Nusinersen story

All babies born in Minnesota are now being screened for spinal muscular atrophy (SMA) unless their parents opt out of the newborn screening, the Minnesota Department of Health recently announced. SMA is the leading genetic cause of early childhood death in the United States….

One of the nation's leaders in pushing to develop a screening and helping SMA families is Gillette pediatric neurologist and neuromuscular clinic director Randal Richardson, MD. He and his team are part of the cutting-edge research into Spinraza ™, also called nusinersen, a drug to treat SMA….

“I don’t think this is a cure for SMA, but I’m upfront with parents and tell them the interim clinical trials show stabilization and some evidence for improvement for kids with SMA. It offers hope,” Richardson says.

Richardson is working with the Hendrickson family to help 3-year-old Annika receive Spinraza. Her mother says as a result of the drug, it’s been a year full of more smiles, attempts at singing and increased movement for Annika.

These developments, which might seem small, are heralded as big achievements by Annika’s mom and grandmother. They’re eager to share what they see as big improvements for Annika since she started taking Spinraza.

Annika began participating in the EMBRACE clinical trial to research the drug at Gillette Children’s Specialty Healthcare in March 2016. Since her initial “loading dose” she’s had eight doses of Spinraza, which is given via a lumbar puncture also known as a spinal tap. She’ll continue to get three doses a year of Spinraza for the foreseeable future.

Every few months the Hendricksens travel from their home in Green Bay, Wisconsin to see Richardson and his team…

Annika has spinal muscular atrophy type 1 (or SMA 1), the most severe form of the disease. Before Annika began receiving Spinraza her mother, Anna, and grandmother, Deisy, could see her slipping away.

“One day I looked at my granddaughter and she lost the ability to even smile. To me, it seemed like she was melting away before our eyes,” Deisy says…

They marvel at the changes in Annika’s life due to the Spinraza. “I’m taking Annika on family adventures like my parents did when I was little,” her mom Anna gushes. “This is something I was not sure would be possible when she was first diagnosed with SMA 1.”

“We took her to Disney World in Orlando, Florida to attend a meeting of Cure SMA families,” Anna says.  “She met Mickey Mouse, Snow White and Cinderella. We even rode some rides.”

This past summer Annika took her first ferry ride during a family vacation to Washington Island, Wisconsin to see the Lavender field farms. “To get Annika out on the water and seeing her big smile is something I’ll never forget,” Anna says. “I believe all of these adventures with Annika are possible thanks to her improving condition since taking Spinraza.”…

The Hendricksens join other parents of children who have SMA in being grateful for their child’s progress and being concerned about the high cost of the drug. Spinraza is an expensive drug. The manufacturer, Biogen, sets the price for Spinraza and it has a cost of about $750,000 to cover the six doses required in the first year and about $375,000 annually to cover three doses per year.

https://www.gillettechildrens.org/khm/newborn-screenings-for-spinal-muscular-atrophy-and-treatment-brings-hope