Patient Access to Rare Disease Treatments

(PDF Version of the Report)

Rare diseases are not as rare as the name implies. Over 25 million Americans live with rare diseases. Many rare diseases are also considered chronic diseases, since they require routine medical care. And although some can be treated, most (more than 90%) do not have an FDA-approved treatment.

The development of innovative “orphan” drugs is often the only option for patients living with rare or orphan diseases. Orphan diseases are rare conditions that affect less than 200,000 people in the United States. Despite the high need for these therapies, there are not many options available due to the logistical challenges drug developers face.

We can change the reality for so many patients who live with life-threatening illnesses, and their families, by working to protect and encourage the development of orphan drugs and to ensure patients can access them through inclusive health technology assessments.

The QALY: A Discriminatory Healthcare Metric

The Quality Adjusted Life Year, or QALY, is an invented metric that values a healthy year at “1.0” and then devalues a person’s year to a fraction if they are diagnosed with a disease. 

The QALY discriminates against patients with rare diseases by valuing a patient’s quality of life as less than that of a healthy person, and therefore not worth enough to justify the cost of treatment. This puts the rare disease community at higher risk of not being able to access treatment and further deepens health care inequities.

Who Uses the QALY?

The QALY is used by the unregulated Institute for Clinical and Economic Review (ICER) to calculate the value of a treatment. Insurers may use ICER reports to decide whether or not to pay for rare disease drugs or therapies. Because the QALY devalues the lives of patients with disabilities, typically these reports are used by insurers to justify not paying for select treatments.

How Can We Stop this Discrimination?

In November 2022, patient advocacy group Patients Rising released the Health Technology Assessment Best Practices for Rare Disease Drugs which sets new standards that prioritize patient experiences, feedback, and needs to eliminate health disparities and put patients at the center of health care decisions.

We must bring the lived experiences of patients with rare diseases into the equation to increase patient access to care.

Patient Testimonials


Jenn McNary
Congressional District: MA-06

Jenn McNary is a rare disease advocate fighting for affordable treatments for her two sons who were diagnosed with Duchenne muscular dystrophy.

Jenn McNary
“As with anything, things don’t become on your radar until you’re actually up against them. And so ICER [the Institute for Clinical and Economic Review] was a non-issue in my life all the way until they announced a planned Duchenne muscular dystrophy meeting in Boston, and I’m local to Boston. Then I started doing some research on what ICER is, and unfortunately, I’ve never found a case where ICER was a friend to a rare disease community.”

Listen to Jenn McNary  (20:17).


Jen Hepworth
Congressional District: UT-01

Jen is a patient advocate and mother to four children, including her daughter, Penny, who was born with cystic fibrosis.

Jen Hepworth: “I first heard of ICER and could not believe that there was this institute that was valuing my daughter’s life and deciding whether or not her life was worth paying this amount of money for the drug that has absolutely saved her life. 

And it made no sense to me whatsoever. I can’t believe that they have enough say so that there are places like New York and Oklahoma who are taking their advice into what they’re willing to pay for their patients because Penny’s life has value, Penny is not just a number on a spreadsheet. She is a vibrant, happy, darling girl who should be able to live her life. And if there is a drug that allows her to do so, who is ICER to tell me that the insurance company shouldn’t pay for it?

Listen to Jen Hepworth (26:19).


Khrystal Davis
Congressional District: TX-10

Founder of the Texas Rare Alliance, Khrystal Davis, has a child named Hunter, who lives with a rare disease. She’s on a mission to get him the treatments he needs, no matter what.

Khrystal Davis: “It’s very concerning when you have an organization like ICER that adopts a metric, like QALY to evaluate treatments and not only those treatments, but those treatments as they apply to your child’s life. And in so doing, they actually determined that Hunter’s life is worth less than that of our other children.

Listen to Khrystal Davis (27:06).


Dorothea Lantz
Congressional District: FL-27

Dorothea is a Prader-Willi syndrome (PWS) advocate for her son Hunter, who lives with this disease. She talks about the importance of encouraging research and development in the rare disease space through incentives like the orphan drug tax credit. 

Dorothea Lantz: “​​This is basically the only incentive that pharmaceutical companies have to research [and] develop drugs for rare diseases.” For Dorothea, orphan drug development is critical to the future of her family.

These drugs give us hope that our children will be able to live a sort of independent life. Right now the prognosis for most people that have PWS is that they can’t be left on their own. They’ll have to go into a group home setting, somewhere where the food is regulated so they don’t eat themselves to death. Because with PWS, you never feel full, you eat and eat and eat and eat, and you never feel full, no matter how much you eat.

Without these trials, without these drugs that are in the pipeline, there’s no hope for our families to have any sense of normalcy in their lives, the way that other people would expect.

Listen to Dorothea Lantz  (24:55).


Rare Disease Infrographic