2013 Rare Disease Day summaries from CADASIL Association leadership

From Anne McGuinness, President of CADASIL Association

Going to Washington, D.C. to be a patient advocate for CADASIL and other rare diseases was truly an empowering experience. Being on Capitol Hill makes you feel that you are really making a difference. Last year, Barbara Hunt and I attended the first RDLA Lobby Day, and we were among about 70 rare disease advocates. This year, we were among 200 advocates. To see how this movement has grown in just one year is very exciting. This year the CADASIL Association had four advocates from four states. We doubled our presence. Next year, I hope we can have even more CADASIL advocates attend. I would like to see a CADASIL advocate from every state. I was very proud to be from New Jersey. I think we had the largest group of advocates, so we had to be split into two groups. We represented about ten rare diseases. Our group included the Pediatric Hydrocephalus Foundation, Sarcoma Foundation of America, EDSers United (Ehlers-Danlos Syndrome), and the CADASIL Association. We all learned about each other’s diseases and exchanged ideas about furthering our common cause to find a cure for our disease. Organizations that represent rare diseases share many of the same concerns. It was a great opportunity to tell others about CADASIL. Because we all are in the same boat, the people you meet really understand the challenges we face. CADASIL Association was one of about 50 organizations represented. The RDLA took out a full-page ad in the DC newspapers “Roll Call” and “Politico.” An overwhelming sense of accomplishment came over me when I opened up the newspaper and saw the CADASIL Association listed. The CADASIL Association has been working very hard to increase public awareness of CADASIL. It seems like we are taking baby steps with this endeavor, but little by little the word is getting out. Rare Disease Day at the NIH afforded us the opportunity to make connections with likeminded organizations and industry leaders. Our table and bulletin board attracted many attendees. Researchers are looking for grants from patient organizations and we received many requests. Unfortunately, we don’t have the funds to offer grants at this time. We need to have fundraisers so we will be able to do so in the future. Maybe next year we will have grant money available. We collaborated with other organizations and gained insight on how to grow the CADASIL Association.

From Barbara Hunt, Treasurer of CADASIL Association

It was a great experience to participate in Rare Disease Week in DC for the second time. Last year went so smoothly it was hard to believe it could be done any better. However, the RDLA did make some changes for Lobby Day and they were welcomed improvements of the process. This year there were twice as many advocates as there was last year. Many of those I met last year returned. It was good to see old friends and share stories of the progress we have all made in the areas of awareness, fundraising, and research. The most gratifying part of the week was seeing an increase in awareness about CADASIL. Last year every time we said the word CADASIL, the response was: “What is that?” This year I heard several times: “Oh, I have heard of that.” What a great feeling to have someone who does not have CADASIL recognize it! This tells me that all of the advocating and raising awareness that you all have done is beginning to emerge. We can continue raising awareness by asking our members of the House of Representatives to join the Rare Disease Caucus. The purpose of the caucus is to bring greater congressional attention to the nearly 7,000 known rare or orphan diseases that currently have no approved therapy, by providing a forum for Members of Congress, families, and advocacy groups to exchange ideas and policy concerns. If you feel that your member of Congress should take up this cause, support laws that accelerate treatments and cures for rare diseases, encourage him or her to join the Rare Disease Caucus today!

From Karla Smith, CADASIL Patient and Trustee of CADASIL Association

This was my first visit to Rare Disease Day in Washington, DC. I spent the week by not only figuring out the Metro Train system but was pleased to learn new things and to meet new people who have a rare disease or have a child with a rare disease. Some were experienced advocates and became very helpful to me while meeting with our state Senators and Representatives. Some were there to advocate even if their child was no longer living. After meeting my one other advocate from Ohio and learning her son’s story, I couldn’t help but feel sad for what she and her family are going through. Her son is suffering from Gaucher’s Disease, which is fatal. Listening to her talk about her dying son yet being very positive and able to speak to anyone about this disease made her very much an idol to me. She brought one of her other teenage sons with her, and after going from meeting to meeting on Capitol Hill, finally a representative asked this young man if he wanted to say anything. He said, “I’ve been waiting all day to say something.” After being asked how he feels about his brother dying, he tried to talk but broke down and started crying. His mother started crying and gave him a hug, and then I started crying. No one should have to go through what this family and many others are going through and have gone through in the past. I had the experience of meeting another woman who was advocating for her daughter who passed away two years ago from Batten’s Disease. Her daughter may be lost, but she is doing whatever she can to inform others and keep her child’s memory alive. For the first time since my diagnosis of CADASIL, I have realized that it is not as bad as those diseases taking our children away from us at such young ages. I am not minimizing CADASIL, as we all know it is a devastating disease. I feel that this experience in DC has humbled me put things into perspective. I know that I would rather have CADASIL over and over instead of seeing my child or other people’s children fade away from any disease.

From Janet Mills, CADASIL Patient and Secretary of CADASIL Association

This was my first time in DC, and I had many amazing experiences advocating on Capitol Hill and meeting others in the Rare Disease Community. We are all wanting the same thing: cures and treatments for our conditions. By joining others outside our smaller CADASIL Community, our voices were heard by many state congressional members. Some thoughts: -So many rare diseases affect babies and young children. It was heartbreaking to hear parents talk about their little ones who have died or are dying. By banding together with others advocating for rare diseases, we can help everyone who suffers, whether they are young or old. We all need one another. -I was not surprised to be the only advocate there from Wyoming, as my state has a population under a half million. I buddied up with a young father from Florida who lost his 4-year-old son to a rare pediatric cancer, and we spent most of Wednesday, February 27th meeting with our representatives from both states. In the process, my Wyoming reps heard about Rob’s son’s cancer, and his reps from Florida heard about CADASIL. Partnerships! -We ARE being heard. Not only did our state representatives in the House and Senate listen to us, they and others we encountered on this trip showed compassion and gave us hope. Please check the link Barbara gave above in her summary, and contact your state congressional reps. If we could ALL ask our members of the House to join the Rare Disease Caucus, we will make an impact!

These volunteer summaries were initially contributed and featured in the March 2013 issue of EMBRACE newsletter published by CADASIL Association. Thank you all for your stories and dedication to CADASIL awareness!