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New York Fact Sheet

Amanda originally found out that she was a carrier of MLD in prenatal testing in 2016 when she was pregnant with her first daughter, Gemma. Joe was tested and was not a carrier for MLD, so they thought that they wouldn’t have to worry. When Gemma’s younger sister, Aria, was born in 2021, the Buccheris were not worried about genetic conditions.

However, when Aria was around six months old, Amanda and Joe noticed that she wasn’t hitting her milestones and she had “hypotonia” (low muscle tone). In a brief encounter before Aria’s first birthday, an urgent care doctor noticed that Aria had a bifid uvula. With this and some other symptoms, Amanda decided to consult google for some answers and found that a genetic condition was likely

In September 2022, Aria was originally diagnosed with Phelan McDermid syndrome. This is a chromosome deletion of the 22nd chromosome. Aria’s specific deletion included the ARSA gene, which is the gene linked with MLD. With Amanda’s MLD carrier status, the geneticist realized the need for MLD specific testing. Aria was officially diagnosed with MLD in late December 2022 during a telehealth visit.

It was hard for Amanda and Joe to process the change to Aria’s future.

Aria is still quite young and loves her sister and family. “We are lucky in a sense that we know what to expect as this disease progresses, but it is still difficult to know that it could have been caught earlier if it was included on the New York newborn screening panel,” says Amanda Buccheri, Aria’s mom.

 

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