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After a particularly difficult labour, our beautiful daughter Emily was born on 9th July 1996.Within hours of the birth she found herself in SCBU (Special Care Baby Unit) struggling to breathe as she had RDS (Respiratory Distress Syndrome). That first week of her life was an exceptionally anxious time for us as new parents but it in no way prepared us for the emotional rollercoaster ride that we had, unknowingly, embarked upon.
As Emily grew into a robust, happy toddler it was clear that she had developmental delays, hearing and communication difficulties and the ever-present “toddler diarrhoea”. Being Health care professionals we were acutely aware that her difficulties were not simply developmental, but convincing others of this proved difficult.
After a number of very stressful and invasive tests (e.g. whole body x-rays, interviews with the genetic service and blood / urine tests) we were finally given a diagnosis of MPS Type III A – Sanfilippo. We were instantly referred to the Willink at Manchester Children’s Hospital where this degenerative disease and its progression were outlined to us. We sobbed all the way home and for some time after.
We had been given several pieces of literature relating to Sanfilippo A, much of which came from the MPS Society, so we decided to contact them and were put in touch with the Advocacy Team. The support and understanding we received then and continue to receive today seemingly knows no bounds and at times is a lifeline for us. The MPS help us to find the strength to fight for our daughters rights in receiving the care, education and quality of life that she, and the rest of the family, deserve.
Of all of the difficulties we are exposed to with having a Sanfilippo daughter (e.g. challenging behaviour, hyperactivity, aggression, communication difficulties…) by far the most difficult for us is that of sleep disturbance. Many weeks passed where we would manage anything between 10 minutes and 2 hours of sleep a day and trying to get by on a daily basis with this feeling of absolute exhaustion was immensely difficult and had a huge impact on our family life. However, through the endeavours of the MPS Society we did function and have remained a happy family unit.
Emily is 11 years old now, and is generally much quieter and less active than she has been. She struggles to walk and spends a large part of her day in her wheelchair, often napping throughout the day – although she still has to have sedation in order to sleep for a little while during the night! She has had swallowing difficulties culminating in the need for a gastrostomy, through which we give her all of her medicines, whilst we puree her food and thicken her liquids which she can than take orally.
Throughout most of each day Emily appears to be in a world of her own, not seeming to understand much of her environment or know the people within it but there are still flickers of light and recognition and her smile and sparkling eyes brings joy to all of us who love and know her.
Today, there is no “cure” for this obviously disabling disease but we are aware of some exciting research being undertaken in various parts of the world which, although too late for our daughter, may positively affect the lives of Sanfilipo children in generations to come.
We often say that Emily’s life is like a novel, the best often remain unfinished, but with the help of the MPS Society, every chapter of Emily’s life has been full of love and happiness and has enriched the lives of all of those lucky enough to be a part of it.
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