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Member Check In (pALS, caregivers, and other community members)
Good morning – (Florida time :))
I wanted to do a check in with everyone this week. How are you doing? Are you struggling with anything ALS or non ALS related? How are you dealing with the pandemic? What are you doing to support your mental and physical health?
What is the best thing to happen to you this week?
Did you do anything interesting over the summer/past 3-4 months (depending on where you live of course.)
Amanda
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42 Replies
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Good morning!! I set up the lumbar puncture (Intrathecal) for the pre-fALS study for October 26th. I’ve opted out of this procedure for the past 12 years of the study, mainly out of fear. It is my understanding that the sample they get from spinal fluid is much clearer than from blood work. Also, since the therapy coming out of this study is an Intrathecal drug administration, I figured I needed to put my fear aside and get comfortable with it.
I’ve been watching the tropical storm activity closely because I live in SWFL. I’ve lived in New Orleans in the past as well as other parts of Florida. I’ve seen the damage mother nature can do so I follow along during hurricane season and try to learn about weather and how things are changing.
I hope everyone is having a good day and finding something to enjoy!
Amanda
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> I set up the lumbar puncture (Intrathecal)
I am not a religious person, nor proficient in English, but I thank you for your dedication to the search for an ALS cure.-
Thank you Jean-Pierre! I had a long time fear of needles, but since I started volunteering for medical research for ALS I’ve had to get over it :). It’s important to me and my family that they continue the research!!
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Bon jour Jean-Pierre. J’etudiais le francais et l’allelmand il y a 40 ans a l’universite. Et a 63 ans ca marche encore!
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Bonjour David,
Votre français est excellent!
J’ai toujours aimé l’anglais, mais l’école ne m’a pas beaucoup aidé à ce propos. Par contre l’attrait pour la science-fiction et l’activité professionnelle m’ont permis de m’améliorer en anglais. Mais l’anglais parlé en écosse me semble absolument insurmontable 🙂
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Good evening (UK time 17:36), I’m so happy to have received emails this week telling me I’m selected for the Wave FOCUS C-9 WVE-004 clinical trial and start 11 Oct with the first …… intrathecal injection. So Amanda, we can compare our experience of having needles stuck in our spines! What joy.
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Oh my gosh, I had to laugh out loud at your comment David!! Yes, we will indeed have to compare notes.
Congrats on being selected for he Wave FOCUS C-9 WVE-004 clinical trial!! I don’t know much about that so I’m going to start reading up on it. Do you have any links you can share. Good luck and please keep us posted.
Amanda
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Studie Wave FOCUS C-9 WVE-004
Mit dem WVE -004 dieser Studie In Deutschland Uniklinik Tübingen da warte ich schon Monate drauf. Ich glaub langsam da wäre ich lieber in die USA da wäre das schon gelaufen.
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Studie Wave FOCUS C-9 WVE-004
Mit dem WVE -004 dieser Studie In Deutschland Uniklinik Tübingen da warte ich schon Monate drauf. Ich glaub langsam da wäre ich lieber in die USA da wäre das schon gelaufen.
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Glucklicherweise wohne ich in England und die Professor Pamela Shaw studierte mit meiner Schwester. Mein Doktor wusste nichts von diesem WVE-004 Prozess. Ich selbst habe eine E-mail nach Prof Shaw gesendet, nachdem ich sie an einer Radiosendung gehort.
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hello David
I would be so happy if I received the FOCUS C-9 WVE-004 therapy in Germany University Hospital Tübingen. Would get. Please report what happens after the first injection.
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Hi…I’m in nova scotia canada…the east coast so I follow the tropical storms too….my daughter got married in July so we had a great time with that in our backyard…I notice I am more short of breathe lately but other than that I’m taking it one day at a time…I really enjoy reading all the updates and forums…thank you
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Good morning Sandra! I hope your daughter’s wedding was beautiful and enjoyable for you and your family. I lived in Newfoundland when I was a child (Navy Brat). We even had a Newfie dog!! I bet July was a great time there for a wedding.
