By Maria, Nicolaides-Baraitser syndrome, Australia, February 25, 2021

Our perfect tiny boy!

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!

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Stories Of The Week

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia


Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...


Share your story

(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.