Every day, Amanda Moller scoops powdered formula out of a can and shakes it up with water from her kitchen sink in University City, Missouri, a suburb of St. Louis. 鈥淚t's like mixing a cocktail,鈥� she said, "but not that much fun."
The formula doesn鈥檛 taste great 鈥� like watery pudding with a biting, cheesy aftertaste. But it鈥檚 something Moller needs to treat a rare metabolic condition she鈥檚 had since she was born. After 30 years, she鈥檚 gotten used to it.
Moller鈥檚 insurance comes through her husband鈥檚 employer, and doesn鈥檛 cover her formula. Like many treatments for rare diseases, the lack of well-funded research and the tendency of insurers to focus on the bottom line mean patients sometimes can鈥檛 afford necessary medical supplies. There are 16,000 people in the U.S. with PKU. Many of those people pay close to $1,000 each month to buy the formula they need.
So patients fight two battles 鈥� managing their disease and managing how to pay for it.
Moller鈥檚 rare condition is called phenylketonuria, or P.K.U. People with P.K.U. can鈥檛 process a certain amino acid in protein. To make up for the protein they can鈥檛 eat, phenylketonurics drink the special lab-made formula that removes the offending amino acid. Most use a powder, although other forms are available.
If people with P.K.U. don鈥檛 have their formula, two things can happen: First, patients might not eat any protein at all and become malnourished. More commonly, they end up eating protein in regular foods, and the offending amino acid builds up in their brains. That can give adults behavioral and intellectual problems and it can cause permanent disabilities in children.
When a supplier did not ship her formula on time, Moller, a social worker, went without. She couldn't remember her clients' names.
鈥淚t鈥檚 essentially like if you hadn鈥檛 eaten all day, like you鈥檙e on a fast,鈥� Moller said.
Moller works with women in desperate or risky situations as part of her job. She said she needs to be healthy not just for herself, but for her clients.
鈥淚t is not an option for me to not manage my diet,鈥� Moller said. 鈥淚 can鈥檛 be at second best working with survivors, that isn鈥檛 giving them everything they deserve.鈥�
Moller was on her parents鈥� insurance plan until she turned 26 and never had difficulty getting her formula. That changed when she transferred to an Anthem plan through her former employer 鈥� going from New Hampshire to Missouri.
鈥淚 never anticipated that they would actually deny me coverage for such an essential medical product,鈥� she said.
But that鈥檚 exactly what happened. Moller tried to appeal the decision with help from the advocacy organization the National P.K.U Alliance. She spent hours during her breaks and lunch at work appealing to her then-insurance company, Anthem. It didn鈥檛 work.
鈥淭hey said even if this was the sole source of nutrition for me, they would not cover it,鈥� Moller said.
Market pressure
The federal Food and Drug Administration refers to the formula and products like it as 鈥渕edical foods.鈥� The FDA doesn鈥檛 regulate them as prescription drugs, but they鈥檙e more than just food. Unlike people with celiac disease or Type 2 diabetes who also require special diets, people with P.K.U can鈥檛 manage their condition without them.
Medical foods started out as a prescription drug, but manufacturers re-classified them as a food in the 1970s to cut down on research costs.
So even though they function as a medicine, many insurance plans still categorize such medical foods as oral nutrition 鈥� which isn鈥檛 usually a covered benefit, said Dr. Jerry Vockley, a pediatrician and chief of medical genetics at UPMC Children鈥檚 Hospital of Pittsburgh.
Insurance companies are profit-driven businesses, said Vockley, who has studied the tension between insurers and people with rare genetic diseases.
鈥淭he free market pressures are all to save money, and not to save patients,鈥� Vockley said.
Representatives from Moller鈥檚 current insurer United Health and her former insurer Anthem declined to be interviewed. In an email, a United Health representative said that certain plans it offers do offer medical foods coverage for certain conditions.
Many insurance companies worry that if they cover formula, they might have to cover other food-based treatments, too, Vockley said.
