New Breast Cancer Screening Guidelines Advise Mammograms at Age 40
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NewsMay | 14 | 2021
Across the nation, people are gearing up for summer and looking forward to enjoying beaches, swimming, boating and golf in the warm sunshine. But what if you could never go outside and enjoy the sun? For some individuals with the rare disease known as erythropoietic protoporphyria (EPP), this is a reality.
Traditionally, those who are diagnosed with EPP have had limited care and treatment options, however, Mass General has now opened the Mass General Cancer Center Porphyria Center, the first of its kind in New England.
EPP is one type of porphyria, a group of genetic disorders affecting the biosynthesis of heme – a molecule critical to the formation of hemoglobin and red blood cells. Patients with certain types of porphyria can have life-threatening and debilitating symptoms, including extreme sun sensitivity, intractable abdominal pain, seizures, kidney and liver failure.
“We are thrilled to see patients’ enthusiasm for our clinic,” says Rebecca Karp Leaf, MD, who serves as the center’s co-director, along with Amy Dickey, MD, MSc and Sarina Elmariah, MD, PhD. “Prior to our opening, many people had been traveling out of state and some internationally for treatment. Our patients have such incredible positive energy—it is a pleasure to care for them.”
While all of the clinic’s clinicians are thrilled about the new center, perhaps no one is more excited than Dickey—who herself has had the disease for many years.
“Because I have erythropoietic protoporphyria, other patients with porphyria feel like my family,” she says. “There’s a shared experience that’s difficult to put into words. When facing the medical system, I know firsthand the struggle that porphyria patients face, including misunderstanding, dismissals, incorrect preconceived notions and fractured care. I’m overjoyed to now be able to offer porphyria patients both comprehensive porphyria care and effective therapies. It’s been a long time coming.”
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