We Honor Dr. Poretti - Joubert Syndrome & Related Disorders Foundation
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Dr. Andrea Poretti
Dr. Andrea Poretti

Common knowledge undoubtedly proves that Dr. Andrea Poretti was a brilliant doctor, medical researcher, and scholarly author. According to several bios, he co-authored over 200 articles, 30 book chapters, delivered over 130 presentations at different conferences and consortia, and was invited to be a peer-review scholar with 25 journals. To say this was exemplary scientific, academic, and research excellence is a bewildering understatement. Be sure to read this touching tribute to Dr. Poretti here.

As vast as his scientific and research contributions were to pediatric neurology and rare diseases, Dr. Poretti – Andrea to so many of us, as he dispensed with the formalities of title – was, quite simply, a friend. His soft-spoken, warm demeanor was an immediate comfort to parents gripped by the anxiety and fear of diagnoses that can, at best, be life-altering, and at worst, be life-threatening. He was quick with a smile, a very twinkle in his eye that instantly brought a sense of peace and calm. He never shrunk from personal contact with kids and families. My daughter, Isabella, is famous for wanting hugs from everyone all the time – and Andrea obliged, always, without hesitation and with pure joy – and Isabella squealed and laughed in delight!

Dr. Poretti was well-known in the Joubert syndrome community, for his research and for his support of and advice to families on their journey. Eric Swenson, President of the Joubert Syndrome Foundation, shared a fond memory of a conversation that he had with Dr. Poretti at the 2013 American Society of Human Genetics meeting in Boston, MA: “I told him [Poretti] that I could barely understand half the things being said [in reference to genetic research and Joubert syndrome discoveries] and he looked at me with a big grin and quipped ‘don’t worry, neither can I half the time!’”

Former Joubert Syndrome Foundation President, Karen Tompkins, remembered Dr. Poretti as “a gentle man, unassuming and passionate about helping families; his shy smile will be missed by our family.”

“Dr. Poretti was a kind man and an amazing doctor”, shared Mattie Book, whose two daughters, Ellie and Hannah, have Joubert syndrome, “He always took us to dinner when we were in town for appointments and he love to bring my girls chocolate from Switzerland. One day he sent me a message that at that exact moment he was standing in line with my girls’ picture to have it blessed by the Pope.”

Dr. Andrea Poretti, Stephen Mack, and Isabella Mack
Dr. Andrea Poretti, Stephen Mack, and Isabella Mack at the 2015 gathering of the American Society of Neuroradiology in Chicago, IL.

One of my fondest memories of Dr. Poretti was in 2015. He sent me a Facebook message asking me to speak at a Chicago gathering of the American Society of Neuroradiology. He had been working with the organization’s leadership to bring more family stories to the conference, to share with colleagues the very human side of diagnoses of rare conditions. Isabella, Denise, and I attended, and it was thrilling to speak before 300 assembled professionals. Dr. Poretti, in his quiet voice, introduced me and my family. After the short 15-minute session, he was jubilantly waiting outside in the hall as we wheeled Isabella out of the session room. Andrea was delighted that we were able to bring a family perspective to a highly scientific meeting. He embraced my daughter with a genuine love that far surpassed his role as researcher, and reaffirmed his role as friend.

To say we will miss you, Dr. Poretti, is too simplistic to match the impact that you, your intellect, and your friendship had on the Joubert syndrome family. You were an extraordinary doctor, a fierce advocate for our children, a generous man with your time and counsel, and a true friend. Our families, the Foundation, and most of all, our children, will remember you always, and honor your life and your memory.

Stephen Mack Immediate Past President, JSRDF