Diagnosed with motor neuron disorder, not sure what to do next

[mto4g]

Hi, I'm new here and not sure what to do. I am a 59F fALS. My mother passed away from ALS/FTD in 2017. Looking for any suggestions. Sorry... this is huge...

Here's the specs:

I've been very active in triathlons, climbing, Paddleboarding, marathon hiking, and have been a master swimmer for over 20 years.

DECEMBER 2022 - JULY 2023: noticed left leg randomly giving out while walking and going downhills. Decided to add more strength training to my regime. Was also swimming 2 miles in an hour workout, 3 days/week. When doing leg exercises, noticed that I had zero ability to extend my left leg. No pain, no tiredness... just completely unable to activate the quadriceps. Also noticed that both quads lost all definition and became "mushy"... and then got very skinny.

SEPTEMBER 2023 - NOVEMER 2023: Saw a NP (my PCP was on maternity) and she ordered physical therapy. Evaluation showed many areas of weakness and we were unable to activate quad. PT recommended neurological eval.

JANUARY 2024: Saw my PCP and she ordered neurology consult. However, other than the wonky leg that wouldn't move, I felt fine. No tingling, pain, etc. Walking has gotten slow, and I can't lift my feet or walk on heels. Also, can't get up from chairs without using arms.

MARCH 2024: Finally seen by neurologist. Had clinical weakness in both legs, 3+ reflexes, bilaterally. EMG showed active and chronic denervation in both gastrocnemius. Unable to elicit contraction of quads to complete. NCS normal.

APRIL 2024 - AUGUST 2024: Saw neurologist every 6 weeks and completed MRIs of brain, spine, and pelvis. All normal. Neurological and rheumatology blood serums normal with the exception of ANA of 1:640 and CK of 310. Walking very slow with foot slap.

SEPTEMBER 2024: Had open muscle biopsy performed of vastus lateralis. This was an abnormal study diagnosed with denervation and reinnervation, type II atrophy, as well as COX-negative fibers. My neurologist tentatively diagnosed MND, and referred me to a neuromuscular specialist at Vanderbilt.

OCTOBER 2024: Neuromuscular Specialist visit at MDA clinic. She repeated and ordered more bloodwork. All was normal except CK of 351, aldolase of 9.7, & ANA of 1:640. Showed clinical weakness in all Limbs, back, and mild dysarthria. 3+ reflexes throughout, +Hoffmann sign bilaterally, left crossed adductor reflex, +right Babinski sign, left plantar reflex equivocal, no jaw jerk, no glabellar. Wide-based stance and gait, right leg stiff.

NOVEMBER 2024: Repeated NCS/EMG of selected muscles of left side upper body, both sides of lower. My diagnosis is motor neuron disorder. Here are the results:

Findings:
Motor NCS of bilateral peroneal nerves were normal; however, bilateral F waves were absent.

Motor NCS of bilateral tibial nerves were robustly normal (compared to the peroneal nerves); F responses were normal.

Motor NCS of the left median and ulnar nerves were normal including F responses.

Sensory NCS of bilateral sural nerves were normal. Sensory NCS of the left median, ulnar, and radial nerves were normal.

Concentric needle EMG of selected muscles in the left lower extremity representing L2 to S1 myotomes showed mild ongoing denervation and enlarged polyphasic motor units with normal recruitment in gastrocnemius, incomplete activation of enlarged motor units in iliopsoas, moderate chronic reinnervation in tensor fasciae latae, and nascent motor units with normal recruitment in biceps femoris.

EMG of selected muscles in the right lower extremity representing L2-S1 myotomes showed mild ongoing denervation and mild chronic reinnervation in gastrocnemius, moderate-severe chronic reinnervation (1 motor unit potential) in vastus lateralis, and mild chronic reinnervation in the remainder of muscles studied (TA, biceps femoris, iliopsoas).

EMG of selected muscles in the left upper upper extremity representing C5 to T1 myotomes showed mild chronic reinnervation in APB and FCR, otherwise unremarkable including the C8 paraspinal muscles.
EMG of the left T6 paraspinal muscles showed mild ongoing denervation (fibrillations). EMG of the left genioglossus showed mild chronic reinnervation.

Impression:
Abnormal, complex study. There is electrophysiologic evidence for diffuse process involving motor neurons and/or their axons including bilateral lumbosacral roots, left C7-C8 roots, left T6 root, and left hypoglossal nerve.
Clinical correlation is indicated, with imaging and cerebrospinal fluid.

