Our son Patryk was born with a death sentence: an incurable genetic disease known as SMA, or Spinal Muscular Atrophy, type 1. The disease gradually takes away the afflicted’s strength and motor skills down to the ability to move, eat and breathe. The wonderful life we’ve been planning fell apart, but we needed to put grief and disbelief aside in order to act. Patryk’s only chance is an expensive gene therapy conducted in the US. It stops the disease from developing, gradually gives back some of the lost motor functions, and the only thing standing in our way is its unimaginably high cost. We have no choice, we’re not giving up, and we ask for Your help. Only You can help us save our son’s life.
Our son Patryś was born in April, an active, spirited little boy. He made his parents very happy. That happiness didn’t last. When Patryś was 2 weeks old we ended up in the hospital. For the next 3 weeks our hospital life consisted of dealing with infections through a long antibiotic therapy. There were a lot of unanswered questions at that point, but also hope that everything would turn out well. An appointment with a neurologist changed everything. Genetic tests were ordered. When we were waiting for the results, our son was getting weaker. He stopped moving his arms and legs, and he lost the strength to eat.
Eventually Patryś needed to be transferred to the intensive care unit for the longest few days of our lives… The test results were to be our salvation – instead, they damned him. We’ll never forget our conversation with the doctor, and that cruel, unjust diagnosis. Patryk had Spinal Muscular Atrophy type 1 – its most severe form. SMA is a neuromuscular genetic disorder which results in the loss of motor neurons and progressive muscle wasting. This means that spinal cord neurons responsible for the proper functioning of muscles gradually atrophy preventing the muscles from functioning – this affects movement, swallowing and breathing. Children afflicted by SMA type 1 usually do not make it to age two.
We used to think we understood the immensity of the fear and pain a parent must feel when their child is terminally ill. As it turned out, we had no clue. The world kept going in theory, but it really ended for us. Nothing mattered, except one thing: our son is ill, and we need to help him.
Patryś is able to lift his arms and twist his head, but these are the only movements he’s capable of. The disease didn’t take those – yet. Our son is still with us, but for how long? The awareness that he’s dying day by day truly is terrifying.
Up until very recently, SMA had been incurable. If Patryś had been born just a few years ago, it all would’ve been hopeless. As it stands, contemporary medicine does give him a chance! Thankfully, the first available SMA drug - Spinraza - is refunded in Poland. Spinraza slows down the disease’s advancement, and Patryś began receiving treatment soon after diagnosis. This is why he’s still alive. Unfortunately, the drug affects each child individually which makes its ultimate effects difficult to predict. It can also have no effect. We’re afraid this happened to us. After the 2nd dose our small warrior stopped eating independently and has been fed through a nasogastric tube ever since.
But there’s still hope! There’s a new treatment in the US which was proven to stop the disease’s advancement. It also gives back lost motor functions! The drug supplies a copy of the particular gene that Patryk is missing – the one causing his muscles to atrophy. As a result, Patryk’s organism would begin producing proteins enabling his muscles to function. This means there’s a chance he could move, sit, eat – he could live and function perfectly normally!
The price tag makes us shudder, though: the gene therapy costs 2,1mln US dollars… The most expensive treatment in the world. We’ve postponed this campaign for a long while, because we’d been afraid to even dream we could collect this much money. But we have no choice now. We can either believe and fight for a miracle, or… we can give up.
Parents want only the best for their children, and dream of watching their children grow and develop. It’s no different for us… But for that to happen, our Patryś needs to live. This is why we dare to ask You for help. What’s priceless for us – our son’s life – does have a price from a medical point of view. Grief and disbelief wouldn’t do: we needed to act. Tears won’t save our child, we need to be strong for him. We need to fight! It breaks our hearts when instead of playing with our Patryś we need to force him into constant physical and respiratory exercise. His room is filled with medical equipment: a respirator to aid Patryk’s breathing, a mechanical insufflator-exsufflator, which enables him to practice his weak cough reflex, and an aspirator to drain secretion…
Our fight isn’t just for Patryk, but also for screenings tests which could lead to eliminating this disease altogether in the future. If you think Patryś deserves a chance, if you tell your friends about him – he can be saved!
Our son’s life is in Your hands…
Parents - Monika & Darek
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