Royal Free London NHS Foundation Trust
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Lysosomal storage disorders
Lysosomal storage disorders

Services provided

Patients attend the unit for assessment and diagnosis. They are seen by one of the doctors who work alongside the nurses and a detailed clinical assessment is conducted. The patients then undergo investigations which include blood and urine tests, x-rays, scans and biopsies where appropriate. A biopsy is where a small amount of tissue is sampled usually under the cover of an anaesthetic and then examined in detail in the laboratory. Patients regularly undergo special scans of kidney function, heart function and brain function; and they also undergo detailed examination of eyes, ears and nerve function.

Many patients require a one night stop over in Hampstead and are typically accommodated in one of the local hotels. Some patients require special tests done at an adjoining hospital eg. The Heart Hospital in Central London. All transport and accommodation after arrival in Hampstead is arranged by our staff. Patients come from all over the United Kingdom including Scotland, Ireland and the Channel Islands. We try to see family members together whenever that is appropriate and children can be seen by special arrangements by one of our visiting paediatricians in a family clinic.

Patients are regularly assessed, at least on an annual basis. Those individuals who are receiving treatment are seen every six months.

 
page last reviewed: 06 March 2012