By Maria, Nicolaides-Baraitser syndrome, Australia, February 25, 2021
Our beautiful little boy Oskar was with NCBRS just over a year ago, I first uploaded his story last year and here we are again raising awareness for Nicolaides Baraitser Syndrome. When Oskar received his diagnosis in January 2020 I was not shocked, I think I was more relieved, relieved to finally have answers! I remember the day like it was yesterday.. sitting in front of the geneticist with my mum by my side, my younger cousin Marlee across from me playing with her ipad oblivious to what was happening and Oskar sitting in his pram with a grin. I waited patiently with both hands cupped protectively over my growing 14 week pregnant belly hoping after almost a year of waiting we finally had answers. 'Your son has nicolaides- baraitser syndrome' the geneticist announced. I'm sorry nico - what.. I remember wondering why they'd made a syndrome with a name so hard to pronounce.. The geneticist wrote it down, for short it is called NCBRS. 'So what does it mean?' My mum asked, she was patiently waiting at the side of me, staying strong for me.. but I'm pretty sure inside her stomach was doing flips. The geneticist answered, well.. it is very rare.. 1 in 100 so far in literature and Oskar is the 3rd diagnosed in Australia. It is part of a group of syndromes which fall under the learning disability category.. some have mild learning disabilities, some moderate and some severe. Most have short stature, sparse hair,microcephally, pixie features, very happy disposition, GDD, problems with joints, scoliosis, feeding issues and hard to control epilepsy. I was listening, but all I was thinking was.. life expectancy.. what is his life expectancy.. everything else I can cope with. I probably looked like a stunned rabbit by this point.. "any questions?" The geneticist asked. 'Life expectancy' I finally blurted out.. ' what is it?' Expecting the worst but hoping for the best 'Well, we don't know' she responded.. ' this is a new syndrome, most children so far have made it to adulthood' I remember taking a huge sigh of relief as I turned to look at Oskar.. he was now in my mums arms smiling at me, I glanced up at my mum.. she had tears in her eyes but I knew she was holding them back, I glanced away as I didn't want to cry.. I wanted to be strong.. I'm unsure why but from a young age I always saw crying as a sign of weakness, I told myself I couldn't cry because others had it worse than me, that I needed to be thankful for what I had.. as if crying meant I was ungrateful for my son. I now know that is not the case and it is good to cry sometimes, that by crying or being upset it doesn't mean I love my son any less, but it is a good way of releasing my pain into the universe and opening up room for happiness and hope again. I looked back at the geneticist, I needed one more question answering.. I looked down at my growing belly, 'is it genetic?' I asked 'No, she said.. it is denovo' I took another sigh of relief, Tommy was going to be healthy and boy oh boy was he going to protect his big brother. It has now been just over a year since this meeting and Oskar is doing so well! He attends therapy 7x per week accompanied by his little brother Tommy. Tommy and Oskar have a special bond and I believe they will continue to do so. Tommy doesn't see Oskar's differences, he just sees his big brother, who is always smiling. We have learnt to accept Oskar for who he is and we love him unconditionally! we would not change him for the world, but we would certainly change the world for him! I am not sure why I was chosen to be on this path with Oskar but I sure am proud that he chose me to be his mum. every day with him is a blessing and although sometimes I wonder what his future holds, he is a constant reminder that we can not always see what fate has in store for us and teaches me the importance of taking each day as it comes. I've named this post Oskar the incredible because in August 2020 Oskar was featured in 'that's life's magazine in the health section, the journalist called the article 'Oskar the incredible' and I loved it! I couldn't agree with her more, Oskar is simply incredible!