OSKAR our little sunshine

The story of Maria

Our son Oskar was born on the 8th of October 2018. During all of my scans Oskar was presumed perfectly healthy. At 36 weeks I went into labour at home, I was rushed to the closest hospital by paramedics and our boy was born 25 minutes after arriving.

Our first glimpse of Oskar was that of utter adoration and love. He was perfect. He had dark brown curls, tiny long fingers and a little squished up nose. 

Oskar was rushed to special care nursery to be checked over and I was rushed for surgery so we only spent 5 minutes together. Once I was out of recovery I rushed straight back to his side. 

A nurse informed us that Oskar was not feeding and had low blood sugars and so they inserted a nasogastric tube to ensure he would get adequate sugars and nutrients, but not to worry as most children learnt to feed within a day or two and would go home.

Oskar had very puffy eyes when he was born and it took him two days to open them. When he finally did though it was like falling in love with him all over again, he had the most beautiful blue/grey eyes. He had the kind of eyes that looked into your soul. 

Oskar took a long time to learn to feed and so here is where our journey started. 

We watched other parents and their babies come and go, some within a day and some stayed a few, but we congratulated each one so their baby learnt to feed and started gaining weight and they got to go home. We longed for that day and deep down it became more and more difficult as a new baby came and went. 

We took it in our stride though, I knew our boy would learn to feed, he just needed time.. he was preemie after all. 

I pumped and bottle fed and we did sideline feeding, I was told Oskar had poor feed coordination and that it may take him longer to go home as he would need to feed for 24 hours without tubes and he would need to start gaining weight prior to discharge. 

We had a running joke with the nurses and midwives that Oskar might even spend his 18th birthday on the ward. 

At 10 days old a pediatrician came to see him. He took a look at Oskar and mentioned that he beleived Oskar had dysmorphic facial features.. dysmorphic… a word I still despise.. as a new mum, this is not a word you want to hear in the same sentence as your childs name. The peadiatrician mentioned that Oskar had a very large anterior fontanelle and that he was different looking from me and my husband. I felt like this dr was beating around the bush, he was tiptoeing around what he truly wanted to say.. so my mum asked ‘are you saying he has a disability?’ 

The drs response was ‘well possibly, I’m saying we need to investigate further’ 

My head was spinning, disability.. further investigations.. what was this Dr talking about? Our son was nothing short of perfect.. how could he have a disability? 

Being a disability support worker for 7 years prior to having Oskar my mind went crazy with what ifs? What would his future hold? What about the dreams we had for him? Would he ever walk.. ride a bike.. play on a playground? Would he do martial arts with his dad like his dad always spoke about? Would he have friends and a partner or his own children one day? Was this my fault? Did I give this to him? Why were all his other scans perfect? Maybe Drs were wrong.. my head was a mess.

Drs ordered a cranial ultrasound and my husband and I eagerly awaited results.. that night we were told Oskar’s ultrasound was ‘normal’ and nothing else appeared wrong but further testing was required.

I went back to special care nursery that night and I remember making a promise to my son.. i promised to love him with every piece of my being reguardless of his differences, I promised to make sure that his dad and I always gave him the best that we could, I promised to make each day of his life as happy as he had made mine and to ensure he always had the best care possible, I promised to create new dreams for him, ones that he would be able to achieve and promised to not have expectations but to also not put any limitations on what he could or would achieve in his lifetime.

At 18 days young Oskar finally learnt to drink his bottle!! His tubes were removed and he came home!! It was the 2nd best day of our lives. 

We went home with this tiny human, not knowing what the future held and pretty darn scared (like most first time parents) but I think we handled it well. We got Oskar into a routine and settled into our new life as a family of 4 (dog included) 

Oskar was a beautiful baby, always happy and smiling from a very young age, he was a hard baby to feed but we worked at it and perfected it after a while. He did have bad colic but eventually he grew out of that.

At 8 weeks old we were called in to visit the peadiatrician for Oskar’s microarray results for genetic testing. I remember this day like it was yesterday, sitting, waiting.. waiting to find out what yours and your childs future may or may not hold. I am pretty good at putting on a strong front and so that’s what I did as we awaited results. 

Oskars tests came back normal there was no significant changes to his chromosomes.. this had me baffled, but also extatic. Maybe, just maybe the drs had it wrong.. 

In this same meeting I asked about Cerebral Palsy. Having worked with individuals with this condition  for many years I could see some signs in Oskar..  he would go very stiff, like a board and he appeared to have poor muscle control in his tongue and jaw. The Dr told me that Oskar was perfectly healthy except a slight heart murmur and he did not have CP.

We went home and continued our lives. Oskar’s dark curls fell out and were replaced by mousey blonde straight hair, his eyes turned even more blue and he was ALWAYS smiling. 

By 6 months I knew in my heart that his original peadiatrician was right, Oskar was different, he was in newborn clothing still, was tiny but proportionate, he was now eating pureed food and ate like a trooper but did not gain weight, he still woke 2 hourly overnight, he could not sit, roll or move and he did not laugh. He could say ‘mum’ but that was it. He would not reach out for toys or play with his feet.. he was like a newborn. His features were different to my husband and I and although I could see us in there he looked like a little pixie, with his upturned nose, long eyelashes and little sticky out ears. 

