Rosamund (Mundi) was born in August 2014. Life couldn't have been more perfect! 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 severe reflux.
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 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 we noticed how little she did comparing 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 is 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. She HAS got epilepsy and it is now treated with Keppra.
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 of SYNGAP1.
Mundi is non verbal but can communicate to a basic level through the use of gestures and picture cards. She is a very affectionate little girl and generally good natured although she does get meltdowns when she becomes frustrated. Her sleep patterns can often be erratic as well with a spell of good nights being followed by some very disturbed ones.
She enjoys physical and sensory activities (playing with water and sand), she has very specific tastes in music, and also likes to be outside a lot!