Terminal muscle disease versus 6-year-old Szymek! Help, each zloty matters!

Szymek was a longed-for child of our dreams. We already had two daughters and we were impatiently waiting for the birth of our first son. We were the happiest when our seemingly healthy boy received an Apgar score of 10. We could not have expected what was to come...

Unfortunately, our happiness did not last long. A couple of months after his birth, it turned out that the blood test results are abnormal. The doctors started suspecting the worst but we were not able to acknowledge that. They were speaking about muscle dystrophy but this vision was too devastating for us, we did not want to believe it...

After all, no one in our family has been suffering from this disease and at that moment, no signs of it were not visible in our son’s case. Unfortunately, a genetic test only confirmed what the doctors had suspected. It turned out that our son is terminally ill. Duchenne muscular dystrophy attacked our little, vulnerable child...

This rare genetic disorder develops gradually and leads to weakness and eventually degradation of all muscles. It takes away autonomy and ability to move on one’s own, and with time, to breathe and swallow... It is a real nightmare!

Our world ended and each day was more and more challenging. From this moment we have had to cope with problems that no parent should experience. We noticed that our son develops more slowly and that the disease brutally interferes with our life...

We had to start rehabilitation. The first session was on his first birthday. Additionally, he also takes part in early childhood development support sessions. He also remains under specialist medical care like neurologist, cardiologist and orthopaedist.

In 2024, Szymek underwent an orthopaedic surgery in Children’s Hospital in Warsaw due to the contractures in his legs and toe walking. After the procedure, he was recovering for 4 months and had to learn again how to get up, sit and walk.

Unfortunately, he had to start taking steroids when he was 3 years old as they hinder the development of the disease by reducing muscle damage but at the same time, they have many side effects (hindering growth, osteoporosis, putting on weight, negative effect on the functioning of organs).

Fortunately, there is hope...an advanced gene therapy in the USA may stop the development of the disease!

Szymek has a gene mutation for which no treatment was available so far. When we learned about the new gene therapy it was too late for Szymek as there was the age limit. However, in June 2024 the limits were changed and our son can undergo this advanced therapy. It is the only chance to stop our son’s disease!

But there is an obstacle – money. The cost of this therapy is exorbitant. It is about 3.5 million dollars and there are also costs of tests, treatment, rehabilitation, care during the therapy, as well as flights and accommodation. We have to act! Apart from the disease, time is our biggest enemy. The sooner he receives the medicine, the better chance to stop the disease at its initial stage. It means that if he receives the medicine while he can still walk – there will be a chance to avoid using a wheelchair and progression of the disease. 

Despite his motor skills limitation and fatigue, Szymek is a very cheerful and smart boy. It can be confirmed by everyone who knows him. Many are amazed by his funny comments and extraordinary memory. However, the disease progresses, gradually taking away his ability – we can see it but he does not understand.

The older he gets, the more he notices his decreased motor skills in comparison to his friends. He cannot climb, ride a bike or run freely without falling down and enjoy his childhood the same way as his peers. The disease takes away his joy of life...

We cannot allow for this suffering to last. We have to save our son’s life and one thing is certain – it is not possible without your help...Please, do not allow for the worst to happen. Help us...

Szymek’s Parents