28 03 2014

Here I go, blogging on a stupid iPhone. But I’ll do it, this once. I’m feeling a strong pull to get some things out of my heart and into the world. (Maybe one of you blessed readers will send me a pretty computer in the mail to replace the one that a toddler decided to explore and destroy, thus allowing me to share with you in a manner that doesn’t drive me crazy from typing on a phone screen. A phone, people!)

I’m at a pinnacle of sorts. On an edge. A razor’s sharp, shiny edge. One wrong move and I fall hard. Or slice myself right down the middle, from crotch to head? Maybe that.

I came home from the hospital again seven days ago from yet another week-long stay. I’ve stopped writing about my attacks because I doubt they’re interesting to anyone anymore, yeah? But for those of you keeping track, it was a grand total of something like 7 visits (totaling about 48 days or so?) in 2013, and 4 so far for 2014. Each incident brings a new complication, becomes a little harder to treat, requires more intervention. I lose energy, momentum, will, dignity, modesty each time. My body doesn’t feel like mine anymore. There are no more private parts. After as many catheters, monitors, enemas, scopes, and cameras as I’ve had stuck in and on my body, there is just no room for propriety any longer.

I’ve gone through being unresponsive with only 4-6 breaths per minute, prompting the rapid response team to race to my bedside. I’ve laid perfectly still and remained calm while they told me they were about to administer a drug to stop my heart, in the hopes of resetting it and breaking it from the pattern of supra-ventricular tachycardia it was stubbornly racing through. (Feeling your heart straight-up stop is terrifying and exhilarating and I’m almost inclined to recommend it.) I’ve experienced moments of searing nerve pain so excruciating that all I can do is beg the nurse to rip all the clothes off my body, so I squat on the bed naked, minimizing anything coming into contact with my skin, and cry, because no medications stop nerve pain. I’ve watched blood splatter out of my mouth during moments of violent hurling, from the gashes burned into my esophageal track after such constant illness. I’ve had two ports yanked out, and three put in, because after several months of hemetin and dextrose they gunk up and stop working, essentially threatening my dripped-in promise of life.

And these attacks have, for the most, fallen into a neat little pattern. About four days before my period is to start, I usually feel the first twinges of pain. Usually less than 48 hours from that point, I’m hooked up to my machines and pumps and I’m struggling to post squinty smiley pictures on social media to assure everyone I’m fine.

Seeing as the attacks are following such a tidy calendar, the obvious (to many) conclusion is to eliminate that calendar. Take away my cycle. Treat me with hormones. I started talks with one of my doctors, who happens to be a smart, quiet, funny researcher from NIH for whom I have a great deal of respect and fondness, about just this a couple of months ago. In my mind, we were talking about birth control pills (or a shot or IUD or something,) to stop Lady Flo in her tracks. But In his mind, we were not discussing birth control at all.

We were discussing menopause.

Dr. NIH wants to give me a hormonal therapy that will send me into post-menopausal hormone levels. He dropped a few printed pages of a study done on the treatment for AIP, and said “This is what we’ll do. Find a gynecologist to work with and we’ll get stsrted.”

Just like that.

As though facing menopause at 33 is something I shouldn’t take issue with. Sure! Let’s shut the ovaries down! Dry that silly uterus up! Gain weight! Get hot flashes and mood swings! Kill what libido remains after 5 years of chronic illness! Make sex painful and difficult! Get wrinkles and saggy parts! Turn old, now!

Of course it may not be quite that extreme. And I don’t mean to be offensive to women who are menopausal! (I’m being hyperbolic here because I’m sort of panicking, obvi.) I’m not one to say that I’m dreading menopause, WHENEVER THAT MAY NATURALLY HAPPEN.

But y’all. I’m 33. I’m not 100% sure I’m done with my baby making! I’m feeling (other than sick and exhausted and beat-down,) pretty bangin and confident, actually. I’d like to sit in this third-life space for a while, experience my thirties as a 30-something year old. Not having to worry about significantly increased risks of lady-cancers (I already have a greatly increased risk of liver cancer to work with,) with crazy-times mood swings and even less energy that I have now.

Maybe I’m making too big a deal of it .

Maybe I should do it and shut up .

