The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome, a rare autosomal recessive syndrome that is usually fatal in childhood.
Watson having classic Cockayne's syndrome is much less than 1%, so finding ho mozygous changes to his ERCC6 gene via genetic screening does not significantly change the disease probability.
Now, just back from Boston, she has been told she could receive a drug expected to become available early next year and which could halt the progress of the debilitating Cockayne's syndrome
But specialists in the US said she has a rare type of Cockayne's syndrome
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome
Instead, the family raised the money to take her to America where specialists say she has a rare type of Cockayne's syndrome