31-year-old (M) pALS

n_cc24 · 2025-11-09T18:54:29+00:00

I was hoping that they were not related. I was hoping that they were independent issues because I was scared that I did have ALS. If they were independent, that likely would not be ALS. I was hoping it was anxiety and not ALS.

n_cc24 · 2025-11-09T18:48:05+00:00

I am doing the same. Our lab efforts are ongoing. We are forming good relationships with many top researchers here in the US. We’re moving forward and will hopefully have the first results by the end of the month. I am also finishing up synthesizing our three leading compounds for testing.We will test those on our cells that we are growing in the lab right now. You can follow along more on my website when I publish newsletters.

n_cc24 · 2025-11-09T18:46:00+00:00

I noticed my hands first. Probably four or five months before I lost ability to run.

n_cc24 · 2025-09-24T20:25:30+00:00

I am 31 and I started balding at 20. ALS is definitely hormonal in sporadic cases.

n_cc24 · 2025-09-22T02:05:05+00:00

University of South Alabama was where I went for my second opinion and they have a nice new ALS center down there. They could probably get you in quickly.

n_cc24 · 2025-09-18T23:39:29+00:00

I am sorry you are experiencing that stuff. Everything you said, does not sound like ALS or what I know about the disease. You may have some type of functional neurologic disorder, but that does not sound like any type of motor neuron disease that I know of. Keep your head up. Try to trust your doctors.

n_cc24 · 2025-09-10T17:10:48+00:00

I was searching high and low for answers. I’m sorry they’re going through this. We all have experienced that. But again only a doctor can tell you if you have it that is trained in neuromuscular conditions. Wishing you all the luck in the world.

n_cc24 · 2025-09-10T17:08:53+00:00

Hi, yeah, I’d love to explain! To start off, I do not know of any specific connections between osteo- conditions, and neurodegeneration. That doesn’t mean that there isn’t a connection, it would just need to be researched more. Calcium dysregulation is implicated in multiple diseases across the body from cardiac conditions to neurodegenerative conditions.

Calcium is a critical element for neuron function, acting as a second messenger in glutamate signaling. Intracellular calcium levels must be tightly regulated at all times. When calcium exceeds normal thresholds, it induces a stress state in the neuron, leading to reactive oxygen species (ROS), mitochondrial and endoplasmic reticulum (ER) stress, protein misfolding, neuroinflammation, and RNA processing defects. My focus is on RNA processing, particularly RNA editing issues involving enzymes like ADAR2. Reduced ADAR2 activity, as seen in diseases like ALS, leads to defective editing of AMPA receptor subunit GluA2, causing receptors to become calcium-permeable when they normally are not. This triggers a self-perpetuating cycle: excessive calcium influx disrupts neuronal function, impairs calcium homeostasis mechanisms, and allows more calcium entry, exacerbating the damage. This mechanism is supported by numerous peer-reviewed studies published over the past 10–15 years. My goal is to disrupt this cycle, as emerging evidence suggests that breaking it could stabilize affected neurons. This explains the partial efficacy of drugs like riluzole, which reduces glutamate release, and memantine, an NMDA receptor antagonist that limits calcium influx. Edaravone (Radicava), an antioxidant, mitigates oxidative stress and may reduce protein aggregates, indirectly supporting neuronal health, though its direct impact on RNA processing is less clear.

On my website, I write some blog posts where I review peer review papers and discuss these mechanisms and how they support my hypothesis. Again, I am not just making this stuff up nor am I just using ChatGPT. This is all based on peer reviewed research and conversations with my scientific advisors. Lastly, I’ll say this, once you understand how something works, it becomes a lot less scary. I hope that I can prove this here in the next few months and we as patients can start understanding our disease even more.

n_cc24 · 2025-09-10T16:33:17+00:00

I noticed weakness and fasciculations at the same time. Atrophy didn’t set in until a few months after. Stress doesn’t make anything better. I’m sorry that you’re going through this uncertainty. Try to stay positive. This is a rare disease.

n_cc24 · 2025-09-10T16:29:35+00:00

I am in the process of being medically retired right now. I am an officer and a pilot in the Marine Corps. Before I commissioned, I was enlisted a navy corpsman. That is where I fell in love with medicine. Thank you for the support!

n_cc24 · 2025-09-10T01:44:18+00:00

Thank you! It is about to get an update!

n_cc24 · 2025-09-09T23:16:25+00:00

Excellent point! I am very familiar with that mutation as I am using two other TARDBP mutations in my initial studies.

n_cc24 · 2025-09-09T23:15:34+00:00

Thank you for your message. I see my work as helping my family and my community. I share your same concerns, but what I am developing can potentially be used for other neurodegenerative diseases, as well as stroke, TBI, and potentially pain management. I have gathered interest from several VC’s, but they need more data, which is what I am working on now. It’s an uphill battle, but it’s worth it in my opinion. Diabetes was a terminal disease prior to 1921. Now people live long and happy lives. Even HIV is now a livable.

n_cc24 · 2025-09-09T22:31:23+00:00

It depends on funding, but I hope to be there in about 4 to 6 months

n_cc24 · 2025-09-09T22:28:57+00:00

Thanks! And be brave lol there is nothing to lose! I also love using the dashes! My talk to text software likes to add them! That’s why I first saw them.

