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No cure for disease that affects just one in 100,000 children

By Victoria O'Hara

Published 19/06/2015

Hurler's Syndrome is an incredibly rare genetic condition that affects one in around 100,000 children.

It takes its name from Gertrude Hurler, the doctor who described a boy and girl with the condition in 1919.

What it means is that the patient suffers from the lack of an enzyme which without treatment means that complex sugars accumulate within the body's tissues, causing damage to them.

Currently there is no cure but a treatment called enzyme replacement therapy is common. This can involve a weekly synthetic enzyme infusion that helps to decrease any further damage to the body. Another effective treatment involves a bone marrow transplant so that the new marrow can make the missing enzyme.

This is part of the treatment that Leo has received. Stem Cell Transplant (HSCT) and Clinical Trials are also used to try and slow the syndrome down.

Without this treatment the condition is fatal and most children do not survive past the age of 10.

Symptoms include abnormal bones in the spine, cloudy corneas, deafness, halted growth, heart valve problems, including cardiomyopathy and coronary heart disease, and joint stiffness. Babies with Hurler syndrome often appear normal at birth.

Warning signs in babies that most often alert a doctor to the possibility of Hurler syndrome include chronic upper respiratory problems and hernias.

It is one of a group of disorders also known as MPS.

In the UK, between 1989 and 1999, there were 88 babies born with varying forms of the disease.

For more information on the condition visit www.mpssociety.org.uk.

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