As the Polish SYNGAP1 community grows in strength and numbers, families in Poland are sharing their unwavering commitment to providing their children every opportunity to heal and thrive, including participating in treatments using antisense oligonucleotides (ASOs).
This short overview written by SynGAP Research Fund explains the importance of ASOs and the promise they hold for helping Syngapians:
“ASOs are small fragments of RNA that can bind to a gene’s mRNA and modify its expression. For SYNGAP1, the end goal is to get the one functional copy of the gene to produce more “working” SYNGAP1 protein. ASOs are precision drugs developed to target specific diseases. ASOs are already approved by regulators and available on the market for several diseases, most notably Spinal Muscular Atrophy (SMA). ASOs targeting other haploinsufficiency disorders are already in pre-clinical trials or clinical trials. “
We are grateful to two SYNGAP1 Moms – Monika Nestorowicz and SRF’s International Ambassador to Poland Beata Tarusiak – for gathering and translating the heartfelt, hopeful, and honest testimonials below. We are humbled by the transparency and vulnerability of these parents, and their willingness to give their precious children a fighting chance at a better life. Here, they openly share their fears and dreams for their children, and why they would not hesitate to participate in ASO treatments.
A related blog, We Need a Cure for SYNGAP1 Yesterday!, can be found here.
Karolina – Mother of Anna
Anna is 13 years old. I would choose experimental treatment for my daughter primarily to support her development and give her a better start in her adult life—or any start at all. I want her to have a chance to not be confined in an institution when I am no longer able to take care of her. It is also important for me to simplify my own life—so if there is an opportunity to help both my daughter and myself, I will definitely take it.
Right now, I am a prisoner of my child’s SYNGAP1—in the most literal sense. I cannot move more than a meter away from her because she immediately starts screaming, shrieking, and crying so loudly that I can’t bear it mentally. The only time I get to rest is when she is at school—but school doesn’t last forever…
I can no longer take care of the household. I live in constant chaos, I have no time to do the shopping, I cannot cook, clean, or rest. If I want to wash myself, I have to take my daughter into the bathroom and keep an eye on her. When I try to do something in the kitchen, I have to keep her close, which is dangerous. My life is a constant struggle for survival.
When I think about the future, fear overwhelms me. What will happen when I’m gone? Who will take care of her? I don’t want her whole life to be spent in confinement and loneliness. If therapy could help, if it could improve her condition even a little, I have no doubt—I would do everything in my power to give her that chance.
Anna – Mother of Mateusz
Mateusz is 18 years old and has lived without a proper diagnosis for most of his life. After 13 years of intensive search for the cause of his health and developmental challenges, we have finally completed the diagnostic odyssey. The diagnosis of SYNGAP1 gave us both relief and hope for our son’s future treatment.
We would like to improve the comfort of our son’s life and, ASO therapy can certainly change a lot and bring Mateusz relief from his illness. After many years of living in pain, misunderstanding, and lack of control over his own body, this is a chance for my son to stabilize in his life.
Most of all in the world, we would like to have the opportunity to talk to our own son, and ask what he has felt during these hard years, and what kind of human being he is. We will fight for him and every possible therapy, because he deserves it.
Monika – Mother of Radek
Giving my child ASO therapy, even though it is experimental and involves risk, is not a choice for me, but a necessity.
Radek is 5 years old. A mutation in the SYNGAP1 gene causes serious developmental deficits, epilepsy, and communication and behavioral disorders that affect his daily functioning and the life of our entire family. Currently, there is no effective therapy, and every month without action is a lost opportunity. The early years are a key moment for brain development – the sooner we start treatment, the more likely we are to improve.
Our child’s illness has completely dominated our everyday life. My marriage is exposed to constant tension, because all our plans and decisions are based on Radek’s state of health. Lack of sleep, constant wakefulness and the need for constant care cause exhaustion and frustration. The relationship with my husband suffers because it is becoming more and more difficult to find time for something other than duties and treatment. We don’t think about the future – we focus on how to get through another day.
Our older son grows up in the shadow of his younger sibling’s illness. He often has to give in because his brother requires the most attention. Family moments together are limited, and everyday life revolves around therapies and treatment. He may feel overlooked and less important than Radek, and he has more on his shoulders than he should.
For me, it is a huge physical and mental burden. Permanent fatigue resulting from lack of sleep weakens the body, affects memory, concentration and health. Headaches, hypertension and hormonal disorders have appeared. The constant stress and unpredictability of the day take a toll on my nervous and immune systems, leading to stomach problems, muscle aches and migraines. Caring for Radek takes huge physical effort. I have to pick him up and carry him, especially during epileptic seizures or emotional crises. As I get older, he becomes heavier and I get weaker, which puts additional strain on my spine and joints. I don’t have time to regenerate or take care of my own health, which leads to burnout.
