When my son was first diagnosed with a RASopathy, a rare genetic syndrome that affects cell growth and cell regulation by virtue of affecting the RAS/MAPK signaling pathway, I was so excited to finally have a diagnosis. That was quickly replaced by despair. In my hand was a handwritten note listing the next 10 specialists we needed to see. I was given no other direction on where to find accurate information about the disease, support groups, or other families who might be in similar situations. There were no t-shirts or bumper stickers to purchase so I could proudly show my support.
As a parent faced with such a daunting diagnosis, I wanted to do something to make a difference, but I really didn’t know where to start. So I started simple. I created a t-shirt to sell. My goal was to raise funds for research. Little did I know it takes over 2 BILLION dollars to create a treatment. Since then, I’ve upgraded my efforts and moved from t-shirts to bike rides. I’m working hard, in my own small way, to raise funds for RASopathies research. But there is still so much more we can do to facilitate rare disease research. Below are a few tips for those just entering the world of rare disease advocacy.
1. Participate in (or create) an online community specific to your rare disease
Join or build a community where those affected by a rare disease can talk to each other. Many of these groups, like the one I belong to, are for patients, parents, and caregivers. They need a safe space to share/critique treatment ideas, clinicians to see, and helpful daily living tips. It can also be a place for advocates to vent their concerns and celebrate their victories among their peers. My RASopathies online family has become my extended family. Being part of that group has taught me so much—especially regarding the sorts of issues current research efforts are not addressing.
2. Participate in research
Many clinical trials fail because of lack of recruitment. If you want better treatments, then participate in a research. Before doing so however, you need to do your research. First, talk to your doctor or do online research on clinicaltrials.gov to see if there are any clinical trials looking for research participants. You can also reach out to the researchers directly. Remember that journal search you did a few weeks ago on the disease and all those doctors that showed up on PubMed? Go back to that search, find those researchers, and email them directly to see if they know of any ongoing research studies that you might join or if they are looking for cell or tissue samples.
I understand not wanting your child to be a guinea pig. My son is poked and prodded enough. To be as efficient as possible and still participate in research, I try to coordinate research donations when my son will be sedated for another procedure. It only takes a few phone calls and emails to coordinate, and it feels good to know that you are contributing to the advancement of research for future innovative and more accessible treatments.
I am also involved with the RASopathies Network USA
). A non-profit dedicated to advancing research of the RASopathies by bringing together families, clinicians, and scientists. Our biennial symposium
) provides a venue for a scientific collaboration between clinicians, researchers, trainees and affected families to share and discuss clinical issues, the science behind them, and develop a framework for future research. Dedicating your life to tackle rare disease issues isn’t for everyone but it helps me cope with not being able to alleviate my son’s struggles. My goal is that others will not have to go down the same path, or if they do, know that I helped make it a bit more manageable.
3. Get involved at the government level.
Franklin D. Roosevelt once said “Let us never forget that the government is ourselves and not an alien power over us. The ultimate rulers of our democracy are not a President and senators and congressmen and government officials, but the voters of this country.” Do you know who your legislators are? When it comes time to vote, have you taken the time to research their position on issues that may help the treatment and research into rare diseases? Take the time to get informed. And never be afraid to write your Senators and Congressmen. Explain to them what it is like to live with a rare disease—and ask for more research funding. Explain to them that treatments shouldn’t have to take 15-20 years to get in the hands of patients. The process of drug development needs reform.
Picking up that phone or writing that letter is really hard. However, there is a great organization that helps advocates learn the best ways to talk to representatives. RDLA, or Rare Disease Legislative Advocates (http://rareadvocates.org
) helped guide me on how to write and speak to legislators and how to tell my story. I was so nervous the first time talking to a Congressman and my mind was racing with the 27 different things I thought he should know. In the end, I doubt he got the message. Over time, it has gotten easier. I don’t choke up when speaking of my son and can relay my message in a direct and precise manner. Legislators do care and want to hear your thoughts and opinions. After just a handful of these opportunities, some of them now ask me to review draft legislation and help provide press releases for legislation that addresses our passions. Our government is really here for us.
Any advocacy effort is helpful. And certainly, t-shirts and other local fundraising efforts will always be part of what we do to bring awareness and to ask for help. But let’s not forget the other simple things we can do to make a difference. Each of our efforts adds up to tackle the bigger goal. As Helen Keller said, “Alone we can do so little, together we can do so much.”
P.S. – If you are available on May 9th
, you can find me and others taking these small steps at the Million Dollar Bike Ride to raise money for rare disease research grants - Look for the RASopathies Network Riders Team to join or donate at http://www.milliondollarbikeride.org/
. We will likely be near the back of the race but we will be wearing awesome T-shirts.