Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare disease that causes progressive muscle loss and resultant muscle weakness. It is caused by a lack of motor neurons. It is a genetic condition caused by a recessive gene that must be carried by both parents. When this gene is carried by both individuals, there is still only a 25% chance a child will have the condition.

This condition affects patient’s whole body and can be fatal.

Thankfully, a new treatment called Evrysdi has significantly improved the quality of life of many patients.

Olivia Pokorny

Olivia is an 18 month old living with SMA. She began exhibiting symptoms at just 8 weeks when she broke out in a fever. Her tone and reflexes seemed off, and she was referred to a neurologist. In just two weeks she had her SMA diagnosis.

At the time, Olivia struggled to swallow, could only use one arm, and could only move her ankles not her entire legs.

The Treatment

In 2016 the first treatment for SMA was released. In 2019, when Olivia was diagnosed, two different treatments were available. Still, the two-year survival rate was only 8%. The first treatment was called Spinraza, which is administered with a shot in the spinal cord. The second is called Zolgensma, which is a gene therapy.

Ten days after Olivia had been diagnosed, she started the gene therapy treatment which works to replace the SMN1 gene that SMA patients are missing. Thankfully, the 2 million dollar drug was covered by the family’s insurance.

The family started to see Olivia slowly improve, but she was still unable to swallow. Her parents did more research. Through this, they discovered a drug called Evrysdi.

Evrysdi

Evrysdi is a liquid that must be taken every day. The drug boosts the function of the SMN2 gene. While the gene SMA patients are missing is SMN1, the copies of the SMN2 gene are what determine the severity of the condition. Olivia only had two copies. Some have eight.

This is still an investigative therapy, as researchers don’t know the long term effects it could have. But when studying rare disease therapies, this is unfortunately the case very often.

Olivia was able to receive the drug through the Early Access Program, allowing her to start it before it had FDA approval. Olivia hadn’t been able to participate in a clinical trial of the therapy because she had already had the Zolgensma treatment. But her parents were determined to get her Evrysdi, as it had been shown in trials to specifically improve swallowing.

But then, Evrysdi was approved by the FDA before Olivia had her first dose. She began the therapy in August of 2020 and has seen dramatic benefits. She can sit unassisted, swallow, move her tongue, and has stopped needing oxygen at night. The peaks and plateaus they had seen with the gene therapy are gone.

The drug is also convenient to take, as it is taken orally and doesn’t require anesthesia or painful administration through the spine.

Looking Forward

This family is still hoping for a cure. Although the treatments have helped dramatically she’s still not walking and sometimes has trouble breathing. Her life expectancy is still unclear.

But, the family is continuing to look at the positives. Olivia is extremely intelligent and is learning sign language. SMA doesn’t affect your intellect, and Olivia is clearly bright.

They’re hopeful for her future.

You can read Olivia’s full story here.