I am humbled and honored to have the opportunity to speak and attend my first Global Genes RARE Patient Advocacy Summit in Huntington Beach this week! I have narrowed the breakout sessions I want to attend to about 18 (yikes!) Global Genes is a phenomenal rare disease advocacy group, and I'm so incredibly grateful that they extended this opportunity to be immersed in teaming, activism, drug development, and scientific innovation to me, Last year, almost 600 attendees representing over 170 rare diseases came together, and there will be even more this year!
The 2017 RARE Patient Advocacy Summit brings rare advocates from across the globe together to Connect, Collaborate, and Activate. This educational conference creates a space for members of the rare disease community to share best practices, create important introductions, and help catalyze powerful collaborations. Attendees share their experience, knowledge, and expertise as conference presenters and or participants
I will be presenting in a workshop on the topic of working with Physical and Occupational Therapists. We have had such an incredible team since Curren was 9 months old to draw knowledge from, and in just over 3 years we have had therapy in the home, clinical, and school settings. We have also navigated coverage of services through Early Intervention, Medicaid/CHIP, the Public School District, and Private Insurance. It has been a journey, and the commitment from Curren and our team is changing his life. I can't wait to share what we have learned on this path so far, and will share my summit experience when I return!
We have had two specialist appointments this week, and both have come back with abnormal findings. Yesterday, we saw a pediatric opthamologist, who discovered that Curren was mildly far-sighted with astigmatism. He was also diagnosed with esophoria, a condition where his eyes tend to move inward, especially if one eye is covered. This most likely results from his generalized low muscle tone, and it is not severe enough to require glasses (I can only image how unsucessful attempting to wear glasses would be at this time in life!). Today, Curren visited a cardiologist for the first time. His EKG resulted in "boderline" abnormal findings. They found that he has a polarization abnormality in the electrical charge just before his heart beats. He had a echocardiogram following these results, which made the cardiologist feel pretty certain there were no concerns at this time, which is fantastic news.
I am grateful that we so often receive "mildly" abnormal results, but it is a bit nerve racking to always have abnormal findings. EEGs, swallow studies, MRIs, growth parameters, metabolic testing - all of these things have come back abnormal, but not severely enough to warrant any action. It is now clear that abnormal has become the new normal. This is my son, he is not like any other, and I love every inch of his "unique" self.
We also had the amazing opportunity to be seen by genetics and neurology at Massachusetts General Hospital in Boston last week. Our experience was incredible, and we left with lots of optimism about Curren's potential, We also provided skin biopsies, for the potenial hope of doing stem cell research and creating patient derived cell lines for further study of HIVEP2 disorder. Another perk on the trip included the chance to meet one of our newest HIVEP2 families from Boston and the author of the first HIVEP2 paper for dinner. Our tiny universe is expanding, and I am so excited for what the near future holds.
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.
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!
The past 3 weeks have brought lots of new and exciting changes. We did intensive movement therapy last weekend, and are now seeing a very noticeable difference in Curren's motivation to move. He went to the Connectivity Center in Melbourne for Anat Baniel Movement Therapy (ABM therapy) in the morning and afternoon for 3 days. The therapy was different than anything else we have tried - it was very much on his terms. So he decided what he wanted to do, and the therapist helped facilitate the movement. The philosophy is that the movement becomes more hard-wired in his brain if he is the one that initiates it. So overall, lots of kneeling, reaching, rolling, and scooting through play - with an emphasis on posture and body placement. Curren worked so hard and we are very proud of him! For the first time, he is now consistently pushing up from his tummy to hands and knees, and the sitting down. This is huge, as he had always been stuck on his tummy (which caused lots of frustration!)
Curren is also making great progress with his goals in his traditional therapies. He is making new sounds at speech and becoming really fantastic at mimicking. He has been working in the spider suit, which is a belt and bungee system that provides enough support for Curren to stand and bounce. He has been working on various activities in the spider suit with a rope in front of him - unclipping clothespins, throwing a ball over the rope, and hanging on for support while jumping. He was also trying to say "up" when he was throwing the ball. Working on PT, OT, and ST all at once!
We also just started new therapy at the Scott Center. It's called Applied Behavior Analysis therapy, and we are going to focus on communication, expression of wants/needs, reducing distractions, and overall socialization. His therapists seem very sweet, and Curren really seems to like them a lot. His weeks are pretty jam packed with activities now, but all of these services seem to be making gains in forward progress, and we are so thankful for all of the help that Curren gets.
