Matteo

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5 years old
Sydney, Australia

We were informed of Matteo’s diagnosis on December 9th 2021. Due to covid restrictions here in Sydney Australia, it was a remote appointment. I pushed him in his swing and his little four year old self laughed and giggled as the implications of his condition were explained to us. His five year old brother sat watching t.v. in the other room, mercifully oblivious to the life altering trajectory we were all about to be catapulted into.

Behind the neurologist’s head, as a sort of screen background, was a description of Syngap1. From the moment he started the call, we could see ‘Intellectual Disability ‘ in large, punch in the guts, print on the screen.

For anyone who hasn’t been through that, I’m not sure how to explain the feeling of devastation for your perfect little child. And, it is a feeling that doesn’t go away or get any easier. You just get better at hiding your sorrow and desperation for medical advances. Still, there was a sense of relief to be told his myriad of delays and symptoms were not due to the fault of anyone, not a birth injury or any other avoidable error. Four years of guilt ridden, and tear filled drives to hospitals, doctors, speech therapy, physio, and OT, wondering what on earth I had done wrong during pregnancy, were all unwarranted.

Another profound relief was hearing from the Neurologist that the Syngap1 community were actually incredibly powerful, proactive and supportive of families, and also trail blazers in research promotion both here in Australia and globally. To our eternal relief, that has turned out to be the truth. The incredible Danielle Williams, one of the first to have children diagnosed in Australia, called us on the day of diagnosis to commiserate with us and offer hope, another call I will never forget.Through weekly podcasts with founder of SRF Mike Graglia, we were given hope that cures are actually on the horizon, not to despair. We are confident that the science will improve his quality of life in the not so distant future. We have signed up for data sharing and are active in our Syngap community here in Australia. Anthony and I felt so grateful for the work that families affected by Syngap have done before us, that we both held birthday fundraisers in the months following diagnosis and managed to raise 22’000 dollars for SRF.

Matteo lives in a kind of sensory wonderland that means he is in awe of his surroundings and he runs around and squeals with delight most of the time. Simple things like a sighting of the moon will produce the kind of excitement I wish I could still muster. He has no danger awareness and we are constantly checking doors are locked when we are home as he would, and has, run into the street without fear of oncoming cars.He is one of the most endearing children I have ever known, although obviously I am very biased. He doesn’t learn like other children. By the time he was nine weeks old we had already been worrying about how floppy he was and his inability to hold up his head compared to his brother at the same age. He began pediatric physio at 12 weeks old and with a lot of hard work, he sat independently at 11 months, crawled at 14 months and walked at 21 months. Now at five he can easily manage stairs, running, ramps and obstacles and his physical therapist doesn’t really need to see him anymore.

Matteo is incredibly self directed, and has always resisted fiercely, all efforts to force learning on him. He will not even allow us to read him a book. However, he does learn when routines are set up and things are systematically practised with the support of visuals. Fortunately his 24 hour EEGs have not lead to an epilepsy diagnosis yet, although the most recent one did show up some ‘ sharp activity ‘ overnight. We are watching and waiting for that to change at any time. Matteo eats only pureed food and absolutely will not accept any finger food. We have to batch cook, puree and freeze all his savoury foods and make fresh smoothies every day with a Nutribullet. Despite this, or perhaps because if it, his actual diet is extremely clean, far more so than the rest of the family. His has no GI issues as yet. For now he remains non verbal with limited receptive language but he is learning to use an AAC device. Matteo has an incredible need for music and plays his favourite songs on Spotify all day,  every day.  He also demands lots of opportunities for movement everyday: hours and hours of swing, car rides, running up and down ramps, escalators , elevators etc. That vestibular seeking behaviour is very, very pronounced and repetitive, but it is when he is at his most joyful.

He has been attending short days at mainstream daycare since he was around 18 months and he is really adored by his educators. They remark about how gentle and sweet he is. This year he will start school in a specialist environment and we are looking forward to having him at a place where staff will understand him better.As for sleep, we hardly slept at all beyond 2am for the majority of 2022, however with the help of melatonin and rispiridone, sleep has returned to normal in our household. We know to enjoy this phase while it lasts, but fingers crossed it lasts a while longer.This year Matteo has taught us so much. He has given us a new perspective on things we thought were important, people we thought were our friends and also the power of asking for and offering help.  SRF teams across the globe have inspired us to do all we can for the good of our children. Together we can fight for a better chance for our kids. To any family newly diagnosed, please consider doing a Facebook fundraiser for SRF. If every new member did this just once, it would make an immeasurable difference.