BLAINE — A soon-to-be 2-year-old is running out of time.
Before her second birthday on Sept. 6, Maddy needs a lifesaving treatment called Zolgensma, a gene therapy that costs $2.2 million. It might just be the most expensive drug in the world.
Maddy's mother, Blaine resident Angie Bruce, found out Maddy had spinal muscular atrophy (SMA) about halfway through her pregnancy. “I remember when I got the phone call from the doctors confirming that she had it ... I felt like I couldn't breathe. I just started crying and I had to hang up the phone and wait to call them back until I calmed down,” she said.
Bruce and her family had never heard of SMA and said they were not made aware that both she and Maddy's father, Mike Smith, were genetic carriers of SMA when they were pregnant with Maddy's brother Michael, who just turned 4.
According to CureSMA, SMA is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat or breathe. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness. SMA affects approximately one in 11,000 births, and about one in every 50 Americans is a genetic carrier. It is the number one genetic cause of death for infants.
Maddy was born five weeks early. At just the age of 2 days old she was given Spinraza, a drug that was approved by the FDA 10 months before she was born. The drug is injected into her spinal cord and keeps Maddy from having many
of the complications that other children with SMA experience. Every four months, Maddy has to go to the hospital for another dose, which costs $125,000. For the last few doses, doctors have had to sedate Maddy, which raised the price. Bruce's last medical bill came in at over $460,000. In Maddy's short lifetime, she has had nine doses, at a total cost of around $1.1 million.
Earlier this summer, Maddy's family attended the CureSMA conference in Anaheim, California, where they learned about Zolgensma. The therapy would replace the gene that Maddy is missing. The state of Minnesota approved the treatment for children under the age of 2 in December 2016. As an analogy, Bruce described Spinraza as similar to undergoing kidney dialysis and Zolgensma like receiving a kidney transplant.
Bruce says Medicaid has denied coverage of the $2.2 million drug on multiple occasions and ignored appeals from Maddy's doctors. Currently, Medicare, which is housed under the Department of Human Services, does not have a policy that covers Zolgensma.
Maddy's grandmother Sandy Davidson said, “It doesn't matter how rare it is, I don't know why the price has to be exorbitant. Is money worth more than this baby's life? No.” She added, “I want to raise awareness about the disease, about the treatment, about how exorbitant the price is. It shouldn't be this difficult for people to get help. You shouldn't have to jump through all of these hoops when you are dealing with life-and-death health issues of your child.”
These days Maddy is not able to walk, but recently started crawling thanks to a lot of physical therapy. A lot of children who have SMA rely on a wheelchair for mobility or are bedridden. Maddy is also not able to eat solid foods, only bottles, so the family is worried about what that will mean for her nutrition as she gets older.
“I should be looking forward to celebrating her second birthday, not worrying about trying to get her a $2 million drug that will change her life,” Bruce said. “I just want to see her running with her brother.”
As of press deadline, Maddy's GoFundMe page had raised over $8,660. For more information, or to donate, visit www.gofundme.com and search for “Maddy's Fight for Zolgensma.”
Editor Shannon Granholm can be reached at 651-407-1227 or firstname.lastname@example.org.