A family foundation

muscles. “SMA is caused by a mutation in the SMN1 gene,” said Kelly Howell, associate director of the SMA Foundation, which was founded by Singh’s parents.

The SMN2 gene is a backup to SMN1. It does not produce SMN protein as efficiently as SMN1, but people can have multiple copies. “There’s a little bit of luck involved with SMA because it does have the backup gene that therapeutics can target,” Howell said. The more copies of SMN2 a person has, the less severe the disease will be. Evrysdi targets SMN2 throughout the body to increase the amount of protein created.

Spinraza “also targeted SMN2, but it only reaches the motor neurons in the spinal cord,” Howell said.

Singh credits the clinical trials she has participated in with her being able to live a full life with a progressive disease.

“I would argue that the most challenging part of SMA is not being able to keep up with the disease,” she said. “You acclimate to your life and then you lose function. For me the ability to stay at my baseline and stay stable is more than I could have ever asked for. Improved strength is only a huge bonus.”

Evrysdi has helped a great deal in stopping the regression in her muscle strength in the three years Singh has been part of the clinical trial. But she said she knows she “is coming from a place of extreme privilege and not what would be the normal path for someone with SMA at all.” Tiana Lopez, who has known Singh since their first year at Pauli Murray College, is one of those friends.

“She’s always so positive and always willing to persevere,” Lopez said. “I really think that even though she has these extremely harmful health scares and health issues, you would never know it because of how positive she is, how she is able to put you first.” That attitude allows Singh “to experience things in the fullest way,” Lopez said.

Another friend at Yale, Solana Craig, said of Singh, “I think she’s the best friend anyone could ever have. She’s so genuinely interested in your life, which is a great quality.” Singh and Craig often would leave campus to have dinner downtown. “She’s possibly the most social person I know … but she’s also the best student I know,” Craig said. “She always has her work done and on deadline.”

For Singh, it’s just natural to care about those on whom she depends. “Empathy has become really important to me,” she said. “My ability to live my life is entirely dependent on other people being there for me and other people’s goodwill. I feel that they do so much for me.”

She knows that when she goes to Blue State Coffee, someone will open the door. A friend will help put her books in her backpack or open a water bottle. “Because of SMA, my life has been one where I have to think 20 steps ahead,” she said.

Singh was diagnosed with spinal muscular atrophy at 18 months old. Her parents, Loren Eng and Dinakar Singh, launched the SMA Foundation shortly thereafter. The foundation is “a