My 9-year-old patient had been on the proverbial ‘diagnostic odyssey’ since she was 2 years old. She had been suffering from progressively worsening muscle weakness and dystonia, and was started on a trial of dopamine medication prior to her diagnosis. The G2MC Rare Diseases pilot project made whole exome sequencing possible for this patient, enabling a genetic diagnosis to be made. She was found to have inherited a heterozygous likely pathogenic variant in GCH1, consistent with a diagnosis of autosomal dominant dopa-responsive dystonia. 

The impact of this diagnosis was invaluable as it not only provided support and reassurance to her attending doctors, confirming that she was on the correct treatment plan, but it also identified an affected parent, allowing for their medical surveillance and possible future treatment. Although there is no cure for this condition at the moment, this diagnosis has provided her family with an answer and has also allowed for the identification of other potential at-risk individuals in the family. 

The G2MC’s pilot project to extend genetic testing services to regions where access to such level of testing is limited for most, has positively impacted the life of my patient and her family, as well as all of her health care provider’s ability to provide an excellent level of care for her.