“‘I want you to know you are a miracle… not an accident, not a burden, and not a problem. You are my little miracle. I want you to know I love your little hands and feet and your shiny smile. I love you more than you will ever know… with my heart and my soul. I want you to know I will always be here… since the day you were born and until I take my last breath… I will be here for you.
I will be here to wake you up, to dress you, and to brush your teeth… I will be here to teach you how to sit, how to stand, and how to walk. I will be here, I hope—always when you need me—to calm you down, to make you laugh, and sometimes simply just to be. I will be here to bathe you and sing your favorite song when you go to sleep. I will be here every day and every night. I will be here until I can.’
What would you do if the doctor told you your child has a severe genetic disorder? That your child will probably never walk or say, ‘I love you, Mom.’ What would you do if you learned there is a way you can help him? Would you accept his future or would you fight as you have never fought before? This is me choosing to fight. And I chose it every single day.
I had a normal pregnancy. I did what every mother would do: ate healthily, did regular exercise, talked to the belly, and got a lot of sleep. Because I had a daughter who was 17 months old when my second baby was born, I knew what to expect from this pregnancy, what to expect from the labor, and from the first months of having a new baby. I wished to have a baby boy and I wished I would give birth with a smile on my face. If I could turn back the time, my only wish would be to have a healthy baby. Nothing less and nothing more.
My sweet baby was born on the 14th of June in 2019 with five fingers on each hand and each foot and an angelic smile on his face. Like he knew he would change our world forever. Both wishes did come true. He was a boy and I did give birth with a smile on my face. But my baby was born with a rare genetic condition. A condition no parent should ever have to face. When Urban was born, we were so happy to have another member in our family and we felt things couldn’t be more complete. My husband is the best husband in the world (literally—I have met many people and there is no one I would want more than my husband!), we have a beautiful baby girl (who melts my heart every time I think of her), and now a new baby came. A boy!
I had to pinch myself to see if I was dreaming. It was just too good to be true. We noticed the first signs everything was not okay when Urban was 3 months old. It was summer, and we went to Croatia to spend our family time near the sea. I remember talking to myself and questioning when babies should be holding their heads. Urban was still very floppy. I started looking at other babies and evaluating their ages and observing if they were holding their heads or not. I wasn’t really worried, but it was something in the back of my mind. Because what can be wrong? I had perfect labor, our family was healthy, and we were young. What could possibly go wrong?
When I had my first baby girl and she didn’t sleep well, sometimes I complained about how hard it was to have a baby. How do other moms do it? At the time, I felt it was hard not having time for myself, to not drink a coffee in peace, to not go to the bathroom, and to not sleep at night. I can say with my full heart I didn’t know how easy it was to have a healthy baby until we were faced with his diagnosis. ‘Mom, what is wrong with this boy?’ I heard a voice from a little girl sitting at the doctor’s appointment. She was looking at my boy. At my sweet, perfect little boy. The moment when somebody first told me there could be something wrong with him was the worst time of my life. It was the moment that broke my heart forever.
I took Urban to his regular pediatric check-up. It was a sunny day at the end of September. We entered the pediatrician’s office and immediately I told her sometimes he ‘throws his head back.’ Before the doctor looked at my baby, she tried to comfort me: ‘It is normal when babies at this age use ‘extension,’ I see it very often here.’ Then she looked at him. She looked at him with a look I will never forget. She didn’t have to say anything. I knew something was seriously wrong. I felt it in my heart and in my body. ‘I have to be honest. This does not look good. We have to take him to do an ultrasound of his brain. I suspect there is something wrong in his brain.’
I felt my whole body crying. My heart was aching so much I couldn’t take a breath. I couldn’t say a word. I couldn’t make a move. I was numb. In the following months, we went from one appointment to another. We did several brain scans, from the ultrasound of his brain to magnetic resonance imaging to several genetic tests. Everything came back normal. They kept saying maybe it was just a minor brain injury and he will recover. Not a day has passed we didn’t hold to those exact words. Then, we received a phone call from Urban’s neurologist. They found the reason behind his problems. ‘A small letter change in a gene called CTNNB1,’ they said. I wrote down the letters and felt relief. We had our diagnosis—it can’t be too bad, right? Kids who have severe disorders are severe at birth as well, right? And our son looked normal. He looked at us, he smiled, he was happy. He looked perfectly healthy to us.
