Jaś [pron. yash] was born as a healthy and happy baby, with no signs of any disease. He developed well, started walking when he was 13 months.
A few weeks later he started to trip over for no reason. His knees would simply bend by themselves and he would fall down. He got bruised many times. He did not want to walk any more. We thought our little son got a freight so we stopped pushing him and gave him some time. But because the situation would not resolve by itself we went to a doctor. He referred us to a child neurologist who then referred us to a hospital.
The first time he was checked back in 2015 the cervical MRI showed normal. Another year passed and our little son was checked at the hospital again where, this time lumbar MRI showed… normal again.
We probed into his case further. We went for a nerve and muscle conduction studies in his little legs. He was only 18 months old at that time, so the pain was huge for such a little child, but he was very brave. They also took his blood for genetic tests. We waited for a long time for the results getting quite impatient. After a month the neurologist invited us for an appointment, where we heard the diagnosis – TYPE 3 SPINAL MUSCULAR ATROPHY.
Upon hearing the diagnosis we were devastated and terrified. I cried for a night and a day… But you know what? I have never asked that question: WHY US?
Somebody told me once: “God gave you a child with this illness cause he knew that you will mange, that you will not give up”.
Now it is all about a continuous physiotherapy through the public system but also privately. Jaś is doing great, he is not giving up but unfortunately the illness is progressing. He is no longer walking, he has to use a wheelchair.
Now he is 3.5 years young.
There is a light at the end of this tunnel – clinical studies. There is a medication called SPINRAZA (Nusinersen) but the cost of one year treatment is approx. €230 000.
SMA, or the Spinal Muscular Atrophy, is a genetic neuromuscular condition. When you have SMA the spinal nerves responsible for the work of your muscles slowly die and as a result your muscles get weaker and weaker until they completely disappear. SMA is the most serious genetically conditioned cause of death for babies and infants.
Children with SMA are usually intelligent, cheerful and enjoy life to the full – this is how our beloved Jaś is now.
Jaś’s father is a policeman. He fights with the evil. But when it comes to this criminal he is completely helpless. Let us all help Jaś to enjoy life as long as it is possible!!