DECEMBER 2024: I have a lumbar puncture tomorrow to repeat the negative serum autoimmune and neoplastic tests on CSF; and a swallow study the first week of January.

I'm not sure what to do or what to focus on next. I'm still in shock this is even happening. I watched my mother go through this so quickly. She really only showed some weakness in her arms/hands. When I got her to a neurologist, her EMG showed only minor changes in her hands and they told me to bring her back in 6 months. By then she was in a wheelchair, and her EMG was clinically definate for ALS. Took her to ALS clinic to confirm and she died 3 months later.

Any advice would be appreciated.

 

[Nikki J]

First I am very sorry.

Second I see no mention of genetic testing. If this was not done get it done immediately. Call your neurologist. No wait for next appointment The odds are that is c9 given ages and ftd but it not impossible it is sod1 in which case you need to start qalsody asap. Do not believe ftd never happens in sod1. I know a sod1 a5v family who have relatives with autopsy confirmed ftd along with als. It is a long shot but one you can not afford not to take.

Thirdly take a couple of weeks to absorb this but then start planning, get your affairs in order and think about where you will live. And think about voice banking or cloning. Eleven labs and bridgingvoice have a free program for pals to clone

You are fals you have been down this road before. You know sadly how it goes though each pals is different. Especially if c9 even first degree repatives can have different courses. My sister died in 4 years. I am still here 10 1/2 plus years and counting

 

[mto4g]

Thank you for your reply. I did ask the specialist about doing genetic testing, but she wanted to complete the lumbar puncture first. I know my original neurologist mentioned doing genetic testing and wanted it done with the neuromuscular specialist. I'll have to see if they can order it. I didn't realize that it was important for treatment. My mom was pretty affected by the FTD beforehand, and they didn't do any testing besides the EMG. From her 1st relatively normal EMG, to her passing, was only 10 months. We didn't know anything about ALS or any other testing. She never lost her voice or swallowing, and was never completely paralyzed. She was in full nursing care the last 3 months though because she needed full care.

I guess I keep thinking that there's a mistake somewhere... like I was so sure my biopsy and EMG would be OK, and I just need to try harder. I hadn't even considered ALS until the last EMG because they had told me when she was diagnosed it was probably sporadic since we have no other family history. I really know absolutely nothing other than the googling I started doing.

I am worried about my voice and getting that banked. I don't have a computer and wondered if I should get an iPad since I see they have eyegaze tech and some type of voice ai.

I also looked into a power chair. I can do some short walking, but falling is a concern. I also need it to recline some, since I can't sit up straight. I'd like to be able to go on walks with my husband when he takes the dog out. I understand I'll need something heavy duty at some point, but want something cheap for now.

It's all over whelming, and I'm praying that since it's been slow so far, it will continue to be slow. My mom's really didn't progress quickly until she had a bad fall.

 

[Nikki J]

As I said sod1 is unlikely but not utterly impossible

I use an ipad exclusively and do have the ai on it. I am adding functions slowly. I don’t need the eyegaze but dictation mode is very handy and that is avsilable without ai. I did do personal voice It is ok not fabulous. You can also use their voices if you prefer. I think the eleven labs voice clone is very promising. I have heard a pals cloned voice that sounded incredibly natural

I am a little confused are you diagnosed or not? If not what is in the differential still?

Re power chair. Do not use your insurance benefit on anything other than a custom power wheelchair. If you want a scooter, manual chair or otc power chair buy or borrow. Team gleason has a program for pals to help them get a light power chair while waiting for their custom one. The als organizations often have loan closets. Also check the mda. Also check craigs list or ebay

I would start looking for where you will get a second neuromuscular opinion. Even if you are happy with clinic 1 and your current doctor everyone should have two but to be sure of the diagnosis but also to get another viewpoint on approach to the disease

 

[mto4g]

My only diagnosis from both my local neurologist and the neuromuscular specialist at the regional MDA/ALS clinic is motor neuron disorder at this point. Because of my positive ANA (I had lupus 20-40s before I went into remission at menopause and still have a positive ANA) they want to do the lumber puncture tomorrow to be sure the motor neuron damage isn't coming from an active autoimmune disorder attacking the spinal cord. All of my blood serums for this have been negative, but before giving a definate ALS diagnosis we want to be sure that the damage isn't from something else, therefore the lumber puncture. All other avenues have been explored, and this is the last test to be looked at. All areas (cranial, cervical, thoracic, & lumbosacral) are now positive for motor neuron disorder, back in March it was only evident in my lower limbs.

