Janek Kozub, who suffers from SMA, received the “most expensive medicine in the world” thanks to financial support – also from TVN24 viewers. How has the boy’s life changed?
Janek Kozub is getting stronger. Maybe not like a lion yet, but he’s taking the next steps. – He had huge mobility problems. He was a baby who practically didn’t move. In addition, there are huge problems with eating and breathing – says Paulina Kozub, Janek’s mother.
The boy was born with type 1 spinal muscular atrophy before newborn screening for SMA was introduced and before modern gene therapy, the “most expensive drug in the world” worth millions, was included on the list of reimbursed drugs. – It was a very difficult fight. At the same time, a child being diagnosed with such a disease and starting a collection for such an amount – adds Janek’s mother.
PLN 9.5 million was collected in 79 days thanks to the support of almost 180,000 people. Among them were TVN24 viewers, because Janek and his parents often appeared on our channels. – We love Janek very much. It is so difficult that as if this love is not enough, we only need so much cash, which is unrealistic – said the boy’s mother in 2021.
The story of Janek, who was diagnosed with the disease when he was three months old, touched many hearts and thanks to this, Janek was given therapy only once in his life, but before his weight exceeded 13.5 kilograms, when he was six months old.
Two years have passed since this breakthrough moment. – He is with us, he has retained his vital functions, he breathes, he eats on his own, he is without a feeding tube, so that’s what we fought for, to stop the progression of the disease. We managed to do it – admits Krystian Kozub, Janek’s father.
The boy’s muscles no longer atrophy, and Janek, who uses a wheelchair and swallows fluids on his own, is making progress – instead of the disease. Before the medicine was administered, the boy was struggling for every breath. The TVN24 editorial team talked to the boy’s physiotherapist about what it is like now. – Gene therapy in Janek’s case actually made the therapy more effective, he became stronger and breathed better. We have fewer infections, exacerbations of bronchopulmonary disease, and less need for hospitalization due to illness – explains Mikołaj Kowalski, a physiotherapy specialist.
A breakthrough in treatment
Much has changed in the treatment of SMA after newborn screening was introduced throughout Poland. From September 2022, reimbursed gene therapy is reserved for children up to six months of age. – Thanks to this program, we are able to diagnose these newborns in the first or second week of life and they receive therapy in the pre-symptomatic period, when no clinical symptoms of the disease have occurred – explains Professor Monika Gos, laboratory diagnostician, Institute of Mother and Child in Warsaw . – The effects are spectacularly positive. We are talking about a great breakthrough, a miracle in fact, when it comes to the treatment of SMA, because this is the most satisfying group of patients for us, as pediatric neurologists, adds Elżbieta Stawicka, MD, PhD, pediatric neurologist, Institute of Mother and Child in Warsaw.
Children who receive gene therapy before symptoms develop develop like their peers. However, Janek experienced irreversible changes. – The drug stopped the progression of the disease, but unfortunately what was damaged in his body, the motor neurons that died, died, well, they will not rebuild, so let’s say the part that was left, Janek now has to catch up with rehabilitation – says Krystian Kozub.
There are five more children in Poland who are collecting money because they can be treated with gene therapy, but they do not qualify for reimbursement.
Main photo source: Fakty po Południu TVN24