Get treatable metabolic disorder GAMT deficiency as part of the newborn heelprick test
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My five year old daughter Tilly was diagnosed with the metabolic disorder GAMT deficiency this year. She was born developmentally normal but her disorder caused irreparable cellular and brain damage. She has severe learning difficulties, epilepsy and mobility issues. If she had been screened at birth she could have been saved and would have developed normally. I can’t save my daughter but I can save other babies from the same fate. I don’t want any more families to suffer the heartache of watching their child needlessly become intellectually and physically disabled. This condition can and must be prevented by including it in the newborn heelprick screening test offered to every baby in the UK at five days old.
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