Respiratory onset?

[Diana Hosner]

My husband sleeps in his lazy boy chair because when he lays down he says his breath gets shallow. Two days ago they did a sleep study. We don’t have the results yet. My husband started in January with shortness of breath and voice slurring.

[Giselle Vargas]

Hi Diana,

I hope that the results of the sleep study are helpful. My husband sleeps with a non invasive ventilator which allows him breathe while lying down. He does breathing exercises with a spirometer and stacked breathing. I’m not really sure if it helps or not. If you don’t mind my asking, does your husband have a hoarse voice or does he slur his words?

 

[Dean]

Hello Giselle,

My first symptoms of ALS were shortness of breath like your husband.  I kept thinking my struggles with working out (jogging, elliptical, HIIT training) were due to me getting older.  I was also noticing facilitations in both of my calf muscles. By the spring or early summer of 2019 my breathing issues were getting worse until I finally ended up in the ER on 11/19.  That’s when I received a diagnoses of ALS.  There are no words to explain the blow that diagnoses took on me and my family.  I started on Riluzole by 12/19 and have noticed a somewhat slow but steady decline in my abilities.  I also started on the Trilogy breathing machine for at night lying down and resting during the day.  It’s been a long and difficult road dealing with all of the ALS symptoms along with COVID-19 locking everyone down in my state.

I have also had the issue with my voice being slurred and raspy.  I’m still able to walk, use my arms, drive, etc.

[Giselle Vargas]

Hi Dean,

Your experience sounds so similar to my husband Sergio’s! Very recently he was having trouble clearing his throat so we got a cough assist device which is very helpful. The therapist said in addition to clearing it helps inflate the lungs and keep them in better shape. May be helpful for you? I’m curious… Did your doctor use the words ‘respiratory onset’ with you? Our MD hasn’t … I found that term online… but it’s definitely a different pattern than most. We certainly understand how Distressing this whole experience has been especially with Covid adding a whole new layer of anxiety to the situation. We are on Long Island NY and went through a very rough patch with Covid back in March/ April. I am terrified of the virus since Sergio’s breathing is already compromised. Hang in there… so many promising treatments are just around the corner ? We are both sending you and your family a big virtual hug of solidarity and support!!

Giselle

 

[Tim Burr]

Hi all,

I started with difficulty lifting things in front of me. Never a problem before. Had some PT, but one of exercises called for me to lie on my back on the equivalent of a pool noodle. I realized that my chest was not lifting when I inhaled. About two months later in September 2019, I walked to work because it was raining (I have been bicycling to work for 40 years, but not in the rain). While my walk was only seven blocks, I had to stop three times to catch my breath. That started my tour of doctors. i also was having difficulty sleeping, waking about every hour to go to the bathroom. Then i would pant in the morning when I came down to breakfast—and sometimes fall asleep during breakfast and at work. Finally in January 2020 I was diagnosed with ALS and got a BiPAP breathing assist machine. Once I was using it through the night, I slept fully. A great relief. Just make sure you have someone who will come to you to make sure you have the right masks (I use two after going through a number to find the most comfortable) and the air flow is adjusted correctly. The respiratory therapist needs to see how you sleep to make sure everything is set up right and to explain what you need to do to make the most of the equipment and to be comfortable. That is where the various masks come into play. I use the BiPAP occasionally during the day as needed, usually during a nap.

The only drawback to the BiPAP is that my nose runs like a faucet for about an hour after I get up. If anyone has an answer to that, I would love to hear it.

Tim

[Susiebow]

Greetings,

I was diagnosed August 2017 with Bulbar onset.  Had sought a diagnosis for both breathing and speaking issues.  Was immediately given a bipap, which I used faithfully at night for the first year.  It was a great help in sleeping through the night.  Year two brought a gradual decline in breathing, and by year three I was issued a trilogy ventilator which I use now over 20 hours per day.   My voice is weak but still able to be understood.  I am still fully mobile, but my neck muscles have weakened to the point that holding my head up is increasingly difficult.  Overall weakness and very low energy are my other challenges, which I attribute to poor breathing.  I can still talk, but lack of breath and wearing a mask all the time severely limits my ability to communicate.  I do have a cough assist, but as of now, don’t suffer much from excess phlegm or congestion.  Although, Tim, I do have a drippy nose upon waking.

