Oskar was born in October of 2018 at 36 weeks gestation. My pregnancy was a bit rough with high HCG levels until 16 weeks, hyperemesis gravidarum throughout and gestational hyperthyroidism, however Oskar was healthy on all of his ultrasounds. It was mentioned that he had a low nasal bridge and short limbs but we thought those things were simply genetic. I had a placental haemorrhage and a 1.5 hour labour so Oskar was immediately sent to special care nursery and I was taken for surgery. When I came down to see Oskar after my surgery Oskar had a nasogastric tube inserted. He would not latch to my breast and he would not drink from a bottle. It was noted early on that Oskar had a large anterior fontanelle, very puffy eyes/eyelids left inguinal hernia and undescended testies.

Oskar spent 18 days in special care before coming home. His paediatrician raised concerns about Oskar's looks and said he looked different to most newborn babies and did not resemble me or my husband, he also said Oskar had a high palette and poor feed coordination.
Oskar was a small baby at 6 pound 2 and 44cm and he struggled to gain weight right from the start. I pumped and gave him my breastmilk through a bottle and he did gain weight but at a very slow pace.

I started noticing things were very wrong pretty early on, Oskar had terrible colic and would arch his back and stick his tongue out which did not seem normal, he also was a very stiff baby and would go stiff like a board. It was rare that he was floppy like a normal newborn. Despite these issues Oskar was a delight, always smiling and very social. We tried every anti colic solution known to man but nothing worked, eventually he grew out of it, but he still gets wind even now at 19months old. When we started Oskar on solids at 6months he did well, and loved his food! However he did not progress and still has not progressed from a pureed diet, we found out this is due to him being unable to move his tongue laterally.

At 4 months Oskar started physiotherapy and occupational therapy and he did well in both, it was noted he had very high tone in his arms and legs and low core tone, the reason he would stiffen was to support his low core tone. At 10 weeks he had surgery for inguinal hernia and then at 6 months surgery for his undescended testies. He also had an MRI at 13 months which showed normal. At 14 months he was sent to a geneticist who did a full blood panel and it came back showing that Oskar has a complete deletion in his SMARCA2 gene and that he has nicolaides-baraitser syndrome. We were told there are only two other children that have the complete deletion and roughly 100 with NCBRS (we now believe that number to be higher)

Oskar is now 19months and does not sit independently he does not crawl or walk, he can stand holding on to objects but does not move yet. He claps his hands and reaches for toys to play. We are still working hard in therapy each week on his motor development. Oskar says mumma, more and baba and is squealing and babbling all the time.. he is VERY social and will cuddle and kiss everyone. He loves music and singing and has just started dancing and bopping to music too. He is an absolute blessing and is always happy. He has a proper little personality now and is very very cheeky.. he is always laughing and loves when I tell of our dog because she is being naughty. He is a mummy's boy, and very clingy but he LOVES when daddy gets home from work and he gets dad time. He also recognises family members and will give them his biggest smiles. We would not change our little man for the world, he has taught us so much and brings us happiness every single day.