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    • #11091
      Amanda
      Keymaster

      It took my cousin over a year to get an accurate diagnosis of ALS. What was the process like and how long did it take to get an accurate diagnosis?

    • #11394
      Diana Belland
      Participant

      Amanda,

      Thank you for asking this question.  My path to an accurate diagnosis took about 14 months.

      In October 2017, I began to notice that during my daily walks on a paved walking trail my right toe box seemed to be hitting the ground with a very slight flop.  I thought it might be the running shoes I was wearing so I didn’t think too much of it.   But in late December 2017, I tried to stand on tiptoe to reach something and I could not go up on tiptoe on my right foot at all.   This scared me so, of course, I immediately looked up my symptoms on the internet and found that weakness in one limb can be an early sign of ALS.

      I had had arthroscopic surgery for a torn meniscus in 2014 and my knee surgeon had told me at the time that I would need a full knee replacement in one to ten years.  Hoping that my foot weakness was a sign of my knee giving out, I got an appointment with my knee surgeon.  He diagnosed the problem as a radiculopathy of the L5S1 nerve.   “So it’s not ALS?”  I asked.  “No!” He said firmly.     He referred me to a spine surgeon, and I had an MRI of the lumbar spine which clearly showed a compressed L5S1 nerve.  I had spinal fusion surgery and a laminectomy at the end of March 2018.

      A few days later, I noticed what seemed to be a cavity forming in my right hand between my thumb and index finger.  I showed it to the spine surgeon’s PA at my four week check up.  She told me not to worry about it and that my surgeon could look at it at the eight week check up.   The surgeon acknowledged that there was muscle atrophy but didn’t think I needed to see a neurologist.   Finally, I scheduled an EMG myself in June, 2018.   The physiatrist who administered the EMG acknowledged that the findings could be consistent with MND but felt strongly that my muscle atrophy was due to carpal tunnel and Ulnar nerve compression.

      I then saw a highly regarded hand surgeon who studied the EMG and my C-spine MRI from February 2018 and X-rays of my hands.  He diagnosed carpal tunnel compression in both wrists and Ulnar nerve compression in the right elbow.  I had surgery on my right arm on August 7, 2018 and on my left wrist on October 22, 2018.

      Meanwhile, I continued to go to PT regularly twice a week, but my right leg foot drop did not improve.  My lumbar spine muscle strength improved steadily but was still far from pre-surgery strength.  My physical therapists continued to assure me that I was making very good progress.  When I told them about my lingering fear that I might have ALS, they dismissed it.    When I met with my hand surgeon for a consult in January, and expressed concerns about loss of fine motor control, he suggested that there could be involvement at the cervical spine level but otherwise assured me that things were going “as expected.”

      My daughter, Laura, a physician, had been urging me to see a neurologist for months so finally after a consult with my spine surgeon on Jan. 29, 2019, who found weakness in my left foot but no signs of nerve compression, I made an appointment with a neurologist in my city and also one with  a neuromuscular specialist at the Cleveland Clinic.   The local neurologist examined me, ordered blood work, a C-spine MRI and an EMG.  He told me that I did not have an MND even though the EMG he had ordered for me showed “significantly abnormal”  results.  He believed that the severe spinal stenosis in my cervical spine was causing nerve compression with resulting weakness in my left foot.

      Finally, approximately 18 months after I first noticed a change in my right foot, I was thoroughly examined and all of my tests results evaluated by Drs. Steven Shook and Erik Pioro at the Cleveland Clinic.  Their joint diagnosis: ALS.

      I’ve wondered, of course, why none of the very fine and highly rated medical professionals and physical therapists I saw for over a year ever suspected ALS and since my diagnosis, I’ve wondered whether or not I really needed to have the carpal tunnel and Ulnar nerve surgeries.  The spine surgery was probably indicated because I do have a lot of age related arthritis in my spine.   I imagine that it’s not uncommon for several conditions to be present along with ALS.

      I would be interested to hear from others who may have had perhaps unnecessary surgeries for conditions that may really have had ALS as the underlying cause.

      Thank you for reading my long story!

