I live with my four children, three of whom have rare diseases. My sons Austin and Max both have Duchenne muscular dystrophy, and my son James has primary immune deficiency.
At the time my sons were diagnosed with Duchenne, there were no treatments for it. I was told to take them home and love them because they wouldn’t survive until adulthood.
When my son Max was 9, he enrolled in a study that resulted in the first approved disease-modifying treatment for Duchenne. The Food and Drug Administration approved this therapy, in part, based on its benefit to Max while in the clinical trial. But MassHealth has yet to approve Max for access to this treatment. He’s now 19.
Through my journey as a rare-disease parent, caregiver, and advocate, I have become deeply familiar with our Commonwealth’s health care system and the ways it does, and does not, support patients.
While the Duchenne community now has treatments, we, as well as others in the state, struggle to access them because, in their quest to lower drug costs, policy makers and insurers keep looking to easy and simplistic formulas that are overtly discriminatory to determine what treatments are worth, and who is worth treating.
Increasingly, they rely on a metric called the Quality-Adjusted Life Year. The QALY is concerning because it devalues treatments that extend and improve the lives of people with disabilities and chronic illnesses. The essence of a QALY is a disability “weight,” with different conditions receiving weights that ascertain what percentage a year in the life of a person with that disability is worth, in comparison to the year of a person in perfect health. A QALY of 1 constitutes a year of perfect health, a QALY of 0 constitutes death. Generally speaking, a year in the life of someone with a disability or disease will be quantified somewhere between zero and one. Relying on the QALY, a year of life lived with Duchenne is valued less than a life lived in optimal health.
For people who need treatment to manage a lifelong condition, like my sons, the metric fails to value the impact of treatment on their quality of life. For instance, Max, who started therapy much earlier than Austin, can transfer himself in and out of bed, cook meals, and wash himself in the shower. Both boys can breathe on their own without a ventilator, unlike most young men their ages living with Duchenne. Both can operate their wheelchairs, and neither has had to have spinal rod surgery, which most people with Duchenne have to have.
Academics may view certain quality-of-life improvements as insignificant, but I assure you: Duchenne treatment makes all the difference to my sons and our family.
The United States has banned the use of QALY in Medicare. And in 1992, the federal government denied an Oregon Medicaid waiver over its proposed use of the QALY in making coverage decisions, calling out its potential to violate the Americans with Disabilities Act. In 2019, the National Council on Disability, an independent federal agency that advises Congress and the federal government on disability policy, recommended that policy makers avoid using the QALY in any federal program, releasing a report finding that the use of the QALY violated United States disability and civil rights laws.
Yet insurers continue to use QALY either directly or by referencing third-party groups that conduct QALY-based cost-effectiveness assessments, like the Institute for Clinical and Economic Review.
Most recently the Massachusetts Health Policy Commission entered into a contract with ICER for the purpose of controlling costs. This should be alarming for every citizen of Massachusetts. Our family’s experience is a perfect example of the harm this contract may present to patients and people with disabilities. During the MassHealth denial appeals process, when we were seeking access to treatment for my sons, the nurse representative referenced the recent Duchenne ICER report, saying there is no “value” for non-ambulant patients, even if the treatment were free.
In other words, my son’s use of a wheelchair lowers his value as a person, according to ICER’s assessment. This completely ignores the value he and our family find in the improvements the treatment does provide him, like his ability to prepare his own meals and get in bed by himself. These seemingly mundane activities provide him independence and allow me to work and care for my other children.
A bill before the Massachusetts Legislature, An Act Advancing Health Care Research and Decision-Making Centered on Patients and People with Disabilities, would codify protections for patients and people with disabilities that would ensure access to needed treatments prescribed by their physicians.
To ensure my sons, and all patients in Massachusetts, can access the treatments they need, it is imperative that the Legislature pass the bill, which includes a ban on the discriminatory QALY, a requirement to rely on research that meets criteria of patient-centeredness, a process for robust engagement with patients and people with disabilities, and a physician override mechanism.
I do not want any other family to be in the situation I was in 18 years ago, when my doctor told me there was no hope for my children. These treatments now exist, and we must preserve patient access to them.
Jennifer McNary is an independent patient advocate and cofounder of One Rare, a nonprofit organization serving young adults with rare diseases.