Best of luck to all,

Susan

[Giselle Vargas]

Hi Susie,

Thank you for responding! It sounds like you are a very strong woman and really hanging in there! My husband’s symptoms do sound similar to yours. Neck muscles are weak. He has a very good neck support he bought on Amazon…brand name is VIVE. I am curious as to what kind of speech problems you have. Do you slur your words or is your voice increasingly low and raspy. I ask bc I have read that slurring is upper motor neuron issue and hoarseness is lower motor neuron. Just curious, I don’t want to be intrusive. I am sending you a big virtual hug! Stay strong !!

Giselle

[Venu Vasala]

I was diagnosed with Bulbar onset one year back. Since few weeks, I used to wake up with difficulty in breathing. Thereafter I started doing these two Yoga techniques which are helpful in controlling inhale/exhale:

1. PRANAYAMA : inhaling through one nostril (closing the other with thumb/little finger) filling the lungs and slowly exhaling through the other nostril (after closing the 1st nostril). Then repeating the same with 2nd nostril.
2. KAPAL BHATTI: The process of quick exhale, while pulling-in the stomach and releasing.

I believe doing these two simple techniques for about 10 to 15 minutes in morning & night will help in strengthening the diaphragm. If anyone is interested, it’s best to take guidance from an experienced Yoga teacher.

Also practicing a meditation method known as “ANA-PANA” before going to sleep, will enable better sleep.

[Dagmar]

Those are excellent suggestions Venu – – we can learn much from the breathwork techniques taught in Yoga.

[Susiebow]

Hi Giselle,

I would say my speech is more low and raspy, rather than slurring.  Everyone in my family can understand me except my husband who is hard of hearing and isn’t interested in hearing aids.  So I really have to enunciate and speak slowly for him to get what I’m saying.  Complicating speech even more is wearing a face mask most of the day.  I know some have mastered speaking while wearing a mask that only covers the nose, but I struggle with those.  So I remove the mask to speak short sentences.  Long conversations are not possible. Thanks for the tip on the neck support.  I will definitely check that out.  I have two, one simple foam given to me by the OT, the other a Vista, neither one very helpful.  Plus wearing the neck brace and the face mascot the same time is just a bit too much to handle!!

Good luck to your husband,

Susie

[Dagmar]

Here are two more tips for you Giselle:

https://alsnewstoday.com/2020/02/11/microphone-voice-hear/

https://alsnewstoday.com/2020/04/14/google-euphonia-ai-speech-dysarthria-isolation/

 

[Elizabeth Benz]

Another place you might want to post is on the ALS Forum for Women (Lou Gehrig’s disease) on Facebook.  Both CALS and PALS are active there

[Mimi]

Hi,

I m so sorry to disturb you. I want you to be sur I didnt write for pleasure.
please excuse me. I feel in a desperate situation. I am Swiss and my English is not very good. But I will try to explain my situation to you. I think you are in a good position to know how hard it is to be sick and unanswered.

I m a 26yo (soon 27) swiss girl. I m single and live alone. I m a nurse. I was also an athlete, I m a boxer and I made sevral fights. I was in a perfect shape and I never had any health issue before (mental or physic)

Until early march I m struggling with weird symptoms.

