SMA – these are the three letters we dread every day. Our daughter Nina was diagnosed with spinal muscular atrophy – a disorder which forces us to look at her muscles die. Her only chance to win this battle is gene theraphy which unfortunately is not reimbursed and astronomically expensive. What’s more, for the therapy to work she has to show up weighing not more than 13,5kg (ca. 30 pounds)! Past that moment – it will be too late… We are racing against the clock to save her. We know that with the help of many great-hearted people we can win this fight. Please, help us save our daughter!
May 1st, 2019 – that was the day Nina was born. We couldn’t have been happier! Each day we woke up with a smile, completely unaware of the problems we would face very soon. Our happiness started to slowly fade around the time Nina was 10 months old. At the end of February she came down with bronchitis, after which she became unusually weak. Overnight she became frail, had no energy, did not kick her legs and wave her arms like she used to, stopped getting on all fours and forgot numerous other skills she had already acquired. And this is when the alarms went off in our heads. Unfortunately – it was right when coronavirus struck and the lockdown began. For two months we were left with limited access to diagnostics…
We showed up at the neurologist’s office as soon as it was possible but we left with a wrong diagnosis. The doctor said she was fine and we were told to follow rehabilitation guidelines and wait for Nina to get her energy levels back up after what was supposedly an ordinary consequence of the infection she had gone through.
Left with that diagnosis and no diagnostics, we did as we were told. But nothing helped and around the end of June we noticed Nina stopped moving her legs almost completely. Instead of getting better, our daughter was feeling worse.
In July we showed up at Children's Health Memorial Centre Institute (Polish: Instytut "Pomnik - Centrum Zdrowia Dziecka) in Warsaw. The doctor performed the preliminary medical examination and asked us to talk to him. This was the day we heard the three most dreadful words we had ever heard – spinal muscular atrophy, which at that point was a hypothesis. We knew little about the disorder at the time but now these words have unfortunately become a part of our every day vocabulary. Genetic testing proved it was in fact SMA. To be specific – Nina was diagnosed with SMA 2 – a disorder which slowly kills her muscles. First, it targets the ones responsible for moving around. Next, it will move on to the ones which let Nina breathe.
We started the first stage of the battle right after hearing the diagnosis. Today, Nina receives medicine which slows down the muscle wasting. What she really needs though is gene therapy, approved a year ago in the US and available in Poland now as well. Unlike the medicine she takes now, gene therapy will provide her with the help she needs at once, which is crucial to her future!
Our daughter is sick with a genetic disorder, which slowly devastates her system. Each day we wake up with fear. We are afraid what the future might bring for our daughter. What we can do now is to make use of this fear and therefore gain strength to fight for Nina’s future. We know we have a long way ahead of us and we must act fast. SMA will not wait for us to catch up. We would like to ask you to assist us in this fight. Please, help us save our daughter.
Jola and Tomek, parents.