We went to his peadiatrician again at 6 months and this time there was more concern. His peadiatrician diagnosed microcephaly,  global developmental delay, hypertonia of his extremities and hypotonia of his core..he also sent referrals for extensive genetic testing to genetics QLD. 

He told me that these combined problems could just be who Oskar is, or it could be part of a syndrome.

And so I got to work, researching, constantly researching…I research every syndrome known to man (or so I thought) and I could not find any that resembled Oskar.. I ended up having to stop the researching and just wait.. wait for the tests to be completed. 

Oskar started in OT and physio weekly and started to grab at toys, roll over and started taking an interest in books and music. He was turning into the most amazing little boy, always smiling and happy and interactive. People would still ask how old my new born was as he was still tiny. But good things come in small packages! 

On his first birthday Oskar was developmentally like a 6 month old, and we finally got our first laugh! Ohh how we had waited for that sound, it was like music to our ears. The first few times he would laugh, I would end up crying.. I think because I was so overwhelmed. I wondered if I would ever hear him laugh! His little high pitched laugh still is the best sound I have ever heard.

November 20th 2019 I found out we were having another baby and Oskar would be a big brother.. my husband and I were so excited, but we had that small voice inside us both wondering if what Oskar had was genetic.. would this baby be ok? We love Oskar but having two babies with special needs would prove even more challenging, how would we cope? 

At 13 months we had our first genetics appointment. It was eye opening..  the genetesist was thorough, ensuring she checked every crease and feature on Oskar. At the end of the checkup she said ‘when I first saw Oskar I thought he had Kabuki syndrome (I knew what this was, from my hours of research) but he only has some features. From what I can see Oskar has deep creases on the soles of his feet, like a cat paw and so this would usually represent trisomy 8 mosacism, we will need a skin biopsy and blood work to see if this is what Oskar has and due to the new pregnancy I will rush it through as quickly as I can’ 

We thanked her and left. 

And so the research began, trisomy 8 mosacism is very rare, it means a child has too many chromosome 8s in some of their cells.. but not all. This is not tested for in a general microarray test. A lot of the symptoms corresponded with Oskar’s and so I was convinced.. this was our answer.

In December Oskar went for an MRI and skin biopsy and on the 14th of January 2020 we finally had our answer. 

We attended his genetesist appointment and his genetesist looked at her papers and started talking..

‘So we have completed testing and we know what Oskar has, but it is not trisomy 8’ 

What… what did they mean! I was so sure that’s what he had…

His genetesist continued..

‘He has nicolaides-baraitser syndrome, it is very rare, there are only 100 cases world wide, generally it is diagnosed because patients have a error in the SMARCA 2 gene, but Oskar has a complete deletion in this gene. This makes him the 3rd diagnosed in Australia with nicolaides-baraitser syndrome but the 3rd diagnosed world wide with the complete deletion, they generally are very small in stature, they have sparse hair and pixie like features, they generally have seizures which can be hard to control and 65 percent do not develop language. They have significant developmental delays and mild to moderate intellectual disabilities’. 

I sat listening intently to his genetesist. 

‘The gene is not passed down from you or his father, it is called denovo, meaning the baby makes it for the first time, but if Oskar goes on to have children he has a 50 percent chance of passing it on’ 

She went on to explain our unborn baby had a less than 1 percent chance of having the condition, we could opt for amniocentesis but we had a 1 in 100 chance of miscarriage. 

I was now 14 weeks pregnant with our 2nd child, I spoke with my husband and we decided we would not go ahead with amniocentesis as the chances were too low and the risk of losing our baby were top high.

I sat continuing to listen whilst Oskar sat smiling at me. 

I had a million questions, but ones his genetesist could not answer..how could he be the 3rd in the world? How did this even happen? 

I couldn’t ask why me because I felt too blessed to have him, but I did allow myself to wonder why him.. but only for a split second before the genetesist asked me ..

‘So are you ok? You are very stoic, you are not crying’

No, I was not crying.. because across the room was my son, smiling at me and saying mama, a vision of perfection, he was happy, he was healthy, he was loved. 

I made him, my husband and I made him and he has brought us more love in the last 15 months than we ever thought possible. 

I have never been a religious person, I have always considered myself agnostic..but in that moment I knew that there was a god and that Oskar was given to us for a reason.

I knew I had to be strong for my son.

Our journey with nicolaides-baraitser syndrome has only just started, and we do not know what the future holds.

One thing I do know is that our son is beyond anything we could have ever wished for, he brings us immense happiness and laughter into our home. He is blessed and he is loved and we are so incredibly proud of who he is and who he is becoming. 

Thank you for reading our story, I hope by sharing this I can raise awareness of nicolaides-baraitser syndrome and also show other people that having children with special needs is not the end of the world. These beautiful souls are here to teach us patience, kindness and above all love in it’s purest form.