What I learned at 2017 Rare Disease Week

All of the New York state rare disease advocates outside Senator Chuck Schumer’s office.

I would like to give you a behind-the-scenes look at what the Narcolepsy Network staff and board members are doing to advocate for you in 2017, as well as the other rare disease advocates that we worked with on Capitol Hill.

Three days ago I traveled to Washington, DC with my good friends Piper Paul and Eveline Honig van Veldhuisen. Piper is a fellow board member of Narcolepsy Network, where she runs our Youth Ambassador program. Eveline is our Executive Director, and has done a fantastic job running the organization for twelve years now. This is Eveline’s third year participating in the D.C. Rare Disease Week, Piper’s second, and my first time (last year I went to Albany).

The event was put together by the Everylife Foundation’s Rare Disease Legislative AdvocatesThey organized the entire Legislative Conference, scheduled all of our lobby day meetings for us, and even provided travel stipends for some participants. Believe me, this was a lot of work, and we are incredibly grateful to their help in making Rare Disease Week happen. We could not have done it without them.

The legislative briefs from Lobby Day are available here, and videos from the Legislative Conference will be added there in the next few weeks. Keep up with what RDLA is doing by following them on Twitter at @RareAdvocates.

I would like to share what I learned from this experience, and give you a behind-the-scenes look at what the Narcolepsy Network staff and board members are doing to advocate for you. I’ll talk about what we did, why we did it, and some of the challenges we face in this uncertain political climate. I also learned a lot during this trip about the drug development process, legislative acts, and more—and I’m really excited to share it with you!


We came to Capitol Hill with two goals:

  1. Advocate for everyone in the narcolepsy community
  2. Take collective action with the larger rare disease community, because there is great power in numbers.

Speaking of numbers, did you know there are over 7,000 rare diseases? That’s right, SEVEN THOUSAND. Narcolepsy is one of them, of course — we are close to the edge of the definition (affecting 200,000 or less people at any given time), and it is considered a rare disease. Now, how many of those 7,000 diseases do you think have an FDA-approved treatment or cure? Unfortunately the answer is a whopping 5%.

That means that 95% of the rare diseases that have been identified have no awareness, no treatment, no cure, and little to no funding.

To put it another way: 1 out of every 10 people has a rare disease, and we’re only treating 5% of those people. How can it possibly be 10% of the population when there’s so few people with each rare disease? Well, add all 7,000 of them up, and you get a number pretty darn close to 10%. This is a pretty significant amount, which becomes even more significant when it comes time to vote in election.

Why aren’t there more FDA–approved treatments available for rare diseases?

This is a great, great question, and one that requires you to consider all of the factors involved. Let’s start with the incentives for a pharmaceutical company to develop a drug for rare disease patients.

It can easily cost $1B (yes, $1 Billion with a B) to develop a new treatment and take it to market.

When a pharmaceutical company is evaluating the prospects of a new drug, they have to consider the potential profit (we live in a capitalist system, for better or worse). If the projected profits don’t match or exceed whatever multiple of the development cost they are looking for, then it may not be worth it to proceed. Awareness of a disease is a crucial factor here — not only does a pharma company have to spend lots of money developing the treatment, they have to then find their target market and connect with them. The company has to figure out the Customer Life Time Value (CLTV) and ensure that exceeds both the development costs and the Customer Acquisition Cost (CAC).

Now, you as an advocate and/sor a person with a rare disease, may be left thinking “but that’s not fair, I just need someone, I don’t care who, to find a treatment or a cure.” And you are right, it’s not fair. The reality of the world we live in, and particularly here in the United States, is that without the government stepping in to help jump-start development of these “orphan” drugs, there may be very little commercial incentive for a pharma company to pursue a treatment for a particular rare disease. A $1B bet is a pretty massive bet.

Who can help the pharma companies out?

