14th March 2012 was the day our world changed completely. This was the day our beautiful little girl, Anabelle was diagnosed with MPS 1, Hurlers Syndrome.

Anabelle was born on 18th February 2011 by emergency cesarean. She was 6 weeks early and weighed a slight 3 pounds 7 ounces. she was in a Neo Natal Unit for 16 days, she was healthy but needed to learn how to feed. Anabelle was always behind in her development and we had put this down to her premature birth. It was this and also the size of her head that the Health Visitor referred her to a Consultant Paediatrician. At this consultation a urine test was taken which  was swiftly followed by a blood test. Once the results were in we attended an appointment with the Consultant Paediatrician. This was the 14th of March 2012, a date we will never forget as this was the day our world had become a very dark place as our little girl was diagnosed with an incurable disease.

Within a week, however, we had been referred to Dr Vellodi, a specialist at Great Ormond Street. We were told that Anabelle would require Enzyme Replacement Therapy and a bone marrow transplant.
On Tuesday 27th March 2012 we attended the Kingfisher Ward  at Great Ormond Street and had our blood taken to find a tissue match for the transplant. We met Niamh and Victoria who are the Specialist Nurses on the Ward. The first session of ERT is to take place on Wednesday 4th April 2012. From these visits at Great Ormond Street Hospital and also reading some blogs some light was beginning to appear and we feel that Anabelle may have a future after all.


Anabelle in the Neo Natal Ward, QA Hospital, Portsmouth

Anabelle and Halfpint

Making Daddy Proud

Anabelle and "Ellie"