Plymouth family raising awareness on rare disease

PLYMOUTH, Minn. (FOX 9) - Thursday, Feb. 29, marks the rarest day of this leap year. It is also Rare Disease Day and a Plymouth family is raising awareness about new legislation and their experience in the hope of helping others.

When Rowan Vachuska was just one week old, a routine newborn blood test detected she had Phenylketonuria or PKU, a rare genetic condition where the body does not break down proteins normally.

The diagnosis is scary and there's currently no cure, but the condition can be managed with a strict diet. Rowan has been on specialized medical formula since birth, has weekly blood draws and eats fruit, vegetables and other foods with no protein.

The cost of this life-saving food and formula is not cheap. For example, a small can of formula rings in at around $75. 

"A loaf of bread, for example, a couple bucks at the store. It's about $14.99 for a loaf of her bread," said Rowan's mom, Melissa. 

Currently, insurance companies are not required to cover medical foods and formula, but legislation introduced on Capitol Hill called the Medical Nutrition Equity Act is aiming to change that.

It would expand medical foods covered under Medicaid, Medicare, some federal health care plans and private insurance. Melissa hopes by sharing her family's story, others in the rare disease community will know they are not alone. 

"PKU is not going anywhere, anytime soon or any rare disease," said Melissa.