Maybe I can’t.

This has literally stopped me in my tracks. Reading through the study has not encouraged me, with only about a 25% rate of good results, out of only FOURTEEN WOMEN , one of whom died… But if I don’t, then I am selfishly robbing my family of the opportunity to not lose their mother/wife/teacher/housekeeper/meal-maker/laundry-doer monthly to serious illness and recovery.

I don’t know what to do. Obviously I have more research to sift through, but it’s hard to come by, and no clear answers are going to glare at me from the pages of study summaries . I have a strong feeling that my decision will ultimately be made from my gut. The one that bleeds when it’s upset with me. My heart. My silly heart that beats too fast and too hard and needs round- the- clock monitoring at times.

This is the beginning of the end of living in denial for me.

You see, I truly have been in denial since I was diagnosed. You may not think I have, but I have. Each time I experience an attack , I think it’s the last (you’d really think I’d have caught on after the 12th or so hospitalization…) And I have a deeply buried belief that I am responsible for being ill, that my symptoms are not some disease that I innocently inherited through no fault of my own, but that are manifestations of my own poor decisions and sins. And that porphyria wouldn’t rule my life if only I didn’t let it.

It’s time to face my life head-on now. Either find a way to live peacefully with the disease , or find the fortitude (and energy and money) to fight the disease. I think there are merits in both. Validity in wanting rest and surrender and passivity, and validity in not wanting to roll over and settle for this as a way of life.

Which way will I go?

It’s time to make some choices.



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.

Alnylams presentation:

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

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.

So, that’s where I’ve been….

15 05 2010

So my worst nightmare became a reality.

I had an attack.

While pregnant.

It started a couple of weeks ago I guess. Really, the second I found out I was pregnant, I started feeling shitty. But that’s pregnancy, right? I figured fatigue and nausea were par for the course, and even though I was getting hit harder than I did with Adelaide, I figured it was because I also have porphyria, and maybe it would just be a little more intense.

But then there was the pain.

I remember feeling a little crampy with Adelaide, and being freaked out by it. But this time, when the cramps turned into exercises in deep breathing, I scoured the internets to assure myself that cramping was perfectly normal in early pregnancy. Some is, of course. But not lots. So I thought, well, maybe it’s a UTI. I’m no stranger to those. And it’s pretty common to get bladder infections in pregnancy. So that must be what it is. Yes. UTI.

I went to a Patient First, and told the doctor that I had AIP, was about 7 weeks pregnant, and was having pelvic pain, but no bleeding, and I needed a urine culture. He promptly replied, “What’s porphyria? How do you spell that?” Great.

Culture came back clear as could be. But he said that the symptoms matched with a UTI, so why not try an antibiotic anyway? The first one he suggested was a big two-red-triangle no-no on the porphie unsafe drug list. So he panicked, and rather than rationally and calmly decide on the next best thing, he threw a bottle of amoxicillin at me.

I never took it.

I downed cranberry pills for the next several days, and convinced myself that the pain was easing up. It wasn’t really, though.

By this past Thursday, queasiness had turned into full-fledged nausea, and even a little vomiting, which I still tried to attribute to being knocked up. I took Adelaide to her homeschool co-op, and couldn’t eat because I was so nauseated, and I gritted my teeth through the morning, still in denial that the pain was bad bad bad. By the time we left school, I was so miserable that I cried the whole drive home.

I emailed my hematologist a couple of times that day. First to say that I was freaking out a little about having such strong pregnancy symptoms that were so perfectly mimicking porph symptoms, to which she replied that she was sure everything was fine, and we’d kick up the glucose infusions if we needed and if worse came to worse she’d suggest some pain meds that were safe during pregnancy.

Then I emailed to tell her that taking any pain meds made me really uncomfortable, and I’d rather get hemetin, since it’s “just” a blood product, and not something with neurological effects. She went along with that.

Then I emailed to tell her I was going to the ER because I give up.

So Thursday night, Eric drove me to the Bon Secours ER facility in Harbour View. The plan was to waltz in, announce that I have porphyria, am pregnant, and in increasingly severe discomfort, and required an immediate glucose drip and another urine culture for a UTI, and that I would NOT be accepting any pain meds.

I don’t know what I was thinking.

