Izzy
Our daughter, Izzy, was diagnosed with SYT1, Baker-Gordon Syndrome, at the age of 10 and this is our story.
We were delighted to be expecting our second child, the pregnancy went smoothly, and the water birth was exactly what we had hoped for. There was not one indication of the challenges to come. In the early days, Izzy struggled to gain weight and we had to supplement breastfeeding with bottles however she was a settled and happy baby who loved nothing more than a snuggle. We later learnt that low muscle tone was the underlying issue. As the months progressed however, whilst her social skills developed, her gross motor skills such as rolling or learning to sit did not emerge. So many professionals told us not to worry and that babies develop at their own pace – however every instinct told us, there was more to it.
At 18 months, it was like a switch was flicked – all those reassurances suddenly flipped to a barrage of appointments and tests. Still not rolling or sitting, nowhere near standing, eating solid foods or being able to use a spoon, Izzy now ticked the boxes for further intervention. The following 18 months were amongst the most challenging of our lives, MRIs, genetic testing – we suddenly found ourselves under 13 services including speech and language therapy, occupational therapy, neurologists and more. However, our gorgeous Izzy remained a happy, smiley baby who was very content with the world around her.
Nothing could have prepared us for the day the Consultant shared that all those tests had returned no answers. This was the last thing we expected. Until that point, we were blissfully optimistic and anticipated answers, solutions and a pathway to getting development back on track. However, alongside the ‘no answers’ was also the message that most children presenting like Izzy would be learning disabled and she may not walk, talk or ‘catch up’. It was almost impossible to match this prognosis with the beautiful child we doted on.
Our mission from that day was never to allow this prognosis to limit Izzy’s development – we continued with all the therapies and gave Izzy the widest range of opportunities we could. Swimming, horse riding, biking, parties, reading books, ball pools – activities which we adapted for her needs and which she still loves to this day.
Another curve ball hit at age 2.5 years when Izzy had her first major seizures and we were suddenly back in a barrage of test – ECGs, another round of genetic testing and the long process of trialling epilepsy meds to find the magic combo that worked. We were lucky and epilepsy has been mostly controlled with few hospitalisations, however it remains one of the most terrifying aspects of her needs.
For the next 7-8 years, genetics went quiet – Izzy was ahead of the medical science however it was moving at pace. We had signed up to every research programme going – 100,000 genomes for example and Deciphering Developmental Delay which was the one that eventually provided the SYT1 diagnosis. Taking the call, out of the blue, in the middle of the first Covid lockdown will stay with us forever. Having come to terms with no answers, we were stunned and shocked – however having a diagnosis has given us a new community, and most importantly new opportunities to seek interventions that may remove some of Izzy’s barriers in the long-term.
Fast forward to 2023 and we have a gorgeous and very tall 12-year-old who makes us laugh and smile every day. It would be unfair to not share that we also have significant daily challenges with frustration, anxiety and challenging behaviours but by far the positives outweigh the difficulties. It has been an incredibly emotional journey so far for us as parents and we continue to battle for all that Izzy deserves. However, Izzy loves life and is a constant reminder of what is truly important – love, humour and giving anything a go, ski-ing - using a sit ski for Izzy - is next on our family list so wish us luck!