Formula shortage impacting those with rare metabolic diseases

Formula shortage
Posted at 12:32 PM, May 24, 2022

Families across the nation are continuing to struggle to find baby formula, but the problem is also affecting those who use a formula for dietary needs.

Many facing rare metabolic diseases turn to formula not only as nutrients but also for medical treatment. People with metabolic disorders are on limited diets because they are unable to break down one of the amino acids in proteins.

“Formula can be anywhere from 30 to 80 to 90% of their diet depending on their tolerance and what their particular prescription is,” Executive Director of PKU News Sarah Chamberlin said.

This leads them to formula as a solution but with empty shelves, concerns are amplified for parents.

“My daughter has PKU and she was diagnosed at six days old. She’s currently only 8 and a half, but she will be on this diet for the rest of her life,” Chamberlin said.

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. - Mayo Clinic

When the human body doesn’t get enough calories, it goes into what is called catabolism. The body break down things like fat, muscle and stored carbohydrates.

“When they begin to break down their own muscle, they are releasing all of the amino acids including an amino acid that they can’t metabolize. In addition to not having their supplemental vitamins, minerals, and other amino acids from their formula, they’re also getting more of the offending amino acid from their own body,” PKU News Metabolic Dietitian Jennifer Beazer said.

With formula shelves empty, those facing metabolic diseases are left with few options and more risk of fatigue and other symptoms, which Chamberlin said are symptoms her daughter would be dealing with if it weren't for formula.

“Her, sort of, brain chemistry would be completely upended. If that metabolic pathway is messed up, she’s not going to have the ability to control her emotions, her thoughts, and the ability to concentrate,” Chamberlin said. “My daughter is now thinking about it more, which is troublesome because and 8 and a half-year-old shouldn’t have to be thinking about whether she’s going to be able to go to school or finish her softball season or whatever because of lack of nutrition”

In hopes of creating more progress toward a solution, people are urging the community to call congress in hopes of passing the Medical Nutrition Equity Act. The act would require health insurance companies to cover the cost of medical formulas like what people with metabolic diseases use.

This story was first reported by Nicole Camarda at KIVIin Boise, Idaho.