I did waltz in and do all of that, and explain to several clueless nurses what AIP is. And then the PA on duty swaggered into the room and said “So, when you were in the ER last fall, they were considering celiac sprue. Have they abandoned that idea?”


“Uh, I have porphyria. I need glucose.”

“Yeah, well there’s really no test for porphyria, so you can’t really know if you have it.”


“Uh, yes, there is. And I have it.”

“No, those tests come back with false negatives and positives all the time, so you can’t pay much attention to them.”


“I’ve tested positive twice, and I have Acute Intermittent Porphyria Type II. I NEED GLUCOSE.”

By the way. As for those tests. I looked up my hospital records from my attack in the fall. The preliminary urine tests they ran look for two things that would point to porph: ALA and PBG levels. A normal ALA range is 0-35, and my level was 157. A normal PBG range is 0-8.8. Mine was 130.  hmmph.

So, this was the first time I’d ER’d it since my diagnosis, and I always figured that in the event I needed emergency care, the docs would be glad that I was so educated and absolute about what I needed. I never guessed I’d have to prove to them all over again that I have the freaking disease.

It was obvious to me that this guy saw “porphyria” on my chart and googled it real quick. He ran his own battery of invasive, offensive tests, but as I continued to bombard him with AIP information and medical lingo, he sort of lost his resolve and finally gave in and admitted that I needed a push of glucose. Three hours after I arrived.

So then shift change happened, and doctor number two came in, and I had to do the same thing all over again (although, he was a little quicker to accept my story.) But by that time, I was in really severe pain, with a kickin headache, and I was really, really trying everything I could to get through it without meds. I had an ice pack strapped to my head and was rocking back and forth, trying to get in a trance. And crying. I cried a lot. I finally asked for some tylenol, which doc told me was perfectly safe during pregnancy (I don’t think I ever took any with Adelaide,) and it helped take the edge off the headache. Just enough to let the excruciating abdominal pain really shine through.

So doc starts trying to convince me to take something stronger. He told me that he used to work as an OBGYN, and that opiates are considered perfectly safe during pregnancy. He told me that, in fact, heroin is an opiate, and that moms who use heroin throughout their pregnancies give birth to perfectly healthy babies.

I had a feeling that his idea of healthy and my idea of healthy are two different things.

But after agonizing over the pros and cons of being in severe pain and distress, versus taking an opiate that medical science claims has no effect on a fetus, (and after thrashing and screaming and sweating and not being able to meditate through the pain anymore,) I gave in and accepted a 10 mg morphine drip.

He also recommended an antibiotic drip, since there was a tiny bit of bacteria in my urine, and he told me that UTIs are really dangerous in pregnancy, so treating them is essential.

After these two drips, the pain calmed down, and the puking began.

I puked all the way home, and all through the night. The urinary retention kicked in, too, so every 10 minutes I was on the toilet, pushing little squirts of pee out while Eric did pee-pee dances for me.

The next morning, I woke up and puked. Eric took Adelaide strawberry picking, which had been planned for a week and she was totally excited about, so I didn’t have the heart to tell her she couldn’t go. They came back with big smiles on their faces, and a huge bucket full of bright red, big, juicy strawberries. And red lips.

Eric tried to get a little water/food into me, but I promptly rejected even the most trivial amounts of anything that went in. I entered the puking-up-bile stage, until I was all empty of that, too, and just dry-heaved the rest of the afternoon.

I went to the hospital for my infusion of hemetin and glucose. Again, deciding to get the hemetin was heart-wrenching. There have been no studies on the effects of it on a pregnancy, and it’s recommended that it be avoided by pregnant women, save for only the most dire of situations.

This was dire alright.

Normally, in an attack, I’d get four doses in four days of the hemetin, but my hematologist was not comfortable with that. She only let me have one, in the hopes it’d give me the boost I needed, and we’d follow-up with lots of glucose.

So I knew it’d take a day or two for the hemetin to make any difference, and I went home to suffer. I told Eric I was absolutely NOT going to take any more pain meds, and that he’d have to just help me through it.