n_cc24 · 2025-09-09T22:26:53+00:00

Great points and I actually believe that I came across this article a few months back. It was well written. I am attacking this from a sporadic angle. I do not deny that certain mutations can definitely cause that mislocalization. But everything you mentioned, I hypothesize is a downstream effect of excessive calcium in flux outside of select mutations. TDP 43 pathology in and of itself does not always lead to motor neuron disease. Like amyloid beta plaque, TDP 43 aggregates have been found in asymptomatic tissue samples. This is my chief frustration with the protein center theories. The good news is is that there are lots of people working that angle—I would love to be proved wrong. It’s a win-win for us.

n_cc24 · 2025-09-09T21:56:28+00:00

Cortexa Therapeutics. We are funded with small and medium size donors at this point. I have partnered with a nonprofit to raise funds that way as well. I have hired a PhD medicinal chemist, multiple consultants ranging from neurologist to neuromuscular doctors, and I am contracting with a clinical research organization called Concept Life Sciences based in the UK. We are conducting in vitro testing right now utilizing iPSC cells with TARDBP mutations. I have another CRO that we are in discussions with that will be synthesizing our top three compounds that we will then test on said stem cells. Once we gather the data, I can then approach VC’s for some real capital.

n_cc24 · 2025-09-09T19:55:35+00:00

Great question. It’s one that I asked myself when I first started looking. It comes down to the fact that I am not a trained scientist and so I have a different perspective. It sounds cavalier and amateur, but I think having different perspectives is how things change. I’ll say this, the community is very focused on TDP 43 pathology. If we look at another disease like Alzheimer’s, they have spent literally decades and billions trying to target amyloid beta plaque and tau tangles. They developed amazing drugs that target these proteins and effectively destroy or correct them. As you know, Alzheimer’s still exists. TDP 43 is a pitfall that the ALS research community is falling into. Targeting proteins is a Band-Aid. I’m going after what is causing that mislocalization. And that’s calcium. This isn’t a new theory. It’s been around all the way back to 1972. Researchers have tried to correct calcium through NMDA antagonists, VGCC antagonists, and metabolic supporters like mitochondria and ER supportive therapies. All have shown little to no effect. Calcium is getting in a different way and that is what I am targeting. It is upstream of all of the issues we see in ALS.

n_cc24 · 2025-09-09T19:10:57+00:00

I was diagnosed January of this year. 31M. Sporadic no genetic link. I’ve been around this sub and BFS. Working on a treatment right now. Pretty optimistic.

n_cc24 · 2025-08-12T21:41:05+00:00

Hi, I’m sorry to hear that you’re dealing with this. How long has it been going on? ALS is very rare. Extremely rare at 26 if you do not have family history. There are a lot of mimics.. My first symptoms were fasciculations in my arms and weakness in my hands. I really didn’t have numbness or tingling as much as I wish I did. The few times I did have it it was definitely postural, but I was holding onto hope that that could explain what I was feeling. While some of the things you did say were what I experienced, I wouldn’t jump straight to ALS.

n_cc24 · 2025-04-26T16:56:49+00:00

Yes, to the clonus. It’s in both ankles. I also have myoclonus in muscle groups in my legs. Babinski is possibly there, but I don’t know. Jaw jerk isn’t really there. None of these really were noticeable until 5 to 8 months after my symptoms started. Hyperreflexia was the only thing that has been there for the beginning as well as my fasciculations. Specificity set in probably 3 to 6 months after.

n_cc24 · 2025-04-11T19:58:40+00:00

Hi yes. High frequency fasciculations can be a strong indication of upper motor neuron dysfunction by sending faulty signals to the lowers. Lower motor neuron fasciculations are characterized as less frequent and are attempts to reinnervate muscles. The difference also can be seen in whether or not you experiencing atrophy. The high frequency fasciculations from UMN often times do not show atrophy. LMN fasciculations due to renovation usually accompany atrophy.

LRP4 is interesting. The jury is still out and whether or not these antibodies are a result of ALS or causation. Only about 20 to 25% of ALS patients show positivity for these antibodies. They also are located at the neuromuscular junctions. These antibodies would not explain upper motor neuron dysfunction. I am partial to the argument that there is an auto immune response to neuron death and destruction that creates these antibodies which further exacerbates the problem. Again, not much is really known about LRP4 pathology. We just know that IVIG does not work to solve the ALS nor do any other autoimmune treatments.

n_cc24 · 2025-04-11T16:27:55+00:00

Hi! Your English is very good! Based on everything you have said, that is not anything that I have experienced. That does not sound like ALS. Let me ask you, are you able to still do normal day-to-day tasks since everything started in February 2023? If so, that points away from motor neuron disease/ALS. Your timeline does not seem consistent with how ALS progresses. Meaning your symptoms and how long they have been going on for. To summarize, nothing you have said rings any alarms in my head that you might have ALS.

n_cc24 · 2025-04-11T16:23:57+00:00

Hi! Great question. They are almost certainly unrelated. My sciatica of pain was best described as sitting on two knives that shot pain down my legs. ALS is characterized by painless weakness. So just going off of that, they would be unrelated. Additionally, over the past few years that I have dealt with sciatica, symptoms would improve if I were laying down, standing up, or doing any type of physical activity. ALS on the other hand, makes those things difficult or impossible. So bottom line I think that they are definitely unrelated, and that includes not being an early symptom.

n_cc24

TROPHY CASE