Purple Canaries

Joyce Gould with Jill Gould

Day 2, Purple Canary 2021 National Porphyria Awareness Week: VP PATIENT ODYSSEY

Although I was an early talker at 4 months three months later I was given a medical diagnosis of failure to thrive. During my early years (age 3-4), I frequently suffered bad tummy aches after being in the sun. Even so, my mother was ordered by doctors to subject me to sun therapy because they said I suffered from rickets. A tetanus shot at age 3 precipitated vomiting attacks for the next several years. At age five, I fainted while seated in school. Two years later, I nearly died of hypoxia while being treated with penicillin (I was not allergic to it) for strep throat and measles then developed pyelonephritis, a condition that years later a highly respected porphyria expert determined was an indicator of porphyria. I have memories of being about 8 years old and seeing my mother curled up in her bed, suffering with an attack. Sometime later, she went away for treatment where she was presumably diagnosed with porphyria. Evidently, her urine changed color and a doctor was alerted due to this interest in porphyria. However, the word “porphyria” was never uttered throughout my childhood. But after that hospitalization my mother always loaded me up with candies and other sweets to take back to boarding school (which suggested she knew about porphyria/sweets). At some point, she was hospitalized for a length of time (2x at 6 weeks each) for retinal detachment treatment; in those days they believed such patients were to be kept in a reclining position for the duration.

Beginning early and throughout my many years, my symptoms and illnesses ran a troublesome gamut: lactose intolerance, gluten intolerance, food allergies, stomach pains, “ovulation pains”, rheumatic fever, pneumonia, pleurisy, bronchiectasis, ringworm, petichae, erythema nodosum, sarcoidosis (with many relapses), diabetes, insulin intolerance, vision loss, broken toes (upon simply rising from bed), bladder infections, frequent UTIs with hematuria, fibromyalgia, hepatitis-like illnesses, mental distress, unexplainable “drop attacks”, vision loss, bouts of paralysis, pernicious anemia.

I’ve endured numerous operations and medical procedures and received various vaccinations that turned out to have distressing side effects. There isn’t enough room here to list the number of medications (safe and unsafe) that have been tried out on me over many years. Despite my medical concerns, I earned a degree in Clinical Psychology and worked in that gratifying field for a number of years. I’ve been investigated for MS, Myasthenia gravis and other similar and/or related diseases, and yes, porphyria. In fact, in 1981, my case was written up in a highly respected medical journal that stated a “patient with known family history of porphyria.” At that time, although I presented with “severe abdominal pain and aching of lower limbs of three days duration,” my “blood pressure, pulse rate and mental state were normal.” But urine and fecal samples “gave a pattern diagnostic of variegate porphyria” and the porphyria experts who’d prepared the article stated, “this patient demonstrates the main features of variegate porphyria: a positive family history and chronic skin involvement with occasional transient episodes of acute abdominal and neurological manifestations.” In 1999 I received a clinical diagnosis of variegate porphyria from a highly acclaimed porphyria pioneer. Four years later I found myself in the presence of one of the porphyria experts who’d participated in the 1981 writing of my case study. But he inexplicably refused to order DNA testing and broke off contact with me. He turned my case over to genetic counsellors who were ready with an inexplicable argument, “Would DNA results change your treatment?” Knowing of the efficacy of glucose infusions and hematin treatments, I thought, “Of course it would!” However, other than the few times when I begged for oral glucose treatment (which did help), I received neither glucose nor hematin infusions. Given early enough and regularly, it is quite probable that the neuropathy and paralysis I’ve suffered since would have not have worsened into the frequent, unmitigated horror events I continue to suffer. Aggravatingly so, interference from the aforementioned porphyria expert has continued for years throughout my quest to obtain answers from numerous sources.

My family history is replete with sickly cousins and second cousins that present with similar symptoms to the family of Chester, UK, where I have ancestral ties.  I’ve dedicated considerable time and effort to research the acute porphryias—most notably variegate porphyria. Not impressed with information provided by so-called experts, I ventured down many trails to obtain treatment and/or medical advice. Now as an octogenarian here are some points I want to share with readers of this forum about what I’ve learned through experience about the acute porphyrias: 

1)        they are progressive disorders that worsen over time;

2)        chronicity is not a maybe—it’s a surety;

3)        acute porphyria patients can indeed suffer with anemia;

4)        blood sugar (especially low) can be an indicator of impending porphyria activity.  It is for me–I wear a continuous glucose monitor to alert me of blood sugar lows;

5)        blood cell abnormalities are not uncommon in acute porphyria;

6)        nutrition (including additional supplementation with minerals and/or vitamins) is critical for the management of acute porphyria;

7)        reducing or better yet, avoiding sunlight and blue light of computers, phones, etc. can help decrease skin rashes however, my skin afflictions can flare from other triggers such as stress, too.

Even though my case history was published back in 1981 and data from my brother’s, mother’s and my porphyria were included in a 2016 US study about acute porphyria, it is painfully obvious that experts intentionally turned their backs on me.  My husband, my rock, passed away in 2010, leaving me alone to manage as best I can. I find minimal relief by ingesting glucose, maintaining a higher than “normal” carb diet and relying on regular intake of supplements (such as B vitamins). At times I turn to cimetidine which was long ago proven through clinical trial to treat acute porphyrias. Some days (actually most days) none of this is enough.

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