The Centers for Disease Control notified New York authorities Friday that a biopsy confirmed the diagnosis.

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By the time a biopsy confirms the diagnosis, the disease is in its chronic stage, often with severe scarring of the liver and the threat of cancer and death.

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We have now received an appointment letter from Great Ormond Street Hospital in London for October 18, 2012 to take our children there in order to get a detailed genetic consultation, physiotherapy assessment, and to talk about Exon skipping plan based on results of biopsy for genes molecular diagnosis and its management.

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