It’s begin in early march. During a boxing training I feel my arms were very tired, I thought it was a bad training day. It happen sometimes. Muscles aches last for one week and I also have low back pain and shoulder/neck pain. Like it s contracted, cramped. Few day later I have shortness of breath it s seems to happen randomly (no cought, no fever). I tought I had the covid19 but the test came back negativ. I continue working thinking I had a flu or a cold. Pain and random shortness of breath continue. I go back to my general Dr, he made the current blod test and little more (lyme and other current infectious diceases all came back negativ). Fasciculations appeared, I don t have much and they don t last long but they appear everywhere on my body (legs, arms,abs,rib cage, tongue, face). I also have bad cramps every where (same places as the fasciculations). I also feel my muscles are stiff. And also experience constipation from early march. I feel also a lot of muscle fatigue and also general severe fatigue. Like I need to sleep but I can t have a restfull sleep.
From early june sorthness of breath increase and I can t sleep because I feel I can t breath and it s wake me up.
I went to the ER 3times because I felt bad and I want an answer to my problem, I started to be anxious there is something seriously wrong with me. They made chest Xray, all the cardio test,… everything is normal.
The tird time I went to the ER the keep me in hospital for one week, make tone of blood test, pulmonary fonctions (little bit low but they don t seems to be affraid of it), EMG (arms and legs), brain MRI. They conclude: anxiety

From their I take an appointment with a psychiatrist, I take med against anxiety and an antidepressent. I try relaxation, breathing exercises,… (they make me feeling worse because I m feeling like I choke)

Everything go worse and worse and I m hopless.

Neuro conclude: no clinical weakness, no atrophy, normal reflexes,… despite I feel weaker and weaker and so tired. Everything is harder, breath went worse. Cramps are worse specially in low rib cage, abs and throat. But also in legs.

I think my case is so atypical because I m so young and also maybe because respiratory onset is even more rare.

I can t work any more, I move to my mother.

Please can you share your experience with me. If you have any suggestions I m open minded.

Thank you so much for your answer. Be sur my intentions aren t to be rude or unpolite.

be sure that I send you all my support and all my thoughts.

Camille

[Dagmar]

Hello Mimi – – Thank you for sharing what your symptoms are and your challenges in being diagnosed.

I suggest you read the posts made by our members in this general forum category: Diagnosis and Other Information. You may find those who have described symptoms similar to your own. Then, do look at our category: Living with ALS, as there will be many shared tips and good information about day-to-day living.

Feel free to post questions or your updates. We are a friendly, supportive group 🙂

[Ron Scott]

My symptoms began in January 2017 while on vacation I had difficulty breathing when I went snorkeling with my wife. I am scuba certified and open water rescue certified therefore I was a little freaked out because I couldn’t breathe while snorkeling. Well that was the beginning of my journey to find out what was wrong. Over the next 18 months I went through vigorous testing from my heart having an angiogram and probably every respiratory test known. I had an episode at work where i could hardly breathe so I went to the hospital where they did a sniff test, nuclear imaging, a brain MRI and tons of other workups- They found nothing wrong with my lungs or anything else for that matter.. I went to a neurosurgeon that did an MRI on my neck and realized that I had severe bone spurs that needed to be repaired. I was also losing strength in my hands, I couldn’t open a package of crackers. Therefore everyone thought that the bone spurs were blocking my spinal fluid and affecting my frantic nerve along with the nerves that go to my hands. The surgeon sent me to a neurologist to have an EMG, which I did and was made aware that I had fasciculations and no mention of ALS. On October 1, 2018 I went into a 4 hour surgery to repair my neck. The doctor kept me in the hospital and on the 3rd day I lost the use of my right arm and on the 12th day I lost the use of my left arm. I was sent to inpatient rehab and ultimately stayed in the hospital a total of 26 days. I was prescribed to go on electro muscle therapy along with a daily use of what they call a bone stimulator. Upon a visit to my Neurologist/doctor in early November he noticed I was having severe fasciculations In my legs and that I should get that checked out because it could be ALS. 3 weeks later a neurologist informed me that he was 80% sure that I had ALS and that I need further testing. After 2 more doctors 1 of which is a world-renowned MD and ALS scientist at Houston Methodist Hospital named Dr. Stanley Appel. He and his team are remarkable people and really helped me focus on keeping a good/positive attitude because that will determine how long I live. Since my diagnosis I have survived because of the trilogy noninvasive ventilator which I have one On my bedside and one on my motorized wheelchair. Dr. Appel said I could live in the 20 years with this machine. Since my diagnosis my breathing has gotten worse And I have pretty much lost the use of my hands and arms and am pretty much bound to my wheelchair when I’m not in bed. I have been informed that the worst thing that I could’ve done was to have the surgery.I can walk maybe 20 feet but I’m so out of breath have to get back in my chair with the ventilator. I have not seen any degradation in my speech or my ability to eat (with assistance of course) and am praying for 1 of the various trials to be successful at slowing or stopping this vicious disease. I am happy to further discuss the with anyone that is interested.

