The parents had brought their baby girl home only four days ago when they received an urgent call from the hospital asking them to bring the baby right back for…
One of the most successful healthcare services benefiting the public is newborn screening. Unfortunately, this life-saving health initiative is not provided for all rare diseases in some U.S. states. As…
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…
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…
In 2019, South Carolina Governor Henry McMaster signed Dylan’s Law into effect. This law was passed in the wake of Dylan Emery’s death. The young boy had Krabbe disease, a…
There are many rare or congenital diseases that, without early detection and treatment, can cause serious health issues and complications. For example, early treatment of homocystinuria (HCU) could delay or…
Newborn screening is a public health program in which infants are screened for various metabolic, genetic, and developmental disorders shortly after birth. Through newborn screening, doctors may identify potential disorders…
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…
Newborn screening is a public health program which screens infants for a variety of genetic, endocrine, and metabolic disorders following birth. For example, a newborn screening panel may test for…
Newborn screening (NBS) is a public health service within the United States through which babies are screened for medical conditions that otherwise wouldn't be apparent at birth. Many of the…
According to a news release from the EveryLife Foundation for Rare Diseases, North Carolina became the 4th state in the nation to sign newborn screening legislation in 2021 (following Arizona,…
On October 25, 2021, Rare Disease Legislative Advocates (RDLA) held a virtual briefing for the Rare Disease Congressional Caucus. The subject of this briefing was newborn screening and ongoing discussions…
On September 21, 2021, Rare Disease Legislative Advocates (RDLA) hosted its monthly webinar. The focus of this webinar was newborn screening in recognition of Newborn Screening Awareness Month, which is…
Written by Dawn Laney, MS, CDC, CCRC The journey to a Fabry disease diagnosis is rarely a clear, straight path. Fabry can mimic more common health issues and lead patients…
What do phenylketonuria (PKU), galactosemia, and maple syrup urine disease (MSUD) have in common? All three are considered inborn errors of metabolism, or rare genetic disorders in which the…
Have you ever heard of newborn screening? Basically, newborn screening is a public health service which can identify potential hormone-related, genetic, or metabolic conditions. Since early identification is so crucial…
Newborn screening is important to early diagnosis and intervention. With some conditions, every second counts. Catching a rare disease as soon as a child is born could lead to much…
Becoming a new parent is always scary. There are plenty of worries and concerns: setting up a nursery, making the right decisions, and of course, the baby's health. Samantha and…
CNN Newsource ran a special report about five-year-old Emmett Monaco of Beaverton, Oregon who is fighting to stay alive, but his body is slowly failing him. Emmett was diagnosed with…
Michael Conway, a grandfather from Scotland, believes that there should be increased rare disease screening after he was diagnosed with adrenoleukodystrophy (ALD) in 2016. Like many other rare disease patients,…
Note: This press release is from the Association for Creatine Deficiencies. To learn more about this organization, click here. For the first time, a newborn baby has been diagnosed with…
As reported in WTNH; in Stafford Springs, CN, the Pokorny family was rudely awakened to the world of rare diseases when their new daughter Olivia was born with spinal muscular…
As of last month, a newborn screening advisory committee from the Virginia Department of Health declined to add Krabbe disease to the conditions that doctors look for when a child…
Parent Project Muscular Dystrophy (PPMD) is a nonprofit that focuses on fighting for a cure, better resources, and more awareness for Duchenne muscular dystrophy (DMD). More than a year ago…
by Lauren Taylor from In The Cloud Copy Nearly all babies born in the United States today are tested for a certain panel of genetic disorders within 48 hours of…
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