Purple Canaries

Joyce Gould with Jill Gould

DAY 4 – 2021 NATIONAL PORPHYRIA AWARENESS WEEK:  An HCP PATIENT ODYSSEY, prepared by the patient’s mother/caregiver

Two of my three children inherited Hereditary Coproporphyria (HCP) from their father’s lineage; last I

knew his family included more than ten HCP sufferers. My oldest child, a daughter, had episodes of pain in her abdomen and severe constipation from as soon as she could speak and tell me what she was feeling. She had taken numerous courses of antibiotics with little success. As the pain grew more and more severe my daughter was seen by numerous specialists and had been subjected to multiple tests to rule out everything the pediatrician could think of, even looking for signs of sexual assault as no cause could be found for her ongoing bouts of pain. One very hot summer’s day my daughter and I were gardening when she suddenly fell to the ground and stayed in the fetal position, not making a sound. I swept her up and took her to the nearest emergency room where a paternal family member, who happens to be a pediatric/genetic/metabolic specialist, is employed. She confided that porphyria was in the family and after thorough testing, gave an informal diagnosis of porphyria. Her professional opinion was that the disease was the best explanation for my daughter’s symptoms, despite the literature excluding the possibility of children having attacks before puberty. She explained that little was known about rare diseases and that the literature can often be incomplete, especially when it came to metabolic diseases. She stated that because porphyria is a genetic metabolic disease it would be more likely to be active from birth and noted that family accounts confirmed that porphyria activity had been reported in very young children from their family.

All of this happened before my daughter was 3. I remember this because she started preschool in a full leg cast after falling over on a family holiday. Thanks to the family specialist, I knew to keep her out of the sun and had learned from experience to hold her hand firmly as she would just suddenly collapse without warning, but she insisted on walking on her own this day so I let her walk through a park without holding her hand. Sure enough, she dropped to the ground with a thud and we soon found out she had broken her leg in the fall. There was no force or scream or even propulsion in the way she fell, just a hard whack onto the ground. These episodes, which I can only explain as fainting followed by severe stomach pain and two weeks of constipation had become a regular occurrence by the time she went to school. As I could not get a formal diagnosis for her due to the misinformation that children do not have acute attacks, she was left to her own devices at school and I was forever running to school after a phone call stating that she had fallen over in the playground, one day knocking out a front tooth and scraping her face. There were never any scrapes on her hands. She never guarded her face or broke her fall. She just dropped like a bag of potatoes.

My youngest child, a son, was diagnosed with epilepsy and a brain disorder at a very early age. He too

began exhibiting what I now knew to be porphyria symptoms. That’s when his treating neurologist insisted that genetic and biological testing be done on all three of the children in the family. This testing had previously been refused by a recommended porphyria specialist due to the assumption that children didn’t have acute attacks. All three children were tested–the two who were suffering symptoms came back with positive DNA and the stool biomarker indicating HCP (Copro III:I reversed). By that time, my daughter was sixteen and my youngest was seven. My seven year old also had high urinary PBG, which was determined to be due to years of taking unsafe epilepsy medications since his birth. Because he excreted U-BP, he was considered to be in an acute attack; removal of the offending epilepsy medications stopped the symptoms. While no treatment was offered by the porphyria specialist, my son was frequently placed on glucose IV by doctors at his regular hospital in order to avoid attacks.

Meanwhile, my daughter continued to suffer severe HCP symptoms and attacks; she never did excrete first-line U-BP so was denied treatment for eighteen long years. Having left school, unable to eat or

sleep, often being taken to emergency via ambulance, she was left to suffer due to a lack of high urine

PBG, despite her having seen a multitude of specialists over more than a decade who ruled out common

causes for her symptoms, despite her family history of porphyria and even despite the expert-confirmed

DNA result! In 2016, she became deathly ill. I sought contact with an experienced porphyria expert from another state who confirmed that my daughter was indeed suffering from porphyria. He cited the DNA result combined with the stool ratio indicating HCP plus symptoms and triggers synonymous with an acute attack of porphyria and began treating her with glucose/hemin treatments. Her condition improved considerably. Previously in a wheelchair, she resumed her ability to walk but her HCP remains chronic, needing numerous treatments with heme infusions per year. She currently has another excellent specialist who regularly tests her heme levels and organizes treatment when these levels are reduced or depleted and symptoms worsen. She also has been found to have high urinary ALA during most attacks–something never tested previously when urinary PBG was assumed to be the only relevant indicator. She has never had high U-PBG yet her doctors are now well aware that it is not a good indicator of acute attacks in her case and she receives hematin as she needs it. It is her specialist’s opinion that she has been heme deficient for years and will need many years of treatment before her body recovers from years of medical neglect.

A final point:

It is still commonly stated in academic papers that infantile acute attacks are extremely rare. It is also completely unrecognized by most ‘experts’ that sun exposure can cause acute attacks in porphyrics who are susceptible. I only recently realized this when representatives from two major international porphyria organizations stated bluntly that the sun only ever causes skin reactions, much to the chagrin of the many HCP and VP sufferers who, like my daughter, have had life-long neurological attacks from sun exposure. There is still so much misinformation circulating in porphyria academia which never seems to be challenged.

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