Osten, Conley advocate for families of those with PKU, a rare genetic disorder.

Norwich mother’s story prompts proposed legislation from Osten, Conley

Two state lawmakers from southeastern Connecticut have introduced legislation that would require insurance companies to pay more of the cost of the special food needed by people diagnosed with phenylketonuria, or PKU.

The rare inherited disorder causes an amino acid called phenylalanine to build up in the body, according to the Mayo Clinic. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems. People with PKU — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein.

Roughly 16,500 Americans are living with PKU, according to the National PKU Alliance.

Sen. Cathy Osten, D-Sprague, and Rep. Christine Conley, D-Groton, proposed the bill after hearing last year from Candice Flewharty, a Norwich mother who described her family’s struggle to cover half the cost of a low-protein formula for two children with PKU, ages 15 and 12. The Flewhartys’ share of the cost averages about $36,000 per child per year, according to a news release the lawmakers put out.

“At least once a year, and recently about every three months, Anthem refuses to cover our formula,” Flewharty wrote in a letter. “It has happened with both of our kids’ prescriptions. We will figure out how to pay for their formula and food, or we will need to move to a state that has a better mandate.”

Senate Bill 319, which would require health insurers to cover the cost of medical foods for individuals diagnosed with PKU, is currently before the legislature’s Insurance and Real Estate Committee.

“The legislature is very aware of the problems that families face with the cost of medical drugs and supplies, and in recent years we’ve passed laws requiring insurance coverage for a variety of medical conditions, from insulin and hearing aids to ultrasounds and prosthetic devices,” Osten said in a statement. “I don’t see where a PKU diet is any different. And we’re not talking about a minor inconvenience here. We’re literally talking life and death.”

“PKU is a devastating disease, and a proper diet plays a crucial role in maintaining the health of someone afflicted by it,” Conley said. “Families should not have to sacrifice the health of their loved one because of an overwhelming financial burden.”

Osten is scheduled to speak about the issue when she addresses the Connecticut Rare Disease Action Network and National Organization of Rare Diseases virtual Zoom meeting from 9 to 10:30 a.m. Feb. 28, which is Rare Disease Day.