Health Update Time: It’s All Good… Well, Mostly Good!

Howdy Readers, Friends, Loved Ones.

Much like the President and his State of The Union, I feel like coming here and posting a big ole update about my health and where it stands is something I like to do, and I do on a sorta regular basis.  I mean, it’s totally as legit at the State of the Union, right?

I mention my health in passing, and for the sake of advocacy, understanding, and information – I like to be an open book.  It’s been more than eight years since my battle against Stage III Lymphoma played out publicly in college – but my own health issues and ordeals are not over.  In going through all of that in front of so many others, I realized that by being open, I was helping others.  So many people who’ve dealt with cancer have reached out to me, and I’ve helped how and where I can.   Yes, it’s in small and tiny ways, but good ways nonetheless.  So, when I can… I’ve been able to offer compassion, support, empathy, and love.  And now with my sweet ole blood disease, I am just doing what I know how to do: be a blabbermouth, and if anyone needs help, I’ll do my best.

I have porphyria.

It’s a blood disease.  It’s genetic.  There’s no cure, and you have it forever.

It’s complicated, weird, hard to explain, hard to understand – yes, it’s all of these things… but, it’s manageable.

By far the biggest, best, and most amazing breakthrough in my life as a person with acute porphyria was the DNA test I had done in Hawaii.  I know the exact mutation in my genetic code that causes the blood disease I have.  And if you think you’re special – allow me to trump you.  I am, to date, THE ONLY person to have ever been tested with this exact mutation.  Talk about ONE OF A KIND!

Now.  I know I’m not really all that unique.  The likelihood that members of my family share this specific mutation is very high.  We are likely a one-of-a-kind porphyria family.  And given how genetic diseases and mutations work, well it’s not really that fancy.

So… onto the good stuff:


I’m okay.  I’ve had some attacks lately.  Triggers-and-attacks is the cycle of my disease, with lovely periods of calm remission in between.  Triggers for me include stress, illness, medications of certain kinds, alcohol, preservatives, lack of sleep, and more. Around the holidays I was eating tons of processed meat and cheeses, which I love, but which are oh so bad for me.  Add to that the ole Santa Pub Crawl I couldn’t miss out on, and a lot of travel and staying up late, and well – I created my own little perfect storm, didn’t I?

At the Santa Pub crawl we held in Fredonia, much like the real giant Santa pub crawl that takes place in Buffalo every year!

at the santa pub crawl we held in fredonia, much like the real giant santa pub crawl that takes place in buffalo every year!

a totally weird and silly pic from that night

a totally weird and silly pic from that night

i did too much of this

i did too much of this

and delicious as it is, i ate way too much of this kind of stuff during the holidays.

and delicious as it is, i ate way too much of this kind of stuff during the holidays.

i stayed up all night while visiting my sister for christmas eve.  d'oh! i need sleep!

i stayed up all night while visiting my sister for christmas eve. d’oh! i need sleep!


I did.  I made some bad choices… and I payed up for it.  I felt pretty crummy for a good chunk of December.  I modified my behavior though, because I love my body and want to give myself the best shot possible.  Even though some choices seem tough in the moment, in the long run they’re important.

so i abstained from booze for the rest of the holidays, even christmas day and new year's eve!

so i abstained from booze for the rest of the holidays, even christmas day and new year’s eve!

outfit repeat, but really - here i am as the d.d. on new year's!

outfit repeat, but really – here i am as the d.d. on new year’s!

After a while of clean living and good choices, I seemed to have really pulled out of things.

at duggs' work's winter party - we had a blast, and i felt pretty good.

at duggs’ work’s winter party – we had a blast, and i felt pretty good.

I am feeling better now.  At last month’s visit to my docs, we adjusted my meds.  I am now happily on a new form of medication that I get through a patch.  Isn’t technology rad?  Since porphyria affects my liver and its enzymes and red blood cell production, getting meds into my body without bothering my liver is excellent.  Yesterday I went back again, and we tweaked the doses a bit, so once those get filled and I regulate out… I’m hoping my day-to-day will be even better.  It’s really nice to be on meds that don’t have so many long-term effects on me and side effects, etc.

I’m seeing a couple new doctors, too – and they are really wonderful and very committed to helping me get the treatment I need, when I need it.  I’ve just recently opened up the lines of communication with my local in-town doctor, so the next time an attack happens – I can get into a hospital nearby and get the IV treatments that help me stop an early attack in its tracks.  And now the meds I need, should a serious attack occur, will be known and available (in Hawaii, this was pretty serious – they didn’t have ANY of these meds on the island before I got there… eeks!).

Coming from the military system to civilian world of medical care has been… well, halting.  The expense of my meds alone was enough to crank up my stress to attack-inducing levels.  Finding the right meds, that my insurance will cover, has been a task.  It was pretty crazy there for a little while, but things are looking up for me now.  It’s also been hard to piece together a communicative team of experts.  In the military system, all my docs could see each other’s notes, save for my primary care – they were all in the same building.  So the convenience factor has shifted a bit, it’s been a learning process, but it’s getting there.  I am happy with the team I have now, and I trust their expertise and compassion – very much so.

Otherwise, nothing really new or crazy or wild to report.

I’m still me.  I’m still human.  I try and live life just as me, weirdo wacky Rose… and not as a person afraid to experience life and deal with the affects on my body.  It’s a balance though.  And in every attack I experience, I wise up about my triggers and the lifestyle choices I need to, and should, make to avoid bringing issues upon myself.

