Columns

If you regularly read what I write, you’ll know that whether you have a rare disease or not, I have similar emotions and thoughts as everyone else. Yet, the medical symptoms I experience from SMA must seem completely foreign to anyone who doesn’t live through…

It’s been three years since COVID-19 lockdowns were implemented around the world. When that happened, time seemed to grind to a halt as the world intently followed the latest public health announcements. Plans were ripped apart as businesses all around us were shuttered. Three years later, as we’re…

Centogene has launched a new genetic sequencing assay to support faster and more accurate diagnoses of rare diseases, such as spinal muscular atrophy (SMA). Called NEW CentoGenome, the assay combines advanced genetic sequencing with clinical information housed in the company’s rare disease Biodatabank. “As a…

Machines are a vital and everyday component of my existence. There’s the BiPAP machine pumping air into my lungs when I go to sleep. It sits on my nightstand above my cough assist, another device designed to help improve my respiratory function. Then there’s my Jaco robotic…

Note: This column describes the author’s own experiences with Evrysdi. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. I never thought it would be this difficult to secure a life-altering treatment. This is about my best friend…

Unusual mutations in the SMN1 gene, the underlying cause of spinal muscular atrophy (SMA), were detected in two young patients using ultra-long read sequencing (ultra-LRS), a method to analyze large segments of DNA. “Our study highlights the importance of ultra-LRS in the clinical application of SMA,” the researchers…

While living with SMA, I’ve been on the receiving end of many people’s misconceptions about the disease. To an extent, I understand their lack of awareness; there are many diseases and conditions that I don’t know about, either. But there’s a fine line between not understanding the complexities…

Akron Children’s Hospital in Ohio has been awarded $1.3 million to optimize palliative care practices for children living with chronic diseases such as spinal muscular atrophy (SMA). The funding comes from the National Institute of Nursing Research (NINR), part of the U.S. National Institutes of Health (NIH). Palliative…

Our spring break kicked off on April 6 with an early release for students. I fell into the lengthy car line at 11:30 a.m. to pick up our grandkids, Clara, a first grader, and James, who’s in pre-K. Both had been giddily counting down to this time…

Children and adolescents in New Zealand with spinal muscular atrophy (SMA) will be able to access Evrysdi (risdiplan) through the country’s publicly funded healthcare system, starting in May. The decision by New Zealand’s Pharmaceutical Management Agency, known as Pharmac, means eligible patients will now have access to…