Help for Laura

Life does not always write the scenario we dreamed of ... Ours turned out to be extremely brutal... January 11, 2022 - this day will remain in our memory forever, the day we received a shocking diagnosis of our daughter's genetic disease SMARD 1 (diaphragmospinal muscular atrophy).

Our daughter Laura was born on August 21, 2021 as a healthy child with a low birth weight of 2530 g, receiving 10 points. on the Apgar scale and until the age of two months, nothing disturbed her development. The first symptoms were eating problems, poor weight gain, the feet fell down and became deformed, and the motor development began to deviate from normal.
We started the hospital diagnostics of our daughter. After many tests that came out correctly, there was a suspicion of a genetic disease, which is why we did the WES genetic test, which dispelled all doubts and made our world crumble into millions of pieces. Shocking diagnosis - ultra rare, incurable genetic disease SMARD 1 (Spinal muscular atrophy with respiratory distress Type 1) affecting about 100 people worldwide.

The disease is characterized by chronic respiratory failure, eating problems, swallowing, and muscle wasting. Millions of questions in the head and no answer . What's next? Will there be any further? Why her? Why our beloved daughter? Regret, tears and lack of strength.

Currently, Laura is 5 months old, breathing through a tracheotomy tube connected to a ventilator, fed intragastrically by PEG, and her performance and motor development are delayed. Despite the burden that came to her through life, she is a very cheerful, happy and Wonderful girl. She is our whole world.
There is no cure for this disease and no single effective way to stop its progression; all we can do is rehabilitate her as often and intensively as possible.

The disease has already taken away so much from her, and we do not know what damage it can still do in our little daughter's body, but we know one thing, we cannot give up, only get up from our knees and fight, Because we will see that she wants to fight and stay with us.

In order to be able to live and develop, Laura needs expensive rehabilitation, medical equipment and orthopedic products, so we would like to ask you for your support so that we can enjoy our daughter's beautiful smile and watch her progress.

Magdalena and Michał - Laura's parents