My husband went online and started to search. What we found was worse than we could ever imagine. ‘CTNNB1 syndrome is a severe intellectual disability disorder. More than half of children have a severe speech impairment and say ‘no’ or only single meaningful words. Around 40% of children learn to walk unsupported, but with an unusual style. The majority need a walker or a wheelchair. They have visual impairments and can develop severe aggressive behavioral problems.’ We were in shock. It was not possible to accept this. Our perfect little boy wouldn’t be able to say, ‘I love you, Mom. I love you, Dad.’ He won’t be able to run with his big sister. He will be aggressive toward us or himself. It was simply not acceptable. I believe every single event in my life brought me to the point I am today. There hasn’t been anything more important for me to do and I don’t think there ever will be.
As soon as I found out about my son’s diagnosis, I decided to fight for him. I couldn’t go to my grave knowing I didn’t do absolutely everything in my power to help Urban. I spent hours each week exercising with him, talking, and singing songs designed to teach him how to turn and sit. I learned how to massage him and then rubbed his feet with different textures twice a day, every day. I spent hours on the floor and on the green ball teaching him how to sit and how to gain balance. I took him to intensive physiotherapy and videotaped their moves so I could work with him when we returned home. I spent hours each night looking for the treatment that would help. I learned about stem cell therapy, hypobaric oxygen chambers, and reviewed all of the published articles on the compounds that could increase the protein missing in his body.
All those treatments looked promising; however, deep inside I knew our syndrome is too severe, and any of those things can have a significant impact on our kids, meaning they can be independent one day. Then, my husband accidentally found a video of Amber Freed, a fighting mother who organized gene therapy research for her son’s genetic mutation. She organized the whole thing and is right now waiting for her son to be treated and cured forever. We were in shock. How is this even possible? To develop a treatment for an unknown disease takes years! And millions and millions of dollars. It looked too good to be true. And by now, I learned if something looks too good to be true, then it probably is. Like the holidays that are advertised online and offer accommodation in a 5-star hotel with breakfast for only 10$/night. A scam.
However, the idea we could do something to cure our son was beyond our wildest dreams. The idea of hearing our son’s sweet voice and seeing him play with his big sister was something we weren’t going to let go of so easily. We knew we had to talk to this mother and search for answers. We got her phone number and called her the next day. She confirmed gene therapy can be developed for many disorders. It all depends on the size of the gene and the cells you want to target. My husband and I decided to take things into our hands. We spent every moment we had studying research articles published on CTNNB1. We attended conferences on gene therapy and were talking to researchers around the world about possible treatments. Be aware, researchers are very busy people and you have to be very creative to get their attention.
And most importantly, you need to be very prepared. With some people, you only get one shot and that’s it. We understood this. For this reason, we created a presentation and a thorough manuscript about all of the relevant information on the CTNNB1 gene. Then we started approaching the researchers and presenting Urban’s case. ‘Luck is on the side of those who take chances’ has been our motto from the start. With hard luck and even harder work, we were able to get the researchers on our side. Our gene therapy program is, at this moment, running! If the preclinical work is successful, we can expect a clinical trial in 2023/2024. We started raising money, as we felt we were racing with time. Within only two months, we were able to raise almost $500,000 to advance the gene therapy research. We have found amazing collaborators around the world who will help us fund and speed this project.
However, we still need to raise a lot of money. We now have the responsibility to help not only our boy, but also 400 kids around the world affected by this syndrome. How could we leave this place without knowing we have tried everything in our power to help them have a chance at life? Urban is two years old now. He still doesn’t walk or talk. Although he is perfectly happy this way, we know once he will get bigger, communication and mobility will be the keys to his independence. And this is something we need to fight for.
How Can You Help?
1. Share this post to increase the awareness of our syndrome and the awareness of gene therapy. You never know if another fighting mother knows something can be done to help her child.
2. Make a donation, every dollar counts.
3. Read more about our project.
We will be forever thankful for your help and support. THANK YOU.”
This story was submitted to Love What Matters by Špela Miroševič You can follow their journey on Instagram, Facebook, and YouTube. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
Read more stories like this:
‘Something is not right!’ One eye was smaller than the other, but doctors kept telling me he was okay. I knew I was going to have to fight.’: Woman gives birth to son with rare genetic disorder, ‘I have found my purpose’
‘Let them just hold their baby.’ He looked different. I’m filled with gratitude for her compassion.’: Couple learns of newborn’s rare genetic syndrome, encourages others to see ‘grace’ in their journey
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