It looks like there is a new hurricane brewing out there. It was TS 18, but it’s been named (can’t remember the name). It seems it will steer clear of the US, but I’m not sure about your area. Stay safe, warm and dry!!
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Anyone else want to chime in on how things are going? This is a nice way to get to know each other a little. I’m enjoying hearing about how others are doing.
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I got the kids back in school and activities, finally have some quiet to regroup.
Fired my medical providers, it was kind of mutual and organized a new team.
I am now only going to go to Cleveland Clinic except for local PCP. My first visit went well but they were clearly confused by my medical records because they are a disaster.
Needles!! I am scheduled for yet another EMG next month.
Just trying to stay and stable as possible.
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@Mark! How are you feeling with the new medical team? Bravo for taking charge of your own medical treatment and pursuing a team that is better suited for you! I wonder if many people just “go with the flow” when they are faced with rare illness such as ALS. I could understand since it is all so overwhelming.
Stay positive and keep us posted on how your new team works out and how they approach things for you. I just posted another discussion topic on medical visits that you might have some thoughts on.
Amanda
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I am trying to be optimistic, but first visits are often ok. It’s the follow through that matters.
Often, taking control is seen as Dr shopping or worse Dr Google.
Its hard to break through the stigma but Cleveland Clinic has the best culture and work ethic I have seen. They are much better at communicating and access to medical records. Their note was the most comprehensive I have seen. That takes a lot of time.
Patients and Drs speak different languages, I wrote them to discuss what I see as a misunderstanding.
IMO neurologists have advanced tech like scans, but when they are using physical exams, they are 100 years out of date relying on 1890 Babinski evaluation. It is crude and cannot pick up subtleties.
I spent my whole life on my neurologic function (multiple head injuries as child) and was a perfectionist. We have very different views on what is “normal”.
Anyway I wrote them a note to try to start from a place of, I really need your help, and please listen to my experience and expertise. I know my body better than anyone ever should. I hope it helps me and the next person they see.
This binary gulf between “organic” and “functional” —-neuro and psychological has got to go.
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Update.
I got a note back from neurologist and she agreed that it is hard to untangle symptoms and we will try to address neuromuscular first.
This is the correct answer.
I also had 1st meeting with a psychologist and he was empathetic and attentive. He admitted the Neuro was out of his realm but we can work on the emotional chaos.
Again the correct answer.
Hyper-reflexia and pseudobulbar affect is the inability for nervous system to filter out minor inputs. A simple touch shouldn’t make you jump and the Baby sitters club shouldn’t make an adult weep.
This inability to control responses to minor “stressors” when you previously had no issues is not a “psychogenic” issue. It is a clinical symptom.
I shouldn’t have to explain this to the head of an ALS clinic..
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Mark S,
My neurologist prescribed Nuedexta for the pseudobulbar effects. Â It helped me with the inappropriate crying. Â It is hard to swallow, but does come in liquid.
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Thanks.
I do think there are meds that help, but Drs won’t treat symptoms. And I worry care will get even more delayed if symptoms are less.
I was taking zanaflex for muscle spasms but didn’t like the side effects. They wouldn’t try baclofen after I quit.
There are multiple possibilities for treating fatigue and I’m on nothing.
I know it’s a broken record, but my care is horrible.
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Spot on. When my feet (in socks) touch the ground my legs jump higher than I can raise them. And if I recount any item with a hint of emotional content I start weeping.
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When I was a treating people, especially when treating a person’s head/neck I would know it was working because I would get a single tear or two. An empathetic sign of release. I never really cried even when with a dying person. I felt I had to maintain that equipoise and it was not hard.  I really only wept when my mother died in my hands.
Again I tried to explain this.  When a person tells you something is new, it is new and relevant.
Obviously, those with more advanced illness know this and maybe it helps to get validation you are not alone, but what is really important is that those at the beginning are cared for appropriately.
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Congratulations David Crellin! And wish you the best!