Well, our friends at the NIH (National Institute of Health) and the FDA (Food and Drug Administration) have been doing just this! This is one of the biggest asks we had across the board this week — we asked each senator and representative to please, please push to keep funding these agencies. There is great uncertainty at the moment with a federal hiring freeze in effect, and the possibility of budget cuts at these very organizations. Without getting too political, it is deeply concerning to the rare disease community that our government is considering raising military spending by 10% ($54B) while cutting essential agency budgets from the NIH and FDA that quite literally are saving lives. Of course the budget will change as it passes through the Senate and the House, so things are very up in the air at the moment.

How does a drug or vaccine get developed?

Here is an example of the process a pharma company will follow. I learned this by attending a highly informative session at the legislative conference, run by Jeffrey Sherman, the Executive VP and Chief Medical Officer at Horizon Pharma.

Notes on the drug development process from the legislative session. Thanks Jeffrey!

The process breaks down like this:

Drug Discovery: there are 10,000+ compounds that can serve as the building blocks of a new treatment. Finding the right ones to treat a specific disease must be like finding a needle in a haystack (I certainly don’t know as I don’t work in pharma, but this is how Jeffrey described the process). Needless to say, the process of identifying promising compounds takes quite a bit of time.

Pre-Clinical Trials: These can run from 1–2 years, and involve testing promising treatments on lab-grown cells and in animals. I am not a fan of testing on animals; but I do understand the value it brings, as it de-risks the development process. De-risking a treatment is good for humans, because it translates into a stronger likelihood that a treatment will pass through clinical trials and into production.

Clinical Trials: Phase 0 involves finding healthy volunteers who are willing to try a new treatment that literally won’t benefit them in any way — bravo to these brave souls! Phase 1: I may be slightly off here but up to 20 volunteers who have the target condition (the disease you want to treat) are recruited to test the efficacy and side effects of the treatment. Phase 2: This is usually the end of the road for rare diseases — this phase is complete when enough patients have been tested without experiencing any severe side effects. Due to the smaller pool of rare disease volunteers, there is no need to conduct a Phase 3 or 4 trial like a pharma company would for a more “mainstream” treatment. Continued data on efficacy and side effects will be collected via a REMS program and patient registries, so the FDA can monitor the treatment’s effect on patients over time.

FDA Review: At this point, the possible treatments have been narrowed down from 10K+ options to just a handful, and the review will lead to a single treatment that the company can then bring to market.

Manufacturing: The treatment will only be viable in a commercial sense if the pharma company can produce it at a large scale, and with a reliable enough quality to satisfy the FDA. This is, of course, in the public’s best interest for safety and reliability, especially when it comes to side effects.

Off–Label Drugs

The last factor I’ll discuss here is “off-label” use of a drug. What does that mean? It sounds sort of illegal. Actually, it’s perfectly legal, and it means the use of a drug to treat a condition that the drug is not approved for. Physicians can approve drugs for off–label use, and do so often for patients with rare diseases. There is a great incentive for pharma companies to get approval for off–label uses, and since 80% of the 7,000 rare diseases out there are genetic in nature, there may be a lot of potential overlaps in new treatments. That creates a win–win situation for both patients and pharma companies.

Discussing rare disease issues with Sarah, from Senator Chuck Schumer’s staff.

What did you do on Capitol Hill?

Over the course of three days we met with many other rare advocates, educated ourselves on various topics at the legislative conference, and had the opportunity to lobby for our causes and legislation with the staff of our state Senators and Representatives.

Documentary Screening & Reception

On Monday, Feb. 27th I arrived at D.C.’s Reagan Airport. As a side note, the Metro connects directly to the airport, which makes it even more convenient than flying out of JFK in New York. I spent the first half of the day exploring Washington (walked nearly 10 miles in total), but that’s not what you’re hear to read about! At 5:30 I met up with all of the other rare disease advocates at the US Navy Memorial to network and watch a documentary about Jerry Cahill’s amazing struggle with cystic fibrosis called Up for Air. I even got to briefly chat with Jerry after the screening, which was pretty neat.

