Updates
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Creating a Silver Lining to Every Story
Last week, I wrote about the harsh reality that sometimes is SMA. I retold the story of my attempt to drive through the mountains ... Read more -
#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD ... Read more -
3 Potential Blood Biomarkers of SMA Severity Validated in Study in Mouse Models
Researchers have validated three potential spinal muscular atrophy blood biomarkers as able to measure disease severity in mouse models of severe and intermediate forms of ... Read more -
Siblings Form a Special Bond
Siblings. Ella has two of them, both older: Ava (11) and Henry (9). They face all of the typical adventures that kids their age ... Read more -
Why I’m Grateful for My ‘Normal’ Education
“Normal” isn’t exactly a word that describes anyone with SMA. We do things differently than most people, have different challenges, and live unabashedly abnormal ... Read more
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Spinal Surgery Shouldn’t Preclude Access to Spinraza, Polish SMA Expert Argues
Polish orthopedic surgeon Tomasz Potaczek says people with spinal muscular atrophy (SMA) who have ... -
Success with My ‘Hamilton’ Adventure
I was nervous about “Hamilton.” For one thing, I’d listened to the original cast ... -
Polish Nutritionist Stresses Importance of Proper Diet in Managing SMA
Parents of children with spinal muscular atrophy (SMA) — as well as doctors — often don’t ... -
British SMA Patients, Families Protest NICE Reluctance to Fund Spinraza
For the first time ever, British spinal muscular atrophy (SMA) patients and their families ... -
My Labor Day Weekend Was Action-packed and Challenging
In my last column, “Meticulous or Ridiculous?”, I mentioned that I was traveling to ...
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Researchers Discover Promising New Gene Therapy Approach for Spinal Muscular Atrophy
News
A new genetic approach to restore the expression of the gene that causes spinal muscular atrophy (SMA) in patients’ cells holds promise to effectively and permanently treat the disease, researchers suggest. The study, “Seamless genetic conversion of SMN2 ... Read more