I was also so scared of lumbar puncture when my neuro had suggested, but it was absolutely painless. Here is my experience: There was a nurse who prep me for the procedure, and they first examine the lumbar spinal region on x-ray and see what gap (e.g. L4/L5)Â is best, then apply a local anesthesia, and while looking at the screen, push a very fine needle in the gap, and make me lie on side, and collect the CSF (which is coming out on its own, since there is some fluid pressure). Once they collected amount of fluid they needed, they just put a small bandage. During the whole process, I was talking to the nurse and did not at all feel any pain. Need to rest for a few hours lying on back to recover, went back home in about 4hrs.
In your case it is injecting, other parts of procedure may be almost similar.
Wish you all the best!
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Thanks so much. I have a phone conversation booked with one of the nurses tomorrow to discuss the process and ask any questions.
My wife had a spinal block when our first son was born, and she shares your experience of the absence of pain. I had a malignant melanoma removed from my arm under local anesthetic while I watched! So I’m not over worried about intrathecal and injection.
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I have the trial info sheet now:
Period 1 (phase 1b?)Â five lumbar punctures with one intrathecal injection over 12 weeks.
Then period 2 (phase 2a?)Â potentially up to 4 intrathecal injections with an additional monitoring lumbar puncture over 24 weeks.
I hope it’s as painless as you suggest. Having watched as a malignant melanoma was cut out of my upper arm, and last week as needles and a scalpel were used to take a skin sample from my lower arm, I think I’ll be OK.
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That is a lot of lumbar punctures. The old protocol was to lay flat for a while and limited movement for a day or so. It was thought to reduce risk of CSF leak, or low pressure headaches.
Meta research shows that advice doesn’t have any data behind it.
That said, my advice is take it easy, try to rest (don’t be quick to get off the table) and don’t ignore headache if you have one after. Call the team and let them know.
CSF leaks do happen and sometimes need to be treated with what’s called a blood patch. They inject a little blood to create clot around LP site.
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I wish. I have to ‘move around and be physically active by standing and walking for 30 minutes.’ That will be a challenge!
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I don’t like being active for 30 minutes after breakfast, much less a LP.
Is that part of protocol?
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No pain at all. Whoopee!
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Glad to hear that!! Would you please keep us updated how you feel / improve on any symptoms?
Wishing you all the best!!
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David – the lumbar puncture was painless?? Seriously??? Wow! That is so awesome. How are you feeling now?
Amanda -
David – the lumbar puncture was painless?? Seriously??? Wow! That is so awesome. How are you feeling now?
Amanda -
David – the lumbar puncture was painless?? Seriously??? Wow! That is so awesome. How are you feeling now?
Amanda -
David – the lumbar puncture was painless?? Seriously??? Wow! That is so awesome. How are you feeling now?
Amanda
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Hi, I spoke to my neurologist about Amylyx AMX0035. She explained that it’s not FDA approved so it’s not available. But if I was really interested, there is a compounding pharmacy that would mix up the drug constituents to make something very similar to AMX0035. However, the downside is that since this is considered an experimental drug, insurance will not cover it, and it would cost about $500 per month. I decided it might be worth the price to try it for a while at least. A pharmacy technician called (spoke with my wife as I’m completely nonverbal) to setup the delivery and explained it was a liquid to be taken orally twice a day. Several times he warned my wife that it’s really bad tasting. I wasn’t deterred by the warning figuring I had tasted my share bad tasting medications, and how bad could it be.
I had no idea that it was possible for something to taste so bad! It made me gag, I couldn’t spit it out fast enough! On top of that it seemed to stick in my mouth, no amount of rinsing my mouth seemed to help! I couldn’t imagine how I’d ever be able to swallow this medication! My swallowing is compromised so about a year ago I had a feeding tube put in. I use it to supplement once a day and eat 2 meals normally. I thought I would just pour this liquid medication through my tube. This works but causes some complications, it tends to plug my tube. I need to use a syringe to clear it. I discovered a weird property of the medication, when it mixes with even a little bit of water, it turns into something like jello or soft wax. Plugs my tube and explains why I couldn’t rinse it out of my mouth!
