New AIP treatment in the works?!?

22 05 2013

I got an interesting email yesterday. It’s really technical, but here’s the exact text, straight from the American Porphyria Foundation:

Alnylams Pharmaceutical presented data on their new AIP treatment at the recent International Porphyria Congress in Lucerne Switzerland.

In pre-clinical models of the human disease, they demonstrated RNAi therapeutics targeting ALAS-1 can completely block the abnormal production of toxic intermediates of the heme biosynthesis pathway that cause the symptoms and disease pathology of AIP.

They expect to identify a final development candidate by late 2013 and advance ALN-AS1 into the clinic in 2014. ALN-AS1 is a subcutaneous RNAi therapeutic targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of acute intermittent porphyria (AIP), an ultra-rare genetic disease. ALN-AS1 has the potential to be a therapy for the treatment of acute porphyria attacks, as well as a prophylactic approach for the prevention of recurrent attacks.

To view the presentations from Alnylam and Dr. Robert Desnick’s Mount Sinai team, see below: Note that Protect the Future doctor, Dr. Makiko Yasuda, made the following presentation on the Mount Sinai research.

http://www.alnylam.com/capella/wp-content/uploads/2013/01/Desnick-AS1-PorphyriaCongress-May2013.pdf

Alnylams presentation:

http://www.alnylam.com/capella/wp-content/uploads/2013/01/ALNY-Porphyria-AS1-Pres-May17-2013.pdf

Visit the Alnylam site and read details of this exciting news:

http://www.alnylam.com

Now, what I think this means, is that a new treatment, that happens to be some sort of subcutaneous device (?) can treat an attack more effectively than hemetin and glucose, and when used as a preventative, can provide two weeks or more of protection against triggers. I come to this conclusion after reading through the PowerPoint presentations and, while I’m no doctor, I’ve been around a lot of them lately. And I think I’ve picked up some of the foreign language they speak, known as medicalese. It’s a difficult, awkward, overly-verbose and nonsensical language, often scribbled illegibly. If you have more experience with this highly coded and secretive language, and better understand what the hell those PowerPoints are saying, please do share.
But, if I’m correct, and I think I am (wink wink) then maybe this means an end to weekly infusions in the future? Maybe it means every few weeks, I can just go get a little injection or something? That would be… Life-changing. Huge.
I’ll keep you updated on any more news about the study as I get it.





A girl at every port…

17 05 2013

So I’m home and re-ported now! The surgery went well. I was at least not awake this time. (I’ll have to share the story of getting the infected port out with no sedation next post…)
I know the staff of IR (interventional radiology) well now, thanks to a cranky old port that required quite a bit of… intervention. So I felt pretty comfortable going into it this time. After some back-and-forth with the anesthesiologist about which drugs we could and couldn’t use, we landed on a pretty simple plan.
In the freezing cold theater of IR (I came prepared this time with wool socks,) he started me with a hefty dose of fentanyl to take the edge off. It made me relaxed and friendly. We were all besties there for a few minutes, me and my anesthesiologist and nurses. I shared my hopes and dreams, funny stories, embarrassing stories, dark secrets, and promised to name my next child after them all. Then he gave me the actual anesthetic and that was that.
I woke up asking for more of it.
I remember them telling me it’s what killed Michael Jackson, see why he liked it so much, hahaha… Geez. Glad they didn’t mention that little nugget of trivia before sending it into my bloodstream.
I felt good and woozy for a whole, then the pain came, so they generously dosed me up with some toredol and morphine. After an hour or so of laying around and nibbling gluten free pretzels, I decided it was time to go. I stood up and promptly decided it was in fact not time to go.
There it was… The sea legs and double vision and nausea and floppy muscles.
I’m home now and still a bit woozy, but I’ve managed to eat something decent, but the morphine has worn off and my chest and neck hurt like a bitch. I forgot how bad this hurt the first time! It absolutely sucks folks! Good thing I have a cabinet full of narcotics, which I’ll be dipping into momentarily.
Before I go, I leave you with a treat. They removed the picc line after surgery was over (they used it during surgery instead of starting an IV.) And pulling a picc seems so closely related to extracting a giant blackhead, so Eric couldn’t resist taping it for your viewing pleasure 🙂 Click here to watch it.
Enjoy!

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Well, then.

13 05 2013

It seems I’ve committed the worst of blogging sins. I’ve started and stopped and started and teased and stopped.

Here’s the thing, folks. Two kids, a crappy computer, lots of weird moves and shuffles in life, and the blog hit the back burner. I’ve thought of it often, and I’ve been asked about it and I get comments every now and then with questions from readers, and I’m always like “one day, I’ll get back to that!”

And a year later…

My last post was a year ago.

My next-to-last post was a year before that.

Oops.

If you’ll have me, I’d like to tip-toe back into this space. But maybe in a different way?

