A Purple Canary: Life with Acute Intermittent Porphyria

My daughter Jill was diagnosed with Acute Intermittent Porphyria (AIP): Acute (it comes on fast), Intermittent (because one never knows when the liver will react to a trigger) Porphyria (the Greek word for purple—one of the hallmark signals is darkened, purple-hued urine) at age 12. AIP is a genetic, metabolic life-threatening disease also known as “Swedish Porphyria” (because Sweden is where it was first identified and has the highest worldwide incidence of AIP). Known as the “great imitator,” AIP is incredibly difficult for medical experts to figure out because symptoms can manifest (intermittently) individually or collectively with physical, neurological and/or psychiatric presentations that range from non-specific to alarming–and can come and go with maddening switftness.

It is rare for AIP to be diagnosed in U.S. adults, never mind kids. Jill was the first and only child to require infusion treatments for AIP of a human blood product, Panhematin® at Connecticut’s children’s hospital. In fact, she may be the first (and only) U.S. child with AIP to require such treatments for moderate to severe attacks. If not, we’d love to hear from others.

Making diagnosis even more difficult was the fact that Jill did not produce the hallmark purple urine during attacks—and that she is adopted. A neurologist’s “back hand” clue fueled an already burning fire in me to find out what was wrong with Jill, whose first presentations were neurological symptoms: tremors, headaches, nauseous and frequent fainting/convulsive spells beginning in sixth grade. Then moved onto severe abdominal (liver) pain, respiratory difficulty and paralysis–all of which resolved with heme treatments. A year later, after a couple of misdiagnoses (psychiatric), and frighteningly worsening attacks (intensity and frequency), a DNA test (at my insistence) revealed that Jill had AIP. I have since dubbed her my Purple Canary because she has porphyria and she exhibits terrible, life-threatening reactions every time she sets foot in the local public school buildings. That’s another—and the next story. She first presented with AIP at 11 and is now 16. We are collaborating on a book about our journey turned expedition.