For me, ASO is not an experiment, but a hope that my child will be able to function better – that epileptic seizures and behavioral problems will decrease, and his development will gain new dynamics. It is also a chance to improve the quality of life of the whole family – less stress, greater balance and the possibility of returning to at least partial normalcy. Yes, this treatment carries risks, but a much greater threat is lack of action. If I have the opportunity, I will decide to have Radek undergo ASO therapy – not to experiment, but to give my child and our family a chance for a better future.
Urszula – Mother of Dobrusia
I am Dobrusia’s mother. She has been in therapy for 13 years. For us, life is a daily struggle for a better tomorrow. If there is a chance for Dobrusia to receive an ASO treatment and overcome the barriers that block her, then there is hope for a “new life” for us. As a mother, I cannot imagine being haunted by the thought that I did not do anything; that I missed a chance. This is the chance we are waiting for.
Anna – Mother of Szymon
I have a 14-year-old son named Szymon. I wish people would stop looking at my Son as a freak, just because he behaves differently and expresses his emotions. I would like to hear from Him what He feels, what He dreams about, what He is afraid of… So that he has a chance to become independent and live with dignity. Without trying a treatment, we will never know how much we can gain… And when it comes to mundane things, maybe one day we will go on a bike trip together – each on his own 2 wheels.
Evelina – Mother of Ola
Ola is 4.5 years old. She is my dream daughter. During therapy and after learning about the diagnosis, I realized that my life’s mission is to make her function as well as possible. ASO therapy gives us a chance and hope for a normal future. It seems to me this is the issue that worries us parents the most. Therefore, if anything can help her, I will experiment.
Malgorzata – Mother of Karol
Living with the disease is very difficult not only for the child, but also for the parents. Watching my 8-year-old son Karol’s daily struggle with epileptic seizures, the inability to perform everyday activities, and behavior that is very different from the behavior of peers is a heavy psychological burden for me. I still hope that rapidly developing medicine and newer treatment methods – even experimental ones – will be able to improve the comfort of my child’s life. I dream that thanks to these treatments, in the future he will be able to overcome his deficits and function in a relatively normal way.
Anna – Mother of Zuzia
Zuzia is 6 years old. Why would I give my child an ASO? Because I love her more than life, and since she was born, I have been taking care of her in the best way I can. With the diagnosis, the fight for her health and the best possible development began. The vision of treatment keeps me in check and gives me hope for a better future for Zuzia. Constant thoughts of what it will be like when we are gone, constant fear of threats that exist do not leave us alone. This treatment is a chance for all of us, for our whole family, and above all for Zuzia, to see the world from a different perspective; for peace and mental balance.
Monika – Mother of Julia
I am determined to use an experimental ASO therapy for my daughter Julia, who is 6.5 years-old. I hope to improve the quality of my child’s life with this therapy. I want her to fully enjoy life, have friends, be independent, and finally be free from the prison of SYNGAP1. I would also like a “normal” life for my whole family and psychological comfort, which Julia’s illness has not allowed for many years.
Kamil – Father of Lena
Lena is a fantastic and lovable eleven-year-old. From birth, we noticed something was wrong with her development. She began her first rehabilitation at the age of two. The diagnosis itself was a long stage. At first, no one knew what we were dealing with. Step by step, after many consultations, and finally after genetic testing, it turned out that we are struggling with SYNGAP1. Like any child with special needs, we parents also perceive the world completely differently than the rest of society. What comes easily to others, comes to us with much more difficulty. Our life is a struggle to respect norms and standards of living. We are waiting and looking forward to any form of development related to modern research.
Marta – Mother of Julia
Julia is 6 years old and does not know life without therapy, because she started her first one in the 14th week of life. When her peers ran to the playground, she went to the next therapy session, because such “free time” was not guaranteed by SYNGAP1. When her cousins played “house” with dolls, she was happy with the savvy cleaning robot, because it doesn’t require the effort and precision that SYNGAP1 took away from her. When her classmates are also writing letters and lines in kindergarten, she struggles to hold the crayon and make one crooked line, but even this is hindered by SYNGAP1. When her cousin emotionally talks about what happened at school, Julia can’t express whether the day went well or badly, because SYNGAP1 has made her non-verbal.
In the future, when Julia’s peers finish their studies, start families, and make their dreams come true, Julia will still be trapped in her helpless body, dependent on us – her parents. Parents whose dreams of a healthy child were shattered by SYNGAP1. Parents who never turn off the state of readiness in their heads. Parents who have to deal with the illness of their beloved child. Parents who know that there will be no miracle and only treatments such as ASOs can really change the future for Julia and other patients with SYNGAP1.
