Rare Disease Legislative Advocates

By KCNQ2 Cure on March 6, 2019



Last week I spent two days around the halls of Congress, lobbying as part of the Rare Disease Week activities on Capitol Hill, organized by the Rare Disease Legislative Advocates (RDLA). Each year, hundreds of rare disease advocates from all across the country and all political stripes descend on Washington DC to help lawmakers better understand what it means to live with a rare disease, and to advocate for the funding and support to more quickly diagnose and better serve individuals with rare diseases. It was great to represent the KCNQ2 Cure Alliance and all of our families, and to speak to so many politicians. It was also amazing to be part of such a large, powerful and positive group. The Rare Disease Week lobbying effort was divided into two halves, Monday was for training and prep, and Tuesday was the day to knock on doors and get face-to-face with our representatives. If I tried to write about everything that I saw and everyone that I talked to over the course of the two days, this blog would be way too long. But I want to highlight a few keys things that I saw during my two days that I think are important to share.

Before walking into the halls of Congress, RDLA brought us all together to talk about what we should expect and the current state of affairs of rare diseases in Congress. The topic of most interest to me, and likely many KCNQ2 families, was newborn screening for rare diseases. I wasn’t sure what to expect but immediately it was clear that there were reasons to be hopeful for progress. In a very partisan city, I heard rare disease issues referred to as either “bi-partisan” or “non-partisan” by members of both parties and by lobbyists. An early and correct diagnosis of a rare disease means more appropriate treatments can be administered faster, and this has powerful benefits, including lowering the cost of care for a person’s lifetime. No one is against that. Current legislation that ensures newborns are screened for a set of rare diseases expires this year, so one of our asks of our representatives was for reauthorization of the act that mandates rare disease screening when a child is born.

Sitting in a room of nearly five hundred people, I was struck by just how much larger this is than I thought. Being the parent of a child with a very rare disease can be isolating. You are often dealing with a unique set of circumstances and the “typical” world can feel miles away. But getting into a room with nearly 500 people from all over the country changes that. It becomes easier to see that gathering together all rare diseases means that we now have something much more common. In fact, if you brought together all Americans who live with rare diseases, you would have the second largest state in the country — of approximately 30 million people! Our needs are often overlapping and the impacts on family members and caregivers means that the circle gets bigger and bigger. The number of people impacted by rare diseases is, in fact, very large. We are not a small voice at all.

Another connection to a bigger picture also became clear: research on rare diseases can help people with more common ones. A second legislative ask was increasing funding to the National Institutes of Health (NIH) and the FDA. This is important because the FDA and the NIH provide grants that take the risk out of studying rare diseases, risks that would likely not be profitable for a company to take on. But in doing research on rare diseases, doctors have come across medicines that help much more common ones. Research on three different rare diseases has led to medical breakthroughs in arthritis, osteoporosis, and Ebola. In our own world, KCNQ2 has a connection to tinnitus, which affects more than 50 million Americans including many veterans. Our worlds are much larger and more connected than we think.

On the second day, rare disease advocates descended upon the halls of Congress, taking part in hundreds of meetings to make the case for rare disease funding and research. I visited the offices of three Maryland legislators: Representative Jamie Raskin, Representative Steny Hoyer, and Senator Ben Cardin. All three are strong allies on important rare disease issues, including newborn screening and increased funding for the NIH and the FDA. But even when you know you are walking into a friendly office, the experience of advocating for your child to congressional officials is a weighty but powerful responsibility. And although it’s impossible to sum up the experience of having a child with KCNQ2 in a 60-second elevator pitch, I emphasized the importance of research and access to early screening and also shared a glimpse into the world of caring for a child with a rare disease.

And I was not alone. The Maryland contingent was the largest of any state and we had at least 7 people in each meeting. I talked about the benefits of an early diagnosis for our daughter Lucy and how easy and beneficial that was to replicate with more newborn screening. Others talked about NIH and FDA funding. There was a wide variety of people in the room. Other parents and people living with a rare disease, a fellow from NIH working on rare diseases, genetic counselors from Children’s National Medical Center and representatives of different rare disease foundations.

As we spoke it became clear just how powerful our stories are. Staff members were open and eager to hear what we had to say. Serving constituents is a priority for many members of Congress. When you want to speak to your representative, odds are high they will listen. When you have a compelling story and a clear message, odds are high that they will help. All day long as we walked through the various buildings housing congressional offices we kept running into groups from other states. This included not only rare disease advocates, but also neurologists from all over the country, activists fighting global poverty, and members of the Veterans of Foreign Wars. These doors are open and the people inside are interested.

It was a day where we could see the strength of big numbers, but we need more. We want to increase the KCNQ2 voice during Rare Disease Week, so consider if this is something you could participate in and make it next year. But more importantly, advocacy doesn’t just take place in Washington DC. Congress represents us all — KCNQ2 families, researchers, and clinicians. And while each year RDLA ensures that our voices are heard during Rare Disease Week in Washington DC, they also organize lobby days in August in each legislator’s home district. That means your representatives can meet with you close to home. Let’s make sure they all have a chance to learn about our amazing KCNQ2 kids. Please reach out to us if you are interested in making your voice heard and helping support our whole KCNQ2 community. We can help you make it happen. I had the good fortune to speak with three lawmakers who were all receptive to our message. But any chance to make your voice heard on KCNQ2 is powerful and valuable.

In the weeks to come, I will be following up on our legislative asks and will send updates on the feedback I get. And as we get closer to August we will be reaching out for people to join us for state-level lobbying efforts. We look forward to hearing from you about how you can help.

KCNQ2 Cure


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