      • #11397
        Amanda
        Keymaster

        Diana,

        Your post interest me. I’ve had many family members with ALS. My Aunt Norma, had surgery on her hand and within a year she was diagnosed with ALS. My other Aunt had surgery on her foot and shortly after was diagnosed with ALS. My father shared his theory – that he believed both of their cases were “brought on” by the trauma. My father also had ALS, although no trauma prior to the onset. I don’t know all the details to either case, just the information that was shared with me by my dad. After reading through your post and Glen’s post, it does raise my curiosity regarding the possible connection. It will be interesting to see if other members have similar cases.

    • #11395
      Glen North
      Participant

      I was using drill when I had a bad accident, tearing the palm of my right hand, that happened four years ago (2015).  Since the accident I continued to lose strength in my right arm.  I went to my GP and complained about the loss of strength, he said it was due to the accident and to give it time.  I gave it more than a year and went back to my doctor and told him I am getting weaker, again he said not to worry.  Finally, almost 3 years after the accident and still losing strength I demanded to see a neurologist.  After just looking at my symptoms for less than an hour she said it looks like a MND (Jan, 2018).  I went to see another neurologist the following week and she did an EMG, and muscle conduction tests and confirmed ALS.  I have since seen two other neurologist who have both confirmed the ALS diagnosis.

      I’m sure I would have been diagnosed much earlier if I hadn’t had the accident to complicate the matter.  There is also some thinking that the accident may have triggered the ALS, since it began at the same time.

      • #13609
        Amanda
        Keymaster

        @Glenn, did your doctor conduct genetic testing? Do you know if you have any of the mutations associated with ALS?

    • #11496
      Sheila
      Participant

      I was diagnosed in Nov. 2015, approximately 18 months after actively seeking answers for the “drop foot,” leg weakness, and frequent falls.  I saw probably 2-4 physicians and/or PA’s, and 3 neurologists, had 4 MRI’s and an EMG and still not a diagnosis.  I was eventually referred to Loma Linda University where another EMG was conducted and I was told I have ALS.  I think back to one of the Neurologists I saw, sitting in a chair, telling her my symptoms, unable to stand up from the chair without pushing on the arms, unsteadily walking with definite “spasticity” and she said I needed “lumbar traction, that’ll fix it.”  Knowing what I know now, I think I could have diagnosed myself!  When we talk about awareness for ALS I think that means for the medical community as well.  I have learned that my story searching for a diagnosis is not unusual but rather the norm……………

    • #11497
      Susan Bowman
      Participant

      I agree with Sheila one hundred percent!  I started going to doctors in early 2016 to find answers as to why I was experiencing changes in my speech, the sensation of having something constantly stuck in my throat, neck cramps and most importantly, a decline in breathing capacity.  I saw numerous doctors, had a pile of tests, with no results. Each time, I was placated by a “no news is good news” philosophy.  An endoscopy showed swallowing abnormalities (but no answers as to why) and finally a head/neck surgeon told me my vocal cords were paralyzed and that it was definitely “something neurological.”  It took me about 15 minutes to come up with the diagnosis of ALS, which sent me to the ER with a panic attack.  I was told by the ER physician to “stay off the internet.”  Two weeks later my diagnosis was confirmed by a simple office exam, which included no new testing, by a 2nd neurologist.   While I guess I am thankful I had 18 months of ignorant bliss and normal living, it still baffles me that, with what I now know are classic symptoms of bulbar onset ALS, it took 18 months and 6 different doctors to get the answer.

    • #11521
      Lisa Bonahoom
      Participant

      I noticed a change in my singing voice.  I was a first soprano and felt like I could not support the high notes.  My breathing has changed.  I was also “talking drunk while sober”.  I saw an ENT who scoped my throat and could see no problems.  She sent me to a neurologist who sent me for a brain MRI on Stroke Protocol, which was negative.  I then had an MRI of my throat, looking for a tumor, also negative.  Next I was sent for an EMG which indicated diffuse Motor Neuron Disease in all muscles tested, especially in the muscles that control my tongue.  I could not get any results over the phone, but they sent me to a neuromuscular specialist who gently told me that I had Probable Bulbar Onset ALS. She confirmed it three months later.  That was almost two years ago. I found out last week that I have it genetically, and that my siblings and kids have a 50% probability of getting it.  One of my sisters was diagnosed with an EMG last week and will be joining the ALS Clinic that treats me.  Only 10 percent of ALS is genetic, lucky us.  I actually am lucky: I can still dance, although somewhat breathlessly!