A few years ago, we took up the gauntlet that fate threw at us and started fighting for Julia’s health and life, with good and bad results. We are aware that no sophisticated therapy, the best supplement, or a fancy rehabilitation camp will give Julia what ASO therapy can. In fact, it is the first huge step toward a real solution and independence. Therefore, we will do our best to make Julia use it.
Marzena – Mother of Amelia
We are the parents of Amelia, who turns 17 this year; next year she will enter adult life. We would like our daughter to benefit from ASO therapy, since it is a hope for a better life for her – for an independent life, for the possibility of making decisions and expressing her needs. For 15 years we have been constantly looking for a diagnosis, therapy, and medication – mainly for epileptic seizures – which unfortunately after so many years of use have led to other health problems.
Our life is a constant struggle for Amelia to cope on her own when we are gone, so that she does not need someone next to her to help her, and most importantly, that she can pass on when something bad happens to her. ASO therapy is at our daughter’s fingertips and therefore we would very much like her to have a chance to benefit from it, because it may be a good start into her adult life without pain and anxiety, and for us parents it is a relief that our child will be able to cope in life even after we are gone.
Sylwia – Mother to Zosia
I am a single mother to 9-year-old Zosia, who has SYNGAP1. Every day is one big wave. Every day I completely struggle with difficult behaviors, which become more and more difficult with age and growth. Pharmacology and behavioral therapy do not bring the expected results. More and more people turn away from us because of this. Stress and fatigue are taking a toll on my physical and mental health. I’m doing what I can, but how much longer will I be able to push this stroller? I do not know. I will undertake any therapy, even an experimental one, to fix our lives at least a little.
Patrycja – Mother of Igor
Igor is 2-years- old and is one of the youngest children in Poland with SYNGAP1. He got his diagnosis at the age of 16-months, and since then he has not known a day without therapy. Every day he fights for his health – to match his peers. He fights to ensure that the simplest activities do not cause him so much difficulty. SYNGAP1 takes away the normal childhood that we have always dreamed of for Igor. As his parents, we live every day with the hope of Igor’s independence, and we will do everything to make it happen. If the ASO is to make our son’s life better, we will experiment.
Agnieszka – Mother of Eryk
Eryk is an 11-year-old child living with SYNGAP1. He was the third child diagnosed in Poland. When I found out the diagnosis, I was devastated. For several months I couldn’t come to terms with it, because I couldn’t learn anything from anyone because no one knew how to treat this ultra rare-disease. For several years, we were under observation at the University of Gdańsk for rare diseases, hoping that someone would tell us something more about what we were facing. Eryk has been receiving interventions since he was one year old, and even though we can see progress with him, I know that in adulthood he will certainly not be able to cope on his own.
I also know that we will do everything in our power to make it better, but sometimes there are situations when you have used all possible options and you have to experiment, in the hopes that the ASO will make my son independent in his adult life.
Aneta – Mother of Ala
Ala is 7.5 years old and is a cheerful girl. On a daily basis, we struggle with ADHD and lack of independence, although the potential is there. We will gladly undergo ASO therapy, if it is available. ASO is the only chance to make my child at least a little independent, so that she is not 100% dependent on others and their willingness to help or their moods. And for me, as a mother, the ball and chain I will carry for the rest of my days will not be that heavy after all.
Natalia – Mother of Karol
My little boy is Karol. Although he is only 4 years old, he struggles with problems that others cannot even imagine. It was very difficult for me to accept his illness. To understand that he is not a naughty and difficult child – and it is SYNGAP1 that makes it so difficult for him. Ever since his diagnosis, I understand that it is the inability to express his own opinion, his own feelings and emotions that is the reason for his anger and frustration, I can see constant pain in his eyes. The pain of incomprehension and helplessness. Every ordinary activity is a huge challenge. In his every move, I see a constant struggle with his own limitations.
My heart breaks when I look at photos from preschool. I see happy, smiling faces of kids playing together, and our son is never among them. When others have interesting activities, he spends hours on various therapies and interventions. Without specific treatment, his whole life will consist of a constant fight with himself, with us and with the whole world. We are ready to undertake any therapy that will give at least a shadow of a chance to improve our son’s life. We believe that the sooner Karol receives ASO therapy, the greater his chance of having an independent, happy life. We also know that if we don’t take the risk, we will take away this only hope, and SYNGAP1 will take away everything he works so hard for every day.
Kinga – Mother of Kacper
Kacper is 5 years old. He received the diagnosis of SYNGAP1 when he was 4 years old. From about 6-months of age, we began to see that his development was abnormal. Over time, it turned out that he was more and more different in development from his peers. As parents, we were terrified, having no idea what disease we were dealing with, so we rehabilitated, went to doctors, and did tests. Finally, when we received the diagnosis, we felt relief on one hand, and even greater terror on the other.
