After Being Part of a Crucial Spinal Muscular Atrophy Trial, a Family’s Future Remains Uncertain

According to a story from Palo Alto Online, it was only a few months into the life of Aleksandr Kostanyan when parents Svetlana Sargsyan and Tigran Kostanyan realized that something was wrong. Soon, he was diagnosed with type 1 spinal muscular atrophy, a potentially fatal rare disease. In the family’s native Armenia, it was effectively a death sentence. Doctors told them that his days were numbered and that they should cherish their remaining time together. No treatments were available in Armenia and getting drugs from outside the country there was practically impossible too. Then, news of a clinical trial in the US reached them and they traveled there to participate.

About Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.

Aleksandr’s Story

Aleksandr participated in a trial for Zolgensma, a recently approved gene therapy for the disease. While the drug has restored a lot of the boy’s strength, he is still plagued by difficulties with swallowing and eating and he still doesn’t have normal levels of muscle power and movement. There is still more that should be done, but the trial is over now and the family’s visas are set to expire. Going to back to Armenia is not a good option; Aleksandr couldn’t get treated there and there is still a strong stigma against disability in Armenian culture; his chances of a near normal life would be completely gone.

The parents both have experience as teachers and hope to be able to translate those skills into a US classroom. Staying in the US is also the only way that Aleksandr could get an education that suits his needs. Over the years, they have settled into life here. The family has started up a GoFundMe page to help them be able to stay in California. If you would like to support Aleksandr’s family, click here.

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