We knew that something wrong was going on, we felt it was terrible, but we were afraid to hear it from doctors. Our baby girl is seriously ill with SMA- Spinal muscular atrophy! This disease is so terrible that it is dificult to talk about it without having tears in the eyes. Our daughter is only 3 months old and she loses everything that is natural for healthy infants. This deadly disease distroys muscles, puts small children into immobilness and then takes their breath away leaving them dead.
We are begging you for a rescue and gene teraphy, without which we cannot even think about Maja’s future. Without the word’s most expensive medicine, our daughter’s future will be a nightmare!
Meet our wonderful baby girl who was just born to live. We’ve been waiting for her for three long years. Maja had a low birth weight, but she was so eager to nurse her mum’s breast that soon gained weight!
We were happy like never before, we watched her sleep and we said to each other that it was a great happiness to have such a beautiful and healthy girl. We made plans for a life together, we wanted to show her the world and teach her everything. There was no indication that Maja could be so seriously ill. Immediately after Easter our infant weakened very much, she started to become limpsey, she moved her legs less and less….We started to look for a help and although we knew something was wrong we tried not to panic. The pediatrician put us in the hospital. There it was quickly found out that Maja already had a problem with eating. She had no strength to nurse her mum’s breast as long as she needed, tired she fell asleep.
The doctors made various diagnoses, which they ruled out in turn. They took Maja’s blood and sent it for 3 weeks of genetic testing, but we were not told what to expect.
We were sent home, where we watched how the disease was taking our dauhter’s strength every day. Maja stopped moving her legs completely, her hand got weaker day by day. After a week, she could only turn her head.
During this time, Maja began to notice us consciously, but she could only move her head. We will never forget these terrible moments. Being able to mover her head only, Maja laughed at our tearful faces for the first time. These days of helpless despair have changed us for ever. We already knew at that time that the doctors suspected muscular atrophy.
On May 6, when Maja was two months old, the results of genetic testing came and the worst speculations were confirmed. Maja has had type 1 Spinal muscular atrophy. Our world has fallen apart, our days and weeks have merged into one dense nightmare. Maja has the most severe form of this disease, due to a genetic defect, her body does not produce protein that feeds motor neurons. With each passing day, Maja irretrievably loses her mobility, piece by piece muscles are getting weaker, including the key ones responsible for eating and breathing.
Until recently, children like Maja were not given a chance to live their second birthday. Currently, Maja is getting the only reimbursed medicine in Poland, which is designed to stop the disease from progressing by forcing Maja’s two substitutive genes to increase the production of missing protein. However, these two mentioned genes, even under the influence of the medicine, are unable to nourish movement neurons in order to prevent their irreversible death.
At the moment any minor infection is deadly for Maja. Her weakened breathing muscles will not be able to deal effectively with any lung disease. The medicine, which Maja is given in the form of painful lumbar injections, works quite slowly and selectively. In many cases, this teraphy does not prevent you from losing control of your face and esophagus muscles. We are terrified by the fact that our baby will stop smiling at us despite the treatment. We are killed by the thought that in the future Maja will not be able to talk to us. That she will not be able to say she loves us.
The hope for our daughter’s life is officially approved in the USA gene teraphy. This medicine, given only once, is able to replenish the level of life- giving protein in a few weeks to a level that will not be reached with the current medicine in a few months. What’s more, this medicine works evenly throughout the body and its early administration to such a tiny child as Maja will undoubtedly bring spectacular results. Maja is an infant, but now it is very unlikely that she will be able to walk, swallow or talk. We don’t even want to think that she can stop breathing on her own. Plese help us save our little Maja.