Diagnosed Yesterday

[ColleenMarie]

As if yesterday I was diagnosed with Bulbar ALS by the second ALS Specialist I saw and concluding all of my tests I have done for many months. If there is anyone out there who can share some of what they felt if they have Bulbar as things progressed. I was told that my speech would get worse, which I know. It could be acute anxiety, but I have also found that my lips are numb, there is tingling, I sometimes bite my tongue. Is this also something others have experienced. Any advice is appreciated. I am devastated - understatement. I want the earth to swallow me whole as I fear what comes. I came home from my second appointment today grief stricken, dreading having to impact the people I love with this awful news. We have been through so much loss already and now this which I fear will break two of the people I love the most. Ironically I lost a friend to ALS last February in 2021 and the anguish was so great that at the time I could not conceive of what that would be like. Now I will know. How people get through the day, how they sleep - I just do not know how and I thought I could handle a lot. Thank you for any sage advice. Only people who are living this understand and for your input I am eternally grateful.

 

[Nikki J]

I am sorry it was confirmed. The first few weeks are the worst. You are in deep shock. There will be life on the other side but now you are allowed to grieve.
your path will be unique. It won’t be identical to your friend’s or to anyone’s here.

do you need medication to help you through? I am not a person for much medication but for the first week or so after diagnosis I took an anxiety medicine prescribed by my pcp. It helped me sleep and focus. It is the only time ever I took anything and I didn’t need it after

when you are ready a priority for bulbar onset is voice banking and recording your voice for your loved ones

 

[ColleenMarie]

Thank you so much Nikki. I will be starting Riluzole probably tomorrow. I think voice banking is something I will work on right away and I agree, medication to cope with the shock, grief, anxiety is needed. Going in again today I saw other people at the clinic and it is distressing. People of various ages. I will be donating my blood for the research project and do what I can. It helps to talk to people here. The compassion, connection here has sustained me through the months of tests and I will need it now more than ever.

 

[suziQ]

sorry you are dealing with this Colleen. i too have bulbar, diagnosed in October. i know the devastation of the diagnosis. Right now i still have my speech but it is worse, same with eating. i have bitten my tongue and and cheek a few times. Hang in there it will get better on an emotional level. i still have some days of grief but i find if i sleep well and take it one day at a time i do better.

 

[ColleenMarie]

Hello SuziQ - Thank you for the kind words. When did you first notice symptoms of speech changes? I realized I did not have any videos on my phone or anything with my speaking so I could hear myself when I think it begin for me to compare. People thought I was hitting pandemic wine too hard or something. I am trying to sleep as well as much as humanly possible and will try to take each day at a time. Right now I can only think of the worst of this though I continually try not to. Being able to communicate with others who have this diagnosis means a lot to me. Have you had any issues with it spreading to your hands and so forth. My Doctor would not tell me much about that except that everyone is unique.

 

[lisa g]

Colleen, so sorry for your confirmed diagnosis. You'll need time to wrap your head around it but know your not alone in your journey, you will have a good support system here. I was officially diagnosed in 2019 but symptomatic since 2016. We all progress differently, my speech and gait are effected but I'm still mobile. I encourage you to start voice banking. I've been banking my speech for 2 years. If you contact the Gleason Foundation they will set you up with a zoom recorder to bank your speech. They also will do zoom meetings to set up everything with you and walk you through the process. You'll be happy you did it.

 

[suziQ]

yes, everyone is different. I notice slow speech around June but no one said anything so i thought it was just me. Then i went to Georgia the end of July and friend there noticed it. After that when i mentioned it to anyone they said the noticed but thought i was tired, one thought i was drinking

i have some twitching in my left arm and torso. my left hand cramps up on occasion but can easily uncramp it. My left arm is testing a bit weaker but i don't notice it. try not to focus on what might happen or when. Really no one knows how this is going to go for any of us.

