Quinn | Born March 2021

Quinn was born march 2021; no complications, no concerns at birth. We left the hospital the same day with our new little bundle on top of the world. At 6 weeks she had a health check and they had mentioned she wasn’t tracking and following that she might just be a little delayed and we would get a follow up in 4 weeks. She was healthy and growing well so we weren't concerned and thought she would just develop within the next few weeks. I bought lots of light up toys and did lots of tummy time trying to encourage her to track and follow before our follow up to no avail. She was referred to our ophthalmology clinic for further tests during this time. We noticed Quinn was still very floppy and not gaining head control she was send to a pediatric consultant who then referred her to neurology and genetics.

After months and so many tests we got her diagnosis when she was 10 months of SYT1, I felt like my world had just come crashing down but at the same time felt so much relief having a diagnosis. Quinn was already receiving physiotherapy, occupational therapist, speech and language, hydrotherapy and seeing lots of different professionals who we helping us.

Quinn absolutely loves being thrown in the air, tickled, massages, singing, loads of cuddles and is generally quite a happy content baby. As she's gotten older we've noticed a change in her vision and her VEP test showed signs of improvement for her vision. She's still pretty floppy with not great head control but some days she seems to have strong periods where she can lift her head a little, she still gets tired really quickly after her hard work.

Quinn slept great as a baby but recently started struggling to switch off could be up for hours a night, she started melatonin recently and that has made such a difference she's happier again because she's sleeping better as are we.

We have a range of supportive equipment for Quinn from her pram, high chair, sleep system and bathseat we are waiting of her supportive shoes, standing frame and a profiling bed arriving soon. For us getting the equipment was difficult at first but now I actually get excited for her new things because I've seen the difference it can make for her but it was tough at first.

Currently Quinn is still working on her head control and muscle tone, we are trying to encourage her hands to hold things for a longer period of time hoping that will help her chew her teethers instead of biting her little hands.

Her little personality is beginning to show through she's got a cheeky smile and loves to blow raspberries especially after food or a drink I'm sure she does it to be funny.

Overall SYT1 affects Quinns vision, she has hypotonia, GDD, hand biting and sleep disturbances.
We've been very grateful to have spoken with and shared experiences from other SYT1 parents who can relate to our journey.