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.
As I prepare for an incredible week in our nation's capitol - I can't help but get butterflies knowing that I am about to experience phenomenal opportunties to advocate for rare diseases at the National Institutes of Health, Capitol Hill, and the FDA. I am humbled to be able to meet with researchers, doctors, legislators, and scientists and share Curren's story along with other advocates from all over the country. While there are currently only 15 children known to have HIVEP2 disorder, one in 10 Americans battle a rare rare disease. We will be coming together as a community to share our voice on the critical issues our children face.
I would like to share some words from the Rare Disease Day website on this year's theme - research:
Imagine going to see your doctor only to be told that they don’t know what is happening to your body, that they don’t know what your disease is. Imagine that they can diagnose your disease but tell you that there is no cure or even treatment available. Or that the treatment available is not fully effective but just the best possible option. You don’t know how you or your loved one will manage life from one day to the next, nor how the disease will affect your work or school life.
Imagine what it would be like to live without answers to your most basic questions.
This is the reality for many rare disease patients. Research can lead to the identification of previously unknown diseases and can increase understanding of diseases. It can enable doctors to give a correct diagnosis and provides information to patients about their disease. It can lead to the development of new innovative treatments and in some cases a cure.
Research is key. It brings hope to the millions of people living with a rare disease across the world and their families.
Rare disease research is crucial to providing patients with the answers and solutions they need, whether it’s a treatment, cure or improved care.
On 28 February 2017, the tenth edition of Rare Disease Day will see thousands of people from all over the world come together to advocate for more research on rare diseases. Over the last few decades, funds dedicated to rare disease research have increased. But it can’t stop there.
Rare Disease Day 2017 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.
Rare disease patients and families, patient organisations, politicians, carers, medical professionals, researchers and industry will come together to raise awareness of rare diseases through thousands of events all over the world.
Rare Disease Day 2017 is also an opportunity to recognise the crucial role that patients play in research.
Patient involvement in research has resulted in more research, which is better targeted to the needs of patients. Patients no longer solely reap the benefits of research; they are empowered and valued partners from the beginning to the end of the research process.
Please join me in spreading the word for our HIVEP2 children and millions of others living with severe and lifelong conditions that have no treatments or cures. Alone we are rare, together we are strong!
I have been honored with an incredible opportunity - to represent the rare disease community in Washington DC during the 2017 Rare Disease Week on Capitol Hill. Hosted by Rare Disease Legislative Advocates, hundreds of rare disease community members from across the country will join together to learn about federal legislative issues, meet other advocates, and share their unique stories with legislators. I am thrilled to be participating in this series of events, and very excited to share Curren's voice (and many others, too!) with our Congressmen and Senators. My goal is to raise legislative awareness for the needs of the rare disease community, and address roadblocks in the development and access of critical treatment and management options. There are three specific issues that I will be focusing on during my trip, which not only impact the rare disease community, but also much of the general American population.
The first critical issue is the lack of treatment and management options. At three years old, Curren has seen over 20 doctors, and none of them have been able to prescribe any type of medication or treatment that has helped to manage any of Curren's symptoms. In fact, many of his symptoms are getting worse over time. This is not uncommon in the rare disease community. Statistics show that there are over 7000 rare diseases and less than 500 FDA-approved treatments for those rare diseases - that leaves 93% of rare diseases with no treatment or management options. Sadly, many rare diseases are terminal, and 30% of patients die before their 5th birthday, This skews the patient population so that over half of those battling rare diseases are children, There needs to be a stronger emphasis on orphan drug expansion, increasing FDA funding, and modernizing clinical trials to help those who are running out of time.
