. She progressed quickly after that - I suspect it was a factor but who knows? It certainly did not help her one iota

You mentioned some tests but not pfts. Have you had them?

 

[KimT]

RN,
I would not take "NO" for an answer nor would I have any further surgeries until I saw a neuromuscular specialist. If you don't have one in your network, be your own advocate and go to a higher level at your insurance company and demand to be seen by a specialist. I would also call UCSF and talk to their insurance people. I'm guessing you work closely with doctors....perhaps one of them can help you by writing a letter to your insurance company. I would not give up and I would put a full court press on your insurance company.
You need a second opinion ASAP.