How Type 3 Gaucher Disease Affected My Family


Neuronopathic Gaucher's News Contents
Gaucher's News Contents


Ian gave a personal account of his daughter Emily who has Type 3 Gauchers disease and how it has affected his family.


Ian and Helen have two daughters, Beth aged 5 years and Emily aged 3 years. Emily was born in March 1996, a healthy 7lbs 10 ounces. The delivery was normal and all seemed well.

Slowly Emily's weight decreased and Helen noticed that she wasn't as active as friends' children. She then started to suffer from chest infections, coughs and colds. Gradually Helen started to feel that something was wrong although doctors thought that she was just another worrying mother.

Following a particularly bad chest infection Emily was referred to Preston Hospital where it was noticed she had an enlarged abdomen. She underwent scans, blood tests and was referred to Pendlebury Hospital where they were told that she had one of three things: a tumour, leukaemia or a metabolic disorder. Ian described how they thought that leukaemia would have been a better option as they knew that it was something that could be cured.

Shortly after they were introduced to Dr Ed Wraith who told them that Emily had Type 3 Gauchers disease, pointing out to them the typical head thrusts that Emily had.

Emily started receiving enzyme replacement therapy and had a portacath fitted.

Neurological Signs

Emily is small for her age, behind in some of her gross motor skills and suffers from re-occurring chest infections. Recently she developed squints in both eyes.

Initially Helen and Ian thought that this was a sign of neurological deterioration but now they know this is a common problem for children with Type 3. The squints are however a visual reminder of the disease.

Emily, although small, is a confident little girl who leads a relatively normal life. She does however keep her parents active, having suffered a broken ankle and a fractured skull.

Education

Helen and Ian are concerned about Emily's education. Already in nursery they have had network meetings to discuss Emily's needs. Initially when Emily started nursery, Helen had to stay with her every morning to ensure one-to-one supervision because of her vision and balance issues. Luckily the nursery now has funding for a worker. They are also preparing for Emily to go to school next September.

Ways of Coping

Ian spoke of his other daughter Beth who is 5 years old, emphasising that it is very important that both daughters are treated equally despite Emily's health needs.

He said: 'Our way of coping is to focus on the present and look at older children with Type 3 for indications of what the future may hold.'

Ian also expressed his thanks to Dr Wraith and Specialist Nurse Lorraine Burnett from the Royal Manchester Children's Hospital for their support and to the researchers everywhere involved in Gauchers disease.


Neuronopathic Gaucher's News Contents
Gaucher's News Contents

Source: Gaucher's News February 2000. © Copyright Gauchers Association 2000