Beata Tarasiuk is mom to 5-yr old Syngapian Kasia and 9-month old Milena. Originally from Poland, Beata, her husband and the girls live in AZ. She’s an active SRF volunteer, spending many hours helping families in the US and Poland navigate the challenges of the SYNGAP1 diagnosis.
Beata writes on Facebook: I have observed that many patients, generally, don’t know how to communicate with doctors. Ciitizen helps with that. Here is how: When you let them know that you are in the registry and have data, [it helps you obtain] quality care by providing a detailed analysis of the patient’s health records. I plan to write a testimony of how I got into Ciitizen and how it helped me organize and communicate with medical professionals.
And now, Beata’s Story
My name is Beata, and this is my story. I am a Syngap mom to a 4-year-old Kasia. Our story is similar to many other SYNGAP1 families. Kasia was diagnosed when she was three years old. She was my only child and was diagnosed with developmental delays. When the genetic counselor called with the news, I had no clue what she was saying, so I Googled it.
The trauma and grief of that moment still haunt me to this day. I scheduled an appointment with a neurologist, a psychiatrist, and a family doctor in the next few hours. I knew this was a road that I could not walk alone, so the next step was to find people who understood me more.
I am not a medical professional. I am a business major and spent the last 10 years working in education, most recently building vocational programs for high school students. I can tell you much more about cosmetology, welding, or medical assistant programs than EEG findings. Even though my husband is a physician, I am only as knowledgeable about medicine as Google allows me.
After talking to a geneticist, I already knew this was a condition no one knew much about. Hence, I searched and found some Facebook groups, and Syngap mom Jess messaged me. She connected me to the wonderful people at Syngap Research Fund (SRF). At the time, I had no idea what SRF was. I only knew they were kind and took the time to get me out of the black hole of grief.
Jess encouraged me to ask questions on the global support group, and I did. Within a few days, I knew what SYNGAP1 was and what I needed to do medically. They gave me a roadmap of things to do. Within two weeks, we had a 48-hour EEG scheduled, an autism diagnosis, referral to ABA therapy, and an epilepsy diagnosis.
In the meantime, Mike Graglia kept messaging me; again, I had no idea who he was. So I found a video on YouTube and learned about SRF. He kept checking up on me and telling me to sign up for Ciitizen. I didn’t fully understand what he was talking about at that point, but I already knew that they were to be trusted. I also knew there was truly no time to waste. If this was going to bring us closer to an understanding and a cure, I needed to prioritize it.
I can almost bet this part of the story is similar to any newly diagnosed person; someone from SRF contacted you asking you to sign up for Ciitizen. It took a leap of faith because I had no mental capacity to do comprehensive research on what’s what, but let me tell you–now that I am a year into the diagnosis, I can say without a doubt that this was the best thing I have done yet.
I informed my husband, a cancer researcher at a major university center with a background in bioinformatics. We weighed the benefits and reviewed the privacy and security facts; he was up for it. He stated that if we don’t make our daughter’s records available for SYNGAP1 research we might never have a treatment, so this can give us a fighting chance. He assured me that research is so regulated that there is no reason to worry about security.
Remember the 48-hour EEG I mentioned? The next day, I saw the neurologist, and he gave me the bad news that my daughter was having seizures. We treated it the same day. I had those results in Ciitizen even before my doctor could call me with the final result.
The same happened at the follow-up EEG: I had results in Ciitizen before the neurology office could contact me. I was shocked. I had all the medical files in one place and could download them whenever I needed to. One may say that's not a big deal, as you can get the same on a patient portal, but this EEG was done at a hospital outside of my usual care network, and my regular patient portal didn’t have this data.
As I continued my journey, I realized that some care providers didn’t know much about SYNGAP1, and it was on me to educate them. I had a choice: I could get mad, or I could do the work and educate Kasia’s medical team in hopes that they work with me. My goal was to create a medical team for my child with a lifelong disability that understands and takes an interest in her disease, so I educated them during every visit.
Now, we communicate and create medical plans as a team. I’ve found that providers appreciate parents that are engaged in advocacy and research. When I added Ciitizen to the conversation, it took it to the next level. Share with your medical providers, tell them you registered your child in a natural history study, and tell them you are involved. A visit to the neurologist becomes a conversation with peers, not a visit to the principal’s office. It is in your best interest to bring the conversation to this level. You will have a happy doctor, and you will feel like you are heard, understood, and taken care of.
Over the past year, I learned that there are over seven thousand rare disorders; one of them is SYNGAP1. It is here that my business background comes in handy. I ask, how do you stand out in a crowd of seven thousand? All these conditions are worthy of treatment. How do we get to people who make decisions? It seemed almost impossible.
I continued to learn from the people at SRF and was even more grateful for this organization that was already formed, helping with my daughter's diagnosis. I often thought, what if there was no one? No organization, no one working on a cure? Would I start something?
I am thankful to the Graglia family for starting it and for the continued funding, more than they will ever know. I am also thankful to all the people at SRF who donate their time and expertise; I truly have never met more capable and dedicated people.
We already have a place to fight for our children. So what does all this have to do with Ciitizen? Remember when I told you about standing out? We stand out by unity and readiness to participate. Ciitizen is a digital natural history study, a place where data from registered patients are anonymized, summarized, standardized, and made easily accessible to researchers who want to study SYNGAP1. The more patients in Ciitizen, the more data. The more data available, the better the chance that researchers will study our disease.
If you do nothing, nothing will happen, your child will not improve, and you will not have a chance to choose treatment; it will not come. It's on us to ensure that we have a fighting chance. We have to become extraordinary to have extraordinary results.
From a dream to a goal, that is where my journey took me in a year. Please sign up, don’t be scared. You can’t hide SYNGAP1 even if you try; you may as well embrace it and help all of our children and loved ones have a more self-directed life. Mike said once, “We burn grief by action.” It burned in my heart. Action is therapeutic.
Grief is profound, but hope is everything. A sense of belonging and safety in knowing you did what you could to help is priceless. Today I am an SRF volunteer, and I know so much more about this parent-led organization. Although it took me a minute to stop crying every day, I still cry sometimes.
I even cry as I write this. I burn this grief by action. If I could leave you with anything, it is that “When you do nothing, nothing happens.” Do something, sign up for Ciitizen. Stand out and show the world we care and are ready; it costs nothing.
Today my daughter has a sister; I am 44 years old with a five-year-old Syngapian and a six-month-old baby. I am tired, but I took the time to write this letter so as to help you choose to burn your grief with action. Please enjoy the photos of my girls, my world.
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