Before the screening we had a cocktail reception with other nonprofit board members, their employees, and rare disease advocates. Every opportunity to talk with people from other nonprofits is a chance to pick their brain about how they run their organizations. These learnings translate directly back to our work as a board, since it is our job to set the strategy for Narcolepsy Network.

Senator Ed Markey (D), and Rep. Jim McGovern (D) joined us at the end of the reception and gave encouraging talks about our advocacy, the current political climate as it relates to the ACA, and what we can do to help push legislation like the OPEN Act and 21st Century Cures Act forward. They indicated, like so many others would this week, that the path forward for the ACA is fuzzy and ill–defined. As I write this the White House has introduced the first draft of a new law, called the American Health Care Act, that is being vigorously debated on both sides of the aisle.

Legislative Conference

On Tuesday we all gathered at the FHI360 offices to for the legislative conference. Our agenda was to learn new skills, strategies, and tactics to set us up for success on Wednesday, when we would meet with lawmakers on Capitol Hill.

We listened to speakers such as Wendell Primus (a top advisor to House Speaker Nancy Pelosi) talk about the role that rare disease advocates can play in preventing the full repeal of the Affordable Care Act. It was mostly a bipartisan discussion, which was great to see given that the potential repeal of this law would affect tens of millions on Americans, and the thirty million people in this country that are afflicted with a rare disease. (Yes, you read that number right — 1 out of every 10 people has a rare disease of some sort).

Affordable Care Act

The thing that some citizens seem to forget, and that politicians in Congress in particular seem to forget (since they have their own, expensive, government–provided healthcare) is that every single American benefits from the Affordable Care Act, regardless of where their insurance comes from. The Democrats (and some Republicans) have done a good job hammering home these facts, but need to do better. Part of our job as rare advocates, as we learned, is to help lawmakers understand the incredible impact that the ACA has had on us, within our community, and by extension to our family, friends, coworkers, and employers.

If you can believe it, prior to the Affordable Care Act insurance companies could do the following:

  • Discriminate based on pre-existing conditions. What is a pre-existing condition? If you were pregnant, sick, or had a rare disease, you had a pre-existing condition. How the bloody hell could pregnancy be considered a pre-existing condition, you ask? I don’t even know where to begin with that one. I’ll give you an example of how this affects someone, with a personal story: When I was diagnosed with narcolepsy in 2005, I had the unfortunate luck of being on the cheapest insurance plan I could buy. What I could never have known was that the moment I was diagnosed, I was labeled as pre-existing and the $3,000 that my sleep study cost would have to come out of my pocket. Because of the Affordable Care Act, this doesn’t happen anymore.
  • Create high-risk pools. I am not very familiar with this aspect of insurance, but as I understand it, this allowed insurers to lump sick, elderly, or rare patients into separate pools where they would have to pay higher premiums. The entire point of insurance is to get healthy and sick people into the same pool, since the heathy people will balance out the cost of treating the sick. And you know what? Healthy people will get sick. Based on what I’ve seen and heard on the hill, these pools may be making a comeback, which could be disastrous for the entire insurance system. This may in fact be intentional, and that is just flat out unacceptable.
  • Cap lifetime costs per person. Can you imagine telling a person with a rare disease, who can’t work and is on disability, that insurance will stop paying at some point for their treatment? That’s what insurers could and would do before the Affordable Care Act.

There are certainly many, many improvements that can and should be made to the ACA. It is a law that should be built upon, not torn down and replaced with an act that is (as it currently stands) essentially a massive tax cut for insurance companies and the ultra–wealthy. Repealing the individual mandate would also be devastating, because again you need a mix of healthy people and sick people to make the system work.

