Hello, my name is Oscar. I was born on 12/12/11 to my lovely mummy and daddy - Jenn & Andrew. At 5 weeks old I was taken into hospital and had an operation on my tummy because the tube going from my tummy to my small intestine was thicker than it should be and was making me sicky. This is called Pyloric Stenosis. This was a very worrying time for my family but little did they know this was the start of a whole lot more to come....
At 6 months of age I was admitted to Ocean ward because mummy and daddy raised concerns that I was pale and floppy. From that point on it was quite clear that there was something not quite right as I wasn't meeting my developmental milestones. The doctors did several blood tests, several lumbar punctures (taking fluid from my spinal cord), scans of my brain, ultrasounds and had my investigations sent everywhere- even to doctors in Amsterdam!
I was discharged when I got better and it was during an outpatients appointment when I was 8 months old that my neurological consultant told my family that I was diagnosed with Menkes Disease. Everybody was shocked and couldn't believe this because once they read about the condition it was really nasty and even though I wasn't well, nobody could believe it was that bad.
Children with Menkes are said to not live a very long life. This was obviously devastating news for my family.
When I was around 10 months old I had an ambulance ride to the hospital because I was having funny 'movements' at home. in hospital, my parents were told that I was having infantile spasms.
At 11 months old I was taken into hospital again because I was in a very deep sleep, had a very low body temperature and was unresponsive. It was at this point that my dietician ran tests and found it was too dangerous for me to continue eating and drinking and this is when I had a tube put into my nose to feed me my milk.
following this is when I had a full team of professionals involved in my care - Physiotherapy, Occupational Therapist, Portage, Dietician, Community Nurse, Speech And Language Therapist and all of my doctors. This is when mummy became addicted to coffee because we had lots of visitors to the house.
the next few months were fairly uneventful - I stayed at home with mummy and daddy and they got to know me inside out.....
