Norwich teens manage rare disease phenylketonuria

Fighting rare diseases: phenylketonuria
Published: Apr. 26, 2023 at 7:16 PM EDT
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NORWICH, Conn. (WFSB) - Two siblings in Norwich have the same rare condition that severely limits their diet.

17-year-old Marguerite Brown has no choice but to avoid meat, too much could make her extremely sick.

“My brain will start working more slowly like it’ll take me longer to answer questions”, Marguerite Brown said.

She has Phenylketonuria, also known as PKU. This is a condition that causes a build-up of Phenylalanine, a building block of protein in the body.

The disease is so rare there are fewer than 20,000 cases each year, but Marguerite shares her experience with her younger brother Henry Brown.

“I like for PKU to be a part of me but then not define me”, said Henry Brown.

They both have to take medicines to supplement the lack of protein they get.

Because the siblings can’t break down proteins, entire sections of the grocery store become off-limits.

Some of the foods they can’t eat include meat, dairy, nuts, fish, eggs, soy, legumes, quinoa, and a lot of grains.

From a young age Marguerite has had to ask whether meals outside the home and in school are safe for both herself and Henry.

“I had to always be outspoken...I had to go chase my brother down and be like ‘did you eat that?”, Marguerite said.

She’s probably the reason that I don’t have to worry about it as much”, says Henry.

Phenylketonuria is often found in a heel-prick test on newborns.

Undiagnosed cases can have disastrous effects on brain development.

The Browns are past that point and are able to manage their condition themselves.

Living with the disease for others isn’t that easy.

“Access to treatment for these things is often really difficult”, Marguerite said.

Their medication eats up their family’s $5,000 insurance deductible by February every year.

“It costs around $30,000 per child a year. And there’s a lot of families out there that don’t have that kind of money”, Henry said.

Marguerite recently spoke out again at a press conference arranged by the national organization for rare disorders to stand up for those with unique conditions.

“It’s a big issue right now across the state, people with rare diseases are having a hard time getting their covered by insurance...I spoke about the benefits to having treatment because I’m able to live a pretty normal life”, said Marguerite Brown.

For information on the Denise D’Ascenzo Foundation’s Walk to Cure Rare Diseases, click here.