Ella was born in 2007.
At the time we lived in London. I remember the paediatrician being concerned over Ella’s head size and said that she felt this needed to be checked on a regular basis to make sure it was growing in proportion with everything else. A year later Ella was signed off from the hospital as although her head was above average size, they felt that nothing else seemed wrong. They also came to the conclusion that Ella was not an asthmatic but was just a happy weezer and that she would grow out of this. We still continued to be admitted to hospital with re-occurring chest infections over the winter months.
It could be something as harmless as a fluffy toy! I had a routine check with my health visitor and she suggested that Ella should have a hearing test. We tried to do this at our local hospital, but Ella was hysterical and would not participate in any tests.
Soon after, another lady, (teacher of the deaf), visited us at home and carried out some tests whilst Ella was playing in her own environment. She still couldn’t get a true picture and felt that Ella did have some hearing problems or loss. That teacher referred me to a specialist and it was decided that Ella would have a hearing test done under sedation because of her adverse reactions. Sadly it was confirmed that Ella had moderate hearing loss. I thought my world had ended but it did explain why she was not doing what other children were doing in terms of speech or social skills. Ella was soon fitted with hearing aids. I got home that day and thought how can this be so? Ella was tested at birth and everything was fine! So I called my consultant and saw him after a week or two.
I explained everything to the consultant and added that I had also noticed that Ella tended to walk on her toes. I was so worried that I insisted on a MRI scan. Alas this didn’t show any problem. So more urine and blood tests were done.
I remember driving home in a complete daze and thinking why us? How could this happen?
I had just moved to Dorset from London when I received a phone call to say that the specialist needed to see me that day. Of course I drove back to London and was told that Ella could have MPS III, Sanfilippo disease. We were referred to the Evalina Children’s Hospital and seen within two days. It was then confirmed after a further blood test that Ella has Sanfilippo Type B. Naturally I was devastated. I had been on the web and had investigated the condition.
The consultant also confirmed that currently there is no cure for the disease, and that the condition is terminal.
I remember driving home in a complete daze and thinking why us? How could this happen?
Ella is my only child and I am going to lose her. Things have become gradually worse since then. I have started to do my homework on this dreadful condition and realise what a debilitating illness this is. Things are unlikely to get better for Ella as time passes, unless a cure is found. The MPS Society continues to work with research and scientists to fund pioneering research into MPS III Sanfilippo.