Learning how to work with Congress and the House on rare disease issues #RareDC2017

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The OPEN Act

This legislation was introduced in a previous session, and is back for round two. The OPEN Act would provide incentives to pharmaceutical companies to develop orphan drugs, and opens up the possibility for more “off–label” usage, since 80% of the 7,000 rare diseases out there are genetic in nature and may be related, or have overlapy in terms of new treatments. This was definitely one of our “asks” in terms of supporting legislation.

Lobby Day

Everyone got up bright and early to head on over to the Capitol for breakfast. We had a few speakers, including two Senators, and then we broke up into teams representing each state. I was with Eveline in the New York State group, the biggest by far with close to 30 rare advocates. Before heading over to the Capitol buildings we discussed what order we would introduce ourselves in at our first two meetings with Senators Gillibrand and Schumer. Our group was so large that we would have only 30 seconds to say our name and a very quick description of the disease we were representing.

It may sound silly, but is very important to have your “elevator pitch” nailed down for these types of short meetings. When you go meet with a Senator or Representative, there is no guarantee that the lawmaker will be there — you likely will be meeting with his or her staff. The staff members are an extremely important part of the process and should not be overlooked — they are the ones who will decide what information will or will not be share with the lawmaker. It is in your best interest to treat them with the same amount of respect.

Unfortunately, all of the Senators and Representatives were locked in debate that day. The new Congress had literally just started, and to say things were a bit chaotic would be an understatement. Staff were moving offices, construction was going on in the hallways, and with the status of the Affordable Care Act up in the air, the hill was abuzz with an uncertain air.

Sen. Gillibrand

Our first meeting of the day was with Senator Kirsten Gillibrand’s staff. We met in the hallway outside her office, as there were other meetings taking place inside. One by one we went around, telling her staffer about our respective diseases and the effects they have on people. We did not have very much time at all during this first meeting, but Eveline was able to convey the problems associated with narcolepsy in a very clear and concise manner.

Sen. Schumer

Our second meeting was with Senator Chuck Schumer’s staff. We crowded into a small conference room (small for the size of our group!) and again went around telling our stories. One thing that we learned was personal stories are very, very effective at getting someone’s attention — much more so than quantitative data. When you start talking about how you or your loved one is affected by a rare disease, people stop what they are doing and listen.

Meeting with @chuckschumer's staff for #RareDC2017

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Reps. Espaillat & Maloney

After that our group broke into smaller groups for sessions with the Representatives from our respective districts. Eveline and I met with Rep. Espaillat and Rep. Maloney from Manhattan, along with five other advocates. These meetings were much more intimate, and we were each able to go into much greater detail about the disease we represent.

At each meeting, we had several asks as a group. This is important to note if you would like to become a rare disease advocate (you can do it — anyone can!) You HAVE to end the meeting with specific asks of the lawmaker and his/her staff. This is how you push legislation and initiatives forward with government. Also important to ask is, “How can I help YOU achieve these shared goals?” We’re incredibly thankful to be able to participate in the lawmaking process here in the United States. Rare Disease Week is democracy in action!


State of the Union Address

Let’s rewind one day, as I can’t forget to mention the momentous occasion that occured the prior evening. For the first time at a State of The Union address, the President mentioned Rare Disease day—and he also honored Megan Crowley, an incredible 20–year old survivor of Pompe disease (life expectancy is less than I year, I believe).

Megan Crowley, a survivor of Pompe disease was honored at the 2017 State of the Union address.  

How can I contribute?

We need more volunteers and advocates who will hit the pavement, pick up a pen and paper (or a keyboard) and help us spread awareness about narcolepsy. You can start today by joining Narcolepsy Network, and letting us know how you would like to contribute. If you’re an advocate for another rare disease, find a nonprofit and volunteer your time. And if there is no nonprofit for your disease, you can contact Global Genes and they’ll help you start one!

And remember—you can always pick up the phone, and call your local city council member, your local representative, and your state’s congressperson. They are here to serve you, and they are listening.


A special thank you to Stephanie Fischer from the Everylife Foundation.

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