鈥淣ow you have to evaluate the claim and you have to evaluate what鈥檚 necessary to qualify for that medical food,鈥� he said. 鈥淣ow you have this much larger population of autism... irritable bowel syndrome 鈥� hyperlipidemia! Are you going to cover low-fat foods?鈥�
Left out
Ninety-five percent of rare diseases lack an FDA-approved treatment. Many insurers use FDA approval as a shortcut to decide whether to cover a given treatment, said Tim Boyd, state policy director for the National Organization for Rare Disorders.
鈥淚n general, when you鈥檙e talking about treatment for rare disease, you鈥檙e talking about a realm of medical services that may not have a body of evidence for their underlying condition,鈥� Boyd said.
That FDA approval process proves that a drug works and that it鈥檚 not going to hurt anyone, Boyd said. And insurers, in the name of keeping costs down and keeping people safe, don鈥檛 want to cover a treatment that hasn鈥檛 been proven through this stringent process.
The nation鈥檚 healthcare system isn鈥檛 built to easily accommodate people with rare disorders, which don鈥檛 have the research and money behind them that other diseases do.
鈥淭he treatment protocols have long been in place. We understand what it means to effectively treat it [common diseases]. We understand how to pay for it.鈥�
A workaround
When insurers don't cover the medication, Bridget Tomic, a dietician at St. Louis Children's Hospital in St. Louis finds a way to help. She spends at least 25 percent of her time fighting insurance companies on behalf of her patients, trying to convince them medical foods are essential for their health.
鈥淚鈥檇 like to spend that time making our clinic better for our patients and really focusing on their diet and making it the best, but it鈥檚 so important to get their formula,鈥� said Tomic, who works with people with P.K.U.
When insurers don鈥檛 offer coverage, she鈥檚 found a way to help. Next to the fax machine, there鈥檚 a large cabinet full of sample cans of formula with expiration dates written on them in purple marker 鈥� medical foods that companies have sent the hospital to distribute to patients. Tomic keeps an eye on when those are about to expire, then calls people who lack coverage to offer them samples.
鈥淢y coworker and I are really good at watching this and making sure we can find someone,鈥� Tomic said.
She regularly sends cans to three or four people around the St. Louis region who have problems with insurance. Moller receives about a third of her formula this way.
But the distribution system isn鈥檛 a permanent solution, Tomic said. Many times, if people can鈥檛 get P.K.U. formula coverage, they鈥檒l abandon their diet entirely and lose touch with their doctor.
鈥淭here was one woman who was very excited, found a formula she liked. We struggled with coverage. She was buying formula online for $400 a can,鈥� Tomic said. 鈥淯nfortunately, she just got frustrated. I don鈥檛 know if she鈥檚 still doing formula or not, but I haven鈥檛 been able to get hold of her.鈥�
Other patients swap formula through Facebook groups. Sometimes, they even move to different states where insurance companies are required to cover it.
What can help?
Researchers creating a model that states can look at as the golden standard for medical foods coverage. States have different laws regarding who insurance companies should cover and for how long. Some require a patient to show financial need before medical foods coverage kicks in.
For example, Missouri only requires medical foods coverage until a child turns 6. Illinois doesn鈥檛 have coverage requirements, but does a have a state formula program that provides it to residents for life.
For more than a decade, the National P.K.U. Alliance has been pushing Congress to require insurance companies to cover medical foods. The most recent effort, the federal Medical Nutrition Equity Act, hasn鈥檛 made much progress. But recently, the military has started to cover medical foods as part of its insurance plan, Tricare.
People with P.K.U. hope that will inspire more companies to cover patients鈥� treatments.
But Boyd, of the rare disease association, and Vockley, the pediatrician, said all rare diseases patients need to work to get federal attention.
That鈥檚 what helped pass the Orphan Drug Act in 1983. A coalition of patients and advocates for rare diseases pushed a law through Congress that provide incentives such as tax credits and exclusive marketing rights to drug companies to spur development treatments for rare diseases.
鈥淚f you add all the diseases together that are rare they actually end up being not all that uncommon,鈥� Vockley said.
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