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Kinga Rydz looks like so many other babies — chubby cheeks, a button nose, the faintest hint of down on her head, bright blue-gray eyes.
But to the practiced eye something is off. The 7-month-old’s head tilts ever so slightly to the left, a symptom of the rare and incurable genetic disease that has only a limited response to intervention and comes with an astronomical price tag.
Her mother, Justyna Rydz, had heard of spinal muscular atrophy (SMA) because a couple of years earlier another child’s parents close to where she lived in her native Poland had been collecting donations to treat the same condition. But at that time, she didn’t realize the gravity of the situation.
Now that her little girl has the debilitating illness, Rydz is painfully aware of what’s at stake.
“When we heard the diagnosis and the description from the doctor I started to cry really heavily,” the 34-year-old said through an interpreter during a Zoom interview from her home in Olsztyn, Poland. “The more he got into detail the more I got scared.”
SMA, as it’s commonly known, is a neuromuscular disease that affects about one in every 6,000 to 10,000 live births.
The condition is caused by missing or mutated genes that are responsible for making the protein that nerve cells in the brain stem and spinal cord need to survive.
Those cells, or motor neurons, in the central nervous system send signals to muscles that control movements such as swallowing, talking and breathing. Without enough of this protein, those muscle fibers weaken, shrink and die because of inactivity.
SMA exists in varying degrees of severity that are measured on a scale of 0 to 4. Infants with SMA Type 0 typically live only a few months after birth. By contrast, SMA Type 4 patients don’t become symptomatic until adulthood, and most have a normal lifespan.
Kinga has SMA Type 1, a description of babies whose bodies make very little of the all-important protein and, without intervention, have a life expectancy of two years or less.
Infants in this category can decline to the point that they can no longer turn their heads, sit up or roll over. Over time, they lose the ability to chew, swallow and even breathe on their own.
Although the survival rate for children with SMA Type 1 is improving with advances in respiratory care, Kinga still faces daunting odds.
The left side of Kinga’s body already is weaker than the right, even though the casual observer never would guess she was anything but the picture of health as she energetically squirms in her mother’s arms.
Doctors discovered Kinga’s disorder through a blood test that’s routinely done on newborns to screen for nearly three dozen diseases.
The lab called Rydz saying her baby likely had SMA, but it wanted to confirm the results with a DNA test.
Even so, she and her husband took the news in stride.
“At first, they were not even worried because they have no issues in the family, no genetic disorders of any sort,” said Agnieszka Klosinska, a second cousin of Rydz who lives in San Jose.
But after waiting for five days with Kinga in the hospital, Rydz’s optimism was crushed: Her baby had SMA.
The infant was just 16 days old when she received the first dose of Spinraza — a drug that costs $750,000 in U.S. dollars for the first year of treatment alone, followed by a $375,000 maintenance regimen every year thereafter.
Injected into her cerebrospinal fluid, the medication is designed to boost the production of the critical protein and is taken indefinitely. But although it can extend a child’s life, it’s not a cure.
Kinga also is receiving specialized therapy three times a week; During the 40-minute exercise sessions, clinicians stretch all her muscles and work on improving her balance.
“That poor girl never gets a break,” Klosinska said, noting that the exercises are strenuous. “For a baby, it’s tiring and uncomfortable.”
The clock is ticking because Spinraza only slows the progression of the disease.
Three years ago, a second gene therapy drug, Zolgensma, appeared on the scene. Studies have shown that it can stop SMA’s progression by replacing the missing or mutated genes with two that produce the all-important protein, even though it won’t reverse damage to the motor neurons. Limited research suggests that the drug leads to bigger and faster improvements in motor function than Spinraza.
Zolgensma is administered as a one-time intravenous infusion, but the hope it offers costs a staggering $2.1 million in the United States.
What’s more, it’s currently only approved for use on patients under 2 years old.
Although Poland’s free health care system covers the price tag for Spinraza, there is no reimbursement for Zolgensma.
So Klosinska has teamed up with her cousin to raise as much money as they can and keep Kinga in the running. They have turned to social media, setting up crowdfunding sites including a GoFundMe page.
The goal is to raise just over $2.3 million, enough to cover Zolgensma, as well as the cost of using a Polish website to promote Kinga’s cause. So far the campaign has raised the equivalent of more than $343,000, but it has a long way to go.
Life is hectic for Rydz, who not only is organizing fundraisers through Facebook and posting updates on her daughter for Polish-speaking supporters between doctors’ visits but also caring for her 2½-year-old son, Aleksander. Her husband is in the army and, stationed on the other side of the country, can only visit once a month.
“We do not have any time to feel any happiness at the moment because all we do is run,” Rydz said through her cousin.
“The only time we can have peace of mind is when we collect the money so she can get the medicine. There is always the hope that we will make it happen, but every single day, we wake up with worry.”
What keeps Rydz going is her little girl’s blissful unawareness of her predicament.
“One look at that face, that smile, and I have energy again,” she said.
How to help Baby Kinga
Residents of the United States may donate to Baby Kinga’s GoFundMe campaign at https://www.gofundme.com/f/kinga-rydz-cateam-smanomore.