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!
My family is on a journey I didn't expect to take, and a foundation of hope has been my north star. Our journey can be inspiring but also many times daunting, and if we become hopeless we will lose our way. I would like to honor my son by sharing his brave journey.
Curren has been seen by 5 neurologists, 4 geneticists, a neurogeneticist, 2 developmental specialists, a GI specialist, an ENT specialist, 2 ophthalmologists, a orthopedist, 2 orthotists, a podiatrist, 2 psychologists, 2 pediatricians, 4 physical therapists, 2 occupational therapists, and 2 speech therapists - this has all been in the first 3 years of life. Beginning about 2 years ago, Curren ramped up therapy to 5 days a week, sometimes up to 4 hours in one day. He is a tough cookie, and he works very hard every day. Sometimes he forgets how to do the things he learns, but Curren never gives up.
Curren was born with a mutation in his HIVEP2 gene, but he was not diagnosed until he was 2 years old, after a long diagnostic journey. When reviewing his birth records, I noticed they recorded abnormal hypotonic behavior and muscular tone upon his first evaluation, but it was actually Curren's daycare that told me his muscle tone was not normal 4 months later. Between his low tone and difficulty with brain signaling, Curren has a very hard time controlling movement, especially in his legs. And although his muscles are strong enough to do it, Curren hasn't been able to crawl, pull up, or walk yet. He is, however, doing fantastic in his new wheelchair, and we are planning to get a mobile stander which supports Curren in a standing position but has wheels like a wheelchair so that he can move around and be at the level of his peers. Many people ask if Curren will ever walk, and it's a challenging question to answer. There is no way to know, but I have hope that he will.
We have been very blessed with good health over the past year, but that wasn't always the case. Curren was first sick when he was 4 weeks old, and was on antibiotics over 20 times during the first year and a half of life. He was diagnosed with reactive airway disorder at 4 months old, when he was in the hospital for respiratory distress. Curren also experienced a seizure and metabolic crisis event when he was two. Many of the other children with HIVEP2 disorder experience GI issues, but the only problem we have experienced is a failure to thrive diagnosis based on Curren's slow growth. We are also very fortunate so far to have good reports from the ophthalmologist, as eye problem are common for our community.
Perhaps one of the most challenging aspects of HIVEP2 disorder is the developmental disabilities. Like many others, Curren was diagnosed with autism, although he is actually very motivated by social experiences. The features of autism that Curren displays are regressions, language disorder, sensory integration disorder, and obsessive compulsive disorder. Curren is non-verbal, and it is so difficult for a child who has so much to say to not be able to say any of it. He understands what it going on around him, and he has intent for his legs, hands, and mouth to do certain things, but the message seems to get scrambled and the action doesn't happen the way it should. Lately, I ask Curren to touch his head (which is actually very challenging for him since he can't see it) and he starts clapping. I can tell from the look on his face that he is not thinking about clapping and is confused why his hands aren't touching his head, but the directions from his brain don't seem to be delivering the right message. I see this also in his speech. Once when we were in the hospital, and he was over it. He said clear as day "all done", but hasn't said it again in over a year. I can't imagine the frustration to have this disconnect between your brain and your body, but my son handles it incredibly.
On this journey, we have seen such kindness and compassion. It is so heartwarming to see Curren's fans, rooting for him to not give up. Curren has an exceptional team of professionals caring for him and looking for answers. We are eternally grateful to the doctors and therapists that are making a difference in Curren's life. It is not always an easy journey, but the people that support Curren do make hope feel more grounded. I am also so very proud of my son for the tremendous effort that he puts forth, and for his beautiful spirit that has not been subdued. I have hope for the future and what it holds!
At this time last year, my friend Heather and I had each other, and that was it. Heather's daughter was the 2nd and Curren was the 4th child in the world to be diagnosed with HIVEP2 disorder. We were searching for a community, and didn't know if we would ever find others. Then something very exciting happened - we found 3 families last summer that shared our children's rare diagnosis. Fast forward to last week, and our community suddenly grew from 5 to 7. There are also others that have been published in medical literature, we just haven't been able to find them yet. These numbers bring the total to 14 known cases of HIVEP2 disorder.
While there are only 14 of us, there are over 7000 known rare diseases, all with small populations. This presents a great challenge - there are literally thousands of diseases with little or no resources, leaving millions of Americans with little hope for management or treatment options. There are actually more Americans battling a rare disease than all of those with HIV, heart disease, and stroke combined. And over 80% of rare diseases are genetic in nature, which means they are often lifelong conditions. How can we help support these people?
We will celebrate international rare disease day on February 28th. There are many ways to show support, and you can find those on the US Rare Disease Day website and on the Global Genes website. To more directly support Curren and our HIVEP2 community, we are selling Hope for HIVEP2 shirts to raise money for research opportunities. There are also two other organizations that have directly supported Curren, as well as so many other in the rare disease community. The Rare Disease United Foundation runs an incredible program called Beyond the Diagnosis, where master artists from around the world donate their time and talent to paint children with rare diseases. The portraits travel around the country to various institutesto raise awareness, and the goal is to put a face to all 7,000 known rare diseases. Curren's breathtaking watercolor will be on display this year at the FDA to raise awareness for HIVEP2 disorder on Rare Disease Day! I will be taking a trip to DC during the last week of February to see his portrait for the first time in person, and will also be attending the NIH Rare Disease Day to learn more about NIH-supported rare diseases research and the Rare Disease Legislative Advocates Rare Disease Week on Capitol Hill to share our voice with legislators. This trip was made available to me through the Everylife Foundation, and I am so grateful for their commitment to the rare disease community.
I hope you will help us share our voice this year for the 2017 International Rare Disease Day! A rising tide lifts all boats, and we all deserve a chance to sail.
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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.