A few weeks ago, I received Panhematin (hemin for injection) at the infusion center for treatment of my acute hepatic porphyria (AHP), then drove straight to a protest at the Iowa State Capitol in Des Moines. I hooked a rainbow tie-dye face mask behind my ears and…
A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a 22-year-old woman in China, according to a recent study. The mutation was found to affect splicing — the process that allows the coding regions of a gene to be joined…
“Start where you are. Use what you have. Do what you can.” The words of that popular quote, which has several variations, echo a powerful sentiment that resonates especially well within the rare disease community. As we approach Rare Disease Day on Feb. 29, which falls on…
People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their blood, suggesting these could potentially serve as early biomarkers to mitigate damage, a recent study reports. Levels of these markers — KIM-1, FABP-1, and alpha-GST — were found to be…
John Manak, PhD, a professor and human genetics disease expert at the University of Iowa, emailed me to ask if I’d speak to his class about living with acute intermittent porphyria (AIP). The class was called “Good Genes Gone Bad.” Little did I know at the time how much…
Five years of standard treatment did not slow the progression of congenital erythropoietic porphyria (CEP) — the rarest type of porphyria, marked by severe light sensitivity — in a young man in Armenia, according to a study on the first reported case of the condition in that country. For…
Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…
My dog, Lenny, walked alongside me in his red vest, adeptly navigating the display tables heaped with candies. At our neighborhood chocolatier, glistening pink wrappers and crimson hearts had replaced clearanced holiday treats. When we came to the glass case, Lenny patiently settled on his belly while I peered…
Researchers in Italy hope to help clinicians more quickly recognize acute intermittent porphyria (AIP) in their case report of a young woman who saw her condition severely worsen after years of delayed diagnosis. The woman had a history of psychiatric issues and abdominal pain, and then developed neurological symptoms,…
My days often start with a short, guided meditation. With a brain that’s always on the go — making plans, moving forward, synapses constantly firing — starting with a few minutes of calm helps me set an intention and tone for the day. Today, my intention is gratitude. I’m especially…
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