When Adrienne Vollmer first learned that her son Graham had spinal muscular atrophy (SMA), she was shocked. At the time, there were no FDA-approved treatments (three now exist). The life…
For as long as she can remember, eighth-grader Ella Bork has held a keen knowledge of rare diseases, especially Alagille syndrome. Her mother, Cher, is actually the Executive Director of…
At five years old, Traviana Dunston has cultivated a deep love and appreciation for music and dance. She’s an entertainer at heart: full of energy and light. Right now, Traviana…
Uplifting Athletes 10,000 Mile Challenge August 10-19, 2023 Are you an avid runner, swimmer, or cyclist? Do you roll on wheels of any kind or are a casual walker? Whether…
Written by Jennifer Sills, Founder, CSNK2A1 Foundation If you know me, you know I have had an unconventional life, to put it mildly. More than anyone, I know that life…
According to an article in MedicalXpress News Today, current research indicates that rare diseases in the United States affect 25-30 million people. The numbers keep rising and rival diseases…
Hudson Reynolds learned about rare disease when his sister Tia was diagnosed with phenylketonuria (PKU). PKU is an inborn error of metabolism which causes phenylalanine, an amino acid, to build…
Two days. That’s all it took for Jill and Jeff Ackermann to watch their son’s condition mysteriously deteriorate. On Saturday, six-year-old Bryson was the energetic, athletic, and bright-eyed little boy…
Professor Timothy Yu developed the custom drug milasen named in honor of Mila, an 8-year-old girl with Batten disease. The drug is the first drug specifically designed for one…
Family gatherings can be fun, boisterous, and sometimes full of conflict. During one such event, Donnie Adams found himself intervening to break up a fight between two people. Although he…
English-American guitarist, singer, and songwriter Peter Frampton is best known for his hit album “Frampton Comes Alive!” and his upbeat, immersive performances. But he is also known for his efforts…
At first, Tammy Ross thought nothing about messing with her fingernail on her thumb. It had become ingrown; the pain and swelling were too much to deal with. So Tammy…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
American consumers have access to the most advanced pharmaceutical systems in the world. Recent medical and technical advances seem to support that reputation. According to Medical Xpress, a Swiss…
According to a story from International Business Times, a French couple encountered an unpleasant skin condition as a result of a pest infestation in their home. Their case was reported…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
Minnesota Twins at Seattle Mariners Game Day Uplifting Experience July 17, 2023 T-Mobile Park, Seattle, WA Uplifting Athletes is excited to invite rare individuals and families to join us for…
Every parent hopes that their child will be born safely and healthily. But for one family in India, their daughter’s birth brought a host of concerns about her health. From…
On June 21, 2023, the Rare Disease Legislative Advocates (RDLA) hosted its monthly webinar. These webinars help provide updates to the rare disease community on legislation and other policy initiatives…
As she stood in the garden, surrounded by friends and family, a splitting headache richocheted through Ciara Wilkie's head. Her vision blurred. At first, Ciara didn't think much of it.…
In 2015, rare disease stakeholders in North Carolina established the first Rare Disease Advisory Council (RDAC); the National Organization for Rare Disorders (NORD) explains that an RDAC is an…
In the average person, you would expect to see normal to near-optimal low-density lipoprotein (LDL) cholesterol levels sitting at 129 mg/DL or lower; levels under 100 are seen as healthier.…
Treatment options such as Haegarda and Takhzyro have significantly improved the treatment landscape for people living with hereditary angioedema (HAE). The treatments, used as prophylaxis, work to reduce disease burden…
Raising awareness for rare diseases and conditions is important for many reasons. First, it helps to increase education and understanding around these rare conditions. Awareness also offers support to those…
Caleb Castle-Parker was born ten weeks premature. At the time, his parents didn’t know how his prematurity might affect him (if at all) long-term. But Caleb seemed to be…
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