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.