The second critical issue is healthcare policy. Up until last year, Curren was on private insurance through my employer, During that time, we were denied coverage for speech therapy (for a completely non-verbal child), physical therapy (for a non-ambulatory child), occupation therapy (for a child who cannot feed himself), ABA therapy (for a child with autism), B12 and folinic acid supplements (because they aren't FDA approved), spio compression suits (because of medical coding issues), and whole exome sequencing (because it wasn't "medically necessary"). That's right - Curren's genetic test that actually provided his diagnosis was found to be not medically necessary, even after appeal, and was not covered under private insurance. This decision was on the premise that the small chance of "meaningful" information resulting was not worth the cost, and regardless should not change his plan of care. I do beg to differ. Now we know that Curren has a lifelong disease that is due to a mutation in a gene, he will not "grow out of it" as some doctors said early on, and it absolutely does change his plan of care.
This past year, Curren was eligible for a state CHIP insurance program for medically complex children, and it has been a tremendous blessing, This program has covered all the therapies, adaptive equipment, and appointments that private insurance didn't. Because of our CHIP coverage, Curren has been able to go to the best pediatric rehabilitation facility in our county, get a wheelchair, see multiple specialists, get on a waiting list for ABA therapy, and much more, I am concerned that whether public or private, children with profound medical conditions and disabilities do not have access to the therapies and early interventions that will allow them to be their personal best in life. I know that healthcare is a very politically charged issue right now, and I don't want to get into politics in this post. I do, however, feel that whether conservative or liberal, we have a duty to protect our most vulnerable and maintain a system that allows children with or without complex needs the opportunity to thrive.
My last critical issue is one that really applies to us all, and that is one of advancing research. Where would we be without science? W. Edwards Deming once said, "without data you're just another person with an opinion." Whether in my professional life as an architect, or in a personal capacity as an advocate, data is needed to create a defendable foundation. Now more than ever, we should be removing barriers to increase research collaboration and investing in 21st century science, I have to say, I was not happy to see potential FDA commissioner Joseph Gulfos's position in his recent op ed, stating that he wants to see more research funding shifted to supporting treatments for obesity, diabetes, and cardiovascular disease, and away from rare diseases. I would first like to point out that rare disease research helps us understand medicine for all diseases. One of many examples being this story of a rare lysosomal storage disorder informing therapeutic targets for Parkinson's disease. Secondly (and selfishly), I am a bit offended about the idea that we would give up on diseases that primarily affect children that have no treatment or management options to focus on often lifestyle-related conditions that already have FDA-approved treatments. I am not trying to stir controversy, but I would be thrilled to have an option of surgery or medication or medical device or dietary change that would improve my son's quality of life - but unfortunately none of these are an option to me. I will be a squeaky wheel, as Joseph Gulfo points out, until my son has options available to him to make his life better. To give him the opportunity to speak words (and anyone that knows Curren, knows he has a multitude of words to say) . To give him the opportunity to walk (or run, or chase his brother), To give him to them opportunity to not be a "failure to thrive".
Please stand with us on February 28th, to show solidarity for the rare community. Alone we are rare, but together we are strong.
The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ is a charge for everyone to join the rare disease community in making known the impact of rare diseases. I am happy to share Curren's story, in the hopes that his voice helps to bring about change!
Curren’s first few weeks of life started out calm and beautiful. But he caught his first cold when he was 6 weeks old, and was perpetually sick for the next year and a half. We went to the ER at 4 months old due to respiratory distress. Shortly after, Curren was diagnosed with failure to thrive due to weight loss. Over the next few years, Curren’s growth and development remained stagnant as we desperately tried to pinpoint the reason behind his delays and regressions. We experienced incredible highs and heart-breaking lows, but mostly we felt isolated and alone. Eventually we arrived at an answer. Curren has a single-point mutation in the HIVEP2 gene that is predicted to affect brain growth and development, immunity, hormone production, and bone remodeling.
There is one other child in the US currently known to have a HIVEP2 loss-of-function mutation - our friend Ryann. Because our voice is so small, we have not found much in the way of understanding our diagnosis, or possible treatment/management options. We have no information about prognosis. The response from most doctors or programs is one of two: (1) You already have a diagnosis, we are here to help the undiagnosed, or (2) There is nothing more you can be doing to help your child. I can't accept the second response.