I'm just trying to wrap my head around this. It's just so scary/devastating.

 

[KimT]

Hi,
I'm sorry. It is very scary. After your last post, the positive ANA makes sense. Mine is always positive because I have Hashimoto's but I knew that before I was diagnosed. My neuro at Mayo ordered genetic testing when I was diagnosed, then again for more testing last year. The first time they only tested for C9, but this time they wanted to make certain I didn't have SOD1 because there is treatment for that variant. Mine turned out just sporatic.

I also use an iPad. I have it on a rotating stand by my lift chair and it has been great for my neck and back pain. I use voice to text.

I also have a small, portable power wheelchair. I paid around $3,000 for it but it has given me two years of daily use and I can ride it all around the common areas of my condo and even down to the pool.

After you figure out where you will live and your benefits/finances, two things I would not be without are a lift chair and a bidet toilet seat. For now, you might need a rollator to make sure you don't fall. My quads are still pretty strong but my ankles aren't. I took out all the thresholds when I remodeled so now I don't trip but I do have a rollator, a transport wheelchair, my portable lightweight wheelchair and my big PWC.

It's a lot. I had no idea I'd be progressing so slow. Had I known, I would have worked longer.

 

[mto4g]

Thank you. I have a lot to think about. The lift chair and bidet make a lot of sense. I had bought a lift chair for my mom back when she had it... I guess I should have kept it. It's encouraging to hear from people who have been slow progressors. I have only known my mother's case and we had less then 3 months after a confirmed diagnosis. It was a whirlwind and the neuromuscular specialist basically said, I'm sorry, she has ALS and needs to be put on hospice. We were clueless and just kept her comfortable. I will definitely try to get the ball rolling on genetic testing.

 

[Nikki J]

Your mom had been living with ftd and must have been older than you are now by a good bit. Both those things were poor prognostic signs but anyway paths can vary as I said before

 

[EJC]

Genetic testing can be free, drug companies want the (anonymized) data, so don't let cost fears stop you. (Mine is free via Boston Healey ALS Center).

 

[Nikki J]

Invitae has a program currently sponsored by biogen that can be ordered by providers if one is in the US.

EJC welcome. Can you clarify if you are the PALS or CALS. You speak as a pals but identify in your profile as CALS. Thank you

 

[mto4g]

Actually I've been diagnosed with ALS now that the lumbar puncture was clear of an inflammatory reason for the MND. My doctor did order the genetic Invitea ALS panel. I've sent in my saliva swab and should know in a couple of weeks. So, I'm not sure where I belong in this forum. My mom had ALS in her 70s, and now I've been diagnosed my a neurologist and a neuromuscular specialist. I will start being seen at the ALS clinic on a quarterly basis. I've already been for a swallow evaluation and have primary weakness oropharyngeal dysplasia. Getting started on EMST to help with breathlessness with speaking. Waiting on pulmonology and also PT for AFOs. I have an iPad and figured I would start voice banking on it? I don't have anything else to use. I did purchase a foldable power wheelchair to help on longer walks, but am still able to very SLOWLY wobble along in the house. I'm not sure what else to do. My husband is devastated and I keep thinking I'm just going to wake up from this bad dream.

 

[Nikki J]

Sorry to hear

Look into Eleven labs program sponsored by bridgingvoice dot org. Free for PALS They clone your voice and the ones I have heard are pretty great. You need at least 30 minutes of recorded voice. A couple of hours are better. Unlike personal voice it can be anything and they can even use prerecorded material if you have any

As someone else with FALS I identify here primarily as a PALS. I am technically a past CALS too ( sister and mother) but I very rarely participate in that part of the forum- only if I feel strongly that I can contribute and try to speak only from the CALS perspective as those subforums are meant for CALS to speak amongst themselves. Hope this helps

 

[mto4g]

Thank you so much, I'll look into that.

 

[EJC]

Clarifying, apols: I am cALS, wife 72 yo, officially "probable" pALS + definite bvFTD with severe anosognosia (so I do all the research/billing/appointment making); she is getting genetic tests. Rapid sx onset makes it clearer by the day that she has ALS.

 

[Nikki J]

Thanks EJC you are welcome here as a cals of course If your wife wishes and is able she is welcome to start her own account. We find it much less confusing so people can speak in their own voice

I am sorry for her diagnosis FTD/ ALS is a terrible combination for patient and family. My mother had it.

I am glad you are at MGH. I think both the FTD and ALS clinics have brilliant and kind people.