News

Iron Infusions Trigger PCT in Woman with Rare UROD Mutation

Regular iron infusions given to treat anemia caused a woman with a rare mutation in the uroporphyrinogen decarboxylase (UROD) gene to develop porphyria cutanea tarda (PCT). Her case was described in the report, “Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous…

Advocates Lobby US Congress During Virtual Rare Disease Week

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

Abdominal Pain, Confusion May Indicate Acute Attack

Complaints of abdominal pain with no apparent cause during physical examination, accompanied by neuropsychiatric symptoms such as confusion and agitation, may be indicative of an acute porphyria attack, according to a recent case report. The study highlighted the importance of promptly performing urine screening tests and starting treatment…

Severe Case of Rare Porphyria, CEP, Diagnosed in Newborn

A rare and severe form of porphyria — congenital erythropoietic porphyria (CEP) — was diagnosed in an infant girl immediately after birth. The case report, “Perinatal onset of severe congenital erythropoietic porphyria,” was published in the journal Archives of Disease in Childhood: Fetal & Neonatal.

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

TAF Financial Aid Program Accepting New Porphyria Patients

The Assistance Fund (TAF) is accepting new eligible patients in the U.S. into its financial aid program for porphyria. The program, which was launched last year, helps individuals to pay for out-of-pocket costs associated with treatment. Financial assistance applies to copays, deductibles, and coinsurance for approved medications; costs…

Nominations Open for 2022 Eurordis Black Pearl Awards

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Stem Cell Transplant Successfully Treats Bone Marrow Porphyrias

A blood stem cell transplant can successfully correct defects in the body’s ability to make heme — a molecule that helps transport oxygen through the bloodstream — in people with bone marrow-based porphyrias, a small study showed. Thus, in patients with severe porphyrias, stem cell transplants should be considered…

Bone Marrow Exam Can Be Crucial in Diagnosing Rare Porphyria

A baby girl was found to have congenital erythropoietic porphyria, highlighting the importance of closely examining the bone marrow for diagnosing this rare form of porphyria. Her case was described in the study, “Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria,” published in the…