    • #11933
      Mary
      Participant

      Hi everyone, I just joined this site today,  I am at the tests stage although I no in my heart I have ALS it has started in my right hand where I have muscle waste and finding it v hard to write I have been to a neurologist who didn’t think I had ALS had a emg which showed an abnormality in muscle in hand did a spine mri nothing showing so am in limbo I have booked to see another neurologist end May meanwhile both hands cramp up numbness in legs I have heard there needs to b more abnormalities on emg to confirm a diagnosis but neurologist never went through report with me it is v hard at the moment don’t feel I can make any future plans til I no where I am on my own with my 11 year old, the one thing I did prior to all this was start running mayb that was where it started thanks for reading and it is nice to b part of this forum,

      • #11934
        Dagmar Munn
        Keymaster

        Mary, thank you for sharing your story and continuing journey towards a diagnosis.

        We’ve all played the game “what did I do to cause this?” – – but if it were that easy, we’d be putting a lot of medical experts out of a job 🙂 Better that we, who live with the symptoms, learn to adapt…and focus on family, friends and ourselves. My slogan is, we can learn to live well while living with ALS 🙂

    • #11938
      Mary
      Participant

      Thanks dagmar, I am hoping I will get an answer to my symptoms when I go to the neurologist end of month then I can try and get my head around it all I am not coping with the possibility at the moment 😔

    • #13175
      Mary
      Participant

      Hi, I just wanted to add to my trying find a diagnosis story! Here I am nearly a year with symtoms wasted muscle on hand now looks on wrist can’t write without pain legs and feet that fill like anti freeze has been injected into them I have now see 3 neurologists and had 2 emgs been to my doctor numerous times given anti anxiety medication offered counselling even though the emg shows abnormality in muscle in hand one neurologist said try physio she recommended the other neuro who doesn’t no what is causing abnormality but doesn’t think ALS even though emg says chronic neurogenic changes slow firing of motor units!! So now a professor has said I can have a quick 15 mins go over concerns as v busy and my proper appt isnt til Jan with another emg it is so stressful what else can it b the I ternet points to ALS so why is is hard so hard I try to live a normal life with my daughter but this is always hanging over my head my fingers on hand are not right and feel dis ordinated 😢

      • #13183
        Dagmar Munn
        Keymaster

        Thank you Mary for sharing this update. I am so sorry that you have experienced such frustration seeking a medical opinion. I wonder why your doctors are hesitant in diagnosing you with ALS – – and possibly delaying treatment that would be of help? Here is an organization that assists ALS patients around the world. ALS Worldwide. They even have a free service where they will do a consultation via Skype with you (see #5). Perhaps you could speak with them regarding your concerns? Best wishes to you – Dagmar

    • #13193
      Mary
      Participant

      Yes this i am not sure the first neuro didn’t seem to experienced and she referred the 2nd one when I showed him my hand he said well u don’t have weakness it’s like he was supporting her his report went on about my emotional state more I felt my reflexes etc were all normal he has sent report to professor hence not giving me much time as from report it doesn’t look like I have als but I feel I do I hope professor comes up with something I am so scared

    • #14284
      Donna Caruso
      Participant

      In July 2018, my husband had x-rays on his left shoulder because it was so painful. After seeing the x-rays, our family doctor referred him to a neurologist. In September 2017 I noticed huge twitches in his left shoulder. When I asked him what that was, he said “what”. He hadn’t even felt it. After that, the twitching started in his left arm and is still continuing, only it is worse. Our first appointment with the neurologist was in January 2019. After being tested and receiving an EMG on his left arm, the doctor told us that he thinks he might have ALS and that he would like to see us again in 6 months. We went back to see him in July 2019 and they did the EMG testing on his right arm and both legs. By now, the weakness and muscle mass has progressed. We were now told that he probably has ALS. At this time, he has no use of his left arm or hand. Getting dressed is a real challenge for him. I now tuck his shirts in for him, help him put shirts on and sometimes his socks. This is very frustrating.

