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When Grace Grutter’s daughter, Nella, was six weeks old, Grutter suspected something was wrong. During tummy time, Nella stopped holding herself up and cried and fussed. Then she quit moving her legs. While Grutter visited the pediatrician several times, it wasn’t until Nella was 11 weeks old that a doctor made a diagnosis.
“It was (Spinal Muscular Atrophy) type 1,” Grutter, 31, of Kansas City, told TODAY. “It was suffocating and paralyzing grief. We were told she had weeks and months left to live.”
Spinal muscular atrophy is a rare genetic disorder that causes the loss of motor neurons. Children with SMA struggle to move, walk, swallow, and in some cases, even breathe. Type 1, which is what Nella has, is the most severe stage and begins the earliest in children. Though still not well-known, SMA is considered the most common fatal genetic disease in infants.
Grutter shared Nella’s experiences with the Missouri legislature to support a bill that would institute newborn screening for SMA. Missouri Representative Becky Ruth — who lost a grandchild to a rare disease — sponsored the bill. The Grutters were one of several families to testify, and thanks to their efforts, Missouri became the first state in the country to require SMA screening for newborns, meaning those who test positive can be treated immediately.
“You just don’t want any other parent to experience those crushing feelings,” Grutter said. “I think newborn screening is the way to go in catching as many cases as you can.”
When Nella was born in 2013, there were no drugs to treat SMA, but the Grutters do use several therapies, such as a BiPAP breathing machine and an abdomen-inserted G-tube, which help Nella thrive. Nella is now 4 and thanks to early intervention, has exceeded her doctor’s expectations.
“She is so incredibly happy,” Grutter said. “I know that every minute has been worth it.”
In December 2016, the U.S. FDA approved a drug, Spinraza, to treat SMA. While it doesn’t cure the disease, it reduces the need for ventilation and improves overall quality of life. Most of the early evidence shows that the drug works better if it is administered before symptoms begin, making infant screenings even more important.
“It is crazy if you think about it. If we screened all newborns for this we could essentially eliminate SMA,” Grutter said.
Leslie Derrington, 38, of St. Louis, also advocated for screening in the Missouri House and Senate. When Derrington’s daughter, Tilly, 7, first became ill, doctors did not consider SMA. Tilly still wasn’t sitting at 8 months and she stopped reaching development milestones, but doctors said Tilly was normal and physical therapy would help her. Finally, when she was 21 months old, the family learned she had SMA type 2.
“Because it is a rare disease most doctors don’t look at a child and think SMA,” Derrington told TODAY. “I certainly had no idea what we were getting into.”
Derrington wishes she had known about SMA earlier so Tilly could have been treated early, but there have been improvements. When Tilly was 5, she participated in a clinical trial for Spinraza. Tilly still uses a wheelchair, but doesn’t feel exhausted as often as she once did, and now can roll over and propel herself for short distances in a walker. Derrington has heard of infants who start the drug before their symptoms begin who can now walk, demonstrating the importance of early screening.
“Now that there is this treatment that is proven to be the most effective in early intervention, it is the way to change the future of SMA,” she said. “I would just hate for any child with this diagnosis to miss that window of opportunity, to miss living a normal life.”
Families in Texas will be testifying in support of newborn screenings in the coming weeks, and Grutter and Derrington hope that other states will soon adopt infant screening.
“Ultimately worldwide screening, that would be the dream,” Derrington said. “I’m beyond happy for every child … that will receive treatment. But there’s a lot to do still.