Shandra
Forum Replies Created
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The beach is my favorite place to be. Yeah it’s extremely difficult and exhausting to get on and off of it (because i am a person that still walks but cannot independently on sand) and the beaches where I am mostly have stairs and no accessibility. I do a lot of butt scooting and if I’m with someone I hang onto them for dear life lol. But that feeling of being in the warm salt water? It’s like nothing else. I actually just bought a new go pro and chest mount, so maybe I’ll make a POV video sometime of how I make it to the ocean 🙂
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My iPhone flashlight is my very best friend. I have a walker but that really doesn’t make a difference, I NEED to see
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The last time I ran decently enough to call it running was 10 years ago, and I remember I was filming a “How to Be a Ninja” video for YouTube because that’s what all the cool preteens were doing (lol). The last time I moved my body at a pace quicker than walking but in a manner that looked really worrisome and not really resembling of running was a year later (after my spinal fusion) when I was trying to ding-dong ditch my parents so its totally on film, and…yikes hahahaa
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Hahahahaha! I don’t think my legs are long enough bc I’ve never had this problem. I always clip my ankles. Its like when we had razor scooters, but far less enjoyable.
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It’s definitely speeding up. 🙂
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I 100% don’t think it’s something to put all hope in. There are much more exciting things in development 🙂 but this might end up being a drug that works alongside another drug to alleviate some of FA’s progression (synergistic benefits). That would be exciting while we wait for something that really targets the root of the problem. And since we have nothing right now, that’s awesome!
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Matt that’s so cool omg. Like, REALLY cool. 🙂
Have you tried contacting the study team? I’m positive they could give you proof of your FA. They probably still have some of your blood in a -80 freezer lol.
Technology has definitely improved though and therefore if you just did a new test now they could actually give you your repeat numbers (instead of a presence/absence diagnosis). It’ll cost you though, even with insurance 😐 …Like Chris said you’d just need your neurologist to request it.
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I’m so excited about this. Great things come from collaborations and easier access to data. This is basically a pipeline for FA researchers everywhere. 😀
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Based on their presentation at CHOP in October, I’d say UF is the farthest along. And based on press release it seems like Votager isn’t too far behind. I know nothing about the other companies, beyond the fact that they have an FA gene therapy project.
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The Moxie trial is not gene therapy. 🙂
I really like the way FARA breaks down drugs into categories in their treatment pipeline (link if interested, but I’ll explain: http://www.curefa.org/pipeline )So the various drugs in development take different approaches to helping us. ANYTHING that could help is exciting, but some things are obviously more exciting than others in the long run.
I’ll reference the FARA pipeline by color. First there’s something I like to call symptom bandaids. These drugs don’t fix FA, but instead they go after certain symptoms. Takeda, for example, helps your cerebellar neurons communicate better, so it is designed to improve coordination despite FA’s damage. It’s like cough medicine. You have a cold and cough meds won’t fight your cold, but they will relieve you of a symptom of your cold.
Then there are drugs designed to help the cell manage FA’s damage (red). Omaveloxolone (Moxie) for example, makes your body fight oxidative stress better. Oxidative stress is a part of the damage done by FA. It’s like being armed with a hose when the stove is on fire. Your cells can deal with the fire instead of letting the whole place be burned down.
Next are drugs that affect the protein we don’t have enough of, Frataxin (green and yellow). Etravirine is in this category too. To follow the last metaphor, these drugs help deal with the reason the stove keeps catching fire, so it stops catching fire. This one is tricky because some things work better than others at raising or stabilizing Frataxin levels. But if the stove stops catching fire, your body can divert its attention to fixing the burnt house.
Gene therapy is the most exciting thing to me. First of all, we have 6 different companies working on it. At least one is set to begin trials on us this year. Gene therapy involves a harmless virus that is loaded with a functioning copy of the Frataxin gene. This virus then “infects” your cells with the healthy Frataxin gene. With that, your body can make its own Frataxin like a normal person. In other words, you’ve just gave your stove the part it was missing so now it won’t catch fire again. Your body can go work on restoring the burnt house.
CRISPR is years off, but has the potential to be exciting. With that the repeats in your DNA can be cut out, so your own Frataxin gene becomes normal. That’s basically calling a skilled repairman to thoroughly fix your stove so it can never catch fire again. This will, like the others, allow you to fix the burnt house and move on.
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I’ve been going every Tuesday now since the start of the semester (mid-January). I joined the climbing club at my school. No one in the club has a disability but they were super excited that I wanted to give it a go.
Before starting I had no idea if I was going to be able to do it. I still walk but my peripheral sensation is almost completely gone. I can’t feel my feet/lower legs really and I have no idea what they’re doing unless I look at them. After my spinal fusion I lost my upper body strength to the point where I can’t even do one chin-up. I went to the first meeting with limited expectations and surprised myself. After 3 attempts I had climbed about 3 feet off the ground. I was relying on my upper body to climb (my feet wouldn’t stay on the holds) and I definitely felt it afterwards lol. I was sore for a week and a half but my arms felt stronger. The next time I went, it felt easier. I could pull myself up easier and felt more comfortable taking risks (reaching for holds that seemed too far). I also learned to modify my stance. Normally you’re supposed to step on the holds with your tip toes. I started putting the middle of my foot on a hold so the whole inner side of my foot would be resting on the wall. They slipped off less that way, so I started putting my feet on as leverage while I’d host up my body. Each week I felt stronger and would make it higher up. On week 5, I made it to the very top!! It feels so awesome and my technique and abilities are definitely improving. Now I’m going to work on scaling this route faster and moving to harder routes.
