An Emotional Journey Begins – After a SYNGAP1 Diagnosis

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Introduction by Ed Gabler, SRF Volunteer and Communications Coordinator

The author of this post is Romana Bartoňková, a mother living in The Czech Republic. In her words, “Our story began a few weeks after Teodorek’s birth. He had health problems since birth. He had very severe atopic eczema, he is multi-allergic. Then, in April 2022, he started falling face down on the ground and a few weeks later he was diagnosed with epilepsy. Since then we have been waiting for the genetic results.”

Though her story began a few years ago, it just came to the attention of SynGAP Research Fund when she sent this message to @curesyngap1 through Instagram on March 4, 2024, at 6:01 PM EST: “Hi, our son was diagnosed with a Syngap1 genetic mutation, he is 3.5 years old and we are from the Czech Republic. Can you help us in any way or how do you work? Thank you for your time. 🙂 How many people in the world have this diagnosis?”

Sixty-eight minutes later, I responded, introduced myself and Cole, answered Romana’s questions, and encouraged her to connect with SRF and our Facebook group. Within a few hours, she shared a post on Instagram (@romanka_b) which I felt (and told her) was, “…beautiful and insightful. It is very much how we hope all families would feel on that unimaginably difficult first day.”

With Romana’s permission, I am sharing her post. I hope that it will assist others who seek answers, search for a community, or hope to find a silver lining in the initial depression that accompanies a SYNGAP1 diagnosis. I also hope that sharing this story will strengthen the bonds within our community as we continue to find more patients who have the same questions we all had on diagnoses day.

A year and seven months – that’s how long it took before someone finally told us what was actually wrong with our son.

A rare genetic mutation..Syngap1..Our new diagnosis..Listen, absorb it, find information, contact parents with the same diagnosis, absorb it, feel it, cry, wipe your tears, and move on.

I had such a day today and I have not really absorbed it yet. I contacted three moms, I know of a fourth. That’s about how many children are diagnosed with this syndrome in the Czech Republic. There are about 1339 people in the world as of today. The word “diagnosed” is important. But there’s also a 67-year-old lady abroad who is in a wheelchair. There’s an international SynGAP Research Fund (SRF), bringing together parents from all over the world with this diagnosis. They support scientific research, the development of new treatments, therapies, and support systems for patients worldwide.🙏🏽🌸

There are different degrees of this syndrome, from mild to moderate to very severe. Each child may have slightly different manifestations. Somehow, I still believe that Teodorek is my little big miracle and he is making progress and will continue to do so. But will he manage to live independently as an adult, and can he live a normal life?!. No one will tell you, it’s too early for conclusions. If you knew what all went through my head today about the future.

“Who will take care of him when I’m gone?!”

“If he has siblings, will they take care of him?!” “Is it too much to ask?!”

“Damn it, who will take care of him?!”

Actually, this one thought just kept going through my head. And then also a bit of relief, that I no longer have to explain to anyone why he still can’t walk, why he still can’t talk, what’s actually wrong with him. Hooray, I finally have an answer.

I’ve heard a few diagnoses since Theodore’s birth, but this one has grounded me the most so far, and now I’ll try to absorb it. I wish that more would be known about this rather rare diagnosis in the Czech Republic because our children are amazing beings. THEY are just DIFFERENT 💕

#syngap1 #syngap1research #curesyngap1 #mutacegenu #diagnoza #jsemjinej #teodorikus