The American Porphyria Foundation and the Porphyrias Consortium (PC) will hold a half-day medical meeting this Saturday, January 18th, 2020 including porphyria experts from the US and Europe. The meeting will focus on a form of Acute Intermittent Porphyria, HDAIP – Homozygous Dominant Acute Intermittent Porphyria, which is an ultra-rare variant. During the last few years, to our knowledge, there have only been two affected American patients and several reported in Europe. Most of these patients are diagnosed in infancy. Over a dozen US doctors will participate along with five European experts that will join by Skype.
Together, they will review the world’s literature, characterize the disease, discuss therapies and treatments, clinical findings and potential therapeutic and quality of life possibilities. We are proud to bring together the world’s experts to focus on the most rare and young among us.
This meeting is sponsored by friends and family supporting Kam Kadinger (age 3). Kameron "Kam" is the sweetest, happiest and most lovable little guy. He has overcome more obstacles in his short little life than most adults. Diagnosed with HDAIP before one year old, his porphyria is completely different from the typical AIP patient. He has developmental delays, seizures with apnea episodes, hypertension, chronic acidosis, and sleep apnea. His symptoms persist daily and he has chronic elevation in ALA and PBG levels and deficiency in heme levels. The disease is progressive. Kam’s family is grateful to the dedicated physicians who are gathering to discuss HDAIP.