[Amanda]

@Ron Scott,

Thank you for sharing your experience in detail. All to often pALS have a long road to a proper diagnoses. Please continue to share because I think your attitude is inspiring.

Amanda

[Gideon]

My wife Neck muscles are weak. I call Appel Clinic Dr Stanley Appel.  MD and ALS scientist at Houston Methodist Hospital .   Thy recommended “Headmaster Collar ” by Symmetric Designs Ltd.( bought on Amazon) You can adjust the distance between the chest and the neck up to 3″.With additional part to support the back of the neck( metal plate).  Unfortunately my wife developed allergic reaction from the material .

After a long research i did find one “AEVO” travel pillow on Amazon this one hold my wife neck and support  her  back of neck ,I recommend it and the price is right about $19.99.My wife  lost the use of her  hands and arms .She on trilogy noninvasive ventilation and Oxygen which help her at night and  day. P.S Unfortunately   to my saddest, Dr Appel is no longer at Appel Clinic after is wife pass away this year .He only do research on ALS.

[Stephanie]

My father was diagnosed at the Mayo Clinic with late-stage, respiratory onset ALS three weeks ago (July 2020).  We’ve been searching for answers, seeing many doctors, and having numerous diagnostic appointments for 3 years trying to understand the cause of his rapidly declining health (breathing problems, significant weight loss, weakness in his hands/limbs, headaches, passing out).  I’m sharing this in the event what we’ve experienced or learn can help someone else.  His situation was complicated by extensive nerve damage to C5 in his neck.  He has bilateral elevated and weakened diaphragm which doctors thought was due to phrenic nerve damage.  They were confused because the phrenic nerve comes out of C3/4/5 and if one area is damaged, the others are supposed to pick up the load.  As it turns out the damage to his diaphragm was due to ALS and the other neurological issues made it all the more difficult to diagnose.  For those who are suffering from breathing problems, we had a “standing and lying Sniff test” that was very valuable to know how functional his diaphragm is.  We had multiple EMR nerve conduction tests, including at Mayo, that didn’t spot ALS.  The key symptom that we didn’t know to look for which convinced the neurologist at Mayo that he has ALS is extensive nerve fasciculations (muscle twitching) which others reported.  The Mayo neurologist said that 5% of all ALS cases are respiratory onset and that they’re difficult diagnose.  My dad’s been using a BiPAP machine at night since August 2019.  Over the past few months he’s advanced to needing extensive breathing assistance the during the day, preferably on his BiPAP but we’ve also been fortunate to have a ResMed Astral 150 that’s portable.  We’re lucky that he’s still able to walk within the house but it’s increasingly exhausting for him to do so.

I look forward to watching this thread for information and contributing if there is something I/we can offer.

[Michael]

Good Evening,

I am reaching out because I am beyond losing my mind trying to reach a diagnosis and was wondering if anyone knows some helpful questions or tests to ask doctors that might help get to a diagnosis.  I believe I have respiratory onset ALS.

A brief history:

I am a 35 year old male, in great physical shape and health until this past May when I was jogging, I felt short of breath.  I had a mild fever so I immediately thought “oh no… COVID”.  Took two COVID tests, both negative.  I went to a pulmonologist and did the spirometry test and it was abnormal, so they treated me for asthma, well asthma inhalers didn’t help… took another spirometry test with methocholine to confirm, no asthma, as well as an allergy panel, and no significant allergies either.

