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Massachusetts Fact Sheet

When Ava was around 18 months old, her parents, Alyssa and Mark, started to worry that something was wrong. Ava had met all her milestones except for walking, and an orthopedist that decided to order an MRI. Follow-up testing revealed the worst: Ava had MLD.

Ava rapidly declined a few months after diagnosis. The first year following diagnosis was difficult for the family. Ava was only comfortable in her parents arms. Now 10, Ava has never gone to school. She resides at home where Alyssa provides full-time nursing care. She requires medications to control seizures and muscle spasms and has respiratory treatments multiple times per day.

But one thing Ava adores is getting doted on by her siblings, Evan (3) and Lily (1), who were born through IVF. They love cuddling and watching tv together. And Ava loves going with them on family vacations and long walks. To Alyssa, newborn screening is hugely important. She dreams of a day where babies born with MLD won’t have to face the same things she and her family have had to endure.

 

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