It’s too soon to know if it works yet but I’ll let folks know how it goes.
Karl
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Hello everyone – does anyone have bulbar ALS which I have? I would appreciate your thoughts on this and thank you!  Janice West
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I will start by saying Amanda your picture is so pretty. Yesterday was a good day for me. I received a check from ALS foundation to help with some improvements for me. I bought a chair that wasn’t supposed to come until February. It’s coming tomorrow. Ive been very uncomfortable so this will help a lot. I start Radicava next week. My insurance is paying for it. I feel like someone is looking out for me. I want to thank everyone here. I feel supported and more courageous.
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I see i wrote this on my caring bridge today:
In music, practice and rehearsals prepare us for the performance, in the audience’s eyes but in life, especially handicapped, it’s always opening night … try not to fall on your ass unless it’s in the script.
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Hello all – I will get stem cells this year. They really worked well last year. They took the pain away. I’m glad I moved to NC 2 years ago with my eldest son, Mike. Jan West
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Janice,
Where do you get stem cell treatment in NC?
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Hi Janice,
I was diagnosed with bulbar ALS in June 2020. What specific information from others with bulbar ALS are you seeking?
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Recently I have been grieving because of all of the losses in functioning that happen with ALS. When there is no hope of getting better, that’s very difficult to deal with and accept. The reality of it is just shocking and overwhelming.  I try to do things to take my mind off of it but those are temporary distractions. Staying strong is very challenging.
On a more positive note, I just got back from going to the beach with my mom for five nights. It was nice to get away from home for a few days and relax there.  I hope everyone had a good summer and thank you all for your support and encouragement.
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HELLO TODAY – I HAVE BULBAR ALS AND NEUROPATHY. I TAKE AMITRIPYLINE 50MG AT NIGHT AND IT HELPS WITH NEUROPATHY. I’VE ALSO TAKEN MANY SUPPLEMENTS FOR PAIN. DOES ANYONE HAVE OTHER IDEAS FOR PAIN. JAN WEST
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Hi Jan,
I also have bulbar ALS and take Gabapentin for pain.
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Amanda,Good luck with the lumbar puncture and thanks for being in the preFALS. They booted me when I did not test positive for any of the known familial mutations. My family must have a mystery gene. As for me I’m just living what I call my normALS life. Enjoying what I can surviving a couple of falls. I’ve quite the collection of stitches. Fresh off clinic visit today.
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> My family must have a mystery gene.
Then it’s a pity nobody is studying your family.The C9orf72 was a real mystery, while it causes half of the cases of familial ALS, it was found only in 2011, 18 years after SOD1 mutations were associated with ALS.
The reason it eluded researchers is that for them a genetic disease could only stem from a gene … and C9orf72 mutations were not on a gene but on something weird, that was thought as having no usefulness: A repeat expansion (HRE) in the non-coding region of C9orf72.
“Non-coding” means that that portion of ADN is not used to produce ARN, the blueprint that ribosomes will use to make unfolded proteins (that will be folded in the ER).
This is because since Crick and Watson nearly 50 years ago, every scientist is taught about the “biology central dogma’. It teaches that every genetic trait is caused by ADN.
Scientists know this is untrue since the 1970′ (see “epigenetics”) , there are even ALS drugs targeting epigenetics, like APB-102 from Apic Bio. Even the well known ASOs from Biogen for SOD1 and C9orf72 does not alter DNA, yet alter protein production.
However, the “central dogma” is still taught without being amended, epigenetics is still a dirty word for biologists. Leading to semantic aberrations such are denoting C9orf72 mutations in ALS as bing mutations on the C9orf72 gene.Other scientists created the notion of “RNA genes” for the effects of non-coding genes, even if the notion of a “RNA gene” is meaningless.
Unfortunately we are living in the prehistory of medicine and biology.
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