Meanwhile I have noticed the toes of my shoes sometimes scrape the ground while walking, as well as muscle loss/deformity, like my biceps look deformed with a dent in them, my forearms look frail, and most significantly, my legs are losing muscle as well.  And 24/7 twitching all over, chin, arms, legs (mostly in calves). (Ps, has anyone had any painful muscle atrophy during the course of their disease?)  I know they say pain isn’t usually associated with ALS, but I definitely notice painful muscles/joints, like aching.  Also, all my muscles have begun to feel like jello and lost tone, especially in my neck/back. Painful neck and back also.  I saw a general neurologist who has now referred me to a neuromuscular specialist.

While I wait for that appointment, I was wondering if anyone has any suggestions/tips on the right questions to ask to address respiratory onset ALS.  I have since been on anti anxiety meds to help, and it has helped calm me, but I still can’t get a full breath, even at rest.  Anytime I mentioned this symptom to the neurologist, I was kind of blown off saying they aren’t a pulmonologist… even when I had an EMG/nerve conduction study (both Normal), the doctors really didn’t address my concern.

Any help with how a diagnosis was reached for people with respiratory onset ALS would be extremely helpful so I don’t go to this appointment that I have been waiting so long and just blow it.  Thank you all so much.

[Stephanie]

Hi Michael.  I’ve been working with my dad to get a diagnosis for what we understand is respiratory onset ALS, which we received at the Mayo Clinic in Rochester MN in July this year.  The EMG at Mayo didn’t reveal anything related to ALS but I understand from the neurologist that this isn’t unusual as there are very specific things that have to be looked at in an EMG for it to reveal information consistent with ALS.   The key symptom that convinced the Mayo neurologist that my dad has ALS is extensive muscle twitching (fasciculations) in his arms and legs.  He also has symptoms like significant weight loss (40 pounds in 8 months); loss of strength in hands, arms, and legs; loss of energy; and loss of vocal strength in addition to both sides of his diaphragm being significantly elevated and weakened.  The diaphragm issues were diagnosed by a combination of pulmonologist and neurologist through a standing and laying SNIFF test and MRI.  My dad has extensive nerve damage in his spine, which made diagnosing the diaphragm issues and ALS more difficult.  We’ve transitioned to an ALS Association Certified Center both for local care and another opinion.  Interestingly, they are evaluating my dad for Kennedy’s disease, also known as Spinal Bulbar Muscular Atrophy (https://www.kennedysdisease.org/), another motor neuron disease which has similar symptoms to respiratory onset ALS but which can be diagnosed via a blood test.  Based on our 3 year journey to a diagnosis, I highly recommend you investigate both Mayo Clinic and an ALS Associated Certified Center near you, if you haven’t already considered these options.  I hope this is helpful.  My best to you.

[Giselle Vargas]

Hi Stephanie,
Which doctor or doctors did you see at the Mayo Clinic? After reading your post I am considering going for another opinion on my husband’s case. It sounds like they are extremely thorough. My husband also lost exactly 40 lbs over about 8 months! Weakened diaphragm and Very shallow breathing .. but we never had a SNIFF test. He has widespread facsiculations and generalized weakness too. His neck has become weak. I have read about Kennedy’s but didn’t know there is a blood test. I often feel confused by my husband’s symptoms bc they don’t match typical patterns I read about.  I wonder if we have missed something!
Was it difficult to get an appt at Mayo? Did you come from out of town? I’m wondering if they can schedule everything together for out of town patients.

Best wishes to you and your father!

Giselle

 

[Chris Koch]

I had respiratory onset – I suppose (read as guessing)  it started in Feb 2017; it seemed like I had a lot more sinus issues and stuffy nose etc than I have ever had. I didn’t pay too much attention to it; I was busy taking care of my brother who had cancer and we were constantly (it seemed) at the hospital for treatments/tests/complications.

