[Jonathan]

I dunno. I mean, I don’t like exercise, but I like its results. And the beach is this big beautiful… thing. I have this delusional attitude that this beach was made for me. It’s my beach. I try to respect that fantasy by tolerating a few difficulties. It’s a weird psychological thing. When I do the hard stuff, I get rewarded — both chemically and spiritually.

[Jonathan]

Beaches are doable with a scooter or chair, but it really depends on the sand. Most beaches have too much soft sand, which isn’t wheel friendly. Here in Daytona Beach, the sand is almost always packed down hard and tight. Vehicles drive onto it and park. My scooter easily rolls down the beach ramp and onto the sand. It also rolls through some wet sand/surf, but I have to be careful.

I can’t really swim, but I’ll still get in the ocean. There’s a few annoying factors to overcome, though:

1. Park the scooter far from the watermark.
2. Dismount and make a far crawl to the water.
3. Wave away folks who think they need to help me.
4. Make peace with the fact that afterwards, I gotta make that long crawl back and I’m gonna be covered in sand.

But anytime I overcome those mental obstacles (it’s 90 percent mental), and I submerge my head under a small wave, I feel powerful. It’s beautiful.

[Jonathan]

I didn’t read it all. My mistake…

“…the method comprises administering to the subject one 200 mg tablet comprising etravirine twice daily and wherein the subject is 6 years to less than 18 years of age and weighs greater than or equal to 30 kg.”

[Jonathan]

Section IV describes factors for dose (e.g, age, weight, health, etc.).

[Jonathan]

A patent was submitted back in September to treat FA via Etravirine. Therapeutic dose of the drug (which none of us know) has demonstrated to increase frataxin protein precursors, its intermediates, and mature form (i.e., it increases proteins that could become frataxin, it increases proteins that are about to become frataxin, and it increases frataxin protein).

If somebody is curious enough, write a BRIEF email to one of the authors in Italy asking what they suspect a therapeutic dose might be.

[Jonathan]

Do NOT get injured trying to measure these abilities! 😛

[Jonathan]

Gunnhild, can you stand without any support (from devices, furniture, walls, etc.)? If so, how much time (e.g., 2-15 seconds before falling or reaching for support)? Can you take any steps without any support (e.g., 2-5 steps before falling or reaching for support)?

[Jonathan]

Gunnhild, I really appreciate all that you’re sharing — it’s exciting! You mentioned that your diagnosis was at 31, so my guess is that your ataxia symptoms became apparent in your late 20s. You’re 40 now, which is at least 10 years of late onset progression. 1. Do you recall your triplet repeat numbers from diagnosis? 2. Do you rely on anything like a cane, walker, or wheelchair? Thanks!

[Jonathan]

Ilva, thank you for the update. I recommend folks read her blog entry. A few things that interested me…

1) Your personal experience sounds very encouraging. I’m especially interested in how speech and visual control is affected.
2) You mention something like training the body should accompany the drug’s use. That makes sense.
3) You’re diabetic and use insulin, but haven’t for 4 days because your blood sugar measures close to normal. Has this ever happened before etravirine? I ask because this might be the only hard data you might collect from your experience, and I know diet affects blood sugar measurements. Has your diet changed?

Thank you.

[Jonathan]

Basically, he said the experiment should be replicated with FA heart cells and FA nerve cells.

[Jonathan]

“…I was wondering if the people taking it are documenting the effects they feel? Like photos/videos.”

I want to suggest collecting data via a 9 Hole Peg Test (9HPT). It’s simple. Basically, get a baseline measurement by timing it with no drug. Record the time. Then after taking drug for a week, re-test. Record the time. Repeat. Maybe do 10-12 tests. Do NOT practice between tests.

Gunnhild, would you?

[Jonathan]

Those results are awesome. And now for two uncomfortable problems…

1. In the United States, 60 tablets of etravirine (a single month’s supply) is roughly $1500.

2. Even if I can convince my doctor to prescribe it, I highly doubt insurance will help pay for it (unless I’m diagnosed HIV+).

[Jonathan]

Gunnhild, what dose are they using and is it more than once per day? Also, on what exact date did they begin?

[Jonathan]

Yes. Shandra, would you mind uploading Lynch’s response to that Google Drive and posting a link to it?

[Jonathan]

The full articles are in PDF format which can’t really be posted in the forum.

[Jonathan]

LOL, yeah, so old.

I’m glad FAN pub’d it. Patients should see it. Although, and this is me being honest but critical, the author should write in a manner that his audience can easily understand. Break it down (even the methods and materials) into plain language because most patients and parents (etc.) aren’t science students.

[Jonathan]

Parenthood is supposed to be scary. It’s serious work and sacrifice. It’s so scary that some folks avoid it (even after conception). I don’t do it alone, though, and I wish that for every family. My son Leo has a devoted mother — my wife.

And insult me? LOL, in my home, we use words like cripple and don’t hide our dark sense-of-humor. I think it’s a healthy way to cope with the weirdness of ataxia. He knows what’s not appropriate in public, though. Sure, he makes fun of me sometimes, but I laugh with him. His impressions of my slurred speech or crooked movement are good. It’s harmless stuff. And I won’t act like a pansy.

[Jonathan]

My son (10) is my little helper. He’s only known me to use a wheelchair or scooter or to crawl around the floor/ground. He’s aware of my obvious limitations by now, so he helps me by fetching things, assembling my scooter, and pushing it if it gets stuck in the sand. I don’t think he quite understands yet my risky heart issues. He’s sensitive and gets scared when I attempt something dangerous.

Because I collect disability income, I’m a stay-at-home-dad (SAHD) and he stays at home too (mostly) where I practice teaching him (i.e., homeschool). Besides academics, I emphasize certain values. I try to show him that, despite ataxia, I can be strong and mentally tough. So I try to encourage the same mentality…but I probably push too hard some times. I don’t want him to develop a habit of making excuses and avoiding fear or adversity. It took me years to overcome that myself.

We spend nearly every waking minute together. And he’s watching me. Every single day. Really, though, what I show him, I’m showing myself. Knowing his eyes are always there reminds me to do what I say he should do. I have to lead by example. His development is a serious responsibility. And with any responsibility, you get a sense of purpose and meaning. He keeps me sharp and from growing useless. He gives my life direction like a compass. In parenthood, Friedreich’s ataxia is just a decoration.

[Jonathan]

When you do, please share details!

[Jonathan]

Yeah, even Dr. David Lynch wrote an opinion about it the day after the research was published. I hope he and FARA can expedite funding to arrange further research.

[Jonathan]

I don’t have any experience with the drug. This research is just in vitro, and sure, FA cells were used, but the cells weren’t from heart or nerve tissue. I’d like to see the experiment repeated with those cell types.

If the results remain encouraging, then skip mouse models (which really aren’t good FA models anyway), and move onto patient trials. In those trials, an appropriate dose can be determined.

Until then, dosage is a mystery. And etravirine isn’t without its own risks.

[Jonathan]

I’m registered with PubMed, which I think is now called NCBI. I get email notifications anytime research is published using the keywords “frataxin” or “Friedreich’s ataxia.”