just officially diagnosed with FALS

[Dylan]

My symptoms first started in November. I noticed some muscle fasciculations on my left thigh. At first they were persistent, then I didn't notice them as much for a month or so. I was very worried, as we have a long history of ALS in my mothers side of the family. We visited my father over christmas and my fasciculations kicked into high gear. So I went and saw my primary doctor when I got back, who then referred me to a neurologist. He did a physical exam and sent me in for MRI's and blood work. By this time, my left hip and quad muscles showed weakness. I came back a few days later and did a EMG test. The neurologist then told me the bad news, I have familia ALS. The same disease that took my mother in 2001, her father and his brother, her grandfather, and many cousins and extended family members.

I'm 35 with a beautiful wife and 2 amazing young boys ages 3 and 5. While I know there's not a cure. I'm going to fight with everything I can to slow or stop my progression. So far, I've just told my closest family members. I plan on telling some good friends next week, as it's really hard to keep answering the "how's it going" questions. Currently I'm still only weak in my hip and quad, but have had fasciculations spread to my right leg, left arm, stomach, and back. I'm walking fine, but feel it, and my left leg does get tired. I've recently noticed I have a hard time lifting my leg high, and I can't run well.

I've been around the disease with my mother, as I took care of her for the last year of her life. I know what to expect, but I just hope my progression isn't as fast as hers was. I've talked with doctors and searched the internet time and time again for all things that seem to slow progression. I'll be starting Riluzole tomorrow.

I'm interested in trying Methylcobalamin injections, medical cannabis oil, creatine, and anything else that may work to slow progression. I've read through many of the threads, but there is so much information going so many different ways. I look forward to learning and sharing with my PALS here. If you have any advice for me and my family, or on the above methods, I'd love to hear from you.

Does anyone know if there are pharmacies compounding 50mg methylcobalamin injections in the US?

 

[Nikki J]

Welcome and terribly sorry. Do you know your gene defect? There is a gene silencing trial for sod1 enrolling now. I am not sod1 but if I were I would be begging ( and traveling) to enroll.
Certainly there are compounding pharmacies that will do methylcobalamin. If your neuro does not have a source to recommend start looking for them online. Comparison shop for price. My neuro tried three and the third had a price less than 1/2 the others. They can ship to you ( refrigerated overnight). My pharmacy does ship to other states but not all and probably not cross country

What else to try? We all have our theories. If you search for supplements you will find some threads.

 

[Dylan]

Thanks Nikki. I do not know my gene defect. Do you have any information about the trial that you can share with me?

 

[Nikki J]

It is open to people who are documented to have the sod1 defect. There is also an arm for people with sporadic disease but you could only get in if you had a positive test for sod1 as you are fals There are a number of defects identified now sod1 accounts for about 20 percent of FALS. The most common cause of FALS is C9 orf72. I encourage you to get tested. As I said gene blocking for sod1 is in current trial. C9 is in development. Aside from that I think if you are trying supplements knowing your defect may help you tailor your aporoach and down the road there will be preventive treatments for any relatives who are gene carriers. They will need to know what the defect is to take advantage of that. https://clinicaltrials.gov/ct2/show/NCT02623699?term=Amyotrophic&recr=Open&state1=NA:US:MA&rank=7

 

[Atsugi]

Welcome, Dylan. Sorry to see you here. Looking forward to hearing about your successes with supplements.

To answer the question "How are you doing?" For most of us, it's usually a rhetorical question that deserves only "Fine. Thanks," for an answer. But for the people who are asking out of concern for your health, I think there are two kinds: First, most folks feel they must ask the question, but they really can't stand the answer, so a brave "I'm great!" satisfies them. The rest of the folks really care; but honestly, what information could you give them that would help them in any way? So you might just say "As well as can be expected. Thanks for asking," and let them go on their way.

By contrast, if you actually needed something, or if you really wanted to talk something out with them, you could initiate that conversation yourself.

 

[lgelb]

Welcome, Dylan, and sorry for your many family losses and your own situation. We will support you however we can. Definitely agree w/ Nikki that you want to find out your specific defect.

As for condition reports, we didn't do either "fine" or "great." For us, they would have diminished the burden that even the uninformed should know, for this disease to get the public understanding that we deserve. Best case was "OK."

I always found, "It's a progressive disease" to carry the reminder fairly efficiently, and that is probably the key fact as you begin disclosing your diagnosis (along with the information that it is fatal, for those who need to know). As time goes by, and you are saying that to more people, you can always soften it with a "but we had a great trip to the botanical gardens yesterday," whatever. You might also want to consider what you want to say to people who ask how they can help.

I am fairly certain we have other members in Bend. You can search on that if you are so inclined.

Best,
Laurie

 

[BillH]

Hi Dylan. I'm from a fALS family also. So sorry to see the progression at your young age.

I second what Nikki said about seriously considering getting tested and identifying your family gene. We know ours and a number of my cousins are participating in study projects. Good luck with the supplements/Riluzole.

Two of my brothers live just out of Bend in SR. One of my cousins lives in Bend. Small world...

 

[KimT]

Dylan,
I'm going to give you my two cents. If I were you I would immediately get tested and then seek out any open trials. I would travel, if necessary.

 

[Dylan]

Thank you all. I didn't realize I had so many replies. I've been so busy doing research, doctors visits, and planning a family vacation... I haven't checked back to this thread. In my family research, I did just find out that my family has the SOD1 gene mutation. I also found out that a distant cousin recently passed away with ALS, the first in my generation. He passed within 6 months of diagnosis. But it sounds like he didn't try anything to slow it down. He just let it takes it course. The disease continues to strike about 10 years earlier from one generation to the next.

I'm currently on Riluzole, daily 25mg/ml methylcobalamin injections, medical marijuana oil (high CBD's low THC), creatine, and a few supplements. My biggest change has been my diet. I've completely gotten rid of processed food, processed sugar, and gluten. I've been eating a ton of organic leafy greens like spinach and kale, lots of coconut oil, organic fruits, nuts, and wild game. I've been trying to eat a high calorie, high carb, but very nutritious diet. It's still early in my progression, but I feel like something is working. I don't feel any weaker than I did 2 months ago. This disease tends to run very fast in my family, as most die within 18 months.

I just found out that I'm in the SOD-1 club. I'm going to contact the clinical trial right now and get that process started. Thanks Nikki and everyone else for the comments and suggestions!

 

[Nikki J]

Good luck with the sod1 trial pray you get to try it. When you say you found out you were sod1 do you mean you were personally tested. If you were not tested yourself contact your neuro asap for the test. I think you need that documentation of your own status to be in the trial and the test takes a few weeks for results I think

 

[Dylan]

Good luck with the sod1 trial pray you get to try it. When you say you found out you were sod1 do you mean you were personally tested. If you were not tested yourself contact your neuro asap for the test. I think you need that documentation of your own status to be in the trial and the test takes a few weeks for results I think

I was not tested. But my mother and her cousins that have passed were. I'm asking if I need to be tested in my email to the contact for the clinical trial. I'm hesitant to get tested, as I hear it can cause issues with life insurance. I'm looking into it further. Thanks again for the advice Nikki.

 

[KimT]

Dylan,
Where are you getting your MB-12? Do you know if it's preservative free? I started a thread on MB-12 sources if you would reply there.
Thanks,