Gene therapy in the fight against SMA and rehabilitation
Ends at: 30 September 2021
My little girl is Inga. I wanted to giver her a star. But I could not even give her a healthy life. When each day is a struggle, you can only hope that fairytales with happy endings sometimes come true….
December is a special month for me. That's when I found out that I had a baby under my heart. December 6 was a special day. The results of the test were a gift, a gift I knew would change my life. I just didn’t know how much.
It changed my world beyond recognition. I thought I was ready for anything: wake-up calls in the middle of the night, teething and all other ups and downs. I was not ready for the terrible disease that would sentence my Inga to death. I was not ready for the fear and terror of watching my child suffer. I was not ready for the total helplessness in the face of this brutal enemy, this monstrous disease.
We waited a long time for the diagnosis. Too long. We searched for answers to what was happening with our child. We knocked on various doors, and received contradictory diagnoses from the various specialists. Initially, the doctors were not concerned with her development, but my baby’s muscle tone dramatically began to weaken. Our fears were growing day by day.
Rehabilitation was supposed to improve Inga’s condition. The results of the first rehabilitation sessions were promising, but then we saw little progress. The joy lasted only a moment and was quickly replaced by despair. The test results provided the final blow. It was Spinal Muscular Atrophy 1, a rare genetic disease. Although we suspected the disease, we desperately hoped it wasn’t true. However, after 7 weeks of anxious waiting, this hope was taken away. With this news the world which we had imagined for our child was destroyed.
Now, rehabilitation is our reality. For Inga it is painful and hard. The sound of her crying makes my heart break into a million pieces. I will never forget it. I feel I am hurting her, though I am doing it for her sake. It hurts me so much. When I take her in my arms I keep saying, “Daughter, I would like to protect you, find a safe haven, and show you the beauty of the world away from the hospital and the rehabilitation room.” As a mother, I would like to watch her take the first step, play worry-free, and say her first word. I don't know if I will ever experience even one of those simple joys.
Spinal muscular atrophy 1 (SMA1) is a genetic disease that affects the nerve cells that control voluntary muscles. Without treatment, symptoms of SMA1 include worsening muscle weakness and poor muscle tone. Feeding and breathing problems develop quickly. Without treatment most children die before the age of 2.
I believe that we are suffering the consequences of a delayed diagnosis. Inga, despite rehabilitation, unnaturally flexes her hands and her spine is crooked. It may never straighten which will cause a lot of problems - initially with motor development, but also with her breathing. I am afraid to think what awaits us. I stopped planning for the future. For several months our life has been a daily struggle - first to get an accurate diagnosis and now for getting the treatment to save our little girl.
There is only one salvation in the fight against this mighty enemy. It is gene therapy, a treatment that costs millions of zlotys, which is more than $2 million. It would stop the progression of the disease. It would allow us some peace of mind to begin a new chapter. We would no longer fear that our daughter would stop eating or moving independently and suddenly stop breathing. We would no longer have to fear that her life will be a series of suffering and insurmountable barriers.
Help! Help! I don't know what other words to use to ask for your support. Please help us fight for the future of our child. Without support, we have no chance to save Inga. Without your help, we will lose the fight of our lives against the deadly disease.
I am begging you! Give, so my daughter can live. This is our one chance.
With your help, we can do so much - change the course of events and defeat the enemy, this merciless disease. Every day counts in this fight, so please make a donation now. Only here, now and together, can we make a miracle happen.