My name is Elena, mother to Jaicion. In 2021, I was pregnant with Jaicion, and the doctors ran tests that they would run on any mother-to-be. My doctor called me…
Spinal muscular atrophy (SMA) is a rare disease causing progressive muscular weakness. Severe forms of the disease can be fatal to infants. Apitegromab is an experimental therapy that was successful…
The month of August is recognized as Spinal Muscular Atrophy (SMA) Awareness Month. This is a time of year in which the community works to spread awareness about this rare…
Testing for rare conditions can be costly and time-consuming. In India, testing for spinal muscular atrophy (SMA), a rare genetic disorder, has traditionally cost between 3500 INR to 7000 INR…
For decades researchers have had to isolate segments of genes in order to study them. They called the isolated gene a “mini gene.” Ravindra Singh, a biomedical science professor at…
₹17.5 crores—or $2,102,128. That's the cost of medication for a young boy named Kanav, who lives in Najafgarh, a town in the Southwest Delhi district. Kanav is living with…
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…
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…
Each summer advocates for rare diseases take advantage of longer daylight hours and use the opportunity to showcase the hopes, needs, and wants of people with rare diseases such as,…
Orphan drug designation was first introduced to the European Union in 2000. The designation is granted to therapies intended to treat, diagnose, or prevent a rare, life-threatening, or chronically…
John knew from an early age that he not only loved music but had confidence in his musical ability. However, there was another very troubling issue in his life. John…
In March 2023, 14-year-old Rylie Erbacher visited Washington, D.C. for a one-of-a-kind experience. The teen, who has spinal muscular atrophy (SMA) type 2, was one of just 10 people nationally…
You caught me: I'm a Swiftie. I first saw Taylor Swift on her Speak Now tour and, in 2 weeks, am taking on the Eras tour in Philadelphia (PS: if you have any…
After Tabitha Wright heard the news from the doctor, her heart dropped. Her daughter Aspen had just been diagnosed with spinal muscular atrophy (SMA) type 1, a rare genetic…
In clinical trials evaluating Zolgensma for children with spinal muscular atrophy (SMA), the maximum weight of participants was 18.7 pounds. However, parents with children weighing over that weight might be…
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…
What type of cognitive changes are present in individuals with spinal muscular atrophy (SMA) type 3? More so, do these cognitive changes affect clinical factors and, if so, how? According…
Altogether, there are multiple subtypes of spinal muscular atrophy (SMA), a rare genetic disorder causing muscle weakness and generation. Four months ago, Aniya Porter was born with type I, a…
The American Academy of Neurology (AAN) held its Annual Meeting from April 22-28, 2022. During the meeting, various stakeholders discussed trends, science, and research within the field of neurology. According…
The following story was told to R29 Fertility Diaries by a 34-year-old mother and her husband. The newly married couple was anxious to be parents. Even after the loss of…
According to a recent article, a study in Estonia looked at the prevalence and characteristics of spinal muscular atrophy (SMA) over the last 24 years to aid in implementing SMA…
According to a recent article in SMA News Today, more spinal muscular atrophy (SMA) patients in the United Kingdom (UK) will have access to Zolgensma. This change comes after the…
PTC Therapeutics Inc. has just announced that their supplemental new drug application for Evrysdi (risdiplam) has been given priority review by the FDA. The aim is to expand the indication…
Rare disease therapies are often difficult to access, whether that is due to price, a patient's location, or another factor. Because of these obstacles, many rare disease patients find themselves…
When Rhonda Stevey met her grandson, Koehyn, she was immediately smitten. The grandmother, who lives in Ohio, felt like her grandson was the happiest infant she had ever met. Unfortunately,…
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