Birthday present

Today is my birthday and I'm blessed with healthy family but there is a family who can't say the same. I've been helping them fundraise money for their little boy's treatment. If you would like to donate few quid as a bday present for me  I would be grateful. 

that's their story:

Our son Kubuś suffers from SMA - spinal muscular atrophy. As a result of this merciless disorder  he cannot control his own body. His muscles are getting weaker and weaker. He cannot even swallow on his own! To fight SMA we need the most expensive treatment in the world. The time is running out. Please help us!

When we found out we will be having twins we were very surprised and very happy. We knew taking care of two babies is a challenge… on 17th October 2018 two gorgeous baby boys were born – Dawidek and Kubuś. We were glad the pregnancy was carried to term and the labour went smoothly. We were happy the boys will grow together and share this wonderful twin bond. However, our happiness did not last long…

We were worried the babies were so different. Dawidek weighed 3 kilos while Kubuś only 2… Dawidek was loud, cried a lot, wriggled and tensed up. Kubuś, on the other hand, was calm and quiet, moved less, even cried differently. We were told he is just weaker than his brother, but will catch up. We got really worried when Kubuś, unlike Dawid, did not try to lift his head. He did not like lying on his tummy. Eventually he stopped moving his legs. We thought it was hypotonia, but the truth was much worse…

The diagnosis – SMA – these 3 letters changed our lives irreversibly. Kubuś suffers from spinal muscular atrophy type 1, the most aggressive type. We felt as if someone had ripped our hearts out and torn them apart.

SMA is a rare genetic disease. Due to the lack of SMN1 gene the body does not produce the protein which nourishes motor neurons responsible for the muscle work. The muscles get weaker and slowly die – starting from muscles responsible for movement, moving on to the most important ones that control breathing and swallowing… If the first symptoms appear before the child is 6 months old, the prognosis is the worst. What we found out seemed like a death sentence: “the baby will never sit on its own and will die before reaching the age of 2…” How is that possible? Is one of our beloved baby boys going to lie inert in his bed, stop eating and breathing on his own and finally die? Why has such a tragedy happened to us?

Bombarded with terrifying information on the possible course of our baby’s disease, we were looking for hope. Luckily, there is a cure for SMA. Kubuś receives medication that stops the progression of the disease. Every 4 month for the rest of his life he needs to have a lumbar puncture – an unpleasant injection straight into his spinal cord. When the treatment started we believed it will be only getting better. Unfortunately, fate mocked us again… Kubuś got pneumonia. His condition got dramatically worse. He ended up in intensive care. Never before had we been so scared – our baby literally fought for his life. He was intubated and on a ventilator…

Kubuś being in an intensive care unit was a horrible experience. It’s impossible to describe seeing your tiny, vulnerable baby connected to countless tubes and machines… We couldn’t cuddle him, we did not know if he recognized us at all. We massaged his arms and legs and stroked his head, praying and crying. We hoped he would get better but for a long time there was no improvement. We will never forget our terror when the doctor called us – the hospital was only supposed to contact us in the event of death… We thought we were about to hear the worst news. It turned out Kubuś had pneumothorax and had to have it decompressed. Such a relief, this time it was not the worst news…

3 days after his release Kubuś went back to hospital with pneumonia… His condition was so severe he went back to intensive care and was intubated again. He has two surgeries. First gastrostomy – he had a tube inserted into his stomach for direct feeding. Then tracheostomy – a tube was inserted into his trachea so he could breathe. Unfortunately, as a result of this procedure our son was quiet for a very long time, as the air did not pass though his vocal cords.  Kubuś does not speak to this day. Our dream is to hear him say ”mama” and “tata” one day, just like his twin brother has been doing for a long time already.

Our son has suffered so much in his short life… Luckily, there is an innovative treatment that can help him! It is gene therapy that involves inserting a missing gene into Kubuś’s body to stop muscles from dying. As a result of the medication the previously missing protein is produced in a matter of days! Unfortunately, this is the most expensive treatment in the Word, costing over 10 million zlotys (2 250 000,00 euro)! The medication is unavailable in Poland. Last year it was authorized in the USA and recently – in Europe. The condition of children who have received gene therapy has improved considerably and quickly. The earlier the treatment starts, the better the results. We have got less and less time left…

We find it hard to understand why the fates of our twins are so dramatically different. Dawidek is running around and playing about, experiencing the world with all his senses, while Kubuś can only watch. The cruel disease has taken away his carefree childhood. As a result of SMA he cannot even do basic things such as swallowing saliva. It has to be sucked out often. We need to watch over Kubuś day and night…

We are terrified of the future. What will happen when we are gone one day? Who will be watching over our son? We would never ask for help, wasn’t it for Kubuś’s sake. We thought that it is impossible to collect such a huge amount of money. That it is too much for us, considering how busy we are raising twins… Yet the hope prevailed. We want our son to live his life to the fullest – to breathe without the tube, eat on his own, talk, be self-reliant at least to some extent … We don’t want to watch him suffer. That’s why we are asking you: please, help us save our baby…

Kubuś’s parents – Ania and Michał