Posted in Advocacy, Health Communication, Political communication, Uncategorized

NORD Press Release on AHCA

NORD Issues Statement on Today’s Passage of the American Health Care Act

Washington, D.C., May 4, 2017—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, issued the following statement in response to the passage of the American Health Care Act:

“Today the House of Representatives passed American Health Care Act (AHCA). We are very disappointed the House pursued and passed this legislation, and we will continue to do everything we can to prevent this legislation as it is currently written from being enacted.

The AHCA jeopardizes the health and wellbeing of rare disease patients across the country. The bill allows states to opt-out of critical pre-existing conditions protections, including the prohibition on annual and lifetime caps and community rating.

Community rating prohibits insurers from charging individuals higher premiums based on health status. Without a community rating, pre-existing conditions protections are rendered moot, as insurance companies will once again be capable of charging higher premiums to those with pre-existing health conditions. Community rating is essential to maintaining access to quality and affordable healthcare coverage for rare disease patients.

In addition, the bill allows states to set their own Essential Health Benefits (EHB) categories rather than complying with the ten Federal EHB categories. Both the prohibition on annual and lifetime caps as well as the maximum out-of-pocket caps apply only to the EHB categories. If the EHBs are turned over to states, states could choose to allow insurers to once again set annual and lifetime caps on medically necessary services for rare disease patients by only mandating coverage of certain EHBs. States could also allow insurers to set prohibitive cost-sharing amounts without any out of pocket cap. We strongly oppose this measure as it is unacceptable to once again expose rare disease patients to these draconian caps and cost-sharing requirements.

Under the AHCA, federal funding of Medicaid would be substantially weakened by per capita caps and block grants, resulting in states potentially delaying or outright refusing coverage for necessary care under Medicaid. Rare disease patients seeking expanded Medicaid coverage would be turned away after 2019, and additional Federal assistance for the 1915(k) Community First Choice program would be removed. Many rare diseases are financially catastrophic with families often having no choice but to become single-income households because either an adult is sick, or a parent must stop working in order to become a sick child’s primary caregiver.

We remain unconvinced that the continuous coverage proposal will adequately incentivize healthy individuals to enter the market to stabilize premiums, or that the tax credit structure will provide enough assistance to low-income individuals with rare diseases seeking coverage.

We have said throughout this process that we are committed to assisting Congress and the Administration as they navigate ACA repeal and replace. We remain committed today to ensuring that Congress enacts legislation that improves the health and wellbeing of rare disease patients across the country. With continued dialogue and collaboration, we hope to be able to support legislation that improves the lives and wellbeing of rare disease patients.”

Retrieved from

Posted in Advocacy, Health Communication

International Pompe Day


Today is International Pompe Day, a day to raise awareness about Pompe disease. Pompe is a rare genetic neuromuscular disease, and most of us who have it can share frustrating stories of misdiagnosis, including being told that nothing is wrong with us (when we clearly know there is). My diagnostic journey took me through just about every specialty department in medicine. Quite a few years and dollars were involved. By raising awareness, we might be able to help other Pompe patients and medical professionals reduce the time from onset of symptoms to diagnosis. This is important because, as I learned at the Duke Adult Onset Pompe Conference last week, “time is muscle.” While there is no cure, a treatment is available that slows the progression of muscle damage. The sooner treatment begins, the better.

To learn more about Pompe disease, please visit Pompe Community.

Posted in Advocacy, Health Communication, Political communication

More on a Health Care Solution in Search of a Problem

Yesterday, I posted a response to the portion of the President’s February 28 address to Congress where he used the example of a young woman suffering from Pompe Disease, and her father’s heroic efforts to develop a treatment for the disease, as fodder for an attack on the FDA. I was motivated by the striking disconnect between the problem – developing effective treatments for rare diseases and making them accessible to patients – and the President’s proposed solution (gut the FDA). It was as if he had a solution in mind and then went looking for a dramatic problem that could justify his solution. The pieces just did not fit.

Since the President’s speech, others have dug deeper into this dubious connection between problem and solution, questioning the truth of the President’s claim that government bureaucracy was responsible for keeping new treatments from reaching patients who needed them. Their reports demonstrate that, contrary to what the President stated, the FDA process is not the problem in getting accessible and effective treatments to patients with rare diseases:

Herper, M. (2017, March 1). Would Trump’s FDA deregulation create an age of miracles? Don’t bet on it. Forbes. Retrieved from

Huron, J. (2017, March 1). NORD issues statement on President Trump’s Address to Congress. National Organization for Rare Disorders. Retrieved from

Johnson, C. (2017, Feb. 28). The backstory behind the rare disease patient Trump highlighted to Congress. The Washington Post. Retrieved from

Raymond, L. (2017, March 1). Trump’s disingenuous attack on the FDA highlights the precarious future of medical research funds. ThinkProgress. Retrieved from

What most of these authors did conclude, however, as I concluded yesterday, is that various other features of the President’s agenda may pose more of a danger to patients with rare diseases than FDA procedures. Health care policy is complicated. People’s health, welfare, and lives are at stake. We should be wary of the oversimplification, linear thinking, and easy scapegoating that serve a purely political agenda.

Posted in Advocacy, Health Communication

World Rare Disease Day 2017


February 28 is World Rare Disease Day, a day dedicated to raising awareness of rare diseases and improving access to care for patients and their families. For American patients and their families, this observance is especially needed, and especially meaningful, this year, as some members of the current US administration aim to dismantle the Affordable Care Act (ACA). The protections of the ACA, like coverage for preexisting conditions and the elimination of caps on coverage, are critical to patients with rare diseases. Let’s remember the needs of people with rare diseases during health care policy conversations. Better yet, let’s have people with rare diseases IN those conversations!



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