Hatfield baby receives world's most expensive drug

Five month old baby with tanned skin lies on hospital bed smiling.

"Then we realise that the baby we are holding, that we've bonded with, might not even be with us in a few years' time.” - Credit: Supplied

A Hatfield baby with a fatal genetic disorder has been given the world’s most expensive drug just four weeks after the NHS approved the ground-breaking medicine. 

When Sebastian Stezaly was born in February 2021 he was a smiley and healthy-looking baby., and his parents, Jakub, 36, and Dharmisha, 30, moved to Hatfield to be closer to their family and enjoy nature.

At this point, they had no reason to believe that their first-born was suffering from a life-threatening, muscle-wasting disease - type one spinal muscular atrophy (SMA),

At 13 weeks old, Sebastian had a routine health appointment that showed his weight had dropped off the graph for his age group, but his parents were told not to worry at this stage.  

Five month old baby and parents smiling in a selfie

Dharmisha, Sebastian and Jakub. - Credit: Supplied

Dharmisha noticed he had a preferred head turn to the right and that she had to cradle him when she was holding him as he was unable to support his head.  

She took Sebastian to see a gastroenterologist for babies to examine why he wasn’t putting on weight. As a passing comment, she mentioned Sebastian’s preferred head turn and the doctor then started inspecting him for hypotonia, otherwise known as ‘floppy baby syndrome’.  

“Within a few weeks Sebastian was genetically tested and it confirmed our worst fears,” Dharmisha said. 

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“Jakub and I were having lots of really awful conversations because the lifespan of a child with type one SMA without any intervention is two years old. 

“We bought this baby home, we've started to imagine our lives together as a family. Then we read all of this stuff and realise that the baby we are holding, that we've bonded with, that I’ve breastfed, might not even be with us in a few years' time.” 

Young baby in bright red puffer coat sitting in a pram.

The lifespan of a child with type one SMA without any intervention is two years old. - Credit: Supplied

The longer the family waited until treating Sebastian, the worse his condition would get. Racing against time, they rushed to decide how best to save their son. The world’s most expensive drug, Zolgensma, was one option.  

Zolgensma is a gene therapy medicine for treating SMA. It costs £1.79 million per dose. It works like a virus, sending a protein to the spine, which Sebastian’s body doesn’t produce enough of by himself, which then sends signals to his muscles to encourage growth.  

The treatment stops further damage but it doesn’t reverse previous symptoms. Administering Zolgensma can be dangerous for babies and comes with many risks, but Jakub and Dharmisha wanted to give their child the best chance at living.

After ensuring Sebastian met the criteria for the treatment, Zolgensma was first administered on June 30. He had been diagnosed with SMA just 20 days before.  

“Those 20 days felt like a lifetime,” Jakub said. 

During the treatment, Sebastian was put on steroids to suppress his immune system so that it didn’t fight the drug.  

Watching the infusion, which is delivered via a drip, Dharmisha said: “It is the most underwhelming thing.

“You're watching the most expensive drive going to your child and it’s this clear liquid. It’s not glowing or neon,” she laughed. 

Sebastian will turn one year old on February 11. He has started to sit unassisted; he swallows well; he can throw spoons and grab toys.  

Baby with SMA in high chair with assisted knee pads and structures to hold him up.

Sebastian needs daily physiotherapy. - Credit: Supplied

“We get excited about every single small move he does,” said Jakub. “It is still hard when you think about what the future will bring but we just try to focus on what he can do, rather than what he can’t.” 

Dharmisha feels so grateful for Sebastian: “I don't think I would have would spend this much time on my child. Because if he was able to play independently on his own and he didn't need me, then I wouldn't, and I feel like we have such an appreciation for everything he does. 

“We have no expectations. And it's so liberating.” 

Baby in elf hat and two parents smiling in front of Christmas tree.

“We have no expectations. And it's so liberating.” - Credit: Supplied

Sebastian has daily physiotherapy and it’s not guaranteed whether he will walk in the future. But the experience has opened Dharmisha and Jakub’s eyes to making the world a more accessible place for everyone. And through her Instagram blog, she hopes to spread awareness about caring for a baby with SMA.