My first intro into this group was on the night before my every 3 month visit to my MS Neuro the day after turning in my 24 hour urine to my endocrinologist to rule out acute intermittent porphyria....it occurred to me, that my 'Porphyria' symptoms and my MS symptoms coincided, walked together, and I even often got them tangled up.
Specialist who only want to hear about 'their body parts' that 'they' manage, kept my care segregated to the point that I stopped talking about some of my body issues with some of my specialist because they always made 'me' feel bad for talking about another specilities in their office...
Though I had been Dx. with MS in August 2011, after nearly 3 years of indecisive neurologist who did not agree on anything they saw in my MRI, or in my labs, or about my multi-system struggles, I learned to 'only' talk about 'neuro' symptoms in their presence...but, that did not change the reality that I had symptoms that were happening in every body system, and no one was talking to each other...Each time I would have one of these horrific GI attacks, I thought it was the end of me, I felt like I was dying, perfuse sweating, terrible abdominal pain, nausea, sometimes vomiting, and if so, it was terrible, dry mouth, watering mouth, confusion, listlessness, elevated BP, weakness in my arms, and eventually my entire body, confusion,and something very close to hallucinations, hours of potty visits, and then days of fatigue...I would call 'all' my specialties, no one even acted like it mattered that I had called. They would say...'It is not MS.' 'It is not GERD.' 'It is not your pituitary tumor...you must have anxiety!' -'did you eat something bad?'' It got no appointment. It got no referral? I started to do what my doctors were doing...forgetting just how bad these 'attacks' really were, in between attacks. I would have mild ones...and then I would move on to the care of 6 kids and a household that needed mom on her feet.
One of these attacks had put me in the hospital, my endo thinking it was an adrenal crisis, but, it was not, and still, there was no resolve. No one knew what to do with me. Then, last year, I had antoher severe attack, I was driving my kids from one event to another when it struck, so severe of GI pain I thought I would wreck. Hours in the bathroom...withering away, drenched in sweat, tremulous...with a weak voice I called from the bathroom to a child passing by...'get grammy...mommy needs help...' What my mom saw, terrified her. She insisted that I call, anyone to get help. I called my MS neuro and my endocrinologist. No reply for 6 weeks! really! There I was in my neuro office retelling the nightmare 6 weeks later...he said, "MS patients have irritable bowel, and bowel spasms, you need a GI muscle relaxer to help you, I'll write you a rx...' Later that same day, the endo. calls me back?!?!? He is aloof, and, distant, weary with my pleas for help. He assures me it is NOT my pituitary tumor, or my multi-nodulous thyroid goiter, or my calcium...and then I ask, 'IT HAS to be metabolic! what can cause such a severe metabolic crisis?!?!?' Then he said the word...'Porphyria" That was the spring of 2012.
I learned the hard way. Porphyria is rare. Docs are not sure how to test for it. and, testing during an attack is imperative. But, you have to have a 24 hour urine collection bucket ready to go, when a sudden attack hits! and, make sure it is NOT a weekend! or else it is wasted urine collection. I learned that labs can 'spill' specimens, and that it is tuff, if it is yours.
After several months of distraction from my docs finding another problem...Primary HyperPAPAthyroidism...(now that is a discussion topic worthy of this site as well...but, not here...not now.) I forgot I had even been told I 'might have Porphyria' until I asked for a copy of my doctor notes from my endo...there I learned he had written...'Porphyria...not likely?' I wondered how he had gotten to that. No test had been done. We had never discussed it. Yet, it was 'off this list'
Last week, when yet another severe one hit me, I collected my urine, and called the American Porphyria foundation and they told me what to tell my doctor to do to accurately test for this condition. But, for some reason...my endo wants to do it his way...first.
So, tonight in discouragement, I looked up...MS & Porphyria... and what do I find? but, someone making the connection as well...back in 2010 So, tomorrow I will go to my neuro, and ask him if 'he' will do the testing ASAP, while I am near the last attack, and will he do it the way the American Porphyria Foundation recommends? I fear I know his answer...'I'm an MS doc...you need to talk to your internist about referring you to a Porphyria specialist...' I now know the nearest 2 are more than 4 hours away from me.
Though I have taken Betaseron, and am awaiting BG12...I think it is best, to wait, and see this Porphyria thing through, first, and find out what is really going on with my body?
Perhaps this forum will stimulate some more conversation on this topic, and it's relevance to MS...soon, I hope.