As reported in WTNH; in Stafford Springs, CN, the Pokorny family was rudely awakened to the world of rare diseases when their new daughter Olivia was born with spinal muscular atrophy (SMA). At the time of diagnosis, they were informed their daughter had an 8% chance of surviving the next two years without treatment. Two years later, a new medication has helped her maintain mobility they never thought possible – but she’s still living on borrowed time.
It’s important for SMA patients to receive a prompt diagnosis: if doctors spot the disorder before it has time to develop, they can prevent some of the deterioration. While Olivia’s condition had already progressed past the point of return, her experience is now being used to include SMA in the state’s newborn screening, in hopes of helping other families catch the illness before it’s manifests.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a rare genetic disorder characterized by weaken muscles. The disease causes a person’s muscles to become weak and degenerate over time. This can cause difficulty walking, sitting up, moving, and in more severe cases, difficulty swallowing and breathing. People’s experiences vary enormously in the severity of the condition and the age of onset, with some patient’s unable to function and others living relatively normal lives. The majority of cases are attributed to a genetic mutation that causes the death of motor neurons, a type of brain cell in the brainstem and spinal cord. The lack of motor neurons causes the muscles to become weak and atrophy. There is supportive treatments to prevent progression including physical therapy, medications, gastrostomy, respiratory support, and surgery. There is no cure.
“It’s like ALS or Lou Gehrig’s Disease in babies.”
Olivia’s mother Stacey Pokorney, explained, “The best way to describe this is it’s like ALS or Lou Gehrig’s Disease in babies.”
Due to SMA, Olivia struggles to control her movement, walk, talk, or eat. The disease is progressive, and her doctors forecast that her condition would mean she only had a couple of years of life.
The family was fortunate to see the wonders of the medical field come through in their daughter’s lifetime. In August, she began to take Evrysdi, a newly approved oral treatment for SMA. The medication improves a person’s motor control and breathing, in turn, elevating their quality of life.
For Olivia, it was a game changer. The family, who had been told to expect unrelenting digression got to see their daughter dramatically improve. She began to use sign language and has even said her first spoken words. This has been a blessing for a family that doesn’t have much time. Pokorney said,
“We were told she had a two-year, eight percent survival rate without treatment, so at this point, anything is a bonus.”
Olivia and the Newborn Screening
While Olivia’s condition wasn’t caught early enough to prevent some of the illness’s progression, she became an inspiration for adding SMA to the state’s newborn screening, and her medical results were used to inform the screening’s methodology. This screening helps other families identify the disease before the person may be symptomatic, before it progresses irreversibly. Her mother said,
“They had called me to see if they could use her blood sample to make sure the test worked. Anything we can do going forward to help others because if it’s caught early, the outcome can be very different.”
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Now, the family continues to do their best to keep their spunky toddler happy and healthy for as long as possible, and so far they’re pulling it – their daughter is bright and content. Meanwhile, they continue praying for a cure.