      During this time, he was seeing a physical therapist at the hospital because he had rotator cuff surgery on his right arm in May 2018. When they were talking, my husband mentioned that the neurologist told him that he probably has ALS. The therapist told him that there is no way you have ALS. After that, my husband came home and was so thrilled because she said that there was no way! It was like being on a roller coaster. I told my husband that we will just wait until the neurologist tells us what is going on because he is the one trained to do that. It has been very upsetting to everyone.

      We have our next appointment on January 28th, 2019 to get the final diagnosis. My husband says he knows that he has ALS. He says he can feel the twitching in his back and in his legs now. Some days, his voice is really deep and he is swallowing a lot. Last night, he said his right leg was so cold so I’m not sure what the next sign will be. I will update after our appointment on the 28th.

      By the way, he also had carpel tunnel surgery on both wrists in January and February 2017.

      Donna

    • #14285
      Lisa Bonahoom
      Participant

      Donna, I am so sorry for your voyage with your husband. It is entirely too common with this disease.  It is a tragedy that he had to endure the surgeries that may not have been necessary.  My sister was scheduled for surgery for carpal tunnel when I discovered my ALS was genetic. They did an EMG on her and found neuropathy.  She now has full blown ALS.  We support each other emotionally.  My best to you.  You have the hardest job.  I wish you strength.  Lisa

    • #14424
      Linda
      Participant

      Do you usually go to a home if you have no one to take care of you?

    • #14425
      Dagmar Munn
      Keymaster

      Linda – – not necessarily. There are agencies (or independent contractor caregivers) in most communities who offer the service of coming into your home to take care of you. Depending on your needs and the arrangements, they can do light housekeeping, cook meals, help with bathing/dressing, etc. We have one in our town that even does nightly “tuck in” and morning “wake up” duties!

      I recommend you contact your local ALS Association Care Coordinator to discuss what they know is available in your area.

      It also depends on your financial status; if you have long-term care insurance, assets, can qualify for funding or…have personal $$$.

    • #14588
      Peter Powell
      Participant

      Hi, Only 6 days since being diagnosed by a highly regarded Neurology Professor and have had an MRI & a nerve conduction study.  Symptoms are a weakness and muscle loss in my right hand, shortness of breath on exertion and the doc says my right leg lacks strength.  All else is fine.

      Seeing a highly regarded Neurology  specialist and volunteering for a trial in another week.

      However, my concern is that I have read how difficult it is to determine an ALS prognosis, and involves a specific blood test and a spinal tap.  Having neither of these raise some doubt about my diagnoses. Whilst I respect the two highly regarded Professors, shouldn’t I have had more tests to confirm?

      Obviously still in denial mode.

       

    • #14592
      Lisa Bonahoom
      Participant

      Dear Peter, I wish you the best.  There is no blood test for ALS, but one can assess whether you have a genetic mutation at the root of your illness.  Most cases are not genetic by far.  A spinal tap is an extreme measure that may show some evidence, but most cases are diagnosed by observation and an EMG.   Mine was found with an EMG.  Your doctor should not make a confirmed diagnosis without seeing you over time, usually 3 months.  He or she will look for progression of the symptoms.   Best of luck to you!  No matter what, live every day the best that you can!

    • #14741
      Peter Powell
      Participant

      Hi, I’m really confused now.  A well recognised Neurologist said I have ALS, after examination, an MRI and an EMG.  He handed me over to another world recognised Neurologist who examined me, re-did the EMG and did a brain scan.

      The outcomes of the second visit were that my results were “abnormal” in both the EMG and the brain scan for an ALS diagnosis.  He then went looking for the blood tests and lumbar procedure ( which were not done by the previous Neurologist).  One comment was that it is usually the dominant hand that deteriorates and then the same side leg.  My non dominant hand is weaker with the opposite leg weaker.

      At this point I was close to tears thinking I may not have ALS after all, however they would not say that, instead they have organised the blood tests, a lumbar puncture and a five day hospital procedure which I don’t really understand to remove “ bad” protein and inject “ good” protein.  They have also started me on Riluzole, but another positive was that they didn’t want to start me on any of the trials yet.

      So, I guess all I can do is wait for the three outcomes.  I did do the ALFRS score with a 36 and 44, so I am probably still in denial, hoping for a different outcome, knowing that I have some of the symptoms of ALS.

      Anyhow, keen to get any feedback from people who know so much more than I do about this horrible disease.