There is a grieving process with this, take your time through it and talk to someone if you can, I have a therapist and a couple close friends i can talk to about everything and spoke to my Pastor today which also helped. i don't know where you stand on faith but i firmly believe that Jesus is right next to us as we go through this.

 

[lgelb]

Just a note, Suzi, that there are different beliefs here, as everywhere, so we ask that religious content go here.

 

[Nikki J]

I am glad you are getting involved in research Colleen. Were clinical trials discussed? Were you offered genetic testing?

 

[ColleenMarie]

Hello Everyone. I was offered genetic testing and that was sent out yesterday. I was told they have clinical trials, but that has not been discussed yet. I met with Dr. Li at Duke ALS Clinic. I see her again on April 5th. When I met with Dr. Cartwright at the Wake Forest Baptist Hospital's ALS Clinic in January as Duke did not have a time open (and it is far for me to go there), he mentioned what he thought it could be. He told me I could come back to him in 6 months or if things got worse. His comments in January were the following. Sorry this is so wordy, I am so needy of your time and feedback. I am in shock I guess. I feel like with the members here I am talking to experts on many levels and above all personal experience, so I appreciate all feedback, indulgence.

Dr. Cartwright’s Comments
61 y.o. woman with 8-10 months of progressive dysarthria but no dysphagia or other weakness. EMG was reportedly normal, MRI brain unremarkable. On exam today, patient's speech was slightly spastic but clear and understandable, no identifiable weakness or fasciculations but did have 3+ reflexes throughout including jaw jerk. Possible causes include upper motor neuron bulbar-onset ALS, PLS or stroke not seen on MRI.

My GP who has taken care of me for 15 years sent me for another MRI of my brain and neck (waiting results) last week. My MRI of my brain was normal late last year. She also did more bloodwork (my thyroid has been out of line and she is correcting that with medication). She did an ultrasound of my heart, neck. At the ALS Clinic they did not seem interested in these latest tests.

Yesterday I met with speech, pulmonary, OT team members. They have called in Riluzole and adjusted my anti-depressant as I am doing very badly in that department.

With all the tests I have done over many months including this week - EMG, Swallow, Seeing neurologists, physical exam, Two ENTs - everything has been normal but my speech is impacted and the jaw jerk reflexes were 2+ and others 3+. Some tongue weakness. I have bad TMJ, I have numbness around my mouth (Stress?) and often my tongue has the sensation of feeling like I ate something too hot (like burned). I think I am so freaked out, depressed, sick with anxiety, fear, grief that I might be creating more issues as I scrutinize every bite I eat, step I take. It engulfs a person completely. In my situation, the two family members closest to me are so dependent (I was the strong one) that I fear it is going to harm their health as they struggle to manage. I am the only living family member they have, depended on, so like each of us - we worry about those we love.

Seeing Dr. Li Monday, she did a physical exam and her diagnosis was made very quickly - 15-20 minutes. She did not look at the test results I brought and I reminded her to look at all the blood work from my first ALS test (everything was normal except Thyroid). It kind of surprised me as I expected it would take a little longer as celiac was tested or other MRIs may come in and I have not had much to show except speech. It seemed like in just being there I was diagnosed. I probably noticed speech last March (2021) and it has pretty much stayed the same from what I can tell with family, friends listening who know me well. I worried that I had other health issues producing dysarthria. I was told it could not be a stroke as Dr. Cartwright mentioned due to weight I carried.

My diagnosis probably took 5 months. I expected it might take longer. Dr. Li did say it seemed like a slow progression but of course that can change.

Thank you to all of you for your compassion, generosity. I know faith should not be broached, but I can only say that the love we all feel is powerful and spiritual. Our suffering, the suffering of those we love is terrible - but love guides us to endure, to work hard and help others. I will do whatever I can to help research, donate my blood (I did that yesterday). Seeing a friend pass from this disease has been so hard. Going to the Clinic I saw other patients and I just wish, pray that we find more to help, to beat this. This forum has helped me beyond words.

