When Svetlana Sargsyan and Tigran Kostanyan welcomed their second child in December 2017, they were overjoyed. Their son Aleksandr was a happy, healthy baby. However, within weeks, Aleksandr became less and less mobile, unable to move his arms and legs. Sargsyan and Kostanyan took their son to doctor after doctor in their hometown of Yerevan, Armenia, and when he was 52 days old, he received a diagnosis: spinal muscular atrophy Type 1.
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 spinal muscular atrophy (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 soon be forced to return to Armenia, where he will no longer have access to treatment. In addition, the stigma placed on people with disabilities in Armenia means that he may no longer have the opportunity to live a relatively normal life.
According to Sargsyan, those with disabilities have only recently found acceptance by some people in Armenia, but for many, disabilities are still seen as taboo.
"If someone is disabled, you have to keep them at home, don't tell the others you have a problem," Sargsyan said. In Yerevan, the infrastructure is not designed to accommodate a stroller like the one Aleksandr uses, meaning it would be hard for him to go outside. He would not have access to school because there are no programs that could accommodate his needs, and he would not have the opportunity to socialize with other children.
SMA is an autosomal recessive genetic disease caused by a mutation in the survival motor neuron gene 1 (SMN1), according to CureSMA, a national nonprofit that funds SMA research and supports families affected by SMA. Cells with this mutation can't produce a protein called survival motor neuron (SMN), and without it, nerve cells begin to die. 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 and lose their ability to move their arms and legs, hold up their heads or sit up. 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, Sargsyan said she was told that there was nothing the doctors could do. She and her husband took their son to specialists in Armenia, all of whom told the couple that their son's condition was incurable. They reached out to Biogen, a Massachusetts-based company that makes a drug called Spinraza, one of the few known treatments for SMA, only to be told that because they lived in Armenia, the company could not send them the drug.
"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.'"
Even friends and family members urged them to give up their search.
"When we wanted to try to find treatment in our country, everyone said, 'don't try because it's crazy, you cannot find something. Just enjoy this short time you have with him, don't torture your child,'" Sargsyan said.
But they 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 which 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 officially 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 eventually 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. The family is planning to attend the 17th Annual Northern California Walk-n-Roll for SMA in El Sobrante if they can arrange transportation. The event was organized by the Northern California chapter of CureSMA.
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."