Advocating For Our Daughter’s Rare Disease

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Advocating for rare disease sometimes feels like fighting an uphill battle. Living with cystinosis means you are 1 in 2,000 people in the world with this condition. Each year during Rare Disease Week, the CRN makes the journey to Washington, D.C. to fight for the rights of our cystinosis warriors.

Elle is four years old. Her father, Jay, attended his first-ever cystinosis family conference in July 2019. After promptly forming bonds with other individuals and families with cystinosis, he knew he wanted to be more involved. As one of the cystinosis representatives on Capitol Hill during Rare Disease Week, here is some insight into his personal experience – advocating for his daughter’s rare disease.

CRN: What were your expectations for Rare Disease Week?

Jay: My expectations were that we would be coming together with the entire rare disease community for the common goal of raising awareness. I do not think I was ready for the sheer size of is aggregate, it was awesome to see and at first a bit overwhelming. I expected to sit in some meetings and talk about policy. I was pleasantly surprised that we were tasked with “owning” our time with our elected officials and actually got real time to sit down and talk with these incredible people.

CRN: What did you think of the experience?

Jay: It was life-changing for me as a parent with a child who had been newly diagnosed. There is a feeling that no one outside of your specific rare disease community really understands what you go through. Family and friends are well-meaning but there is a void that exists nonetheless and traversing the day to day struggles of living in a world that is not tailored to your unique needs has a way of feeling like you and yours exist on a deserted island.  This trip put so much in perspective for me. To say I was humbled is an understatement.

Our representatives from House and Senate were so kind, understanding and respectful of our time. At the core of all this what spoke to me was that what we were in fact advocating for was common sense legislation with regards to the rare disease community, nothing more. When I realized this, the advocacy was so easy to translate from my micro-community in Cystinosis to the macro-level of a national stage.

CRN: What was your key takeaway?

Jay: Getting the wheels of “change” turning from the policy levels takes a concerted and systematic effort on many levels. One also needs to understand that diligence and patience are needed as the process is not something that comes about immediately. Stay the course, do not be discouraged.

Emotion is great, but composure is paramount above all else.

If I cannot effectively get my story and reason for attending across the table without turning into a messy puddle of snot and tears, then what did I really accomplish? Sympathy, is not what I wanted to personally promote, empathy was the goal.  Empathy begets action behind it, sympathy seems to gum the wheels of change and mires us in a perpetual cycle of self-pity.

CRN: Would you do it again? What would you say to someone considering this level of involvement?

Jay: I would do this again in a heartbeat. The advocacy at this level is all about having your “why” concisely planned, and to be able to hit the major “talking points” without going too far into the minutia of the disease itself. The major takeaways for me are:

Practice and practice the “elevator speech”.

Your representatives in the House and Senate represent you, you elected them, so they are on your side, regardless of past voting history

Therefore, go into the meetings without preconceptions, you may be pleasantly surprised.

Get to know advocates from other sectors of the rare disease community.

Some are veterans and have incredible knowledge, tap into that and you will find like I did that the community you “think” supports you is much larger than you thought.

Be a sponge and be humble but speak with conviction. Get business cards made. So much is happening in such a short time that it is impossible to remember everyone you met. Pass yours out in abundance and ask for others with reckless abandon. Follow-up with everyone.

CRN: What has being on Capitol Hill this week meant to you?

Jay: This week meant that I have a much larger voice and audience than I ever expected. My 4 year old daughter’s voice was definitely heard, and for the first time I was in discussions and roundtables that were looking at rare disease and the future of all policy in the USA moving forward.  For the first time since our diagnosis, I felt I was steering the ship. I felt proactive instead of always feeling reactive to what new challenge Cystinosis presented us as a family.

CRN: What do you think events like this do for the cystinosis community?

Jay: They give perspective to our cause and reaffirm that rare diseases are actually not that rare. If the same research, determination, and push can be utilized in this arena the way we see public health policy affecting real change in cancer, HIV, and diabetes, etc. then the sky is literally the limit to realizing our dreams of eradicating rare diseases for the coming generations.  In the end the Cystinosis community has shown through its research and grassroots initiatives that even a few can affect many. Treatments that have seen success in Cystinosis are at their core roots novel therapeutics for many other disorders that affect the lysosomal transport pathways. Truly, by opening up new funding avenues, allocating federal dollars towards establishing a rare disease center of excellence, and humbly teaching our elected officials how to truly speak for “all Americans” we can and will realize our not-so distinct dream of eradicating this insidious genetic disease.