Kim Thompson is feeling anxiety, gratitude, and many emotions as she sits in the infusion room at Gillette Children’s. Her older son, Caleb, 9, is about to receive an infusion of Elevidys, a new treatment recently approved by the Food and Drug Administration (FDA) for Duchenne muscular dystrophy (DMD).
Elevidys is a gene therapy treatment for DMD manufactured by Serapta Therapeutics that’s delivered into the body via a single intravenous (IV) infusion. At an estimated cost of $3 million for a one-time, single-dose intravenous infusion, Elevidys is known as one of the most expensive drugs in the world.
For parents of children diagnosed with DMD, they see Elevidys as a breakthrough to help their child deal with this genetic neuromuscular disorder. DMD causes progressive muscle loss and weakness. Eventually this leads to serious medical problems with the heart and lungs.
Many people who have DMD die in their 30s or 40s. The condition mostly affects males and is caused by a gene on the X chromosome changing (mutating) and failing to produce enough of the muscle protecting protein dystrophin.
FDA approval for Elevidys for some
In June 2023, based on clinical trials, the FDA granted accelerated approval for 4- and 5-year-olds who do not have other disqualifying conditions to receive Elevidys.
The FDA’s decision to approve the treatment for a small number of DMD patients was, at first, a mixed blessing for the Thompson family who live on a farm in the small, central Minnesota town of Verndale.
The FDA’s approval meant the Thompson’s younger son, Dawson, who is also diagnosed with DMD, would be eligible to be among the first patients to receive Elevidys because of his age and the fact that he was still able to walk.
Kim says knowing one of her sons would get the new treatment while her older son would have to wait on the sidelines was agonizing.
“It was a hard decision to let Dawson get the infusion,” Kim recalls. “We felt conflicted because Caleb was initially too old for the FDA window to get Elevidys. How could we tell Caleb that his brother was getting this new treatment, and he could not?”
A denial then a diagnosis
Kim and Rick Thompson began bringing their sons to Gillette in 2021 after genetic testing confirmed what they feared—Caleb had DMD.
“I was in denial,” Kim confesses. “I saw that Caleb had issues walking and climbing stairs. In my mind I feared it was DMD but hoped it might be something else.”
DMD was on Kim’s radar because her brother was diagnosed with the disease. She grew up seeing its devastating effects. Sadly, her brother died from the disease at the age of 20.
The Thompson’s first visit with Gillette pediatric neurologist, Jamie Eskuri, MD, gave them the support and education they needed. Once Caleb received his official diagnosis for DMD Dawson was tested and the family realized both boys had DMD.
“Right away we got along with Dr. Eskuri,” Kim recalls. “She was literally the first provider we saw at Gillette, and she told us to have hope. She said there were new treatments being developed and that Gillette was one of the places in the loop for these new tools.”
"Grab any lifejacket offered."
In early 2024 Dr. Eskuri called the Thompsons with the news that Dawson was eligible to be one of the first children to receive the Elevidys infusion.
“Dr. Eskuri told us about all of the side effects which include possible liver and heart damage,” Kim says. “She also told us about the long process involved in making sure Dawson’s body was prepared to receive the infusion and the possible issues we might have with our insurance company to get approval for this expensive treatment.”
Kim says it was a “really was a scary time. We knew this decision was life changing. I shared our concerns with Dr. Eskuri. She understood our reluctance but advised us to ‘grab any lifejacket offered.’ The Gillette team was hopeful that the FDA would expand their guidelines and soon Caleb would be offered the same treatment.”
Living apart to protect the children
Kim and her husband Rick, a farmer, were encouraged to live apart for a few weeks after Dawson first received his Elevidys infusion in March of 2024.
Dr. Eskuri and the neurology team at Gillette explained to the Thompsons that Elevidys works by using an adeno-associated virus (AAV) that would create antibodies with the possibility of making anyone who came in contact with the virus ineligible for future AAV-based therapy.
Due to the risk of exposing Caleb to the virus, it was especially important to keep the brothers apart for a month.
Kim lived in a bunk house on her in-law’s property with Dawson while Rick stayed in the family home with Caleb and daughter Emma.
“It was a really hard time,” Kim says. “Dawson was a very rambunctious 4-year-old, and I had to keep him inside and apart from other people. Caleb, Emma, and my husband would visit us, but they had to stay outside, and we could just see them through a window.”
Kim recalls it was a relief when her family could be reunited, and Dawson’s successful infusion made her even more anxious to get the same treatment for Caleb.
