Without treatment, spinal muscular atrophy (SMA) is the top cause of infant or child mortality before age 2. As a result, early detection is crucial in improving patient outcomes. But…
During the 10th European Conference on Rare Diseases & Orphan Products, hosted by Eurodis, many people advocated for improved newborn screening panels. In particular, these panels should include more testing…
As originally reported in Fabry Disease News, the potentially fatal genetic disorder Fabry disease can be diagnosed most effectively in infancy by newborn screening programs. By identifying the disease early,…
According to a story from ir.stockpr.com, the biotechnology company Cyclo Therapeutics, Inc. (previously known as CTD Holdings) has recently thrown its support behind a Niemann-Pick Disease Type C newborn screening…
Groups like Cure SMA, the Cystic Fibrosis Foundation, the Muscular Dystrophy Association, Parent Project Muscular Dystrophy (PPMD), and the National Organization for Rare Disorders (NORD) have a mission: The United States Senate…
Newborn Screening Webinar/Conference Call Are you interested in learning more about newborn screenings for rare diseases? Then don't miss this educational webinar, which will focus on the importance of newborn…
The fate of newborn screening for Pompe disease and MPS-1 throughout the state of VA will be determined next week. The VA Newborn Screening Advisory Committee meeting will take place…
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality in the USA. So why aren't hospitals in Texas screening newborns for it? That's what a group of…
Sometimes it takes a tragedy to create real change. Last year, Connecticut joined the short list of states to implement an ALD newborn screening test, after the parents of a…
While cliché, it is still true that children are the future. That is why it is so important that we find ways to protect them where we can and prepare…
The United States government has certain diseases that they recommend newborn babies to be checked for and currently, spinal muscular atrophy (SMA) isn't on the list. But--great news!--spinal muscular atrophy is…
It doesn’t seem possible to have a conversation these days without it devolving into some sort of partisan shouting match will little hope of resolution. Issues that we might think…
Genetic testing for Spinal Muscular Atrophy (SMA). Most US-born newborns are undergo testing to find out if they have certain genetic conditions. These tests vary from state to state. There…
If you had the opportunity to gaze into a crystal ball and see the future, would you do it? And if you did, and you noticed something amiss, would you…
Congratulations! You're about to have a bundle of joy! You have names picked out, and you've been preparing for the past nine months to welcome this new little family member.…
Carnitine palmitoyltransferase II deficiency (CPT II) is a long-winded way of describing a fatty acid oxidation disorder that prevents the body from using fat. It's caused by enzymes that aren't properly functioning,…
You're doing everything right for your newborn baby, including having a heel stick so your child can be tested for a host of genetic abnormalities. Life is good. Weeks later,…
Say what you will about genetic testing—or testing in general—but North Carolina is finally feeling out the waters when it comes to newborn testing. The state is currently piloting a study…
You may have seen the Jeffery Modell Foundation's name around town, literally, from their educational posters. I was thrilled to come across one in the Chicago O'Hare International Airport. The…
If you recall, here at PatientWorthy, we've talked a lot about "newborn screening." In case you missed it: What Every New Mom Should Know About Tyrosinemia What Every Pregnant Woman…
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