Oscar's Story

We will never forget the day that the nurse doing the ultrasound on Leona’s 20 week old bump told us we were having a baby boy!  We had both dreamed of having a little boy one day, and that dream was soon to come true.

Oscar was born on 10 September 2008 at 00:36am, weighing in at a decent 7lb 14oz. 

In the early days everything seemed fine, but as the weeks and months went on we started to become increasingly concerned about Oscar’s development.  He looked at us blankly quite a lot, and it was very difficult to get his attention.  If we put him on the floor he made little attempt to move around and had limited interest in playing with toys.  Despite our concerns, every health professional we visited examined him and told us to stop worrying that he was fine.  Call it instinct, or ‘mothers intuition’ but his mum knew in her heart that something wasn’t right.  She insisted on a genetic test, and finally we had an answer... Oscar had Jacobsen Syndrome.

Jacobsen Syndrome is an extremely rare chromosome disorder.  There are little over 250 confirmed cases in the world, and it is said to affect just 1 in every 100,000.  In reality it is much less common than this and Oscar is the only one that we are aware of in the whole of Ireland.  Fortunately Oscar’s condition is relatively mild and he does not have any of the major organ defects which affect many of these children.  Through physiotherapy, speech therapy, and a lot of hard work at home (particularly by his amazing mummy), Oscar made astonishing progress and eventually was on par with other kids his age.  Many people actually said that he was more advanced than others his age in his speech and language- including his speech therapist who discharged him for talking too much!!!  On 12 September 2011, 2 days after his 3rd birthday, Oscar achieved one of our biggest goals- he started at a ‘mainstream’ playgroup.

In October and November 2011 Oscar spent quite a bit of time being in and out of hospital.  He first developed a very sore shoulder/collar bone which prevented him moving his arm.  X-rays showed no break but that the bone looked inflamed or infected.  Following a blood test he was admitted to hospital with concerns that he may have leukemia.  After another 4 days of tests he was discharged after he started moving his arm again.  We were told it was probably some weird bone infection or viral thing. A week or two later he developed similar pain in his hips and couldn’t walk.  He was re-admitted and after a total of 7 weeks of head scratching by doctors, and suggestions it could be leukaemia, bone infection, viral infection, chronic recurring multi-focal osteomyelitis, anaemia etc, a CT scan revealed that he had numerous tumours in his liver, spleen, lymph nodes, and also in the bones of his hips, legs and shoulder.  Oscar had cancer.  It was finally confirmed as High Risk Neuroblastoma, a rare children’s cancer which affects only 1 in every 100,000 children.

There it was, a second 1 in 100,000 chance.  First Jacobsen Syndrome, now Neuroblastoma.  As far as we are aware, Oscar is the only child in the world ever to have Jacobsen Syndrome and then be diagnosed with Neuroblastoma.  The odds of this are about TEN BILLION TO ONE.