A Mother's Fight To Save Her Baby From A Spinal Muscular Atrophy

How One Mom Has Launched A Global Fight To Save Her Baby

December 30, 2020 Updated January 14, 2021

Mothers-Fight-To-Save-Her-Baby
Courtesy of Anna Kudriavska

There are a few universal truths I’ve accepted in my adult life. One, the universe isn’t always fair. Two, sometimes the thing that isn’t ever supposed to happen does happen—for better or worse. And three, a mother’s love can perform miracles.

That’s what Anna Kudriavska, a mother in the Ukraine, is trying to do—perform a miracle for her son who suffers from a rare, life-threatening condition that can be treated by a medication that costs upward of two million dollars.

Anna’s son, Yehor, or Egor in English, is a one-year-old baby who, like most one-year-olds, enjoys keeping his parents up all night and making a mess with his food. Like most one-year-olds, he has to bear the agony of teething and diaper changes when there’s something more fun to be done. But unlike most one-year-olds, he also suffers from a disease called Spinal muscular atrophy, which requires one to three hour rehabilitation sessions five times a week.

Courtesy of Anna Kudriavska

Spinal muscular atrophy (SMA) is “a genetic disorder characterized by weakness and wasting in muscles used for movement (skeletal muscles).” In children who suffer from SMA, the SMN1 gene is either absent or not functioning correctly, which means the body is not making enough survival motor neuron (SMN) protein. SMN protein is crucial for muscle movement, and without this protein, activities like breathing, speaking, lifting the head, become difficult. The condition is progressive and worsens with age.

Egor suffers from SMA Type II, the most common of the SMA types, which range from Type 0—which is most severe and often fatal during infancy—to Type IV, which begins in early adulthood. In many cases, children with SMA Type II show symptoms between six and 18 months of age, and children who are affected by this condition typically can sit and hold their heads, but cannot walk or run. As the condition worsens, they may need more support, including permanent breathing support, and many suffer from “respiratory muscle weakness that can be life-threatening.”

Courtesy of Anna Kudriavska

His symptoms first presented when he was about four and a half months old and his family noticed a tremor in his limbs. Five specialists later, they were told Egor would grow out of his tremors. But at nine and a half months old, when Egor showed no strength in his legs, the SMA diagnosis was confirmed.

Egor’s mother, Anna, was devastated, but not broken. She researched. She planned. She prepared to fight. Anna quickly put two plans in place. First, she received a work permit and moved to Poland, where she received health insurance that would cover Spinraza, a medication for SMA that must be administered regularly via spinal infusion. Early on, she knew that this plan was only temporary. Her work visa was not guaranteed, and she would not be able to stay in Poland with her son.

Courtesy of Anna Kudriavska

Her second plan required more time, but it had the potential to create a miracle that would last a lifetime. It involved a drug called Zolgensma.

Zolgensma is a gene therapy that was approved by the FDA in 2019. It works unlike any other drug on the market to treat SMA, by targeting the “genetic root cause of SMA.” It replaces the missing or nonfunctional SMN1 gene with a gene that is able to tell the motor neuron cells to make SMN protein. This drug stops the progression of SMA and protects the remaining muscle function. It could be a lifesaver. It could be a miracle.

In Egor’s case, it could also be out of reach. The drug has been called “the most expensive drug on the market,” and is priced at a stunning cost of $2.125 million per patient for the single dose, one-time, IV-treatment. In October of this year, Egor’s family received a hospital estimate from University Hospitals Cleveland Medical Center quoting $2.3 million dollars—assuming no complications.

Courtesy of Anna Kudriavska

Two million dollars. It would be reasonable if upon reading that, your first reaction is fury—mine was. To price a medication that has a high chance of saving a baby’s life at a cost that most families (especially those without insurance) cannot pay feels unconscionable. But Egor’s mother was simply thankful that the medication existed. She noted in an email with Scary Mommy that if her son had been born five years earlier, he would have no hope. For her, there was gratitude and there was hope, and there was the truth that a mother’s love can perform miracles.

Anna started a fundraiser in her home country. But due to COVID, the ways she could fundraise were limited to online only, and it quickly became clear that their goal would be almost impossible with only Ukrainian support. Because GoFundMe does not allow people based in the Ukraine to open fundraisers, a friend living in Austria started a GoFundMe for the family, and Anna has taken her effort global. A mother’s love can do that kind of thing.

Courtesy of Anna Kudriavska

Particularly when time is of the essence. Zolgensma must be administered before the child is two years old, and every day counts. With each passing day, motor neuron cells weaken and die in patients who suffer from SMA. Zolgensma “cannot reverse the damage already caused by SMA before treatment.” It can only preserve what is left. Anna estimates that her family has about ten months left to receive the treatment.

The truth is, Zolgensma is not a cure. Even after Egor receives Zolgensma, he’ll need specialized care. He’ll need to continue his rehabilitation sessions for the rest of his life and be under the observation of a neurologist, orthopedist, rehabilitation specialist, pulmonologist, and gastroenterologist. But it is a drug that can save and change a little baby’s life, and can keep open doors that might otherwise have closed. It’s a drug that can feel like a miracle to a mother whose love is nothing short of extraordinary.

Click here to contribute to Egor’s GoFundMe.