Climbing is for everyone. I’ve seen videos of completely paralyzed people using entirely their arms! I’d recommend everyone tries it 🙂
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I can’t tell if I have FAtigue or if I’m just being overworked because of grad school. It’s probably both, lol.
I’ve never had coffee though… I don’t like the idea of relying on an external source of energy. My thoughts might change over time hahaha, but for now i just try to rest when I need it and stay as active as possible so I don’t have time to acknowledge that I’m tired.
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Great article!!! I love both of ya 😀
Also it’s funny you chose the word steadfast. Was that intentional (referencing the Steadfast/Actimmune trials for FA)?
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Omg, for the longest time I’ve thought “there must be a link here”! Like almost every FA’er I’ve ever talked to, I exhibit sleep behaviors suggestive of REM behavior disorder (walking, talking, moving etc…). I remember when I came across this paper I was even more convinced. I hope someone out there will do a study on FA sleep someday soon so we can find out once and for all.
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That’s really cool!! Thank you for sharing 😀
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I think at such a young age it is very hard to look so far ahead and be comfortable. I know when I was diagnosed (age 12), all I wanted was someone to relate to. I remember searching online and there wasn’t much of a social presence of young people. I wasn’t ready to actually talk to someone but I wanted to see young people living their lives I guess. Luckily nowadays that is very possible. I think the absolute best thing you can do is give them the resources to make friends once they’re ready. Another thing would be to tell them about all the cool things you’ve been able to do since connecting with the community. I would recommend the FARA instagram page as well as two youtube channels: https://www.youtube.com/user/madelynfrederick by 19 year-old @madelynfrederick1 and https://www.youtube.com/channel/UCCz_G1BoreXR4Oy2ZyOO5hA by 15 year-old Kate Walker. Tell their whole family about connecting with FARA and events near them. I know you want to give all this good positive advice but I think going into it like that won’t impact them as much as just knowing they aren’t alone out there!
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I doubt they have data on this that is shareable at this point. If animal studies have been initiated then I suspect any suggestive data is too preliminary and it’d therefore be irresponsible for them to share.
The in vitro studies suggest a dose-dependent increase in Frataxin and the patent gives them the rights to test up to 600 mg daily in adult patients. Obviously BEFORE this goes to clinic they’d need to line up adequate safety data on such a high dose. (So anyone reading this, please do not try that dose…) And there may be a plateau in therapeutic benefit at a lower dose. More doesn’t always equal better.
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Basically, the research group that discovered Etravirine’s potential has filed for a patent giving them the rights to develop/test this as a treatment in FA patients.
Since etravirine is already a drug on the market, it is claimed by someone for use in HIV. In FA, no one owns Etravirine, so theoretically any company could start clinical trials with it. This patent makes it so the researchers responsible for the discovery have the full rights to develop the clinical trials and one day (potentially) bring it to market and profit off it.
Looks like they filed this in September and it just got published last week…its a big step in the direction of human trials with this!
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Hey Rich that is a great question. Obviously the mechanism of why Etravirine affects Frataxin regulation is unclear. So it makes sense to wonder if it could affect gene therapy. If you took them at the same time, it might. But you wouldn’t be taking them at the same time.
Etravirine isn’t a one-and-done drug. HIV patients have to continually take it for that reason. The half-life of the medicine is about 41 hours (give or take 20). So in other words if you stopped Etravirine right now, it would 100% be out of your system within a week at most. When gene therapy comes to trials, you will be cleared off anything that could even potentially affect the efficacy of it. Etravirine only acts in your body for a few days, so if you stop taking it before getting gene therapy you should have no issues!
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That’s cool! Can anyone joining the WhatsApp group still post any updates here though? I like the forum for many reasons–including that the information people share is available for anyone to see 🙂
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Hi Chris! While the trials are ongoing I can’t speak to my individual experience as that could disrupt the clinical trial process, however I can say that the published results from the Part 1 trial showed 3 months of treatment with the active medication led to neurological improvements (measured by FARS) equal to reversal of 1 year of FA progression!!! I am excited to hear the Part 2 results from the longer trial.
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That’s exciting news Ous!!
I love hearing everyone’s updates. I’m hoping to hear from the researchers soon about what their plans are for further scientific investigation. It takes a long time (months) to get a scientific paper published. So while we only heard about the results in mid January (when it was published), the scientists responsible have been aware for quite awhile now and are therefore probably well-underway in further research. I’ll keep in touch if I hear anything!
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I love rock climbing too!!!!!!!!!!!! The feeling of accomplishment is just indescribably amazing. I second what Kyle said about trying it! (My new years resolution was to go weekly too 😀 )