A horrible disease is taking our daughter away from us❗️Gaia suffers from Rett syndrome - HELP❗️
I'm a grown man - I shouldn't be afraid, but for several days I've been scared to death that I won't make it with our fundraiser on time... On May 20, 2022, Gaia was born. A beautiful, healthy girl – our long-awaited treasure. Although we are already parents to a five-year-old Alex, Gaia brought even more love and joy into our family. I didn't know it was possible to love like that... I couldn't believe my good fortune - I felt as if I already had everything I could ever dream of. We were sure that our daughter was healthy. We lived with this conviction for 9 months... Over time we noticed that Gaia was not reaching her developmental milestones. She did not make any attempts to sit or crawl. We started consulting her condition with doctors but kept hearing the same thing. We were told to give our daughter time and were reassured about her perfect health. We did not know that the disease was already damaging her tiny body! And we could not help her... When mobility problems appeared, Gaia underwent regular physical therapy. We supported her development the best we could. As exercises did not help much, we started to search for the root cause of the problems. Unfortunately, in the following months, our appeals to receive a proper diagnosis from the doctors fell on deaf ears. Although my daughter was already fifteen months old, she still could not walk. Her crawling was very reluctant and inept. It seemed impossible that she had missed so many developmental milestones at that point for no reason... Neurologists didn't see anything wrong with her results. We experienced a lack of understanding. We felt the problem might lie deeper. We wanted a doctor to refer Gaia for genetic testing in September. Instead, my wife was recommended for psychiatric treatment. According to the doctor, she was looking for a disease in a healthy child. But who knew Gaia better than us - her parents, her mother? We knew something was wrong with our daughter’s health... One day we came across a fundraiser for Lenka – a girl with Rett syndrome. We read the description with bated breath – as if we were reading our own story. With every word we realized that our daughter might have the same disease... In December we did an expensive WES (Whole Exome Sequencing) analysis, which was supposed to confirm or rule out the genetic disorder. The results came in last Tuesday. Meanwhile, Gaia’s condition deteriorated dramatically. We felt as if we had lost our daughter. Gaia no longer reacts when we call her name, has difficulty making eye contact. She squints, doesn't understand when we talk to her and doesn't interact with us. She barely crawls on all fours and waves her arms uncontrollably. She is gradually losing all the skills she has developed. My beloved daughter is fading away day by day, and I am helpless… The results confirmed our worst suspicions - Gaia was diagnosed with Rett syndrome. It breaks my heart when I realize how much precious time we have lost. If only we had listened to our intuition sooner and done the tests in September, such a regression might not have occurred. I can't come to terms with it. I just can't. Rett syndrome is a rare genetic disease that is difficult to diagnose. It only affects girls, locking them in and taking them away from their parents. Although they were able to say their first words, suddenly lose the ability to speak, even though they tried to walk, they lose all physical skills... They develop breathing problems, epilepsy, convulsions and heart diseases. The seemingly healthy girls become trapped in their own bodies... I look at Gaia and my heart breaks. My little daughter, our little ray of sunshine, always smiling, doesn't know what is going on around her and seems lost. The disease is progressing dramatically. Gaia started having epileptic seizures which are very dangerous because they carry the risk of changes in the brain. At this point, there is only one way to slow down the progress of the disease – by administering a horrendously expensive drug available only in the United States. The medicine is in the form of a syrup and its dose is calculated based on the child's weight. During the day, Gaia should take 50 ml of syrup, which costs $1,050. Just one day of treatment for our daughter will cost approximately PLN 4,200! Just one day… The treatment once started, CANNOT be discontinued. Gaia must take the medication until she receives gene therapy, which is currently at a very advanced stage of research. Currently, gene therapy is already administered to girls in the United States as part of a clinical trial. The selected gene delivered to the cerebrospinal fluid via an appropriate virus replaces the defective one, which completely stops the progression of Rett syndrome. The results are very promising! Gene therapy is a great hope for all of us. However, we do not know when it will be available for everyone. Until then, we need to keep Gaia in the best possible shape. And this means administering an unimaginably expensive drug, which I will have to bring from the United States every month, and simultaneously use of all available forms of supportive therapy, such as physiotherapy, targeted rehabilitation and speech therapy. In addition, Gaia requires regular consultations with neurologists, cardiologists, and gastroenterologists as Rett syndrome wreaks havoc on the whole body. Since the disease develops quickly and insidiously, Gaia must take the first dose of the drug immediately. The annual cost of treatment is around USD 380,000! Moreover, it will increase with her weight. The therapy may last up to three years. I will never be able to save such a large amount of money! It is simply unattainable. However, are not losing hope. Something most valuable is at stake – the life of our child. Our hearts have always been open to others. We hope that today, when we find ourselves in such a difficult situation, we can count on your support... My wife and I - Gaia's parents and her older brother are asking you for help with all our hearts. If you want to support us but are wondering whether your donation will make any difference – I can assure you that it will. We are grateful for every penny. Please tell our story to someone close to you and share it online so that people can learn about it. I wish the doctors told me they had made the wrong diagnosis. I wish Gaia was healthy. I wish I could wake up from this nightmare. Please help me fight for my daughter... Adam - Gaia's father, Julia - mother and Alex - older brother