James (MPS II)

James (MPS II)

James has MPS II Hunter disease.

My name is James. I was born in 1970 in Derry. I was my parents seventh child and already had five older sisters and an older brother. My mum knew from the first moment that she held me that there was something just that little bit different about me.

I was consequently diagnosed with MPS II Hunter disease when I was three years old. This diagnosis was made at the Royal Victoria Hospital in Belfast by Professor Nevin. He explained some aspects of the disease to my mum and dad but at that time I was the first and only child diagnosed with MPS in Northern Ireland.

Despite suffering from my disease, I had a very full and happy childhood, although I did suffer from some health problems, especially leading into my teenage years. I was always very prone to colds and chest infections and general respiratory problems and continually received physiotherapy to help reduce the build-up of phlegm. Later I also developed sleep apnea which meant I had to wear a c-pap mask every night whilst sleeping. At this time I was also using oxygen twelve hours a day.

This was a dark period in my life when I constantly felt unwell. It was decided at this time that I should start on a course of Enzyme Replacement Therapy (ERT) and had been taking the drug for approximately eight months, when I awoke one morning with a severe pain in my arm.

I was taken immediately to our local hospital where I was diagnosed with a collapsed lung. It was decided by the medical team that using the c-pap machine every night may have resulted in me suffering from a collapsed lung, therefore the best course of action at that time would be for me to stop using c-pap. I underwent lots of respiratory tests and when the results came back they were so positive that the consultant was extremely happy and I was able to stop using oxygen and c-pap completely.

This was great news to me, as a result of the oxygen being removed I found myself with a renewed sense of freedom as I wasn’t tied to my home and I was able to get a good night’s sleep (so was mum!).

I continued on my ERT and a year later I underwent more respiratory tests again. They like to keep a good eye on me! The results of those tests were fantastic, everyone, especially myself, was ecstatic. I hadn’t felt so well for a very long time.

Since being on treatment my life has changed completely, for the better of course.

I no longer suffer from sleep apnea, my spleen and liver have greatly reduced in size so I no longer have a protruding tummy and no longer look like I ate all the pies! My respiratory health has also improved dramatically and as a result I feel stronger.

Personally I feel that my hearing has improved and my hands have lost their claw-like appearance somewhat. Another positive outcome from my treatment is the change in my posture. I definitely now walk taller and straighter, thus my mobility has greatly improved as well. My skin is a lot softer and my hair is less brittle (I’ve saved a fortune on products!). I’ve also lost a little weight.

I genuinely feel that all the positive changes that occurred in my life during the last few years can be attributed to the introduction of enzyme replacement therapy to my life. I recently celebrated a huge milestone – my 40th birthday. Needless to say we had a huge party!

I never would have dreamt that at this stage in my life and at the grand old age of the big 40 that I would be so physically well. I feel blessed and realise the impact that the enzyme replacement therapy has had on my illness.