Dear Editor,
A successful first All-Ireland Mucopolysaccharidosis (MPS) and Fabry disease conference was held recently in Templepatrick, Co Antrim and was attended by many families affected by Fabry disease and MPS, as well as specialists from Ireland and the UK working in this area.
Hunter syndrome (also known as MPS Type II) is just one of the mucopolysaccharidoses, a group of rare inherited metabolic disorders caused by a deficiency of a lysosomal enzyme involved in breaking down complex molecules in the cells of the body. Gradual build-up and storage of these molecules leads to the symptoms of the disease.
Children (almost always boys) with Hunter syndrome appear normal at birth but gradually develop symptoms in early childhood. Owing to the rarity and varying degrees of severity of the condition it is often not diagnosed until years after the first symptoms appear.
These symptoms include joint stiffness and immobility; skeletal irregularities; enlargement of the liver and spleen; coarsening of skin and hair; heart, chest and airway problems; recurrent ear infections and deafness. Many affected children also have progressive neurological disability with learning difficulties and behavioural problems. Life expectancy is reduced, primarily because of cardio-respiratory complications.
Currently services in Ireland for patients with Hunter syndrome are co-ordinated through the National Centre for Inherited Metabolic Disorders (NCIMD) at the Children’s University Hospital, Temple St, in close conjunction with the child’s local paediatrician, GP, hospital and community services.
Until recently, there was no treatment for Hunter syndrome other than symptomatic management. Recent major advances in our understanding of the molecular biology of this and other lysosomal storage disorders have led to the development of specific treatments, in particular enzyme replacement therapy.
At the NCIMD, since 2007, Irish patients with Hunter syndrome have been offered treatment with an intravenous enzyme replacement therapy – a synthetic form of the missing enzyme (idursulfase or Elaprase). This enzyme is given via a three-hour intravenous infusion once a week. It is currently administered in hospital. While not a cure (and the administration of a weekly infusion is in itself a burden), this treatment lessens many of the symptoms of the disorder and offers new hope to people living with Hunter syndrome.
There are a significant numbers of patients, both children and adults, now receiving life-changing treatments such as enzyme replacement therapy at the NCIMD. To date, all patients who fulfil the international criteria for treatment referred to us have had their treatment funded by the HSE.
It is important that people suffering with rare diseases are entitled to the same quality of medical treatment as those suffering with more common conditions. We hope to have ring-fenced funding for patients with inherited metabolic disorders to allow the further development of services and new treatments for rare disorders.
Dr Ellen Crushell,
Consultant Paediatrician with Special Interest in Inherited Metabolic Disorders,
National Centre for Inherited Metabolic Disorders,
Children’s University Hospital, Temple St, Dublin 1.
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