The family has been in the United States since March 2018, staying at the Ronald McDonald House at Stanford while Aleksandr participates in a clinical trial for the drug Zolgensma, which has since received approval from the Food and Drug Administration to treat SMA. However, the clinical trial at Stanford Hospital is now over and the family's visas are set to expire in September, meaning that Aleksandr and his family may have to return to Armenia, where he will no longer have access to treatment.
SMA is an autosomal recessive genetic disease caused by a mutation. Cells with this mutation can't produce a protein called survival motor neuron (SMN), and without it, nerve cells begin to die, according to CureSMA, a national nonprofit that funds SMA research. This prevents people from being able to control muscle movements and eventually leads to difficulty swallowing and breathing. Babies with Type I SMA like Aleksandr typically start showing symptoms a few months after birth. As the neurons continue to die off, infants have a harder time swallowing and breathing, and those with Type 1 SMA generally don't live past 2 years old.
When Aleksandr was first diagnosed, his parents took their son to specialists in Armenia, all of whom told the couple that their son's condition was incurable.
"The doctors from Armenia didn't know about the treatments," Kostanyan said. "They thought there were no treatments. They said, 'You will lose your baby. Go home.'"
But the couple did not give up. They reached out to other countries, including France, Belgium and Canada, searching for a treatment and scoured government clinical trial sites until they found the study at Stanford Hospital that focused on Type I SMA.
After looking over his test results, doctors at Stanford determined that Aleksandr was likely a good candidate for the study. They brought him to the U.S., conducted more tests and admitted him into phase three of the AveXis clinical trial, which tested the drug Zolgensma. At 3 1/2 months old, Aleksandr received the drug, which works by replacing the defective SMN1 gene with a functional one so that cells can produce their own SMN protein.
The treatment, Sargsyan said, has been transformational. Aleksandr regained his ability to move his arms and legs; control his head and neck muscles; and sit up for short periods of time. He has been attending physical, occupational and aquatic therapy for the past year to help strengthen and develop his muscles.
However, despite all of Aleksandr's progress, he still requires extensive treatment and therapy. He has difficulty eating and swallowing, and his parents must take extra precautions to ensure that he doesn't develop pneumonia or other respiratory illnesses. He relies on a stroller to get around and wears a special brace to correct his scoliosis.
The family is currently working with a paralegal to change their B-1 visa to one that would allow them to stay and work in the U.S. legally, and they have started a GoFundMe campaign with a goal of raising $100,000 to help cover the cost of staying in California. Remaining in the U.S. would allow Aleksandr to continue receiving physical therapy and educational programs designed for children with SMA, who are often very bright but cannot be in a traditional classroom setting where they would have to sit up or stay in one position for long periods of time.
Despite the overarching uncertainty about their future, the family has been settling in to their new life in the Bay Area. They've been attending services at an Armenian church in Cupertino and their older son, Davit, recently started seventh grade at JLS Middle School.
Sargsyan and Kostanyan worked as teachers in Yerevan, Sargsyan as a science and technology teacher at a French language school and Kostanyan as an information technology professor at a university. They have been looking for jobs in the area, although Sargsyan said they may need to take some English classes and get an American teaching certification first. She's looking into other fields, such as translation, where she could take Aleksandr with her.
Still, the family says, they are immensely grateful for the help they have received here from the doctors, CureSMA, AveXis and community members, and want to find a way to give back.
"We want to do something good for this country," Sargsyan said. "We had no hope, we had nothing, and suddenly, (America) saved the life of this treasure."