So, there you go.

I still have Porphyria.  It’s not going anywhere!  But, everyday I think I get a little better at navigating what it means for me and coping with it all.  And umm, I’ll give a shout-out to my handsome life partner, Duggs (my husband) because he’s been an awesome man to have by my side through all of it.  My whole family is very supportive, and once again – I find myself feeling very blessed to have access to competent medical care.

so this is the most recent pic i could find... oh boy, not so flattering, haha.  but as you can see, i look normal and i'm outside and being wacky.  so, life is good!

so this is the most recent pic i could find… oh boy, not so flattering, haha. but as you can see, i look normal and i’m outside and being wacky, laughing, etc. can’t really ask for more than that… so, life is good!


Thanks for reading!  And thanks for following along the wacky and weird and up-and-down journey that is my health.


HHR – Happy Hippie Rose

PS: Just because I share what I go through, please don’t think that my porphyria is all I am or all that I focus on.  I’m a real, breathing, dynamic person.  And since my health is something people who know me worry about… and by being open and posting about it publicly I can help add to the available points of view out there on porphyria (since there aren’t many), reducing stigmas and encouraging others to talk about it, learn more, and so on… I do tend to mention it more often online than I probably do in real life.  But it’s just like anything that’s in a persons focus – real, but only one part of a whole, multifaceted life.  

i’ve got an L422X on my PPOX, duh!

i’m officially, documentedly, DNA-testingly, ONE OF A KIND!

My Porphyria DNA panel finally came back, and with it came an official iron-clad diagnosis: I have Variegate Porphyria (VP).   And, the specific mutation sequence that I have been found to have in my genes, is the first of its kind ever discovered, ever tested in a lab!

the dna test report

there ya have it!

So what does all this mean? 

1.  It means that I actually know what’s going on with me.  Having a specific diagnosis is the best way to get better.  You can’t treat what you don’t know.  For years doctors have assumed, based on symptoms and simple biochemical testing, that I have AIP: Acute Intermittent Porphyria.  Knowing that I actually have a different type helps us (me, my hubby, my fam, my docs – everyone involved in my care) better assess, prepare, prevent and treat my exacerbations/attacks.

2.  This explains why my symptoms haven’t always meshed with the model of Porphyria that docs are looking for.   Because this version of porphyria is something never before discovered, who knows how different my actual case is than others within the family of the Porphyria diseases?!?

3.  This doesn’t just apply to me, this applies to all of my family members with the disease, as well as those suspected.  It explains why diagnosis has been so difficult (it’s very hard to diagnose porphyria anyways, let alone having a one-of-a-kind mutation of the disease). It’s most likely that the mutation I was discovered to posses, it the same genetic sequence/mutation that my family members have (so I’m not literally one of a kind, we probably all match, but still – we’re breaking the mold, as a family!  which knowing us… makes a LOT of sense).

So things are moving fast for me now:  My Nursing Case Manager and team of doctors and geneticists are working to get me to the mainland to see a specialist.    My emergency protocol has been updated, the to-do list of ways to prevent an exacerbation have been updated.

This is all great news.

This information will help me be able to get better, more specific care for myself, as well as for my family!  We’ll now be able to get into the elite clinics and be seen by the specialists (their criteria to see patients is pretty intense, since there are only half a dozen or so of them in the USA).

Having a finite diagnosis sets me free.  It gives me direction.  It helps remove the gray area.

It’s a little scary.  I kinda miss that ole “intermittent” in my diagnosis.  I liked the idea that it comes and goes and bit more than this Variegate seems to hang around.   But, it is what it is, and when it comes to quality of life, I have no room for complaint.  I’m more than able to enjoy my daily life.

From my ER Protocol:

Variegate porphyria is a form of hepatic porphyria most common in white South African population.  This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity.  The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase.  Acute attacks are managed and may be prevented as in acute intermittent porphyria.

Acute porphyrias cause acute attacks of neurological symptoms that can be life-threatening.  ACute attacks are triggered by environmental stressors such as certain drugs, sex steroid hormones, reduced intake of calories and carbohydrate, alcohol, and unknown factors.  Many of these factors stimulate heme synthesis in the liver, which in the face of a metabolic enzyme defect, leads to increased production of heme precursors that may be neurotoxic.

So yeah, it’s pretty crazy!  While some of the verbiage sounds scary or intimidating, I assure y’all that this is good news and there’s nothing weird or scary that’s come to my attention that I didn’t already know.   Having this solid of a Dx is just going to help me move forward, and for that I’m beyond grateful.  I’m so appreciative and happy for that.

don't you fret, i haven't changed a bit - still me!

And as for being so special?  We’re all special, and we’re all literally one of a kind.  But having these test results come in was nice.  It was like God whispered in my ear that day, and reminded me that I am made differently and specifically, and that I am so special.

All of this has really helped re-shift my focus towards the future and I’m just in roll-up-the-sleeves-and-get-to-work mode.   I’ll update as I do!

And if you’re my family and you’re reading this, I promise to scan and email soon.  We’ve been so busy.  I know that’s no excuse, I promise I’ll get the info to y’all very soon.  I love you all and I’m so glad that we’re going to tackle this whole thing together, as one big awesome team.