I have been doing research on the HIVPE2 gene function, and have found affected pathways that are also compromised in more well-researched syndromes that currently have treatment trials underway (Phelan-McDermid Syndrome SHANK mutations and HIVEP2 both affect SSTR-2 function, Rett Syndrome gene mutations and HIVEP2 both upregulate the NF-kB pathway, increased MGluR5 signaling is common to both Fragile X and HIVEP2). My biggest hope for the future is that a more comprehensive approach can be taken with rare diseases. What if one of the treatments for a more well-known disease could benefit Curren and Ryann (and possibly many others)? I spoke with the doctor overseeing the Phelan-McDermid and Autism Specrum Disorder IGF-1 clinical trials regarding the common pathways I had found, and if he thought that IGF-1 treatments might benefit Curren. The response was that it was likely, but we don't meet the criteria for any of the trials, and the IGF-1 treatments currently cost over $100,000 a year.
I am in awe of the advancements in the field of clinical and scientific research, but I wish there was a quicker way to apply broad findings to specific cases. It is heartbreaking to see Curren break down in frustration due to his current limitations with communication and mobility. I want so badly to give him every opportunity to be able to express himself and move independently. My mission is to keep my son happy and healthy, and I believe that will be best achieved through accelerating research and raising awareness.
My hope is that World Rare Disease Day brings a new level of awareness to a critical issue. More people are affected by Rare Diseases than cancer and AIDS combined, but many with Rare Diseases have no resources, support groups, or research opportunities. Please help Curren's and Ryann's (and all the beautiful others) voice be heard by sharing our story!
Like the Morrissey song, I wish every day was like Sunday. I love making peace with the chaos that the week before has left. It has been such a beautiful day today - windows open, listening to Billie Holiday, getting lots of smiles from the little guys. If I had a chance to pause life, it would be right now - to soak this face in forever:
So a few weeks back, we attended the ribbon cutting for an adaptive cafe at the UCF campus. The cafe is collaborative effort between Cole Galloway and Dr Jennifer Tucker, the team that created the UCF Go Baby Go program that built Curren's super cool car last year. It provides physical and vocational therapy for people with mobility challenges by incorporating a specially designed harness system that allows workers to move and function freely. We were asked to bring Curren to the ribbon cutting, to demonstrate the infant harness system, and were honored to be part of the event! Curren's brother and cousin came along to cheer him on, and it was so wonderful to see him at eye level with his peers. The harness allows him freedom and support, but most importantly brings his social experience and personal interactions to a whole new level Thank you UCF and Cole Galloway for your pivotal efforts. I can't wait to see the harness system used everywhere!
Curren is also doing lots of new, exciting things. He has starting waving hi and bye again, and he is doing lots of mimicking and imitation right now. He is working so hard, and making promising gains. All these wonderful people that are part of our team are helping Curren to be his very best, and it's pretty awesome!
This weekend, I attended a special education conference hosted by Brevard Public Schools and the Interagency Council of Brevard. I was super impressed by the amount of resources available and the quality of information presented. We connected with a few wonderful people, and received lots of helpful tips. The keynote speaker, Ashley McGrath, was especially impressive. A young woman with a rare genetic disorder affecting her bones and muscles, Ashley shared her story about constantly defying odds. Her autobiography, UnabASHed By Disability, is available for purchase on amazon (I ordered it last night and am really looking forward to reading it!)
As February draws to a close, a very exciting day is right around the corner. A rare day of itself, February 29th is World Rare Disease Day. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives. Here are some staggering facts about rare disease.
*Rare diseases impact more people than cancer and AIDS combined
I would love to see Curren's friends showing support for him and all others fighting rare diseases! Global Genes has some great social media graphics, I've included some of them at the end of this post. The World Rare Disease Day website also has some wonderful information and personal stories of those fighting rare disease (Curren's story is included on their website!) Thank you everyone!
Sign up for our mailing list and you'll be the first to get updates on Curren and all his adventures!
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.