Melinda Bachini, 52, never intended to be a patient advocate for a disease few people have ever heard of, let alone pronounce. But a 2009 diagnosis of cholangiocarcinoma changed everything for the mother of 6.
Faron Schonfeld, a successful investment portfolio manager from Philadelphia, Pennsylvania, had for years suffered chronic coughing and sinus infections that only seemed to get worse. He was finally referred to a pulmonologist at National Jewish Health in Denver, Colorado. That’s where he got the diagnosis: Schonfeld had alpha-1 antitrypsin deficiency (AATD, or simply alpha-1) —…
When Gennadiy Ilyashenko’s daughter, Sophia, was born, she looked like a healthy, happy baby. But after Sophia failed to meet certain milestones, like being able to sit up by herself, Ilyashenko took her to the family’s London, England pediatrician, who told him “she’s just a lazy baby, there’s nothing wrong with her.” Yet Sophia’s condition…
In late February 2016, while getting dressed for work, George Labonte — the deputy police chief of Wrentham, Massachusetts — noticed a lump under his Adam’s apple as he knotted the tie of his uniform. Labonte’s primary care provider ordered imaging and referred the 35-year-old to an ear, nose, and throat specialist. A biopsy showed…
In August of 2003, Roberta Smith of East Tawas, Michigan, gave birth to twin daughters. It was immediately obvious that one of the girls, Cloe, was seriously ill. Jaundiced and plagued by incessant itching, the infant was diagnosed with Alagille syndrome 2 weeks later. Cloe’s disease is exceedingly rare, affecting roughly 1 in 30,000 to…
Lysosomal acid lipase deficiency (LAL-D) affects fewer than 1 in 50,000 people. But when it comes to rare diseases, Michigan schoolteacher Rebecca Trendy seems to have hit the jackpot. All 4 of her sons have LAL-D — an inherited liver disease that renders the body unable to digest fats. “It’s been quite the medical journey…
Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses.
Colorado dentist John Abrams had to give up his career because of severe hand cramping — a side effect of the medication he took to control his gastrointestinal stromal tumor (GIST). Monica Anderson, a dental surgeon from Texas, got food poisoning in 2012 after going out with her friends to celebrate a new job. While…
As the super-contagious Delta variant of COVID-19 sweeps across the globe, driving up infection rates as well as deaths, top US health officials are urging everyone 12 and older—including the country’s 30 million or so rare disease patients—to get vaccinated quickly.
Before his life got turned upside down, Gerald Fischer was a top manager at one of Europe’s largest tour operators, traveling the world on behalf of leading Austrian celebrities while running his family’s thriving liquor business as a fifth-generation distiller. Everything changed in 1998, the year Fischer’s frail 3-year-old daughter Maleen was diagnosed with pulmonary…
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