Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.
Photo courtesy of Sharon and Katie Brown
Read Parts 1 and 2 of Katie's story, where we discuss the diagnostic journey, precocious puberty, and Katie's ZMYM2-related disorder diagnosis. Potential ZMYM2 Symptoms and the Need for Research The geneticist mentioned that symptoms…
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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)
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At first, 52-year-old Lisa Wolff thought that she was dealing with sciatic pain. The pain was sometimes dull, sometimes burning, but generally manageable. When the pain became too much to…
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A Mom’s Sciatic Pain Turned Out to Be Liposarcoma
February marked National Cancer Prevention Month. This month is designed to better understand, and raise awareness of, preventable causes of cancer; cancer warning signs; and different ways that we can…
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Don’t Ignore These Testicular Cancer Symptoms!
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In the 2009 draft, the Washington Nationals chose pitcher Stephen Strasburg as their first round pick. Over the years, Strasburg has started 247 times and holds a 113-62 record. This…
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Washington Nationals’ Stephen Strasburg Faces Delay in Returning after TOS Surgery
Photo courtesy of Sharon and Katie Brown
Before you continue reading, make sure to check out Part 1 of Katie's story. True Precocious Puberty: The First Official Diagnosis The endocrinologist first ran a blood test, later followed with a…
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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 2)
In the United States, Orphan Drug designation is granted to drugs or biologics designed to treat, prevent, or diagnose rare conditions. “Rare” conditions refer to those affecting under 200,000…
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Batiraxcept Earns Orphan Drug Designation for Pancreatic Cancer
Photo courtesy of Cristina Urbina
Before you read on, make sure to read Part 1 and Part 2 of Cristina and Isaiah's story. In Part 1, Cristina discusses Isaiah's GA-1 diagnostic journey and some of her favorite memories of…
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Remembering Isaiah: How Cristina Honors Her Son’s Memory through GA-1 Awareness (Pt. 3)
Photo courtesy of Sharon and Katie Brown
Katie Brown, age 15, loves learning Spanish, swinging, and special effects makeup. In the future, she is considering a possible career as a writer or a special effects artist; she…
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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)
It can be difficult to spur interest in rare disease drug development. Forty years ago, the Orphan Drug Act passed as a way to incentivize drug development within this space.…
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YB-200 Granted Orphan Drug Designation for HCC
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When Eric and Samantha Rovinetti learned that they were pregnant with their first child, they were overjoyed. They could not wait to welcome baby Adrianna into the world. But shortly…
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GoFundMe: Help Baby Born with SCID
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Before you read on, make sure to check out Part 1 of Cristina and Isaiah's story. In Part 1, Cristina shared the diagnostic odyssey and fight for answers that led to Isaiah's…
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Remembering Isaiah: How Cristina Honors Her Son’s Memory through GA-1 Awareness (Pt. 2)
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Proteinuria refers to excess protein in the urine. In healthy individuals, proteins pass through the kidneys and into the bloodstream. Proteinuria often indicates kidney dysfunction or damage. In fact,…
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Atacicept Lowers Proteinuria Related to IgAN, Study Shares
Currently, a glioblastoma multiforme (also known simply as glioblastoma or GBM) diagnosis comes with a poor prognosis. There is a 40% survival rate after one year which falls to…
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Temferon Granted Orphan Drug Designation for Glioblastoma
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A primary immunodeficiency (PI), or primary immune deficiency disease, is an inherited immune system disorder caused by gene mutations which prevent the immune system from functioning properly. It can…
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Researchers Discover New Genetic Primary Immunodeficiency
In the United States, Orphan Drug designation is granted to drugs or biologics being developed to treat, prevent, or diagnose a rare disease. These are conditions affecting fewer than…
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RAG-17 for ALS Granted Orphan Drug Designation
Photo courtesy of Cristina Urbina
At 33 years old, Cristina Urbina has built a beautiful life. Since she was younger, she always knew that she wanted to work with kids. She loves the laughter, the…
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Remembering Isaiah: Cristina Honors Her Son’s Memory Through GA-1 Awareness (Pt. 1)
Photo courtesy of Pari Schroeder
Make sure to check out Part 1 of the Schroeder family's story before reading further. CURED Currently, the Schroeder family is doing as well as they can to manage and to ensure…
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A Rare Family: From EoE and POTS to EDS and Intussusception, the Schroeder Family Fights for Awareness (Pt. 2)
There have been rising incidences of gastric cancer on a global scale. As a result, this cancer is now considered the fourth leading oncological cause of death worldwide. Gastric cancer…
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Positive Results Available on Keytruda Combination for Gastric Cancer and GE Junction Carcinoma
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A Phase 2a study sought to compare the safety, efficacy, and tolerability of ABBV-3373, as compared to adalimumab, for patients with rheumatoid arthritis (RA). Patients involved in the study had…
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ABBV-3373 Shows Promise for Rheumatoid Arthritis (RA), Phase 2a Data Shows
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Silica is a naturally occurring substance that is found in certain types of clay, sand, and rocks. Workers who work with these substances—such as mineworkers, stone masons, construction workers, and…
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South African Compensation Program Begins for Workers Who Contracted Silicosis
Photo courtesy of Lisa Superina
Before you read on, make sure to check out Part 1 of this story. What is Shwachman-Diamond Syndrome (SDS)? First identified in 1964, Shwachman-Diamond syndrome (SDS) is a rare inherited condition that…
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Lisa Champions the Importance of Advocacy After Her Daughters’ Shwachman-Diamond Syndrome Diagnoses (Pt. 2)
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The goal of polymyalgia rheumatica treatment is to reduce inflammation and control or manage the other symptoms. As such, the current standard-of-care includes long-term corticosteroid treatment. According to MedPage Today,…
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Xeljanz Shows Efficacy for Polymyalgia Rheumatica, Study Shows
Photo courtesy of Pari Schroeder
When asked about the key way that the medical field can better serve patients, Pari Schroeder doesn’t waver: multidisciplinary care. She acknowledges that the medical system can often be very…
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A Rare Family: From EoE and POTS to EDS and Intussusception, the Schroeder Family Fights for Awareness (Pt. 1)
According to a news release from mid-January 2023, the FDA granted Rare Pediatric Disease designation to SYNB1934 for phenylketonuria. This designation is granted to drugs or biologics being developed for…
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ICYMI: SYNB1934 for Phenylketonuria Granted Rare Pediatric Disease Designation
Photo courtesy of Lisa Superina
In the first year after her daughter Nora’s Shwachman-Diamond syndrome (SDS) diagnosis, and her daughter Kayla’s subsequent diagnosis, Lisa Superina raised over $130,000 towards SDS research. She held a comedy…
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Lisa Champions the Importance of Advocacy After Her Daughters’ Shwachman-Diamond Syndrome Diagnoses (Pt. 1)