Every day we wake up thinking about how Kacper will continue to develop, whether his ailments are getting worse. Every day I watch him try to say something and fight for us to understand him well. Everyone tries their best to make his life easier, but he is not able to tell us what he feels, what he wants and what he is afraid of.
He is not able to establish contact with his peers, and it is clear that he wants it very much. He also cannot fully participate in games due to serious physical and cognitive barriers that the disease puts in his way. He fights every day for basic skills like holding a bottle of water on his own. This is not a normal, dignified, peaceful life for him, nor for us parents and our closest family. It is a constant fight for a better tomorrow, a fight against physical and mental exhaustion, nightmares, despair and helplessness. ASO therapy, although risky and unknown, is the only chance to free Kacper from this hard and unfair life. It is a chance for us to live out our old age more peacefully, not constantly thinking only about how our child will cope on his own when we are gone.
Emilia – Mother of Maja
Maja is 15 years old. I don’t like to talk about Majka through the prism of her illness, because for me it’s already an everyday reality that I accept and Majka is my million dollars. She loves it when I say to her,: my “one million dollar.” This is a quote from the audiobook by Zbigniew Buczkowski, of which she is a huge fan.
I am a proud mother of a beautiful and very brave girl. The enormity of the work we put into therapy and rehabilitation is paying off today. Maja did not move on her own for a long time, she took her first steps very late. Until the age of 8, a stroller was necessary, but I always believed that Maja would go and go.
An article about SYNGAP1 gave me a lot of faith that it will be ok; I read that people with SYNGAP1 are able to learn all their lives. Maja was 7 years old at the time and I started to stick to it, that everything is still ahead of us. We face communication difficulties, self-aggression and others, but we are happy. There used to be many more of these obstacles; lack of patience, fixations, enormous sensory hypersensitivity, poor physical condition, constant epileptic seizures, but we are working on everything and the scale of these problems is systematically decreasing. The prospect of further improvement, which is given by the treatment, drives us to further action, so that we do not deviate from the right course.
Renata – Mother to Janek
Janek is 19-years-old, and the oldest diagnosed Polish Syngapian. He is funny, always laughing, making jokes about everything around him. On the other hand, he can be aggressive, not understand danger, is always in therapies, and in hospitals. SYNGAP1 makes life more difficult for the whole family, and all attention is focused on Janek. But we can’t imagine life without him.
I would give everything for his health; I could die today. You have to play with the cards you have and try to win. ASO therapy is our best card at the moment. We want to have it.
Malgorzata – Mother of Krystian
Krystian is 12-years-old and is one of the first diagnosed SYNGAP1 patients in Poland. At first I felt despair and it felt like banging my head against the wall, SYNGAP1 sounded more or less like a riddle in Chinese. Eight years after the diagnosis, our life is full not only of smiles and joy (because children with SYNGAP1 can be wonderfully happy), but above all there are difficult moments, developmental delays, severe epileptic seizures and aggression. ASO therapy appears to be a light at the end of the tunnel. And you should always go towards the light and leave the darkness behind. This is an opportunity not only for our children, but also for the whole family – parents, grandparents and siblings – to feel what it’s like to live a normal life. Just like that..
Katarzyna – Mother of Miłosz
Miłosz age 9.5. My son has been struggling with epileptic seizures every day since he was about 2- years- old. Although he takes medication, the seizures cannot be eliminated.
He is a joyful, wise, cheerful boy locked in his own body. He understands more than we think. He is constantly developing at his own pace. Every day he surprises me with new skills. However, he still has various developmental problems that prevent him from living a normal life. Every day we fight for his health.
When I found out that there is research on ASO therapy for children with SYNGAP1, I felt joy that our son’s functioning can improve. Although it is an experimental therapy, I would agree to it without hesitation. It can help Miłosz live a better life, which is the most important goal for us. This is an opportunity that we are very much looking forward to and we believe that the day will come when we will take advantage of it.
Urszula – Mother of a Syngapian
My son is a wonderful 6-year-old child with a cheerful disposition. We parents are happy with his hard-earned achievements from therapy, but no matter how great they are for us, they will always be late, incomplete, and negligible compared to what a healthy child of his age, or even a much younger child, can do. Today he’s a child – even healthy children are to some extent helpless and every child is dependent on an adult. My son, on the other hand, will always be dependent on an adult, even as an adult, and will always be as helpless as a child. I am afraid of this future.
I would decide on therapy to treat the cause of the disease, because only this can lift my son’s limitations.
Marcin – father of Marcin
Marcin is 12 years old. He didn’t have a diagnosis for a long time. He has been undergoing rehabilitation since he was 2 years old. He has gone through every possible therapy. Only targeted pharmacological testing will help him. Time is not on his side. Only scientists can help him.
We want him to be happy and as independent as possible. We are considering ASO therapy.