South Yorkshire boys’ rare disease

Xander and Max Tattersall
Xander and Max Tattersall
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Two young brothers are getting the treatment they need after being diagnosed with a rare genetic condition.

Xander Tattersall, aged seven, and his brother Max, four, from Gawber in Barnsley, have homocystinuria, which affects the nervous system and can lead to blood clots and osteoporosis.

The boys have experienced learning and behavioural difficulties, which caused stress for their parents - but life has changed since they were referred to Sheffield Children’s Hospital where they were diagnosed.

Their condition prevents the body from processing an amino acid called homocysteine, essential for development.

Xander and Max are being treated with a low protein diet, as well as drinks containing amino acid supplements.

An unusual side-effect of the regime is that the boys’ hair has changed from blond to dark, as homocystinuria affects pigmentation.

Mum Sophia Tattersall, aged 34, said she was ‘relieved’ to find a reason for her sons’ difficulties.

Today is National Rare Diseases Awareness Day, and experts at the children’s hospital are currently assessing whether five new tests - including one for homocystinuria - should be added to the UK’s newborn screening programme.