 

[Nikki J]

I looked up Dr Li and she seems very well qualified. I have known a couple of people diagnosed like you were and it was correct. Bulbar can be tricky especially when umn dominant. She may be of the belief that pls and als are just on a continuum and also that a diagnosis of ALS vs possible pls will give you ssdi medicare eligibility if you stop working

before your next appointment do a bit of digging into trials that might interest you. Clinicaltrials.gov has a good search function where you can narrow it geographically as well as recruiting and not yet recruiting iamals also has a clinical trial listing on their website.

of course you are worried about your loved ones. This disease is so hard on everyone involved

 

[Pauliguy]

I was having speech problems for over a year before being diagnosed with ALS. I woke up one day in March 2021 with a weak left hand. In May 2021 I was diagnosed with bulbar and classic/spinal ALS. Early on I would choke on my own saliva and would bite my tongue. I have seemed to adapt, I rarely bite my tongue and only choke a few times a day now, though my speech is deteriorating weekly, and it is hard to use my left hand for routine tasks like tying shoelaces. Some days I only use my right hand when typing. I am still taken by surprised every day when I talk and how poorly I sound. I have to give lectures via Zoom every once in a while, I can only imagine what others are thinking. I have not looked into voice banking, I don’t like how I sound, especially now, so maybe I can pick another voice with a French accent when the time comes. All in all it is not affecting my life too much since I can adapt (can’t surf anymore so I surf kayak). My mental state is still positive, so I feel very lucky. I don’t focus on the daily loss, but the present and future. There is always something to look forward to.
Riluzole
Sodium phenylbutyrate, TUDCA
Radicava

 

[ColleenMarie]

Thank you for your response! My husband grew up surfing as a kid in California (we are both from California) and that was always his favorite thing in the world. We live in North Carolina now so the surfing is not easy to reach or good enough often. I am glad you still Kayak, stay positive and look forward to new things, focus on what is present, the future. That is the way to be. That is incredibly important. I am still in the shock phase of this where I am trying to figure out what I do, how I cope. I love to travel, to hear music - we were always active. So, of course I need to see how I manage. When you were diagnosed with Bulbar, did they base that on physical exam, reflexes mostly? Everything I have done has been normal thus far. It seems my diagnosis was based on the office visit - brisk reflexes, tongue strength. I have had to push for a genetic test and to ask for other things. It felt very shut and closed and I think our nature is to continue to question, to learn and then do our best with what is available. I started Riluzole and it is making me super tired! I have had some weird stuff - like the feeling my tongue was burned for example (this was before the medication). It is hard to find stories of what others experienced, progressed, how they feel - what helped them the most. This Forum is incredibly helpful. I am still working and busy, but I would need to find a support group along with this one. I had hoped on my next visit to hear more about any clinical trials that might accept me. Any tips you have with bulbar, I appreciate them. Talking was always a big part of my life growing up. I come from a French-Irish family and story telling was part of our lives. Having my speech fail is so hard on anyone of course, but I feel this loss as it resonates in the family history as well. Do you take any supplements, do you exercise your mouth?

 

[Nikki J]

I am sorry if your doctor is not proactive. You absolutely do not need to wait for them to tell you about trials. You can research them yourself. Clinicaltrials dot gov has a search engine and it will show the main qualifying and disqualifying things there. The usual disqualifiers related to ALS are length of time from symptom onset 2-3 years being common and breathing greater than 50-60%. Ability to swallow pills often. And not taking any experimental meds or supplements for 30 days prior to interview. Other medical issues may be an issue too

i would look at the Healey platform trial and any phase 3 except amylyx. Not amylyx because I think there is a decent chance it will be approved and Healey and other trials have said it would be allowed in addition to the trial drug if it becomes standard of care.

let me know if you need more guidance on this

 

[Nikki J]

Healey has weekly update webinars On Thursdays register here Welcome! You are invited to join a webinar: Weekly HEALEY ALS Platform Trial Webinar. After registering, you will receive a confirmation email about joining the webinar.