Humor is my key to survival in life with SMA
The other day, I got my wheelchair stuck in a doorway. All I wanted to do was see the Christmas decorations at a local coffee shop. Perhaps even enjoy a nice cup of their matcha while quietly…
Columns
This Christmas, I’m thankful to have resolved some health complications
Thanksgiving and Christmas are holidays that make me grateful. I am thankful for the birth of my Lord and Savior, Jesus, and how he not only brought me through all the events of this year in one…
No one knows what they’re doing and everyone is doing their best
The magic of theater is that it’s live. Despite having a script, cues, rehearsals, and anything else the cast and crew can use to achieve consistency, the live nature of theater means the production remains…
Itvisma approval ushers in era of therapeutic choice for SMA patients
Last month’s approval of Novartis‘ one-time gene therapy Itvisma (onasemnogene abeparvovec-brve) for people with spinal muscular atrophy (SMA) ages 2 and older is a milestone that “ushers in a new era of informed…
There’s no place like home for the holidays
When I was 11 years old, I had pneumonia and spent the week before Christmas in the intensive care unit. Because I have SMA, my pulmonary functions are weaker, and when I get sick — even with a…
Newborn screening for SMA boosts health, saves money: Study review
A new review of studies from six countries reveals that incorporating spinal muscular atrophy (SMA) into newborn screening (NBS) programs yields clinical improvements and reduces healthcare spending, particularly when paired with presymptomatic treatment. “These results collectively…
Community is nonnegotiable for thriving with a rare disease
When I returned from the annual Cure SMA conference this summer, I knew something needed to change. I made a list of everything I’d been putting off, like finding a new therapist and setting up the photo…
Mifepristone boosts survival, muscle size in SMA mouse model
Mifepristone, a glucocorticoid blocker, increased survival and muscle size in a mouse model of spinal muscular atrophy (SMA), according to a recent study. Combining mifepristone with a gene therapy construct similar to the one used in…
Guest Voice: Instead of counting months, we’re focused on years
Our daughter, Charlie-Anne, was born on June 22, 2009. When the doctor handed her to me, I was shocked to see a full head of beautiful, red hair. I was instantly in love. I had been diagnosed…
A tribute to my mom, who wears many hats while managing my care
Every morning, after relieving the night nurse, my mom walks toward my bed. “Snookums!” she lovingly calls out when she sees that my eyes are open. It’s a nickname that comes straight from her…
Recent Posts
- Tips for finding friends and growing your friendship caregiving team
- My recent overnight sleep study was uncomfortable, but necessary
- Antipsychotic drug may help treat SMA symptoms, research shows
- The transition to adult healthcare brings both fear and gratitude
- Early nerve-muscle connection flaws set stage for SMA damage