It was almost 3 weeks ago when we went to Kennedy Krieger and the Children's Hospital of Philadelphia. (And I am so glad we're not up there right now in a bliazzard!) It was a super busy trip - we stayed in 3 different hotels over 4 days. Curren was a rock star the whole trip. He was so happy, and loved everything - the plane, the elevators, the hospitals, and the arctic-freezing cold air. The best part about the trip was the wonderful people we visited with. There is only one other child in the US currently known to have a HIVEP2 mutation, and we were so fortunate to meet her and her sweet mother. It was helpful for me to find another on this journey that feels overall rather lonely. In the context of things, our children are one in a billion, and it's not easy to spark medical interest with those odds. Needless to say, the visits with the doctors were not what I had hoped for. I was impressed by the effort Kennedy Krieger put forward. At one point, there were 5 doctors in our room, listening to me trying to summarize a medical record that is thousands of pages long in 15 minutes. We found out there are structural abnormalities in Curren's brain they observed by reading his MRI from when he was 9 months old. He has a thinning corpus callosum, which connects the left and right hemispheres of the brain, and delayed myelination (immaturity of the plasma membrane that allows nerve impulses to move quickly). This was really about the extent of the beneficial medical information we got from our trip.
The other really wonderful part of our trip was a visit with a very old family friend in Philadelphia. We visited with a beautiful soul who played an important part in my childhood, and I haven't seen her in over 20 years. It is so great to have those people in life where decades can go by, and yet it feels like time has stood still when reunited. It was truly amazing to see our old friend.
The director of clinical genetics at CHOP told me something that put things into context. She said that Curren is a pioneer, and is just writing the beginning of the story. When we got a diagnosis 3 months ago, I started a crazy midnight googling effort. I have reached out to over 50 different doctors, hospitals, research programs, and clinical studies. We got appointments with 2. We have been rejected time and time and time again. When I got some interest from someone followed by a rejection, it shattered me each time. I had hopes that there was some type of medical intervention that I didn't know about that would improve Curren's life. I am realizing now that there is just incredibly limited information available about this gene and the effects when it doesn't work properly. A rare or orphan disease is defined by a condition that affects fewer than 200,000 people in the United States. Right now, HIVEP2 mutations affect 2. We are dealing with an ultra-ultra-ultra rare disease, and there is simply a lack of information available. It's not the answer that I hoped for, but I am at peace with it (and that was not easy). I am going to focus my energy on what I do have control over - providing quality therapies, feeding this baby uber-nutritional food, living in the present, and celebrating the awesomeness that Curren is!. Love this boy!
It's hard to believe that it is now 2016. What a whirlwind of craziness 2015 was, and it has come and gone. Personally, I was not a fan. I mean it was hard to beat 2014 - new fantastic house, new adorable baby, 12 week maternity leave to hang with my kiddos - but 2015 wasn't even in the running. I feel like we were pretty much stuck under a dark stormy cloud the.entire.year. I am so looking forward to a better 2016, and we're starting off with a bang!
Tomorrow we leave for our first big medical adventure up north. We will be seeing several of the doctors that contributed to a recent HIVEP2 medical publication at Kennedy Krieger. We will also be meeting with the director of clinical genetics at the Children's Hospital of Philadelphia. I am super excited (and nervous) about the trip, and really hoping to get some better insight into Curren's care and treatment. I'm also hoping that Curren doesn't get sick from the planes and hospitals, that we don't freeze to death (the low is 16!), and that I can accommodate Curren's gluten-free/dairy-free diet while we travel.
I also wanted to share a great book I started reading over the holiday, and I think it would appeal to all walks of life. "Far from the Tree" by Andrew Solomon is about ordinary people facing extreme, and potentially isolating, challenges. The book focuses on the search for identity through struggle. I underlined a short passage, and I'm going to make it my thesis for 2016:
Life is enriched by difficulty; love is made more acute when it requires exertion.....It is not suffering that is precious, but the concentric pearlescence with which we contain it. The raw grit of anguish will never be in short supply. There is enough of it in the happiest life to serve these instructive purposes and there always will be....We all have our darkness, and the trick is making something exalted of it.
I hope that everyone can make the most of their darkness, and have a wonderful new year. Here's to 2016!
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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.