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!
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.
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.