Posted in Communicating for Social Change, Health Communication, Political communication

Rare Diseases: When Health Care Policy Kills

People with rare diseases are among the most vulnerable to changes in health care policy. Treatments for rare diseases, especially rare genetic diseases, tend to be expensive. The people who suffer from each disease do not comprise a large enough population to be heard in policy discussions. Thus, it is easy for governments to ignore the needs of these patients and make policy decisions that negatively impact them.

The incoming Republican administration seems determined to do all it can, as quickly as it can, to destroy the Affordable Care Act. Yet, despite the years of chest thumping about “repeal and replace,” Republicans have offered remarkably little discussion of any coherent health care policy. The reason for repeal seems to be no more complex than blind hatred of President Obama. The replacement that is supposed to be so much better remains unarticulated, both in vision and details. This slipshod approach to policy-making already has produced jitters in the health care industry, in the insurance industry, and among economists, as uncertainty and destabilization loom. But those who will suffer most from the effects of the incoming administration’s poor policy planning are those who also seem to be mentioned the least – the patients. For their sakes, it is worth remembering that health care policy can kill.

Laurence “Laurie” Hill died in New Zealand on December 30, 2016, at age 54, of respiratory insufficiency due to late-onset Pompe Disease (Harvey, 2017). Pompe Disease is a rare genetic disorder in which an enzyme deficiency causes glycogen to accumulate in the muscle cells. Patients typically experience the resulting muscle damage as progressive weakness in the skeletal and respiratory muscles. Laurie’s death at age 54 was not the inevitable result of the disease, though. Laurie died as a result of a deliberate health care policy decision by the New Zealand government.

There has been a treatment for late-onset Pompe Disease since 2010 — bi-weekly intravenous infusions with Lumizyme®, a genetically engineered enzyme replacement. While not a cure, research shows that the infusions can both extend the lives of Pompe patients and improve their quality of life. Before Lumizyme®, Pompe was a fatal disease; since Lumizyme®, it has been a treatable disease. Laurie’s government, which is responsible for health care policy and funding, refuses to cover the treatment in its health plan. In fact, when Laurie went to Parliament to appeal for treatment for the ten Pompe patients in his country, the prime minister’s security guards turned him away (Harvey, 2017). In effect, his government told Laurie to just go ahead and die.

New Zealand, through its health care policy, put Lumizyme® treatment out of the reach of ordinary patients, thereby rendering Pompe Disease a fatal disease for its citizens. Why? The short answer is that Lumizyme® is expensive. Although the precise cost of treatment depends on the patient’s weight, the annual cost per patient is estimated at approximately a half million dollars (Murphy et al., 2012). Thus, the New Zealand government’s decision to deny the drug to Laurie and the other Pompe patients reflects an economic calculation that, ultimately, their lives are just not worth the cost. I cannot imagine how it feels to be on the losing end of that calculation, but I may be finding out soon.

There are between 5,000 and 10,000 Pompe patients in the world. I am a member of the community of Pompe patients in the United States. Right now, we live in fear of what the incoming administration will do to limit our access to health care. Like Laurie Hill, we can be sentenced to death by government policy. The Affordable Care Act has been critical to securing our access to treatment because, among other consumer protections, it provides an annual out-of-pocket maximum for our medical costs, eliminates annual and lifetime caps on benefits, and prevents insurers from excluding those with pre-existing conditions from coverage. Eliminating the protections of the Affordable Care Act could well mean that, in the U.S., Pompe Disease will be once again a fatal disease, simply because the government put treatment out of reach of the patients.

On the same day that I received, through my Google Alerts, the story about Laurie Hill’s death in New Zealand, I also received an investment report that discussed the expectations for growth in the market for Pompe Disease treatment in coming years and the revenue-generating potential in this market. Apparently, Pompe Disease is a good investment — as long as you are not a patient. The U.S. government encourages research and development for treatments and cures for rare diseases like Pompe, most notably through such legislation as the Orphan Drug Act and the 21st Century Cures Act. Legislation provides various incentives to researchers and drug companies to develop treatments for diseases whose populations are too small to be of much interest otherwise. I am grateful for these incentives and the miracles they have produced. At the same time, I have to note that the focus of policy is heavily on the supply side.

Patients with rare diseases are on the frontier of research and development, too. It is the patients who have these rare diseases who participate in the clinical trials to test new treatments. Patients put their own bodies and lives on the line in hopes of finding treatments and cures, even if not for themselves, at least for others. Moreover, as patients undergo treatments that extend their lives, scientists gain the opportunity to learn more about their diseases. This has been the case with Pompe Disease, where improved patient survival has led to a better understanding of the mechanisms and effects of the disease, which, in turn, has generated research into new treatments. For Pompe, Lumizyme® is already considered a “first generation” treatment and “second generation” treatments are in development. Notably, too, Jules Berman (2014) argued that advances in understanding and treating many of the common diseases have resulted from, and will continue to come from, the insights researchers gain through studying people with rare diseases. None of this progress would be possible without the patients.

Patients with rare diseases do not set the prices for the drugs or any other aspect of the health care that we need. We are simply trying to live our lives as best we can, with symptoms most people do not understand. We are vulnerable to the quality of the policy decisions made by our elected officials, which could abruptly change or even end our lives. For example, a decision to reinstate caps on benefits or exclusions for preexisting conditions, or to eliminate annual out-of-pocket maximum payments, could turn Pompe Disease back into a fatal disease, not because there is no treatment, but because patients cannot afford it. Moreover, such policy decisions would create a bitter paradox in which the government uses tax dollars to support scientists and corporations in the development of treatments for rare diseases with one hand, while with the other hand making treatments inaccessible to the very patients who need them (and who pay those taxes) (Murphy et al., 2012).

The incoming Republican administration wraps itself in pro-life language. The hypocrisy is palpable. A truly principled pro-life position is one of compassion for all, one that demands keeping health care accessible and affordable, even for the rarest among us. We Pompe patients are just one segment of the larger community of patients with rare diseases. There are approximately 7000 rare diseases, defined in the U.S. as any disease that affects less than 200,000 people. Combined, about 25-30 million people in the U.S. suffer from rare diseases. And we are all at risk of suffering the same tragic fate as Laurie Hill, just so politicians can score political points.



Berman, J. J. (2014). Rare diseases and orphan drugs: Keys to understanding and treating the common diseases. London, UK: Academic Press.

Harvey, H. (2017, Jan. 5). Much-loved teacher and counselor, Laurie Hill, loses battle with Pompe Disease. Stuff. Retrieved from

Murphy, S. M., Puwanant, A., & Griggs, R. C. (2012). Unintended effects of orphan product designation for rare neurological diseases. Annals of Neurology, 72(4), 481-490. doi:10.1002/ana.23672

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