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 Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
Polish orthopedic surgeon Tomasz Potaczek says people with spinal muscular atrophy (SMA) who have had surgery to correct scoliosis are routinely denied access to Spinraza (nusinersen) because of the difficulty in administering the injections intrathecally (via the spinal canal). To correct what he calls this “injustice,” Potaczek has…
Parents of children with spinal muscular atrophy (SMA) — as well as doctors — often don’t give enough importance to the role good nutrition plays in improving patients’ quality of life, said a leading Polish SMA expert. Eva Toporowska, a pediatric gastroenterologist at the Medical University of Lodz, spoke on “Diet and…
For the first time ever, British spinal muscular atrophy (SMA) patients and their families have taken to the streets to voice anger over a draft recommendation not to provide government funds to cover the cost of Spinraza (nusinersen) to treat the disease. Apparently, the noisy protests have had…
Lukasz Szczepara showed up to a recent spinal muscular atrophy (SMA) conference in Poland wearing a camouflage T-shirt emblazoned with the words “Deadly Serious.” It was no coincidence. Szczepara and his Venezuelan wife, Yndhira Ramírez, have made it their life’s mission to ensure one thing: the health of their younger…
Lifesaving therapies like Spinraza (nusinersen) and others still in trials are indeed important breakthroughs for patients with spinal muscular atrophy (SMA), but they’re still no substitute for time-honored medical strategies like early, machine-assisted ventilation that vastly improve quality of life. So says respiratory physiotherapist Miguel R. Gonçalves, MD, of Portugal’s…
Zosia Malkowska looks and acts like a perfectly healthy, happy 2-year-old. No one observing the girl — whose antics stole the show at the opening of last week’s 6th Polish SMA Conference in Warsaw — would guess she had been born with spinal muscular atrophy (SMA). That’s because Zosia is relatively…
Spinal muscular atrophy (SMA) is just as serious a problem in Poland and other former Soviet satellite states and republics, yet access to the latest in therapies and information about the disease still lags behind that of North America and Western Europe. To address those shortcomings, SMA Foundation…
Devastating. Heartbreaking. A death sentence for an estimated 1,000 children with spinal muscular atrophy (SMA). These are among the many angry reactions to Tuesday’s appraisal consultation document issued by a committee of Britain’s independent, government-funded National Institute of Health and Care Excellence (NICE). That opinion recommends against Spinraza (nusinersen), an…
At sunset on the second Saturday of every August, it’s a tradition to light candles in memory of those who have died of spinal muscular atrophy — and to honor those currently living with the disease. Cure SMA says the candle-lighting ritual — which this year falls on Saturday, Aug. 11 — is only one way to spread the word during SMA Awareness Month. Others include attending an Awareness Day with a local major or minor league baseball team, requesting a proclamation from state or local government, hosting an awareness-themed fundraiser, contacting local media or celebrities, and participating in social media awareness efforts. Upcoming baseball games with an SMA Awareness Month theme will be sponsored Aug. 19 by the Chicago White Sox at Guaranteed Rate Field; Aug. 20 by the Boston Red Sox at Fenway Park; Aug. 24 by the Arizona Diamondbacks at Chase Field in Phoenix; Aug. 26 by the New Hampshire Fisher Cats in Manchester; and Aug. 26 by the Tampa Bay Rays at St. Petersburg’s Tropicana Field. SMA, the leading genetic cause of death for infants, affects the motor nerve cells in the spinal cord, robbing patients of the ability to walk, eat or breathe. About one in 11,000 babies is born with SMA; nearly eight million Americans are genetic carriers. Cure SMA had a major breakthrough in December 2016, when the U.S. Food and Drug Administration (FDA) approved Spinraza (nusinersen), manufactured by Biogen. The FDA approved Spinraza without restrictions, and insurance generally covers 90 percent of cases for types 1, 2 and 3. Cure SMA now represents about 7,000 of the nation’s estimated 10,000 SMA patients, according to a recent speech by its president and CEO, Kenneth Hobby. The Chicago-based nonprofit — founded in 1984 — operates on an annual budget of $11 million. Hobby said it has spent $70 million to date on research, and some 4,000 families benefit from its services, Each year, the organization asks supporters to submit their SMA Awareness Month photos to its Facebook page. The group can also be tagged on Twitter and Instagram using the #cureSMA hashtag. Alternatively, photos may be emailed to [email protected] with “SMA community album” in the subject line. For more information, visit Cure SMA’s events calendar, download an awareness and advocacy kit (including key information about SMA that can be useful when composing a blog post or sponsor request letter), or request a medical professional awareness kit to share with primary care providers, neurologists, nurses or therapists. In Australia, where the government recently authorized insurance coverage for Spinraza for people under 18, Melbourne-based SMA Australia will host its inaugural SMA 24-Hour Challenge on Aug. 30. The organization supports people living with SMA through its cough assist and well-being programs, as well as through palliative care. “Our federal government has done an incredible job to make the drug accessible to children, but more needs to be done for adults,” said SMA Australia CEO Juli Cini, who lost two children to the disease. “I encourage everyone to get behind our 24-Hour Challenge, which will further help us in our work that supports Australians living with SMA and their families.”
