SYNGAP1? What the heck is that?

Five and a half years ago, we took our beautiful baby girl home from the hospital. Life couldn’t have been more perfect.

SYNGAP1? What the heck is that?
Matthew & Emese de Bohun ~ Mundi's Parents

Five and a half years ago, we took our beautiful baby girl home from the hospital. Life couldn’t have been more perfect. I mean we did it….she was there on time, without any complications, looking strong and healthy. She had 10/10 Apgar scores as well, no problem at all!! Apart from difficulties with latching on..but we were told that was normal and it would get better. Well, it didn’t. After 2 weeks our little angel baby turned into a forever crying, unhappy baby. She had reflux. A severe one. In all the photos we took of her in her first few months she was wearing muslin cloths around her neck all the time to catch the milk. We also had to keep her in a semi-reclined position 24/7 to make sure she doesn’t choke on her vomit.

Still, we convinced ourselves that this was within normal and didn’t think much of it. Life went on and it was lovely to take Mundi with us everywhere. People used to comment on how good and calm she was. Maybe too good for a baby to be true. Then at around 4 months when we first joined a baby group noticed how little she did compare to the other babies. She hated being on her tummy as well. This remained like this so when she was 7-8 months old we took her to a Deveny therapist in Hungary, who confirmed hypotonia (low muscle tone). That was our only “diagnosis” for a long time. Before the age of 2, no one seemed to do or suggest anything. I mean the professionals. “She will be fine, just a bit late with things”. With a bit of “persuasion,” they agreed to test Mundi for some genetic disorders which came back negative (Angelman syndrome, atypical Rett syndrome, Fragile X).

We moved to Hungary for 2 years so Mundi could have intensive early intervention to give her the best chance to catch up. She did all her milestones much much later and with real hard work for each step.

Still there at age 3, doctors finally started investigating about her developmental delay, doing all sorts of tests (EEG, MRI, EMG-ENG, ECG, blood tests). For our big surprise, we were told her EEG “is not very nice at all”. Had no idea this comment meant she had EPILEPSY! She never had fits or anything. So little we knew about absence seizures…

So yes she HAS got epilepsy and it is now controlled with medicine. Almost. Epilepsy did narrow the circle in the investigation though. They decided to do an epilepsy panel test on her, checking 200 epilepsy-related conditions. This brought us the diagnosis: SYNGAP1. What the heck is that? We never heard of it, nor did Mundi’s Hungarian neurologist but she explained the lack of proteins, etc.

Here we are. We are in a process of coming to terms with all this (she is still non-verbal and has ID which breaks our hearts). Bridge the Gap and the Syngap1 community is helping us in this. We support each other, we hope together.

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