She was diagnosed April 1st 2020 after 2 long years of advocating for genetic testing. We were told so many times not to expect any findings, and that we may never know what was causing Laila’s developmental delays. We knew there had to be an answer and we are thankful to finally know why Laila is Laila, and to also have a sense of community; we feel truly thankful to be able to connect with other SYNGAP families.
We noticed Laila was not meeting some milestones around 4 months, and by 6 months she was obviously behind. Most notably, Lailas' fine motor skills were non-existent and she was not able to hold anything in her hands or bring toys to her mouth as babies typically do. Around 7 months we noticed peculiar head dropping episodes that looked like infantile spasm seizures. She had her first EEG at Sick Kids hospital in Toronto at 7 months old. Infantile spasms were ruled out, but Laila has been followed by neurology ever since. She had her most recent EEG in July 2020 and while Laila has not ever had a seizure that we know of, we were told there is a propensity for seizures later on and she will continue to be monitored closely.
Laila began receiving PT, OT and speech therapy starting at 4 months old and currently is also enrolled in an IBI program for behavior where she receives 20 hours of therapy a week. She also attends a city daycare 2 days a week to give her an opportunity to play with other children. Laila’s social skills have always been a strength of hers. She has formed strong friendships with the educators and children. Laila’s biggest challenges are motor planning and aggression. She has a very strong desire to communicate and is very frustrated by her body not cooperating with her! She has approx 10 words and uses 10 different signs (her favorites are "more" and "sorry"), but the PECS system was introduced at IBI and she has almost 100 images in her book that she uses regularly!
Laila is mischievous, cheeky, cuddly and sensitive. She is persistent, wildly adventurous and yet very shy. Laila has an older sister, Samia, who she adores and tries her hardest to copy. She follows her everywhere and can always be pulled out of a bad mood by her sister! Like a lot of Syngapians, Laila loves water. She can be known to have multiple baths a day and absolutely loves swimming. In the cold Canadian winters Laila can be found sitting by the fireplace for hours, she is obsessed with heat. Laila loves car rides, rolling in the leaves in the fall, being pulled around in her wagon and swinging on her swing. She is very picky about what TV shows or movies are on and she is the queen of the remote in our house, although she hasn't figured out how to work it just yet.
The best piece of advice we were given upon finding out that Laila has SYNGAP1 was this: "don't let her diagnosis overshadow her potential." Set goals and go after them! Laila has accomplished so much, made so many strides and done so many things we thought she may never do already. She will show us what she can do! Our biggest dream is that there is eventually a treatment discovered for SYNGAP1 and we will never give up hope that one is found in Laila’s lifetime.