Did you know that there are 300 million people in the world living with a rare disease? That is just under 6% of the world’s population. With Rare Disease Day coming up on February 28th, I wanted to share some facts about rare diseases in general, as well as more about the condition my daughter has.
72% of rare diseases are genetic, and 70% begin during childhood. Patients and families face a long road: it’s not uncommon to be misdiagnosed, sometimes more than once, especially when symptoms mimic other conditions. There are often a lack of resources available, because many times doctors are encountering these rare conditions for the first time. Needing to seek care from specialists can be tiring: sometimes the nature of the disease means you need to see doctors from several different specialties, and you need to make sure they are coordinating with each other for treatment plans. It can feel very lonely and isolating for both the patients and the caregivers, and the uncertainty about the future can be overwhelming.
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My daughter Gianna has a rare disease called lymphangiomatosis. It is so rare that there is currently no known number of how many people have it. Her disease affects her lymphatic system. The cause is unknown, although the suspicion is that, during fetal development, the body produces too many lymph cells. Sometimes they form masses — benign tumors — and can be found all over the body. Most of the time, the signal for those cells to produce lymphatic fluid is faulty, so the body produces more than it can absorb, causing it to collect in different areas of the body. My daughter has had fluid in her lungs, the sac around her heart, and presently, it is collecting in her abdomen. There is no cure (yet!), although there are several phenomenal teams across the country doing research into Complex Lymphatic Anomalies (CLAs). We are very fortunate to not only have found a wonderful team of doctors locally to manage her care, but to be within driving distance of the Children’s Hospital of Philadelphia, which has the Comprehensive Vascular Anomalies Program (CVAP). The doctors involved with the CVAP team are working on new treatments and therapies, as well as genetic research. The developments in just the nine years since Gianna was diagnosed are amazing and hopeful. We are also very fortunate that there is a network of patients and families that we can connect with via social media through the LGD Alliance, which makes this whole journey a little less frightening!
The purpose of Rare Disease Day is to spread awareness, and the official website has many suggestions on how to do just that — at home, in the community, and even with your kids. Visit the Rare Disease Day website for more information!
For more information on CLA’s and my daughter’s disease specifically, you can visit lgdalliance.org.