       

    • #14742
      Lisa Bonahoom
      Participant

      Dear Peter, I am sorry for your diagnosis, but your life isn’t over.  Live every day with passion!   By the way, ALS doesn’t always start with the dominant side.    My sister’s started on her non-dominant hand, mine started with my breathing and speech.  There is no blood test for ALS, but there is a blood test to see if yours is genetic.   If it is genetic there are more treatments available.  I have the C9orf72 mutation so I have been in a study that reduces the misfolded proteins in my spinal fluid.  I don’t like the lumbar punctures but I really am doing better!  Do not lose hope.  Use the time with your experts to learn!   Lisa

    • #14744
      Peter Powell
      Participant

      Thanks Lisa, I think I know what the results will show, just need to get on with it and hope the progression is slow.

    • #15058
      Eric Barnett
      Participant

      Mine started out in my right hand/arm. Atrophy, weakness & lack of coordination.
      GP sent me to get nerve test suspecting carpal tunnel.
      That  guy said nope not carpal tunnel it’s coming out of your neck region. Up Next was an MRI on my neck. They did find a problem with three of the disc. So off I go see a spine and brain surgeon.
      He says symptoms do not support what  the MRI shows so he ordered another nerve test with “his guy”. This guy says well there’s definitely carpal tunnel issues but there are some other puzzling things going on. He suggested carpal tunnel surgery first and see what happens. Sooo had carpal done in 3/18.
      I went back six months later and told the spine guy that nothing has changed with the symptoms. There I go for another nerve test with his guy.  Results were no carpal tunnel issues but there was still something else that puzzled him. Sent me to Seattle Washington in January 2019.

      2 experts and several hours later with more testing I had a diagnosis of ALS.  Doesn’t it seem like there’s an off a-lot of so-called experts out there doing a lot of guessing with us?

    • #15074
      Dagmar Munn
      Keymaster

      Eric – – I am sorry that you had to endure such a long way ’round to get a final diagnosis. And, that you were diagnosed with ALS.

      So many general practitioners and even specialists are unfamiliar with the symptoms of ALS…or are tunnel-vision focused on what the bulk of their patients suffer from, that they fail to catch the outliers with ALS.

      Hopefully, you will find answers to your questions here in the forum – – if not, ask and create new topics! We are a welcoming community here to support each other as we learn to live with ALS.

    • #15075
      Marianne Opilla
      Participant

      Peter,

      ALS are the most devastating, horrific letters of the alphabet. My diagnosis was made in Oct 2019.  I, too, had right hand weakness/atrophy leading  to carpel/medial tunnel surgery. But I also had intense muscle cramping, and twitching (fasciculations) and hyper reactive reflexes which were findings that contributed to diagnosis.  My neurologist ruled out many other diseases through blood work and MRIs,  EMGs and physical exam.  Have not had spinal tap or hospitalization for diagnosis.  His approach is that he is 98% sure it is ALS but will not stop looking for other causes.  To my knowledge, ALS has no predicted course of right to left or slow/fast progression.  It is so varied per individual, making research challenging.

      I take Riluzole.  I was to start oral Radicava trial end  of March but delayed due to Covid-19 and  clinics being closed.  I exercise to keep the strong muscles I have remaining. I eat healthy.  I take CoQ10, Turmeric, magnesium.  My tongue has gotten “wonky” and my left leg is slightly uncoordinated over the last year, but I was able to ski in February.

      I have read everything on the Internet…proceed with caution.  I hope you do not have ALS but if you do, remember to ‘just do you”…what works and feels good.  We are in this somewhat alone and each journey is different person to person.  Please stay in touch with us!

       

    • #16336
      Lucyb1992
      Participant

      Hi

      I hope people don’t mind me commenting on this page however I am really looking for some advice/comments/reassurance.

      My maternal grandmother had ALS when she was 68. My own mother does not have ALS.

      I have symptoms such as;

      Weakness in my right leg and foot (strength tests show I don’t have weakness though) and my big toe on my right foot feels numb and tingles.

      Weakness in my right wrist/hand (but can still use it)

      Twitching in my right leg, foot, left shoulder, left side back, and left arm. Fine little flickers under the skin and sometimes visible twitches.

      Tingling in my feet and my legs, tingling in my left shoulder.

