Anna Hendricksen wanted this for her daughter more than anything she dared to wish for.

She held her breath and spent hours in suspended hope as Gillette Children’s pediatric neurologist and neuromuscular clinic director, Randal Richardson, MD, and his team assessed her daughter, Annika. They took blood and urine samples and examined Annika to determine if she met the criteria to participate in the clinical trial and research into Spinraza ™, also called nusinersen, a drug to treat spinal muscular atrophy (SMA).

SMA is a muscular disease that affects the motor nerve cells in the spinal cord and gradually takes away a child’s physical strength. SMA is the most common genetic cause of infant death, affecting 1 in 11,000 infants annually. In Annika’s case, she couldn’t move her arms, legs, torso or head. She couldn’t vocalize or swallow. Breathing was difficult.

Annika has spinal muscular atrophy type 1 (or SMA 1), the most severe form of the disease. Before the family made the four-hour drive to Gillette for their first visit, Hendricksen and her mother, Deisy, could see Annika 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.

Annika began participating in the “Embrace” clinical trial at Gillette in March 2016. Her family didn’t notice any changes after her first session. “I admit, I was a little disappointed,” Anna says.  No one knew if Annika was getting Spinraza.

Besides Gillette, clinical trials for Spinraza were underway at several other hospitals in the U.S., Canada, France, Germany, Spain and Japan.

According to the Food and Drug Administration (FDA) website, patients in the trial were randomly assigned to receive Spinraza into the fluid surrounding the spinal cord, or undergo a mock procedure without drug injection.  Again, neither the parents nor the health care providers knew whether the treatment was given until the end of the trial, although the parents did agree to the possibility that their child would be randomly placed in the control (not receiving the drug) group.

As part of the trial, medical providers measured improvements in patient’s motor milestones, such as head control, sitting, ability to kick in the supine position, rolling, crawling, standing and walking.

The FDA eventually stopped the mock procedure portion of the trial early because Spinraza was proving to be so effective and it quickly approved the drug on December 23, 2016. According to the FDA’s website, approval was based on a trial where 40 percent of patients treated with Spinraza achieved improvement in motor milestones, whereas none of the control patients did. Because of this response, the FDA put the drug on a fast-track and allowed all patients in the trial to begin getting the drug, even before FDFA approval—including Annika.

“We found out Annika was not actually getting the drug. We drove back to Gillette from Green Bay, Wisconsin after Dr. Richardson explained the situation to us. Annika finally received Spinraza in October 2016,” Anna says.

The first two months of treatment with Spinraza requires patients to get what doctors call “loading doses.” That means patients get four lumbar punctures (spinal taps) in the first two months. After the first loading doses, patients get three lumbar punctures of Spinraza a year—and continue receiving the drug in such a manner for the foreseeable future.

Because of his work with the clinical trial of Spinraza, Richardson is not permitted to freely share his observations of patients taking the drug. But Annika’s mother and grandmother are eager to state their opinions.

“We saw some small improvements right away,” Anna says. “For example, Annika has better range of motion in her legs. She got back some strength in her jaw and began to vocalize. Her swallowing became more obvious and improved. She can now move her wrists and grasp objects.”

Grandmother Deisy also marvels at what she sees as an improvement. “Her smile is back!”

Although Annika is improving after receiving several doses of Spinraza, she still requires around the clock care. Anna and Deisy Hendricksen are devoted to providing this attention and giving Annika the best life possible.

As a result of SMA, Annika isn’t able to swallow on her own.  Her mother and grandmother are constantly by her side suctioning her saliva. Because she can’t swallow effectively, Annika is fed through a gastrostomy tube (G-tube). “I breast fed her for eight months and then she lost the ability to latch on herself,” Anna recalls. She continued to feed Annika breast milk through her G-tube and is an advocate encouraging parents to try to breast feed if possible.

Anna and Deisy work as a team and constantly move Annika to different positions to help avoid sores and circulation problems.  Caring for Annika is a never-ending job. “I sleep on the second floor of the house and Annika sleeps on the first floor with her mom,” Deisy Hendricksen explains. “I can hear every alarm and pop out of bed to help Anna care for her at night—or any time.”

At one point, the Hendricksen family had the help of several nurses to give them a bit of a respite. “But the nurses really didn’t work out for us,” Deisy says. “We decided no one could care for Annika as well as we can. So we decided to not have nurses and do all the care ourselves.”

Deisy knows many people are in awe of their schedule and the demands required when caring for a child who has SMA. “In the SMA community we joke, ‘the abnormal becomes the normal.’ This is just the way we have to live and what we want to do for Annika.”

Anna says her strong religious faith helps her face the challenges that come from watching her daughter deal with SMA. “With the Lord’s help we’re given the strength to face SMA head-on every day,” she says.

The Hendricksen family joins other parents of children who have SMA in hailing the FDA’s approval of Spinraza. They believe it’s a true breakthrough. While grateful for the progress, some have criticized the manufacturer of the drug, Biogen, because of the price the company set for Spinraza.  It’s been called the most expensive drug in the world and 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 a year.

Some insurance companies have been hesitant to cover the cost of Spinraza, even denying coverage for “on-label” dosing.

A spokeswoman for Biogen was quoted recently in the New York Times stating the company has consulted insurers about covering the drug.  She said Biogen set the price after considering several factors, including the cost to the health care system and the clinical value it brought to patients.

Gillette has no involvement in, or influence over, the price Biogen set for Spinraza and is working hard to help families navigate the insurance issues involved with getting coverage for the drug. Gillette pediatric neurologist, Randal Richardson, MD, and his team are helping families get prior authorization from insurance companies so their children can enroll in the program.

Prior to FDA approval of the drug, Biogen was offering an expanded access program for patients with SMA 1. Patients currently involved in the clinical research, like Annika, are getting the drug for free for the duration of the study. Richardson adds Gillette has made the decision to obtain Spinraza from a specialty pharmacy and will, therefore, not be adding to the cost of the drug itself. This can sometimes further complicate issues as not all insurance companies accept prescriptions from a specialty pharmacy.

Anna is breathing a bit easier now that her daughter Annika is getting Spinraza and showing improvements. “Annika has had five doses of the drug so far and each time we can see her getting better and stronger, Anna says. “We want to be that ray of hope for other families who have children with SMA. We’re grateful to Gillette and hopeful for Annika’s future.”