The story of Deeann

As someone who lives with a number of rare conditions, including Nail Patella Syndrome, Idiopathic Intracranial Hypertension, Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia, as well as many other conditions, I know firsthand the challenges that come with living with rare diseases.

I’m just about to finish my 5th university degree and have studied areas such as neuroscience, case management and music. I work within the field of disability. My motto is “promoting inclusion, embracing diversity, and harnessing lived experience”. I’ve even been lucky enough to travel to 29 countries, despite spending periods of many months in the hospital and experiencing extreme and debilitating pain and fatigue.

Living with rare diseases can be a lonely and isolating experience. It can take years to get a proper diagnosis, and even then, there may be few treatment options available. But I believe that by sharing our stories and experiences, we can raise awareness about these conditions and help others who may be going through a similar journey.

For me, Nail Patella Syndrome affects my joints, specifically my knees, elbows, and fingers. I also have underdeveloped nails, kidney disease, some eye involvement, and other associated symptoms. Idiopathic Intracranial Hypertension causes high pressure inside my skull, which can cause severe headaches and vision problems. Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia are all conditions that cause severe facial and swallowing pain, which can be triggered by things like swallowing water, hearing a loud noise or feeling the wind against my face. In 2022, I needed a feeding tube for 7 months to improve my nutrition as it was incredibly difficult to eat.

Living with these conditions means that I have had to learn to manage pain and fatigue, both physically and mentally. I’ve had to find ways to cope with the constant pain and discomfort, while still pursuing my passions and goals. It hasn’t been easy, but I’m proud of what I’ve accomplished, and I hope that by sharing my story, I can inspire others who may be going through similar challenges.

One of the biggest challenges of living with rare diseases is the lack of understanding and awareness. Many people have never heard of these conditions, and even healthcare professionals may be unfamiliar with them, the symptoms and treatment options. This can lead to delayed diagnoses and ineffective treatments, which can be incredibly frustrating and disheartening.

That’s why Rare Disease Day is so important. It’s an opportunity to shine a light on the thousands of rare diseases that affect millions of people around the world. It’s a chance to share stories, raise awareness, and advocate for those who are often overlooked. By coming together and speaking out, we can build more compassionate and inclusive communities that celebrate diversity and support those who are living with rare conditions.

Despite the challenges, I remain hopeful for the future. With advances in medical research and growing awareness about rare diseases, I believe that we can make a real difference in the lives of those who are living with these conditions. I’m grateful for the support of my family and friends, as well as the healthcare professionals who have helped me along the way.

I want to encourage anyone who is living with a rare disease to speak out and share their story. You are not alone, and your experiences and insights can make a real difference. Let’s come together to raise awareness, promote understanding, and build a more inclusive and supportive world for all!