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Patient Advocates Reflect on Rare Disease Week

For one week in February, NF patients, advocates, and CTF staff took Washington, DC by storm for Rare Disease Week to raise awareness for neurofibromatosis and advocate for continued investment in NF research. We asked a couple of parents to share their photos and their thoughts about the experience.  

“My expectations leading up to Rare Disease Week were that I would be able to network with people across the country, learn about some of the newest advancements [in research] for rare diseases and meet with Congressmen and staffers dedicated to the health care industry. All of this happened and so much more. As I sat in a room with 500 people, I learned about rare diseases I have never heard of. The room became less of a large conference and more of a tight-knit family dedicated not to their individual cause, but to the Rare Disease Community as a whole.

“Being a Patient Advocate empowers me to fight for NF at levels I would have never done before. Being involved with the cause has allowed me to become more educated in my son’s health; the more educated I become, the more comfortable I feel in sharing this knowledge with my son’s doctors and educators. You have to be the expert in your child’s care (or your own) to help providers and educators become the best they can be.

“Being able to share my story on Capitol Hill allowed me to know that I can make a difference. That voices are heard. I was terrified the first time walked in to a Congressman’s office, but as I began to speak, I realized that they want to hear our stories. I was shocked to see the responses from the officials. As I walked into meetings for the 2nd year in a row, many remembered my son from last year. To know they have thousands of visits a year and you can personally tell a story they remember is amazing.”

-Shannon McNall, mom to Carson, a young boy living with NF


“I am always so amazed at how inspirational those living with rare disease are and how resilient people can be. I walked away feeling empowered and motivated to continue to advocate and work hard to be heard and gain support for [my son] Caiden and all those affected by NF. I have learned so much about advocacy and how to revise my asks to be more impactful. I gained many new friends to add to the repertoire of my network and hopefully we can find ways to work together in the future.

“Last year a new friend from Rare Disease Week attended my Shine a Light NF Walk and raised $200, which is amazing despite her rare disease being MPS. I found the community to be supportive and welcoming with a similar mission. I found that many caregivers of all types of rare diseases want more treatment options, accessible treatment and ultimately a cure we are more alike than different which creates a bond. I also am learning so much on how the government fully operates and the impact of their policy’s and laws can have on our affected loved ones which is even more reason to advocate and gain those political relationships to ensure that they have the accurate information to make better informed decisions regarding our health care and funding.

“[My role as a Patient Advocate] has a great impact on the care I provide Caiden as I am more versed in the options and programs that are available in my location. Being a caregiver, I feel at times helpless or hopeless, this is my fight back. This is the way that I can do something and not feel like I am standing idly by in hopes that something will change, I get to be the change. My goal is to ensure that Caiden has all the right tools at his disposal to maximize his potential and transition into a contributing, independent adult and hopefully positively impacts the rest of the NF community.

“I am always so grateful to be able to raise my voice with my representatives. I am grateful for such an opportunity to build a larger network within my state and with others that reside outside. It’s a unique encounter as I learn that other rare diseases parallel my same challenges as I relate with the hardships that others have experienced. I leave with intense motivation and inspired to continue to do all I can to end NF and support others with rare diseases.”

-Stephanie Jaramillo, mom to Caiden, a young boy living with NF

From left NF Moms and Patient Advocates
Stephanie Jaramillo, Shannon McNall, and Kelly Eastman 

A group of patient advocates on their way to meet with Senator Gary Peters (MI) and Senator Debbie Stabenow (MI) to share their stories about living with a rare genetic disorder

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