On 21 August 2021, I became the mother of a wonderful boy, Dmytro. We are from Ukraine, Ivano-Frankivsk. The pregnancy was difficult, I had COVID, severe toxicosis, and later bleeding with the formation of a haematoma. However, we managed to save my son's life. The childbirth went well and as I was told: "I gave birth to a healthy boy". There was no limit to our happiness then.

However, at the age of three months, I began to observe my son's developmental delay, although the doctors convinced me that everything was fine. Dmytro looked like a normal child, gained weight well, and smiled often. However, he started rolling over onto his tummy at 8 months, and from his stomach to his back at 12 months. He didn't crawl, but rolled like a bun. At 11 months he started sitting, and at one year and four months he learned to sit up thanks to constant physical rehabilitation. Since he was seven months old, we have been taking massage, exercise therapy, bobat therapy, and swimming. We have been working with an early intervention teacher for four months now.

Dmytro also began to show interest in food late, around at the age of 18 months. Until then, he was spitting out everything. We managed to cure his anaemia with the help of iron supplements. He is still breastfed. It helps him to sleep at night and calms him down during teething. Since he was three months old, he has been constipated, so he has to take laxatives, which, unfortunately, do not help much either.

He has recently learned to walk with our help. He doesn't get up on his own and doesn't stand near a support. MRI of the brain is normal, as is the daytime EEG. He babbles "ba-ba", "tia-tia", "de", but without consciousness. He doesn't follow any instructions. There is no pointing gesture, and recently he has started to scream loudly. Dmytro exhibits aggressive behaviour (biting himself, hitting himself) when he is denied access to what he wants. He also doesn't understand the danger. Dmytro's main enemies in the apartment are a vacuum cleaner and a blender, as he is very afraid of loud noises. At night, he often wakes up screaming and it is difficult to calm him down. During the day, he sleeps for up to 30 minutes, and it is impossible to prolong his sleep. A few days ago, the first seizures were noticed.

Dmytro loves musical toys, swings, soap bubbles, water and everything connected with wheels, such as cars, trucks, etc. He loves objects with a smooth surface, and is especially interested in women's manicure. He is really fond of hugs and kisses and enjoys tickles. Dmytro is an extremely sociable and sweet boy.

Thank God, after a year of searching for the cause of the developmental delay, we met doctors who suggested taking a blood test for full exome sequencing. We had to wait two months for the result, but finally we found out the disease that united all the symptoms. We started to communicate with parents of children who had also been diagnosed with SYNGAP1 syndrome. Now we have managed to understand the most effective methods of rehabilitation and what to expect in future.

‍