      Feels as though my tongue isn’t working properly in my mouth, feels tingling, numb and feels as though I can’t speak properly although family members have not said anything. My voice seems quieter and my throat feels tight – I can still eat and drink.

      my balance feels as though I am really unsteady and just generally really off balance.

      my legs feel lifeless, heavy and shaky when walking.

      Racing heart, palpitations.

      my thoughts don’t seem clear and nothing feels real to me.

      my whole body feels horrible and fatigued and like I have no life in it. i have no motivation for anything or strength for anything. I’m tired and fatigued 24-7.

      some weight loss and my legs appear to be thinner but the neuro team say my legs are fine.

      I can still raise on to my tip toes, heel walk, jog on the spot, I can eat and drink.

      i had an EMG carried out in my right leg, left arm and hand, my thoracic back area and under chin (I assume my bulbar area). The neurologist wrote to me and said it showed no evidence of ALS or any other problem.
      I also had an EMG in February 2020 in my left leg only which was also normal.

      i had a brain scan in December which shows something called chiari malformation and loss of cervical lordosis in my spine.

      I saw my general practitioner 5 weeks ago who measured my strength 6 out 5 so higher than normal and I saw a neurosurgeon 2 days ago who tested my strength and didn’t raise any concerns (he said my legs and shoulder looked and appeared normal).

      can anyone tell me if this sounds like ALS? Any comments are much appreciated. Thank you.

    • #16346
      Dagmar Munn
      Keymaster

      Hello Lucy – – You haven’t mentioned getting a genetic test to see if you do have the gene for ALS. That way, you can rule out familial ALS.

    • #16355
      Chris Koch
      Participant

      Amanda,

      I now know what was my first visible sign of ALS ; problems with my breathing. I know the EXACT DAY it started – the day my TWIN BROTHER DIED, he was only 52 years old.

      I literally could not breathe, the nurse in the family put me on oxygen for a while to catch my breath.

      I went to my doctor and he did chest x-rays etc and found nothing. My speech started to slur occasionally, maybe once or twice a week – the doctor had no clue other than I wasn’t sleeping well and was still grieving even after 6 months.

      Within 8 months, I was slurring a lot – everyone around me noticed. MY HUSBAND asked me if I was drinking during the day or taking drugs – this was the man that I was married to for 17 years at this point, but he had to ask because there had to be a reason for the slurring.  Phone conversations were difficult.

      I switched doctors a year after the first symptoms. Then I started experiencing “cramps” in my ribs, arms, neck and legs. We thought maybe I was overdoing it.

      I saw another doctor and neurologist and ENT doctor; I had MRIs, EMGs, blood work and still no one could figure it out.

      I was sent to speech and physical therapists – the speech therapist had no idea how to even begin to help me.

      I was referred to a neuro muscular specialist – but my insurance wouldn’t cover it and I wasn’t able to pay for it on my own at that point in time.

      I saw a counselor – hoping it was just grief doing this to me.

      Then the tongue tremors became noticeable, and slight twitching in my arms, and the cramps were still happening but not as often.

      My husband began experiencing SOME of the symptoms I had, like intermittent numbness in the arm, being slightly out of breath – and we soon discovered that the house we were renting had MOLD growing in the basement under the carpet and baseboard.

      So we moved, and decided to give it time to correct itself. After about 3 months, my breathing was better but nothing else improved, meanwhile my husband’s symptoms cleared up. The majority of my symptoms so far had been strictly in the face and speech and swallowing.

      By November of 2019, we finally had saved enough to see a specialist. We tried to get an appointment but there was no way to be seen BEFORE MARCH 2020. In the meanwhile, we had the EMG’s done again and two CT scans, a swallow test and a ton of blood work – seriously  on one visit they drew 12 vials of blood!

      By December 2019, I noticed that I wasn’t always walking correctly and I didn’t seem to be able to lift as much as I could before.

      On March 9, 2020, I saw the specialist and she had no doubt this was ALS. Almost 3 years after my first symptoms, I finally knew what was wrong.

      Unfortunately,  the muscle weakness has progressed quickly for me and is very problematic. I am learning to adapt but it isn’t always easy – there are days where I just want to give up but I keep going to the next one.

      So maybe there is a link between trauma and the onset.

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