The opportunity to experience Rare Disease Week in our nation's capital was more than I can describe in words. I was surrounded by families and patients walking the same walk and fighting many of the same battles. Some are still advocating even after the loss of a child, and many were patients themselves, dealing with life limiting/robbing condititions.
The week started at the NIH, where researchers, policymakers, and advocates shared recent developments that are further advancing rare disease treatments. In 2016 alone, the NIH Clinical Center involved over 15,300 rare disease patients in a clinical trial or natural history protocol. The NIH's focus on rare disease research is intentional - it is often very easy to asemble a cohort of patients with rare diseases. But even more promising, rare diseases often provide a window to common diseases. Shared during the NIH Rare Disease Day was this quote from William Harvey in 1657:
Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.
The stage was set Tuesday for our legislative meetings though our Rare Disease Legislative Conference, sponsored by Rare Disease Legislative Advocates, and culminated in Presendent Trump's address to congress, where he honored a student with a rare disease and promised a nation of "miracles" by slashing restraints at the FDA and across the government. And I was thrilled to see my representative Congressman Bill Posey wearing the blue demin rare disease ribbon that we gave him the week prior.
On Wednesday, 328 rare disease advocates participated in 270 Lobby Day meetings with US Senators, Congressmen, and staff. Advoates shared their personal stories, and asked that policymakers help the rare disease community (over 20 million Americans) with key issues. We asked for robust funding for the NIH and FDA, and to implement approapriations from the 21st Century Cures, which passes last year by 392-26 in the House and 94-5 in the Senate. We asked Congressman and Senators to support the OPEN ACT, which was pulled from 21st Century Cures at the last minute. The OPEN ACT would repurpose approved drugs for rare disease uses, and is estimated to double the number of drugs available to rare disease patients. This would have a significant imact on our community, as 95% of rare diseases have no FDA-approved treatment. And finally, we asked to ensure that rare diease patients don't lose access to affordable, life-saving heath insurance coverage in the upcoming policy changes.
I thank our Florida Congressmen, Senators, and staff for taking the time to meet with us and hear from the rare disease community. Thank you to Congressman Posey for honoring Rare Disease Day with your ribbon and for participating in the Rare Disease Congressional Caucus. And we are especially grateful to Congressman Darren Soto for commiting to co-sponsor the OPEN ACT after meeting with our group.
On Thursday, we visited the FDA White Oak campus to see Curren's Beyond the Diagnosis portrait, which has been on display along with 14 other paintings in honor of Rare Disease Day. We met with a wonderful woman from the office of Orphan Products Development and she shared the gallery with us. It was very overwhelming to see Curren's painting in person, and to experience the exhibit and the beautiful art created to honor these special children.
After the FDA trip, we headed back to D.C. for the Rare Disease Congressional Caucus briefing on the topic of advancing rare disease treatments in the era of cures and health care reform. This was a wonderful recap of all the critical issues we focused on throughout the week, and it's wonderful to see that over 100 Senators and Congressmen are members.
I left Washington D.C. feeling on top of the world, but in recent weeks I see that there is so much work to be done in the Rare Disease advocacy space. If you follow me on facebook, you may know that Curren has just lost his Children's Health Insurance Program (CHIP) coverage for medically complex children (CMS Title 21). If Medicaid is decentralized, block-granted, and/or per capita capped, it would be tragic for children with complex medical needs and developmental disabilities, as it covers nearly half of all children with special healthcare needs. There is not a private insurance plan currently available to me at this time that covers the therapy and equipment that my son needs. Additionally, it is very troubling to hear of the proposed cut of $6 billion dollars from NIH funding (almost 20% of the current budget). I hope that we are able to fund innovation to create a nation of "miracles" as referenced in the Joint Session on Rare Disease Day, and that we don't overlook our most vulnerable population of disabled and sick children in our years to come.
Tomorrow my blog will be 1 year old, how exciting is that? I started this blog searching for answers, and ironically we received a diagnosis within the first month. But moving from the past and on to the present - we have been involved in so many new and amazing things over the past 6 weeks. It's hard to believe we have jam packed all this excitement in such a short period of time. Curren went to New York to see our new incredible doctor who is actively researching HIVEP2, he was on national television as part of the Beyond the Diagnosis art exhibit, he completed a 3-week intensive therapy program sponsored by the Cove Merchants Association from the Canaveral Mac Attack tournament, he turned 3 years old, and he started an early exceptional learning program at a local public school. We are all pooped, but this is a marathon and not a sprint - so we keep on going!
Our trip to New York was wonderful. We stayed in a small beach town in New Jersey with good friends for a few days, and our friends Ryann and Heather came into town and met us (Ryann has the same diagnosis as Curren). We went into the city for Curren's appointment at New York Presbyterian Children's Hospital, and visited the Guggenheim, the Cooper Hewitt, Central Park, and the Seaglass Carousel at Battery Park. The appointment with Dr Chung and her team was wonderful, and we are working together to plan a virtual family conference for all the families with a HIVEP2 diagnosis.
Once we got home from our trip, we found out that Curren was going to be included in a nationally televised program on a traveling art installation call Beyond the Diagnosis. We are so honored to be included in the collection and to help put a face on rare disease. Curren's portrait was completed just before the program aired, so his painting wasn't included in the segment, but he had a little photo cameo at the introduction to the story. Curren's painting is an incredible watercolor that beautifully captures his essence, and it is possibly one of the kindest gifts anyone could give us! His artist is a very accomplished retired neuroscientist in England. We have also already been contacted by a genetics professor who saw the exhibit, and her students will be doing a project on HIVEP2 and interviewing us! We can't wait to see where Curren's portrait travels and how his painting will raise awareness for HIVEP2 disorder and rare diseases.
Curren had the opportunity to complete a 3-week intensive physical therapy program at Ability Plus using a therasuit compression body orthosis, thanks to the proceeds from the Canaveral Mac Attack and the Cove Merchants Association. He went to therapy from 9:00-12:00 every day for 3 weeks. The therasuit helps to stabilize movement, improves body awareness, provides dynamic correction, and supports weak muscles. When used intensively, it accelerates gross and fine motor skill development. We saw a huge improvement in Curren's mobility, strength, and coordination throughout the program. I feel that he accomplished in 3 weeks what would typically take him 3-4 months. The biggest improvement is that Curren is initiating steps now (with upper body support). His lower body has always been much weaker that his upper body and it wonderful to see those feet starting to work! It wasn't easy to do that much physical therapy every day, and we are so proud of Curren for sticking it out and making it all the way through each day!
Curren also had a birthday last month. We had a sweet puppy party, and there were 4 dogs in attendance. We also went to Animal Kingdom to celebrate.
Since Curren turned three last month, he aged out of Space Coast Early Steps (so sad!) and started an early exceptional learning program at a local public school. He attends school 3 days a week, and will continue to go to Ability Plus for PT, OT, and ST the other 2 days. I have been nervous about this transition for over a year, so you can imagine my relief when we realized his teacher and assistant are so kind and caring and very experienced. Curren will also get PT, OT, and ST at school, as well as adaptive PE, aqua therapy in an indoor heated pool, circle time, and more. We are so excited for Curren to get this much enrichment throughout the week and look forward to watching him learn and grow in this environment!
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.