Disney and an important development
Shortly after Dawson’s Elevidys infusion, Dr. Eskuri referred Caleb to the Make-A-Wish Foundation which is an organization that creates life-changing experiences for children with serious illnesses. Caleb chose to go to Disney World in Orlando, Florida.
“We were grateful that Make-A-Wish granted Caleb’s wish and arranged his wish trip so fast,” Rick says. “ We stayed in the special Give Kids the World Village where there were other Make-A-Wish families. We were treated like royalty and had so much fun.”
Right before the family was to leave for Florida this fall, they got more good news in the form of a phone call from Dr. Eskuri.
“It was unbelievable,” Kim says. “Dr. Eskuri called us and said the FDA expanded access to Elevidys and our insurance approved the treatment for Caleb, and we could schedule it. We were worried that this would mean we could not go on the Disney trip, but Dr. Eskuri said, ‘Go on the trip and have fun!’ It was a time full of good things and emotions.”
The big day arrives
Fresh off their Disney vacation and after months of medical preparations and blood tests, Caleb’s big day finally arrived on September 26, 2024.
“I can’t really believe the day is here and Caleb is getting his infusion,” Kim says. “Caleb is nervous and hates needles, but he knows this is a big deal.”
The entire Thompson family is feeling the importance of the day. Aunt Jodie, who lives in a Twin Cities suburb, was on hand to help keep the boys occupied. She also provided a constant stream of snacks for the entire family.
“I’m a believer that fun food can help,” Jodie says with a smile as she sips a fancy coffee drink. “I was here for Dawson’s infusion and now I’m glad to be here for Caleb.”
The contents of a red plastic box change a life and a future
It was a long day for the Thompsons as many Gillette specialists checked and double-checked to make sure Caleb was ready to receive the Elevidys infusion. Caleb was examined by a complex care pediatrician, a cardiologist, Dr. Eskuri, members of the Gillette neurology team, several nurses, and other specialists.
Downstairs in the basement of Gillette, the pharmacy team was defrosting 32 vials of Elevidys so they could transfer the medication into 7 syringes that would get infused into Caleb’s arm.
Gillette pharmacy supervisor, Dawn Wolff, carefully placed the Elevidys bags into a special, red, plastic box to hand-deliver the drug to the infusion unit. Everyone is anxious as she takes the Elevidys on the elevator and through the hallways.
Infusion nurse, Lindsay Perez, RN, is ready when the Elevidys arrives and continues her process to make sure everything is set for Caleb’s infusion.
Caleb is carefully monitored during the infusion process and will continue to be monitored for several hours after he receives the Elevidys to make sure he’s tolerating it well.
A strong parent and provider partnership
“I’m pleased both Caleb and Dawson both received the Elevidys infusion,” Dr. Eskuri says. “The Thompsons have done everything right for their sons and have been incredible through this journey.”
As a pediatric neurologist, Dr. Eskuri works on the forefront of a new area of medicine. The past 10 years have brought significant research and change for several serious childhood conditions. The Gillette neurology team is a pioneer in the use of Spinraza and Zolgensma—two treatments for spinal muscular atrophy (SMA).
The Minnesota Department of Health recognizes Gillette’s leadership in these new treatments and has reached out to Dr. Eskuri and pediatric neurologist Randal Richardson, MD, for their expertise.
“Dr. Richardson and I have been invited to be on a Minnesota Department of Health task force to set up guidelines and procedures for newborn screening for Duchenne Muscular Dystrophy (DMD). Because of Elevidys and other possible new treatments, it’s important to get babies screened as soon as possible and to provide treatment options for families,” Dr. Eskuri says.
A hopeful future and strong results
Kim Thompson wants families also dealing with a diagnosis of DMD to hang on to hope.
“Take it one day at a time,” she advises. “At first you will feel sad and hopeless, but it does get easier. Know that your children can still have a good life and that there is HOPE.”
A few weeks after Caleb’s infusion Kim reports “Caleb and Dawson are doing great!” She says neither boy has had any negative side effects from the Elevidys infusion.
“Dawson is running and able to climb stair with ease,” Kim adds. “We brought Caleb to a pumpkin patch and he was able to walk through the entire corn maze without getting tired and need to use his wheelchair!”
The Thompsons are very pleased with what Gillette and the Elevidys infusion has meant to their sons.
“I’m hoping this treatment will allow the boys to stay strong at least throughout the rest of their childhood and to be able to run around and just be kids,” Kim says. “I hope someday a cure for this awful disease will be found so no one else has to go through it.”