But he and my mom couldn’t deal with watching me writhe. My mom decided to get a hold of Jennifer, who was my palliative care nurse when I was hospitalized last fall. On the phone, she first tried to convince me to head to the ER, where I could receive pain meds under supervision. But I told her about my less-than-impressive experience the night before, and adamantly refused to go back. She understood. So she talked me through my options. She explained that receiving the 10mg drip in the ER of morphine was equivalent to about 30mg orally, so if I took 10mg orally at home, it wouldn’t knock me for such a loop. And we sort of hashed out the risks to my unborn that come along with me being in severe agony and distress and anxiety. That’s almost as bad (if not worse) than a chemical. (In fact, another pregnant mom friend of mine had recently told me of an article she read about a study showing that high levels of anxiety are more detrimental to a fetus than alcohol consumption. So we decided we should start a new trend of drinking up. For the sake of the baby.)

I gave in and took a 10mg of my liquid morphine, and it was the perfect amount to take the edge off the pain, let me rest, and not send me into complete lala land.

Rinse and repeat.

I think I took three or four doses over the next couple of days, and each time, I had to have my arm just about twisted off. Eric had to keep reconvincing me that I was making the right decision.

I’m still not sure about that. But what’s done is done.

I got three infusions of glucose this past week, and I’ll get three more next week. It’s not fun. It’s 500 grams of sugar being pumped into me over the course of 30 minutes. I leave the hospital feeling like I could lift cars, and then crash and burn an hour later. Only to then crave massive quantities of cheesecake and ice cream. Sugar is addicting, did you know?

But the pain is 100% gone. The nausea is mild, and what I’d associate with typical first-trimester gunk. I’m tired as hell, but there are ways to deal with that (like plopping Adelaide in front of the TV so I can nap. Several times a day.) Oh, and in the ER, they did an ultrasound of Babo, who appears perfect with a healthy heartbeat. And single. Thank god.

So I’ll raise my glass of sugar water to getting through that, and may it be the only time during this pregnancy I have to go through it. No more drugs for Babo!

Calling all vampires!

12 04 2010

I forgot to tell you all about the phlebotomy thing.

So, for whatever reason, getting the hemetin infusions, while good for controlling porph attacks, can also increase hemin levels (duh, right?) which means too much iron. High levels of iron can lead to an attack, and I was even told by my hematologist that she’d like me to stay on the “slightly anemic side.”

So, only a couple of weeks into the treatments, my iron levels were too high (of course, because it’s me, and why wouldn’t they be?) (And also, phtthtthtth to all you people who think that my being vegetarian means I’m a walking medical journal entry for anemia.)

So, when the iron is too high, the way to remedy that is to bleed me. Yep. Take the blood right outta my veins. Stick the leeches on and let ’em go.

Not really leeches.

The nurse used my port, rather than an arm vein, and was supposed to take 20 viles, but could only get to 17 because the port got all backed up with clotting blood.

And here’s what all my blood looks like.

mmmm. bloooood.

Yep. There it is. Just chillin on the table. Ready for the ol’ garbage can. Which I felt totally guilty about, by the way, since there was a patient RIGHT NEXT TO ME getting a blood transfusion. I felt so dirty, like I was burning dollar bills in front of a homeless person or something. (My nurse told me that years ago a patient who got regular phlebs would take the blood home in a plastic freezer bag and use it to fertilize his roses. But hospital regs have since changed and they won’t let me take mine home to fertilize my roses. I asked.)

Yeah, I almost fainted when it was done. Not because of the blood loss. But because of the freaking blood loss. Seeing it all just sitting there in tubes on a table…. It was so strange. Blood is life, you know? I watched it pour out of me and fill up tube after tube and I wondered if they were going to leave me with any, and I sort of symbolically felt my body collapse a little, like it was sinking in on itself. Like a beach ball with an air leak.

It’s a very surreal experience, a phlebotomy. Lucky me, I get to look forward to more!

I have to admit, it was made all the more interesting by the fact that I was, at the time, reading through the stupid Twilight series, and I couldn’t help but note all sorts of dumb irony: the timing of my decision to read my first ever vampire tale (and a lame one, at that,) having my blood sucked, having it sucked because of the disease I have, which is responsible for the myth of vampires in the first place… It’s all just stupidly too much. Seriously, I think I’m growing fangs. Right now.