I like to write. A lot. But your time is precious, and so is mine. And you don’t have time to read epic-length blog posts, and frankly, I don’t have time to write ’em.

But I’ve had so many, many relevant experiences and thoughts and ideas in the last year, and I’d really like to be sharing them again. It’s cathartic to me at the very least. And it’s potentially helpful to some of you.

So let’s try again, K?

Here’s the quick rundown since my last post: That illness I spoke of last? Yeah. Resulted in 4 nights in the hospital, with an attack, step throat, and a staph infection in my bladder. It was SWELL. But the hospital let little 5 month old Esther Pearl stay in the hospital with me, sleeping in my bed, with no interruption to her nursing schedule, Eric in the pull-out chair thingy next to us, so it all worked out ok.

Then life went all roller-coaster on us, and we ended up moving to Alexandria. For Eric’s job. That told him he HAD to move or he’d lose his job. So we lost our house to not lose his job. Then he lost his job anyway. And we were stuck in Alexandria, in what felt like The Most Expensive City In The World in The Most Expensive Apartment Ever.

So that was fun.

(He found a new job after a few months, and he’s doing great now, and we moved out of that dumb expensive apartment and to a more rural area of western Northern Virginia in a great big old stone house with swings and a big yard and a marsh and a creek. It’s all good.)

So, I was ok-ish until spring of last year. Specifically Mother’s Day 2012. The day porphyria came to visit. It apparently decided I needed a Mother’s Day vacay, so we checked into the hospital, porphyria and me. We stayed for 4 days or so. In the end, it was all worth it: The hospital gave me a lovely little Mother’s Day gift of some decorative ceramic measuring spoons from Pier One. Win!

A few months later, in August, another attack slammed me out of nowhere. (OK… Not exactly out of nowhere, but more on that later.) This time, it was my birthday! Weeee! Four nights that time. But again, as with the Mother’s Day gift, the hospital pulled through with gluten free doughnuts stacked up and topped with whipped cream as a special “cake” for me. Even though I was too busy puking to eat it, I was pleased as punch, as it was the first time in YEARS I didn’t have to make my own birthday cake.

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My special birthday cake concoction on the left. A regular, glutenous chocolate cake on the right, that they threw in for my visitors. I was told it was the worst cake ever in the history of cakes.

So then on New Year’s Eve, which was also our 5th wedding anniversary, porphyria was all “Oh? Another special day we can spend together? Let’s hold hands!” I woke up New Year’s Eve morning thinking I was going out on the town with my groom-of-five-years. I ended New Year’s Eve in the ER with yet another FALL RISK bracelet on my wrist, pumped full of fun mind-altering drugs, aiming for the little bean-shaped vomit caddy the hospital so generously provides, coming up for air to tell my date (Eric, of course,) stories about the orange children’s chairs floating in the corner of the room. Yep.

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Eric took this in between vomits. It was a very fleeting, drug-induced, shit-eating grin. In my head, in that moment, I was probably telling off the imps who kept shaking their little butts in my face. It was a weird night. Pain+Delirium+Narcotics+Fever+Dick Clark’s NYE Special on TV= Weird Freaking Night.

That one was almost a week in l’Hotel l’Hopital, thanks to a very special strain of the Flu From Hell. Not only was a pain pump not keeping up with the ninjas punching me in my stomach, but I couldn’t breathe without some O2 assistance to boot. It was, by far, the scariest, most horrible hospital stay yet, thanks to some serious incompetence on the part of the hospital staff (to be discussed later) and some serious asthmatic behavior on the part of my lungs.

And last, but not least, to round out this last year of getting to know porphyria all the more intimately, I was yet again invited to be a guest of the hospital for 5 days, thanks to an infected port. That was a couple of weeks ago. The port was yanked (without sedation and with very little pain medication, by the way; A really fun story for another post!) IV antibiotics were administered in the hospital for five long, boring days, a picc line was put in, IV antibiotics were continued at home (mostly by my six year old daughter) for another 2 weeks, and now that I have absolutely no sign of flora or fauna or bacteria or fungus or elves in my system whatsoever (thanks to 2+ weeks of shooting powerful antibiotics straight into my veins,) I’m allowed to have a new port put in, which happens this coming Friday.

That’s where I am with this. Two years in a nutshell.

I’d love to share more with you about each of these ordeals, and what I’ve learned (and not learned,) but not here, not today. I’ll feed you little bites, yes? We can do this snippet by snippet.

And when the bullshit explodes like it does, I’ll give you play-by-plays in realtime! No more playing catch up. How does that sound? (Friday should be good, y’all. Watch out! Should I live-Tweet the surgery???)

Don’t be mad at me for disappearing. Let’s just pick up where we left off. Pretend that year didn’t go by. And get ready for some more me!