December 4, 2019 - Patient Worthy

Press Release: Rare Disease Community Calls on Congress & FDA to Enact Life-Saving Public Policy Solutions

Post author:Patient Worthy Contributor
Post published:December 4, 2019
Post category:Rare Disease

Contact: Britta Vander Linden [email protected] 917.604.6518 30 million Americans need more treatment and diagnostic opportunities https://everylifefoundation.org/rare-disease-community-calls-on-congress-fda-to-enact-life-saving-public-policy-solutions/ (Washington, D.C., December 4, 2019) Hundreds of rare disease advocates from around the country were brought to Washington,…

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ICYMI: #PatientsAreNotFaking Because Patients Are Sick, And They Are Sick of Not Being Taken Seriously

Post author:Sunniva Bean
Post published:December 4, 2019
Post category:Rare Disease

Getting a diagnosis for a rare disease is hard. Not many people are familiar with the many obscure symptoms and manifestations of these diseases. Because of this, patients with rare…

After Five Insurance Coverage Denials, the Next Appeal Brought a Young Patient Closer to Receiving Treatment for Metachromatic Leukodystrophy

Post author:Rose Duesterwald
Post published:December 4, 2019
Post category:Metachromatic Leukodystrophy

A recent article in the Taunton Gazette describes the dilemma faced by the parents of four-year-old Jaxtien Miller who is a metachromatic leukodystrophy patient waiting for a stem cell…

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Repurposed Drug for Dravet Syndrome Has “Definitely Exciting” Results

Post author:Sunniva Bean
Post published:December 4, 2019
Post category:Rare Disease

As originally reported in Medscape Neurology News, for the last few years, doctors and researchers have been excited by the new prospect to use an obesity drug, fenfluramine, to treat…

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IYCMI: CALQUENCE Has Received US FDA Approval to Benefit Adults with CLL

Post author:Rose Duesterwald
Post published:December 4, 2019
Post category:Chronic Lymphocytic Leukemia

A recent article in BioPortfolio carried AstraZeneca’s announcement of the FDA’s approval of CALQUENCE® (acalabrutinib) for adult patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The approval…

17 Year Old With Grapefruit Sized Tumor Shares Her Story With Neurofibromatosis

Post author:Sunniva Bean
Post published:December 4, 2019
Post category:Neurofibromatosis Rare Disease

As originally reported in Mirror, when Sian Hopper was in secondary school, she began to get headaches. She attributed them to stress: she had been studying for her GCSE exams,…

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Study Finds Increased Risk of Bladder Problems for Primary Sjögren’s Syndrome Patients

Post author:James Moore
Post published:December 4, 2019
Post category:Sjogren’s Syndrome

A recent study published in the scientific journal PLOS One has determined that patients with the rare disorder primary Sjögren's syndrome are at a greater risk of bladder problems than previously thought.…

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Patients with Long-QT Syndrome are at Greater Risk of Comorbidities

Post author:Patient Worthy Contributor
Post published:December 4, 2019
Post category:Long QT Syndrome

Long QT syndrome (LQTS) is a congenital disorder that manifests as a prolonged QT interval on patient electrocardiograms. Those who are affected by LQTS are more likely to experience…

Acute Hepatic Porphyria: First Ever Drug Approved to Reduce Porphyria Attacks

Post author:Sunniva Bean
Post published:December 4, 2019
Post category:Rare Disease

As originally reported in CheckOrphan, there's good news today for adult patients with acute hepatic porphyria, a genetic disorder which causes pain and paralysis. The Food and Drug Administration (FDA)…

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CRISPR/Cas9 Looks Promising for Transfusion Dependent Sickle Cell Disease and Beta Thalassemia Patients

Post author:Rose Duesterwald
Post published:December 4, 2019
Post category:Beta Thalassemia Sickle cell anemia

CRISPR/Cas9 technology reached another milestone with encouraging results in two recent trials of CTX001. An article in Pharmaceutical Technology carried an announcement by CRISPR Therapeutics and Vertex Pharmaceuticals about…

Press Release: Rare Disease Community Calls on Congress & FDA to Enact Life-Saving Public Policy Solutions

ICYMI: #PatientsAreNotFaking Because Patients Are Sick, And They Are Sick of Not Being Taken Seriously

After Five Insurance Coverage Denials, the Next Appeal Brought a Young Patient Closer to Receiving Treatment for Metachromatic Leukodystrophy

Repurposed Drug for Dravet Syndrome Has “Definitely Exciting” Results

IYCMI: CALQUENCE Has Received US FDA Approval to Benefit Adults with CLL

17 Year Old With Grapefruit Sized Tumor Shares Her Story With Neurofibromatosis

Study Finds Increased Risk of Bladder Problems for Primary Sjögren’s Syndrome Patients

Patients with Long-QT Syndrome are at Greater Risk of Comorbidities

Acute Hepatic Porphyria: First Ever Drug Approved to Reduce Porphyria Attacks

CRISPR/Cas9 Looks Promising for Transfusion Dependent Sickle Cell Disease and Beta Thalassemia Patients

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

“Shades of Psoriasis”: Plaque Psoriasis and Sharing Your Story

Understanding RSV: Why Combatting Ethnic and Age-Related Health Disparities Could Improve Outcomes

We Need Equity and Diversity Within Rare Disease Research

DNA in Color: How Ronya Nelson is Working to Close the Diversity Gap in Genetics - Part 1

Bridging the Diversity Gap in Healthcare

Congratulations to the 2023 Recipients of the Diversity in Lupus Research Awards!

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