How can I possibly show the deep appreciation that I have for the caregivers in my life with spinal muscular atrophy (SMA)? This is a question that burdens me often when I feel weak, inadequate, and overwhelmed by their compassion. But today is Caregiver Appreciation Day, so…
In children with spinal muscular atrophy (SMA) type 1, the most severe form of the genetic disease, treatment with Spinraza (nusinersen) restored levels of taurine — an amino acid that plays a role in the delivery of information between nerve cells — which were found to be low,…
Discussion
When I was little, SMA wasn’t widely known or understood. Its rarity meant that few people had heard of it unless they were confronted with it. Families like mine carried much of the responsibility of sharing our knowledge and experience to educate others, from friends to medical professionals, about…
The first patient has been dosed in a clinical trial testing GB221, a next-generation gene therapy for spinal muscular atrophy (SMA) type 1. “I would like to express our gratitude for the young child and family who were courageous in being the first to accept our investigational gene therapy…
Discussion
One of my rules is that nurses cannot care for me when they’re sick. Although this creates challenges, I don’t want to risk exposure. Because I live with SMA, the repercussions of a virus or other cause of illness on my health would be severe. Another thing that creates…
Damage to blood vessels in the spinal cord may play a role in nerve cell loss in spinal muscular atrophy (SMA), a new study suggests. A detailed examination of spinal cord tissue from infants who died from severe SMA detected abnormalities in the cells that line spinal cord blood…
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