On Memorial Day (approx. May 28th) 2017, he died and I experienced my first instance of not being able to breathe AT ALL – my sister (a nurse) had to give me supplemental oxygen.

After that I experienced shortness of breath daily. I saw my primary care provider, went for chest x-rays and they could find nothing – chalk it up to my grieving and loss was what I was told.

By October of 2017, I occasionally (maybe once a week) slurred my words almost exclusively at the end of a long day. Again, we attributed it to lack of sleep associated with me still grieving.

By February 2018, the slurring was apparently noticeable during the day by co-workers and I started feeling stuffy almost constantly and have a rough lower sounding voice along with the “wheezing and shortness of breath”.

By June of 2018, I found a new primary care physician and saw him with my list of symptoms and start dates. The breathing issues were listed as “adult onset asthma” and I was given pills to take. They didn’t help much. In July 2018, I was referred to an ENT doctor and a neurologist.

The ENT could find no reason for the breathing issues or the constant “stuffy nose” and “nasally voice”.

The neurologist ran blood tests, MRIs, EMG and other tests – nothing was found that pointed to the possible problem, although I had symptoms that could be seen and heard.

I continued to see the neurologist every 6 weeks for almost 6 months.

I was sent to a speech therapist in Aug of 2018, she couldn’t help me – she had never seen anything like the combination of speech issues that I had.

In Sept. 2018, family convinced me that maybe I was suffering from PTSD over the still painful loss of my twin brother- so with no other avenues to pursue, I attended weekly counselling sessions for six months.

2019 brought different paths to explore, My husband began to experience some of the same symptoms that I had; stuffy nose, numbness in the arms.  I had an infected tooth (possible link to speech- so I was told) we discovered mold in the house we were renting possibly the link to my symptoms???!!! We moved immediately and gave it a few months to improve- no such luck I was getting worse.

By Jan. 2020 my respiratory issues seemed to be slightly better but everything else was worse. I went outside of my insurance network and located a neurologist that I felt had the expertise to properly diagnose my medical condition.

On a side note, in December 2019, all my medical records were sent to the Mayo clinic, their doctors could not even guess as to what was wrong with me based on the tests that I had done during the previous 2 years. While we worked on getting approval for an appointment at Mayo, I found a neurologist outside my insurance network but still close to home that I felt confident in.

On March 9th 2020, I received the official ALS diagnosis. I am on Riluzole and Radicava, but the physical decline in the past six months has been frightening.

Had any of my previous doctors suspected ALS – I would have pursued treatment THREE YEARS earlier. But my testing didn’t show what they expected to see so ALS was crossed off of their list.

My current neurologist is on top of everything.

My ALS started with the respiratory then progressed to the bulbar onset was SO DRASTIC that the respiratory symptoms took a backseat and became more of a nuisance than the main focus. Finally the limbs were affected almost 2.5 years from the initial onset.

I’m sorry about the long post – but if it helps just one person to identify ALS earlier than I did – it can make a difference.

 

 

[Mimi]

this is scary because even when the EMGs are normal, it is possible that later the diagnosis of ALS will still be given at the end.
I wonder if EMGs are normal or if doctors can't read them well?
This disease is really cruel, it kills us but first makes us live a nightmare even to be diagnosed.

[Dagmar]

Michael – – I’m sorry you are experiencing such a cascade of symptoms that your current doctors are unable to identify. I’m sure that to most of us who are living our lives with ALS, your symptoms sound very similar to what we experienced.

When you see your neuromuscular specialist – – be sure to ask if he/she has experience diagnosing and treating ALS patients. Those doctors who do, understand the need to act quickly; make a diagnosis and begin proper treatments. Those who don’t, often hesitate to deliver such a “devastating diagnosis” to protect the patient’s emotions… but in the end, delay helpful treatment. Plus, whether is it ALS or not, just knowing a diagnosis – – what “it” is, can be relief.

While you await your appointment, please read through our other forum topics and comments. There are many helpful tips and suggestions from our members that you can begin doing now. Best wishes to you…check back in and let us know what you found out.